CleftGeneDB-Search

Gene: PTPN11

Basic information

Tag	Content
Uniprot ID	Q06124; A8K1D9; Q96HD7;
Entrez ID	5781
Genbank protein ID	EAW98012.1; AAH08692.1; AAA36611.1; AAA17022.1; CAA50045.1; BAA02740.2; AAP35770.1; BAF82543.1;
Genbank nucleotide ID	NM_002834.4; NM_080601.2; NM_001330437.1;
Ensembl protein ID	ENSP00000376376; ENSP00000340944; ENSP00000489597;
Ensembl nucleotide ID	ENSG00000179295
Gene name	Tyrosine-protein phosphatase non-receptor type 11
Gene symbol	PTPN11
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Acts downstream of various receptor and cytoplasmic protein tyrosine kinases to participate in the signal transduction from the cell surface to the nucleus (PubMed:10655584, PubMed:18559669, PubMed:18829466, PubMed:26742426, PubMed:28074573). Positively regulates MAPK signal transduction pathway (PubMed:28074573). Dephosphorylates GAB1, ARHGAP35 and EGFR (PubMed:28074573). Dephosphorylates ROCK2 at 'Tyr-722' resulting in stimulation of its RhoA binding activity (PubMed:18559669). Dephosphorylates CDC73 (PubMed:26742426). Dephosphorylates SOX9 on tyrosine residues, leading to inactivate SOX9 and promote ossification (By similarity).
Sequence	MTSRRWFHPN ITGVEAENLL LTRGVDGSFL ARPSKSNPGD FTLSVRRNGA VTHIKIQNTG 60 DYYDLYGGEK FATLAELVQY YMEHHGQLKE KNGDVIELKY PLNCADPTSE RWFHGHLSGK 120 EAEKLLTEKG KHGSFLVRES QSHPGDFVLS VRTGDDKGES NDGKSKVTHV MIRCQELKYD 180 VGGGERFDSL TDLVEHYKKN PMVETLGTVL QLKQPLNTTR INAAEIESRV RELSKLAETT 240 DKVKQGFWEE FETLQQQECK LLYSRKEGQR QENKNKNRYK NILPFDHTRV VLHDGDPNEP 300 VSDYINANII MPEFETKCNN SKPKKSYIAT QGCLQNTVND FWRMVFQENS RVIVMTTKEV 360 ERGKSKCVKY WPDEYALKEY GVMRVRNVKE SAAHDYTLRE LKLSKVGQGN TERTVWQYHF 420 RTWPDHGVPS DPGGVLDFLE EVHHKQESIM DAGPVVVHCS AGIGRTGTFI VIDILIDIIR 480 EKGVDCDIDV PKTIQMVRSQ RSGMVQTEAQ YRFIYMAVQH YIETLQRRIE EEQKSKRKGH 540 EYTNIKYSLA DQTSGDQSPL PPCTPTPPCA EMREDSARVY ENVGLMQQQK SFR 593

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2SHP
3B7O
3MOW
3O5X
3TKZ
3TL0
3ZM0
3ZM1
3ZM2
3ZM3
4DGP
4DGX
4GWF
4H1O
4H34
4JE4
4JEG
4JMG
4NWF
4NWG
4OHD
4OHE
4OHH
4OHI
4OHL
4PVG
4QSY
4RDD
5DF6
5EHP
5EHR
5I6V
5IBM
5IBS
5X7B
5X94
5XZR
6ATD
6BMR
6BMU
6BMV
6BMW
6BMX
6BMY
6BN5
6CMP
6CMQ
6CMR
6CMS
6CRF
6CRG
6IHZ
6MD7
6MD9
6MDA
6MDB
6MDC
6MDD
6R5G
3B7O
3TKZ
3ZM0
3ZM1
4DGX
4JEG
4JMG
4NWG
4OHD
4PVG
4RDD
5DF6
5EHP
5EHR
5I6V
5X7B
5XZR
6CMP

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PTPN11	477488	A0A4D6PF96		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PTPN11	102177271	A0A452F960		Capra hircus	Prediction	More>>
1:1 ortholog	PTPN11	5781	Q06124		Homo sapiens	Prediction	More>>
1:1 ortholog	Ptpn11	19247	P35235	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PTPN11		I3L916		Sus scrofa	Prediction	More>>
1:1 ortholog	Ptpn11	25622	P41499		Rattus norvegicus	Prediction	More>>
1:1 ortholog	ptpn11a		F1QZU5		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs267606990	p.Thr2Ile	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112419116C>T	-
rs267606990	p.Thr2Ile	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112419116C>T	UniProt,dbSNP
VAR_027183	p.Thr2Ile	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112419116C>T	UniProt
RCV000211847	p.Thr2Ile	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112419116C>T	ClinVar
RCV000033445	p.Thr2Ile	missense variant	-	NC_000012.12:g.112419116C>T	ClinVar
RCV000694389	p.Thr2Ile	missense variant	Rasopathy	NC_000012.12:g.112419116C>T	ClinVar
RCV000014277	p.Thr2Ile	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112419116C>T	ClinVar
rs886041517	p.Arg4Gly	missense variant	-	NC_000012.12:g.112419121C>G	-
RCV000353023	p.Arg4Gly	missense variant	-	NC_000012.12:g.112419121C>G	ClinVar
rs566068139	p.Pro9Ala	missense variant	-	NC_000012.12:g.112446286C>G	1000Genomes,ExAC,gnomAD
rs536503257	p.Pro9Arg	missense variant	-	NC_000012.12:g.112446287C>G	1000Genomes,ExAC,gnomAD
rs566068139	p.Pro9Ser	missense variant	-	NC_000012.12:g.112446286C>T	1000Genomes,ExAC,gnomAD
rs536503257	p.Pro9Gln	missense variant	-	NC_000012.12:g.112446287C>A	1000Genomes,ExAC,gnomAD
rs368633510	p.Asn10Asp	missense variant	-	NC_000012.12:g.112446289A>G	ESP,ExAC,gnomAD
rs200613531	p.Asn10Ser	missense variant	-	NC_000012.12:g.112446290A>G	1000Genomes,ExAC,gnomAD
rs1472357430	p.Ile11Val	missense variant	-	NC_000012.12:g.112446292A>G	gnomAD
rs1181579972	p.Ile11Thr	missense variant	-	NC_000012.12:g.112446293T>C	gnomAD
rs1386827892	p.Thr12Ala	missense variant	-	NC_000012.12:g.112446295A>G	gnomAD
COSM430369	p.Gly13Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112446299G>A	NCI-TCGA Cosmic
rs587778635	p.Asn18Ser	missense variant	-	NC_000012.12:g.112446314A>G	ExAC,gnomAD
rs776089364	p.Asn18Asp	missense variant	-	NC_000012.12:g.112446313A>G	ExAC,gnomAD
RCV000353569	p.Asn18Ser	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112446314A>G	ClinVar
RCV000261129	p.Asn18Ser	missense variant	Metachondromatosis (METCDS)	NC_000012.12:g.112446314A>G	ClinVar
RCV000318336	p.Asn18Ser	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112446314A>G	ClinVar
rs753951666	p.Leu20Val	missense variant	-	NC_000012.12:g.112446319C>G	ExAC,gnomAD
rs757537175	p.Thr22Ala	missense variant	-	NC_000012.12:g.112446325A>G	ExAC,gnomAD
rs750261927	p.Asp26Asn	missense variant	-	NC_000012.12:g.112446337G>A	ExAC,gnomAD
rs1247363600	p.Asp26Val	missense variant	-	NC_000012.12:g.112446338A>T	gnomAD
rs750261927	p.Asp26Tyr	missense variant	-	NC_000012.12:g.112446337G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser28Arg	missense variant	-	NC_000012.12:g.112446343A>C	NCI-TCGA
NCI-TCGA novel	p.Phe29Cys	missense variant	-	NC_000012.12:g.112446347T>G	NCI-TCGA
COSM3456258	p.Pro33Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112446359C>T	NCI-TCGA Cosmic
rs934388335	p.Lys35Glu	missense variant	-	NC_000012.12:g.112446364A>G	gnomAD
rs1337565783	p.Asn37Lys	missense variant	-	NC_000012.12:g.112446372C>A	gnomAD
rs886041585	p.Gly39Arg	missense variant	-	NC_000012.12:g.112446376G>A	-
RCV000265572	p.Gly39Arg	missense variant	-	NC_000012.12:g.112446376G>A	ClinVar
rs397516795	p.Asp40Gly	missense variant	-	NC_000012.12:g.112446380A>G	-
rs397516795	p.Asp40Gly	missense variant	-	NC_000012.12:g.112446380A>G	NCI-TCGA
RCV000037607	p.Asp40Gly	missense variant	-	NC_000012.12:g.112446380A>G	ClinVar
rs397507501	p.Thr42Ala	missense variant	-	NC_000012.12:g.112446385A>G	-
RCV000157675	p.Thr42Ala	missense variant	-	NC_000012.12:g.112446385A>G	ClinVar
RCV000227194	p.Thr42Ala	missense variant	Rasopathy	NC_000012.12:g.112446385A>G	ClinVar
RCV000157002	p.Thr42Ala	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112446385A>G	ClinVar
RCV000680807	p.Leu43Phe	missense variant	-	NC_000012.12:g.112446388C>T	ClinVar
RCV000805888	p.Leu43Phe	missense variant	Rasopathy	NC_000012.12:g.112446388C>T	ClinVar
COSM4718910	p.Val45Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112446394G>A	NCI-TCGA Cosmic
rs765495843	p.Asn48Ser	missense variant	-	NC_000012.12:g.112450323A>G	ExAC,gnomAD
rs587778636	p.Ala50Thr	missense variant	-	NC_000012.12:g.112450328G>A	ExAC,gnomAD
RCV000121912	p.Ala50Thr	missense variant	-	NC_000012.12:g.112450328G>A	ClinVar
COSM13993	p.Thr52Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112450335C>G	NCI-TCGA Cosmic
rs397507503	p.Thr52Ile	missense variant	-	NC_000012.12:g.112450335C>T	-
RCV000809051	p.Thr52Ile	missense variant	Rasopathy	NC_000012.12:g.112450335C>T	ClinVar
COSM1677359	p.Ile54Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112450341T>C	NCI-TCGA Cosmic
COSM935274	p.Lys55Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112450345G>T	NCI-TCGA Cosmic
rs1261667540	p.Lys55Arg	missense variant	-	NC_000012.12:g.112450344A>G	TOPMed
RCV000154561	p.Ile56Val	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450346A>G	ClinVar
rs1052382672	p.Ile56Thr	missense variant	-	NC_000012.12:g.112450347T>C	TOPMed
RCV000531774	p.Ile56Thr	missense variant	Rasopathy	NC_000012.12:g.112450347T>C	ClinVar
rs397507505	p.Asn58Tyr	missense variant	-	NC_000012.12:g.112450352A>T	-
rs397507505	p.Asn58Asp	missense variant	-	NC_000012.12:g.112450352A>G	-
RCV000780655	p.Asn58Ser	missense variant	-	NC_000012.12:g.112450353A>G	ClinVar
RCV000413828	p.Asn58Ser	missense variant	-	NC_000012.12:g.112450353A>G	ClinVar
rs397507505	p.Asn58His	missense variant	-	NC_000012.12:g.112450352A>C	-
RCV000768061	p.Asn58Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450352A>G	ClinVar
RCV000587067	p.Asn58Lys	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450354C>A	ClinVar
RCV000037626	p.Asn58His	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450352A>C	ClinVar
RCV000556984	p.Asn58Lys	missense variant	Rasopathy	NC_000012.12:g.112450354C>A	ClinVar
RCV000033455	p.Asn58Asp	missense variant	-	NC_000012.12:g.112450352A>G	ClinVar
RCV000234028	p.Asn58Asp	missense variant	Rasopathy	NC_000012.12:g.112450352A>G	ClinVar
RCV000456871	p.Asn58His	missense variant	Rasopathy	NC_000012.12:g.112450352A>C	ClinVar
RCV000159042	p.Asn58Tyr	missense variant	-	NC_000012.12:g.112450352A>T	ClinVar
RCV000037629	p.Asn58Lys	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450354C>A	ClinVar
RCV000157676	p.Asn58His	missense variant	-	NC_000012.12:g.112450352A>C	ClinVar
rs751437780	p.Asn58Ser	missense variant	-	NC_000012.12:g.112450353A>G	ExAC,TOPMed,gnomAD
rs397507506	p.Asn58Lys	missense variant	-	NC_000012.12:g.112450354C>G	-
RCV000037627	p.Asn58Asp	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450352A>G	ClinVar
RCV000037630	p.Asn58Lys	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450354C>G	ClinVar
RCV000157677	p.Asn58Lys	missense variant	-	NC_000012.12:g.112450354C>A	ClinVar
RCV000691488	p.Asn58Ser	missense variant	Rasopathy	NC_000012.12:g.112450353A>G	ClinVar
rs886043790	p.Thr59Ala	missense variant	-	NC_000012.12:g.112450355A>G	TOPMed,gnomAD
RCV000390743	p.Thr59Ala	missense variant	-	NC_000012.12:g.112450355A>G	ClinVar
rs397507507	p.Gly60Ser	missense variant	-	NC_000012.12:g.112450358G>A	-
RCV000033461	p.Gly60Ala	missense variant	-	NC_000012.12:g.112450359G>C	ClinVar
RCV000413720	p.Gly60Arg	missense variant	-	NC_000012.12:g.112450358G>C	ClinVar
RCV000034327	p.Gly60Cys	missense variant	-	NC_000012.12:g.112450358G>T	ClinVar
rs1057517935	p.GlyAsp60GlyAsn	missense variant	-	NC_000012.12:g.112450360_112450361delinsAA	-
RCV000157700	p.Gly60Ser	missense variant	-	NC_000012.12:g.112450358G>A	ClinVar
RCV000416546	p.Gly60Ala	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450359G>C	ClinVar
rs397507507	p.Gly60Cys	missense variant	-	NC_000012.12:g.112450358G>T	-
rs397507507	p.Gly60Arg	missense variant	-	NC_000012.12:g.112450358G>C	-
RCV000459297	p.Gly60Ala	missense variant	Rasopathy	NC_000012.12:g.112450359G>C	ClinVar
RCV000049228	p.Gly60Val	missense variant	-	NC_000012.12:g.112450359G>T	ClinVar
RCV000037631	p.Gly60Ala	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450359G>C	ClinVar
RCV000151684	p.Gly60Ser	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450358G>A	ClinVar
NCI-TCGA novel	p.Gly60Asp	missense variant	-	NC_000012.12:g.112450359G>A	NCI-TCGA
rs397507510	p.Asp61Asn	missense variant	-	NC_000012.12:g.112450361G>A	-
rs397507510	p.Asp61His	missense variant	-	NC_000012.12:g.112450361G>C	-
RCV000215649	p.Asp61Tyr	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112450361G>T	ClinVar
rs121918461	p.Asp61Val	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450362A>T	UniProt,dbSNP
VAR_015991	p.Asp61Val	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450362A>T	UniProt
RCV000589874	p.Asp61His	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450361G>C	ClinVar
RCV000033463	p.Asp61Asn	missense variant	Rasopathy	NC_000012.12:g.112450361G>A	ClinVar
RCV000576434	p.Asp61Asn	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450361G>A	ClinVar
RCV000157678	p.Asp61Asn	missense variant	-	NC_000012.12:g.112450361G>A	ClinVar
RCV000586404	p.Asp61Asn	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450361G>A	ClinVar
RCV000824738	p.Asp61Gly	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450362A>G	ClinVar
RCV000077856	p.Asp61Gly	missense variant	-	NC_000012.12:g.112450362A>G	ClinVar
RCV000599619	p.Asp61Asn	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450361G>A	ClinVar
RCV000033462	p.Asp61His	missense variant	-	NC_000012.12:g.112450361G>C	ClinVar
RCV000156984	p.Asp61Gly	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450362A>G	ClinVar
RCV000033464	p.Asp61Gly	missense variant	Rasopathy	NC_000012.12:g.112450362A>G	ClinVar
RCV000014258	p.Asp61Gly	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450362A>G	ClinVar
RCV000626829	p.Asp61Gly	missense variant	-	NC_000012.12:g.112450362A>G	ClinVar
rs121918461	p.Asp61Gly	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450362A>G	-
rs397507510	p.Asp61Tyr	missense variant	-	NC_000012.12:g.112450361G>T	-
rs121918461	p.Asp61Gly	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450362A>G	UniProt,dbSNP
VAR_015603	p.Asp61Gly	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450362A>G	UniProt
rs121918461	p.Asp61Ala	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450362A>C	-
RCV000412983	p.Asp61Asn	missense variant	-	NC_000012.12:g.112450360_112450361delinsAA	ClinVar
RCV000156008	p.Asp61Ala	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450362A>C	ClinVar
rs121918460	p.Tyr62Asp	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450364T>G	ExAC,gnomAD
rs121918460	p.Tyr62Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450364T>G	UniProt,dbSNP
VAR_015605	p.Tyr62Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450364T>G	UniProt
RCV000153794	p.Tyr62Asp	missense variant	-	NC_000012.12:g.112450364T>G	ClinVar
RCV000762882	p.Tyr62Asp	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112450364T>G	ClinVar
RCV000590972	p.Tyr62Asp	missense variant	Secundum atrial septal defect	NC_000012.12:g.112450364T>G	ClinVar
RCV000014257	p.Tyr62Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450364T>G	ClinVar
RCV000824739	p.Tyr62Asp	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450364T>G	ClinVar
rs121918460	p.Tyr62Asn	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450364T>A	ExAC,gnomAD
rs1013419211	p.Tyr62Cys	missense variant	-	NC_000012.12:g.112450365A>G	TOPMed,gnomAD
RCV000033466	p.Tyr62Asp	missense variant	Rasopathy	NC_000012.12:g.112450364T>G	ClinVar
RCV000156993	p.Tyr62Asp	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450364T>G	ClinVar
NCI-TCGA novel	p.Tyr62Ter	stop gained	-	NC_000012.12:g.112450366C>G	NCI-TCGA
rs121918459	p.Tyr63Cys	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450368A>G	UniProt,dbSNP
VAR_015606	p.Tyr63Cys	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450368A>G	UniProt
rs121918459	p.Tyr63Cys	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450368A>G	ExAC,TOPMed,gnomAD
RCV000077857	p.Tyr63Cys	missense variant	-	NC_000012.12:g.112450368A>G	ClinVar
RCV000033468	p.Tyr63Cys	missense variant	Rasopathy	NC_000012.12:g.112450368A>G	ClinVar
RCV000588678	p.Tyr63Cys	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450368A>G	ClinVar
rs1057517917	p.Tyr63Cys	missense variant	-	NC_000012.12:g.112450368_112450369delinsGC	-
RCV000413931	p.Tyr63Cys	missense variant	-	NC_000012.12:g.112450368_112450369delinsGC	ClinVar
RCV000722014	p.Tyr63Cys	missense variant	Lymphoma	NC_000012.12:g.112450368A>G	ClinVar
RCV000515408	p.Tyr63Cys	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450368A>G	ClinVar
RCV000157000	p.Tyr63Cys	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450368A>G	ClinVar
RCV000014261	p.Tyr63Cys	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450368A>G	ClinVar
NCI-TCGA novel	p.Asp64Gly	missense variant	-	NC_000012.12:g.112450371A>G	NCI-TCGA
RCV000037633	p.Glu69Gln	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450385G>C	ClinVar
RCV000033469	p.Glu69Gln	missense variant	Rasopathy	NC_000012.12:g.112450385G>C	ClinVar
RCV000589756	p.Glu69Val	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450386A>T	ClinVar
RCV000210038	p.Glu69Lys	missense variant	-	NC_000012.12:g.112450385G>A	ClinVar
RCV000151687	p.Glu69Val	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450386A>T	ClinVar
RCV000212889	p.Glu69Gln	missense variant	-	NC_000012.12:g.112450385G>C	ClinVar
rs397507511	p.Glu69Lys	missense variant	-	NC_000012.12:g.112450385G>A	ExAC
rs397507511	p.Glu69Gln	missense variant	-	NC_000012.12:g.112450385G>C	ExAC
NCI-TCGA novel	p.Glu69Asp	missense variant	-	NC_000012.12:g.112450387G>T	NCI-TCGA
RCV000206837	p.Lys70Arg	missense variant	Rasopathy	NC_000012.12:g.112450389A>G	ClinVar
RCV000405696	p.Lys70Arg	missense variant	-	NC_000012.12:g.112450389A>G	ClinVar
rs755709231	p.Phe71Cys	missense variant	-	NC_000012.12:g.112450392T>G	ExAC,gnomAD
COSM13029	p.Phe71Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112450393T>A	NCI-TCGA Cosmic
RCV000593077	p.Phe71Leu	missense variant	-	NC_000012.12:g.112450393T>G	ClinVar
RCV000159044	p.Phe71Val	missense variant	-	NC_000012.12:g.112450391T>G	ClinVar
RCV000586528	p.Phe71Leu	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450391T>C	ClinVar
rs397507512	p.Phe71Val	missense variant	-	NC_000012.12:g.112450391T>G	-
rs397507512	p.Phe71Leu	missense variant	-	NC_000012.12:g.112450391T>C	-
rs1555267558	p.Phe71Leu	missense variant	-	NC_000012.12:g.112450393T>G	-
RCV000151689	p.Phe71Leu	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450391T>C	ClinVar
RCV000534502	p.Phe71Leu	missense variant	Rasopathy	NC_000012.12:g.112450393T>G	ClinVar
VAR_015994	p.Phe71Lys	Missense	-	-	UniProt
rs121918454	p.Ala72Val	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450395C>T	-
rs121918454	p.Ala72Val	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450395C>T	UniProt,dbSNP
VAR_015997	p.Ala72Val	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450395C>T	UniProt
RCV000212890	p.Ala72Ser	missense variant	-	NC_000012.12:g.112450394G>T	ClinVar
RCV000014252	p.Ala72Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450394G>T	ClinVar
RCV000033471	p.Ala72Ser	missense variant	Rasopathy	NC_000012.12:g.112450394G>T	ClinVar
RCV000440942	p.Ala72Asp	missense variant	Neoplasm of brain	NC_000012.12:g.112450395C>A	ClinVar
RCV000707460	p.Ala72Gly	missense variant	Rasopathy	NC_000012.12:g.112450395C>G	ClinVar
RCV000430256	p.Ala72Asp	missense variant	Chronic lymphocytic leukemia (CLL)	NC_000012.12:g.112450395C>A	ClinVar
RCV000576667	p.Ala72Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450394G>T	ClinVar
RCV000033472	p.Ala72Pro	missense variant	-	NC_000012.12:g.112450394G>C	ClinVar
RCV000680626	p.Ala72Thr	missense variant	-	NC_000012.12:g.112450394G>A	ClinVar
RCV000014253	p.Ala72Gly	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450395C>G	ClinVar
RCV000413699	p.Ala72Val	missense variant	-	NC_000012.12:g.112450395C>T	ClinVar
RCV000441142	p.Ala72Asp	missense variant	Neuroblastoma (NBLST1)	NC_000012.12:g.112450395C>A	ClinVar
RCV000157001	p.Ala72Ser	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450394G>T	ClinVar
RCV000762883	p.Ala72Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450394G>T	ClinVar
RCV000420417	p.Ala72Asp	missense variant	Acute myeloid leukemia (AML)	NC_000012.12:g.112450395C>A	ClinVar
RCV000157006	p.Ala72Gly	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450395C>G	ClinVar
rs121918454	p.Ala72Gly	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450395C>G	UniProt,dbSNP
VAR_015607	p.Ala72Gly	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450395C>G	UniProt
rs121918453	p.Ala72Thr	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450394G>A	UniProt,dbSNP
VAR_015996	p.Ala72Thr	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450394G>A	UniProt
rs121918453	p.Ala72Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450394G>T	UniProt,dbSNP
VAR_015608	p.Ala72Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450394G>T	UniProt
rs121918453	p.Ala72Ser	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450394G>T	-
RCV000157679	p.Ala72Gly	missense variant	-	NC_000012.12:g.112450395C>G	ClinVar
RCV000587329	p.Ala72Gly	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450395C>G	ClinVar
RCV000515213	p.Ala72Gly	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450395C>G	ClinVar
rs397507513	p.Thr73Pro	missense variant	-	NC_000012.12:g.112450397A>C	-
RCV000515312	p.Thr73Ile	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450398C>T	ClinVar
RCV000037637	p.Thr73Leu	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450397_112450398delinsCT	ClinVar
RCV000014262	p.Thr73Ile	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450398C>T	ClinVar
RCV000033475	p.Thr73Ile	missense variant	Rasopathy	NC_000012.12:g.112450398C>T	ClinVar
rs397516802	p.Thr73Leu	missense variant	-	NC_000012.12:g.112450397_112450398delinsCT	-
rs121918462	p.Thr73Ile	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450398C>T	-
rs121918462	p.Thr73Ile	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450398C>T	UniProt,dbSNP
VAR_015609	p.Thr73Ile	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450398C>T	UniProt
RCV000033474	p.Thr73Pro	missense variant	-	NC_000012.12:g.112450397A>C	ClinVar
RCV000156985	p.Thr73Ile	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450398C>T	ClinVar
RCV000212891	p.Thr73Ile	missense variant	-	NC_000012.12:g.112450398C>T	ClinVar
NCI-TCGA novel	p.Thr73Ala	missense variant	-	NC_000012.12:g.112450397A>G	NCI-TCGA
RCV000528111	p.Ala75Pro	missense variant	Rasopathy	NC_000012.12:g.112450403G>C	ClinVar
rs1456360392	p.Ala75Gly	missense variant	-	NC_000012.12:g.112450404C>G	gnomAD
rs1555267561	p.Ala75Pro	missense variant	-	NC_000012.12:g.112450403G>C	-
rs121918465	p.Glu76Val	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450407A>T	UniProt,dbSNP
VAR_016001	p.Glu76Val	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450407A>T	UniProt
RCV000472904	p.Glu76Asp	missense variant	Rasopathy	NC_000012.12:g.112450408G>C	ClinVar
RCV000033479	p.Glu76Asp	missense variant	-	NC_000012.12:g.112450408G>C	ClinVar
RCV000422851	p.Glu76Lys	missense variant	Multiple myeloma (MM)	NC_000012.12:g.112450406G>A	ClinVar
RCV000437931	p.Glu76Gly	missense variant	Multiple myeloma (MM)	NC_000012.12:g.112450407A>G	ClinVar
RCV000781775	p.Glu76Val	missense variant	Rasopathy	NC_000012.12:g.112450407A>T	ClinVar
RCV000427060	p.Glu76Gly	missense variant	Squamous cell lung carcinoma	NC_000012.12:g.112450407A>G	ClinVar
RCV000254683	p.Glu76Asp	missense variant	-	NC_000012.12:g.112450408G>T	ClinVar
RCV000033478	p.Glu76Asp	missense variant	Rasopathy	NC_000012.12:g.112450408G>T	ClinVar
RCV000419574	p.Glu76Gly	missense variant	Neoplasm of the large intestine	NC_000012.12:g.112450407A>G	ClinVar
RCV000432364	p.Glu76Lys	missense variant	Astrocytoma	NC_000012.12:g.112450406G>A	ClinVar
RCV000788241	p.Glu76Val	missense variant	-	NC_000012.12:g.112450407A>T	ClinVar
RCV000420699	p.Glu76Gly	missense variant	Astrocytoma	NC_000012.12:g.112450407A>G	ClinVar
RCV000433549	p.Glu76Lys	missense variant	Squamous cell lung carcinoma	NC_000012.12:g.112450406G>A	ClinVar
RCV000422541	p.Glu76Lys	missense variant	Neuroblastoma (NBLST1)	NC_000012.12:g.112450406G>A	ClinVar
RCV000033477	p.Glu76Ala	missense variant	-	NC_000012.12:g.112450407A>C	ClinVar
rs397507514	p.Glu76Asp	missense variant	-	NC_000012.12:g.112450408G>T	-
rs397507514	p.Glu76Asp	missense variant	-	NC_000012.12:g.112450408G>C	-
rs121918464	p.Glu76Lys	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450406G>A	UniProt,dbSNP
VAR_016000	p.Glu76Lys	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450406G>A	UniProt
rs121918465	p.Glu76Ala	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450407A>C	UniProt,dbSNP
VAR_015998	p.Glu76Ala	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450407A>C	UniProt
RCV000037638	p.Glu76Asp	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450408G>C	ClinVar
RCV000762884	p.Glu76Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450408G>T	ClinVar
RCV000037639	p.Glu76Asp	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450408G>T	ClinVar
rs121918465	p.Glu76Gly	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450407A>G	UniProt,dbSNP
VAR_015999	p.Glu76Gly	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112450407A>G	UniProt
rs121918465	p.Glu76Gly	missense variant	Juvenile myelomonocytic leukemia (jmml)	NC_000012.12:g.112450407A>G	-
RCV000014265	p.Glu76Val	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112450407A>T	ClinVar
RCV000439757	p.Glu76Lys	missense variant	Neoplasm of the large intestine	NC_000012.12:g.112450406G>A	ClinVar
RCV000014267	p.Glu76Ala	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112450407A>C	ClinVar
RCV000437713	p.Glu76Gly	missense variant	Neuroblastoma (NBLST1)	NC_000012.12:g.112450407A>G	ClinVar
RCV000159045	p.Glu76Gln	missense variant	-	NC_000012.12:g.112450406G>C	ClinVar
rs397516803	p.Gln79Lys	missense variant	-	NC_000012.12:g.112450415C>A	-
rs121918466	p.Gln79Arg	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112450416A>G	-
rs121918466	p.Gln79Arg	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450416A>G	UniProt,dbSNP
VAR_015611	p.Gln79Arg	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450416A>G	UniProt
RCV000515381	p.Gln79Arg	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450416A>G	ClinVar
RCV000157680	p.Gln79Arg	missense variant	-	NC_000012.12:g.112450416A>G	ClinVar
RCV000590740	p.Gln79Arg	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450416A>G	ClinVar
RCV000037641	p.Gln79Arg	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450416A>G	ClinVar
rs748952554	p.Gln79His	missense variant	-	NC_000012.12:g.112450417G>C	ExAC,gnomAD
RCV000037640	p.Gln79Lys	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450415C>A	ClinVar
RCV000033480	p.Gln79Arg	missense variant	Rasopathy	NC_000012.12:g.112450416A>G	ClinVar
RCV000014268	p.Gln79Arg	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112450416A>G	ClinVar
VAR_027186	p.Gln79Pro	Missense	Noonan syndrome 1 (NS1) [MIM:163950]	-	UniProt
rs1403012975	p.Met82Lys	missense variant	-	NC_000012.12:g.112450425T>A	gnomAD
rs397507515	p.Met82Val	missense variant	-	NC_000012.12:g.112450424A>G	gnomAD
RCV000522529	p.Met82Val	missense variant	Rasopathy	NC_000012.12:g.112450424A>G	ClinVar
RCV000724722	p.Met82Val	missense variant	-	NC_000012.12:g.112450424A>G	ClinVar
rs1319495648	p.Glu83Lys	missense variant	-	NC_000012.12:g.112450427G>A	gnomAD
rs925129380	p.Gly86Trp	missense variant	-	NC_000012.12:g.112450436G>T	TOPMed
rs925129380	p.Gly86Arg	missense variant	-	NC_000012.12:g.112450436G>A	TOPMed
RCV000210044	p.Lys91Arg	missense variant	-	NC_000012.12:g.112450452A>G	ClinVar
rs869312744	p.Lys91Arg	missense variant	-	NC_000012.12:g.112450452A>G	gnomAD
rs1225001423	p.Gly93Arg	missense variant	-	NC_000012.12:g.112450457G>C	TOPMed
RCV000033482	p.Glu97Gln	missense variant	-	NC_000012.12:g.112450469G>C	ClinVar
rs397507516	p.Glu97Gln	missense variant	-	NC_000012.12:g.112450469G>C	ExAC,gnomAD
RCV000024261	p.Lys99Ter	nonsense	Metachondromatosis (METCDS)	NC_000012.12:g.112450475A>T	ClinVar
rs387907158	p.Lys99Ter	stop gained	Metachondromatosis (metcds)	NC_000012.12:g.112450475A>T	-
rs747470140	p.Pro101Ala	missense variant	-	NC_000012.12:g.112450481C>G	ExAC,gnomAD
RCV000157021	p.Asp106Ala	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112450497A>C	ClinVar
rs397507517	p.Asp106Ala	missense variant	-	NC_000012.12:g.112450497A>C	-
RCV000033483	p.Asp106Ala	missense variant	Rasopathy	NC_000012.12:g.112450497A>C	ClinVar
RCV000212893	p.Asp106Ala	missense variant	-	NC_000012.12:g.112450497A>C	ClinVar
rs397507519	p.Glu110Ala	missense variant	-	NC_000012.12:g.112450509A>C	-
RCV000033485	p.Glu110Ala	missense variant	-	NC_000012.12:g.112450509A>C	ClinVar
RCV000589214	p.Glu110Lys	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112450508G>A	ClinVar
RCV000681127	p.Glu110Asp	missense variant	-	NC_000012.12:g.112450510A>C	ClinVar
COSM3456259	p.His114Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112453202C>T	NCI-TCGA Cosmic
rs1482410266	p.His116Gln	missense variant	-	NC_000012.12:g.112453210T>G	gnomAD
rs1053009990	p.His116Tyr	missense variant	-	NC_000012.12:g.112453208C>T	gnomAD
RCV000594318	p.His116Gln	missense variant	-	NC_000012.12:g.112453210T>A	ClinVar
rs1482410266	p.His116Gln	missense variant	-	NC_000012.12:g.112453210T>A	gnomAD
COSM467817	p.Leu117Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112453211C>T	NCI-TCGA Cosmic
RCV000024257	p.Ser118Ter	frameshift	Metachondromatosis (METCDS)	NC_000012.12:g.112453211_112453212CT[2]	ClinVar
RCV000288839	p.Glu123Asp	missense variant	-	NC_000012.12:g.112453231G>T	ClinVar
RCV000810975	p.Glu123Asp	missense variant	Rasopathy	NC_000012.12:g.112453231G>T	ClinVar
rs755619262	p.Glu123Asp	missense variant	-	NC_000012.12:g.112453231G>T	ExAC,gnomAD
rs1401305712	p.Lys129Glu	missense variant	-	NC_000012.12:g.112453247A>G	TOPMed
rs397516805	p.Lys131Arg	missense variant	-	NC_000012.12:g.112453254A>G	ExAC,TOPMed,gnomAD
RCV000680297	p.Lys131Arg	missense variant	-	NC_000012.12:g.112453254A>G	ClinVar
COSM4038880	p.Leu136His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112453269T>A	NCI-TCGA Cosmic
RCV000024255	p.Val137Ter	frameshift	Metachondromatosis (METCDS)	NC_000012.12:g.112453271_112453275del	ClinVar
rs267606989	p.Arg138Ter	stop gained	Metachondromatosis (metcds)	NC_000012.12:g.112453274C>T	gnomAD
RCV000014276	p.Arg138Ter	nonsense	Metachondromatosis (METCDS)	NC_000012.12:g.112453274C>T	ClinVar
rs1385944040	p.Arg138Gln	missense variant	-	NC_000012.12:g.112453275G>A	gnomAD
rs397507520	p.Glu139Asp	missense variant	-	NC_000012.12:g.112453279G>T	-
RCV000824742	p.Glu139Asp	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112453279G>T	ClinVar
RCV000585988	p.Glu139Asp	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112453279G>C	ClinVar
RCV000212894	p.Glu139Asp	missense variant	-	NC_000012.12:g.112453279G>T	ClinVar
RCV000157007	p.Glu139Asp	missense variant	-	NC_000012.12:g.112453279G>C	ClinVar
RCV000824741	p.Glu139Asp	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112453279G>C	ClinVar
RCV000033491	p.Glu139Asp	missense variant	Rasopathy	NC_000012.12:g.112453279G>C	ClinVar
RCV000617179	p.Glu139Asp	missense variant	-	NC_000012.12:g.112453279G>C	ClinVar
RCV000357736	p.Glu139Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112453279G>C	ClinVar
RCV000623400	p.Glu139Asp	missense variant	Inborn genetic diseases	NC_000012.12:g.112453279G>C	ClinVar
rs397507520	p.Glu139Asp	missense variant	-	NC_000012.12:g.112453279G>C	-
RCV000626830	p.Glu139Asp	missense variant	Hypertrophic cardiomyopathy	NC_000012.12:g.112453279G>C	ClinVar
RCV000521568	p.Glu139Asp	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112453279G>C	ClinVar
RCV000033490	p.Glu139Asp	missense variant	Rasopathy	NC_000012.12:g.112453279G>T	ClinVar
RCV000515221	p.Glu139Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112453279G>C	ClinVar
RCV000077858	p.Glu139Asp	missense variant	-	NC_000012.12:g.112453279G>C	ClinVar
RCV000472224	p.Ser140Cys	missense variant	Rasopathy	NC_000012.12:g.112453280A>T	ClinVar
rs1060502527	p.Ser140Cys	missense variant	-	NC_000012.12:g.112453280A>T	-
NCI-TCGA novel	p.Ser142Asn	missense variant	-	NC_000012.12:g.112453287G>A	NCI-TCGA
rs1296689385	p.His143Arg	missense variant	-	NC_000012.12:g.112453290A>G	gnomAD
COSM935275	p.Asp146Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112453298G>T	NCI-TCGA Cosmic
rs1179862540	p.Phe147Cys	missense variant	-	NC_000012.12:g.112453302T>G	gnomAD
RCV000681211	p.Phe147Cys	missense variant	-	NC_000012.12:g.112453302T>G	ClinVar
rs768927453	p.Val151Leu	missense variant	-	NC_000012.12:g.112453313G>C	ExAC,gnomAD
rs202026962	p.Val151Ala	missense variant	-	NC_000012.12:g.112453314T>C	1000Genomes
rs1395524782	p.Arg152Cys	missense variant	-	NC_000012.12:g.112453316C>T	TOPMed
rs397507521	p.Arg152His	missense variant	-	NC_000012.12:g.112453317G>A	ExAC,TOPMed,gnomAD
RCV000121913	p.Arg152His	missense variant	-	NC_000012.12:g.112453317G>A	ClinVar
rs1380290210	p.Thr153Ala	missense variant	-	NC_000012.12:g.112453319A>G	TOPMed,gnomAD
RCV000024256	p.Thr153Ter	frameshift	Metachondromatosis (METCDS)	NC_000012.12:g.112453320_112453325delinsAAGAACACAGGGGAGAGCA	ClinVar
rs376027245	p.Gly154Ala	missense variant	-	NC_000012.12:g.112453323G>C	ESP,ExAC,TOPMed,gnomAD
RCV000521157	p.Gly154Ala	missense variant	-	NC_000012.12:g.112453323G>C	ClinVar
COSM1358893	p.Asp155Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112453325G>A	NCI-TCGA Cosmic
COSM259200	p.Asp155Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112453325G>T	NCI-TCGA Cosmic
rs200712424	p.Asp156Gly	missense variant	-	NC_000012.12:g.112453329A>G	1000Genomes
NCI-TCGA novel	p.Asp156Asn	missense variant	-	NC_000012.12:g.112453328G>A	NCI-TCGA
rs1315568280	p.Lys157Arg	missense variant	-	NC_000012.12:g.112453332A>G	gnomAD
rs1555267825	p.Gly158Ala	missense variant	-	NC_000012.12:g.112453335G>C	-
RCV000578106	p.Gly158Ala	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112453335G>C	ClinVar
RCV000578050	p.Gly158Ala	missense variant	Metachondromatosis (METCDS)	NC_000012.12:g.112453335G>C	ClinVar
RCV000577992	p.Gly158Ala	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112453335G>C	ClinVar
rs769848611	p.Glu159Asp	missense variant	-	NC_000012.12:g.112453339G>C	ExAC,gnomAD
RCV000159047	p.Gly163Ser	missense variant	Rasopathy	NC_000012.12:g.112453349G>A	ClinVar
rs730880992	p.Gly163Cys	missense variant	-	NC_000012.12:g.112453349G>T	ExAC,TOPMed,gnomAD
rs730880992	p.Gly163Ser	missense variant	-	NC_000012.12:g.112453349G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly163Asp	missense variant	-	NC_000012.12:g.112453350G>A	NCI-TCGA
rs1460204712	p.Val167Ala	missense variant	-	NC_000012.12:g.112453362T>C	gnomAD
NCI-TCGA novel	p.Thr168Ala	missense variant	-	NC_000012.12:g.112453364A>G	NCI-TCGA
RCV000681427	p.His169Ter	frameshift	-	NC_000012.12:g.112453367del	ClinVar
RCV000521204	p.Arg173Pro	missense variant	-	NC_000012.12:g.112453380G>C	ClinVar
rs369155025	p.Arg173Pro	missense variant	-	NC_000012.12:g.112453380G>C	ESP,ExAC,gnomAD
rs369155025	p.Arg173His	missense variant	-	NC_000012.12:g.112453380G>A	ESP,ExAC,gnomAD
rs369155025	p.Arg173Leu	missense variant	-	NC_000012.12:g.112453380G>T	ESP,ExAC,gnomAD
rs545138829	p.Arg173Cys	missense variant	-	NC_000012.12:g.112453379C>T	ExAC,gnomAD
rs1324123217	p.Cys174Tyr	missense variant	-	NC_000012.12:g.112453383G>A	gnomAD
rs1168475393	p.Gln175Glu	missense variant	-	NC_000012.12:g.112453385C>G	gnomAD
rs1290487642	p.Glu176Gly	missense variant	-	NC_000012.12:g.112454565A>G	gnomAD
rs760660964	p.Leu177Val	missense variant	-	NC_000012.12:g.112454567C>G	ExAC,gnomAD
COSM4641621	p.Asp180Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112454576G>A	NCI-TCGA Cosmic
COSM935276	p.Val181Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112454579G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly182Asp	missense variant	-	NC_000012.12:g.112454583G>A	NCI-TCGA
rs1238453850	p.Gly184Arg	missense variant	-	NC_000012.12:g.112454588G>A	TOPMed
rs764663951	p.Arg186Gln	missense variant	-	NC_000012.12:g.112454595G>A	ExAC,gnomAD
rs143433437	p.Arg186Trp	missense variant	-	NC_000012.12:g.112454594C>T	NCI-TCGA
rs143433437	p.Arg186Trp	missense variant	-	NC_000012.12:g.112454594C>T	ESP,ExAC,TOPMed,gnomAD
RCV000037651	p.Arg186Trp	missense variant	-	NC_000012.12:g.112454594C>T	ClinVar
RCV000522506	p.Asp188His	missense variant	-	NC_000012.12:g.112454600G>C	ClinVar
rs1436513335	p.Asp188Gly	missense variant	-	NC_000012.12:g.112454601A>G	TOPMed,gnomAD
rs1555267939	p.Asp188His	missense variant	-	NC_000012.12:g.112454600G>C	-
RCV000781777	p.Asp188Asn	missense variant	-	NC_000012.12:g.112454600G>A	ClinVar
rs79068130	p.Ser189Ala	missense variant	-	NC_000012.12:g.112454603T>G	ExAC,gnomAD
rs370763866	p.Thr191Arg	missense variant	-	NC_000012.12:g.112454610C>G	ExAC,gnomAD
rs370763866	p.Thr191Lys	missense variant	-	NC_000012.12:g.112454610C>A	ExAC,gnomAD
rs1488672907	p.Asp192Tyr	missense variant	-	NC_000012.12:g.112454612G>T	gnomAD
rs1181200121	p.Glu195Lys	missense variant	-	NC_000012.12:g.112454621G>A	TOPMed,gnomAD
rs753107691	p.Glu195Asp	missense variant	-	NC_000012.12:g.112454623A>C	ExAC,gnomAD
rs76982592	p.Tyr197Ter	stop gained	-	NC_000012.12:g.112454629T>G	ExAC,gnomAD
rs1266830703	p.Tyr197Cys	missense variant	-	NC_000012.12:g.112454628A>G	gnomAD
NCI-TCGA novel	p.Lys199Asn	missense variant	-	NC_000012.12:g.112454635G>T	NCI-TCGA
RCV000151696	p.Asn200Tyr	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112454636A>T	ClinVar
rs727503381	p.Asn200Tyr	missense variant	-	NC_000012.12:g.112454636A>T	gnomAD
NCI-TCGA novel	p.Val209Ala	missense variant	-	NC_000012.12:g.112454664T>C	NCI-TCGA
COSM3986647	p.Gln214Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112454678C>A	NCI-TCGA Cosmic
rs747243342	p.Asn217Lys	missense variant	-	NC_000012.12:g.112455958C>G	ExAC,gnomAD
RCV000589400	p.Thr218Ser	missense variant	-	NC_000012.12:g.112455959A>T	ClinVar
rs768555552	p.Thr218Ala	missense variant	-	NC_000012.12:g.112455959A>G	ExAC,gnomAD
RCV000597366	p.Thr218Ala	missense variant	-	NC_000012.12:g.112455959A>G	ClinVar
rs768555552	p.Thr218Ser	missense variant	-	NC_000012.12:g.112455959A>T	ExAC,gnomAD
rs1201590326	p.Thr218Lys	missense variant	-	NC_000012.12:g.112455960C>A	gnomAD
NCI-TCGA novel	p.Thr219Ala	missense variant	-	NC_000012.12:g.112455962A>G	NCI-TCGA
RCV000037654	p.Arg220Ter	nonsense	Metachondromatosis (METCDS)	NC_000012.12:g.112455968del	ClinVar
rs780911423	p.Arg220His	missense variant	-	NC_000012.12:g.112455966G>A	ExAC,gnomAD
RCV000037653	p.Ile221Leu	missense variant	-	NC_000012.12:g.112455968A>T	ClinVar
RCV000159048	p.Ile221Val	missense variant	-	NC_000012.12:g.112455968A>G	ClinVar
rs397516806	p.Ile221Leu	missense variant	-	NC_000012.12:g.112455968A>T	gnomAD
rs397516806	p.Ile221Val	missense variant	-	NC_000012.12:g.112455968A>G	gnomAD
COSM692039	p.Glu225Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.112455980G>T	NCI-TCGA Cosmic
COSM1222515	p.Glu225Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112455982A>C	NCI-TCGA Cosmic
RCV000658340	p.Ser228Ile	missense variant	-	NC_000012.12:g.112455990G>T	ClinVar
rs748085966	p.Ser228Ile	missense variant	-	NC_000012.12:g.112455990G>T	ExAC,gnomAD
rs1239878972	p.Val230Ile	missense variant	-	NC_000012.12:g.112455995G>A	gnomAD
rs1223522089	p.Arg231Gln	missense variant	-	NC_000012.12:g.112455999G>A	TOPMed
NCI-TCGA novel	p.Glu232Ter	stop gained	-	NC_000012.12:g.112456001G>T	NCI-TCGA
RCV000159506	p.Ser234Asn	missense variant	-	NC_000012.12:g.112456008G>A	ClinVar
rs730881220	p.Ser234Asn	missense variant	-	NC_000012.12:g.112456008G>A	-
NCI-TCGA novel	p.Ser234Ile	missense variant	-	NC_000012.12:g.112456008G>T	NCI-TCGA
NCI-TCGA novel	p.Asp241Gly	missense variant	-	NC_000012.12:g.112456029A>G	NCI-TCGA
rs773918720	p.Thr253Ala	missense variant	-	NC_000012.12:g.112472944A>G	ExAC,gnomAD
rs771672596	p.Gln255Ter	stop gained	-	NC_000012.12:g.112472950C>T	ExAC,gnomAD
RCV000506790	p.Gln256Arg	missense variant	-	NC_000012.12:g.112472954A>G	ClinVar
RCV000585640	p.Gln256Arg	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112472954A>G	ClinVar
RCV000824743	p.Gln256Arg	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112472954A>G	ClinVar
RCV000680808	p.Gln256Lys	missense variant	-	NC_000012.12:g.112472953C>A	ClinVar
rs1391791847	p.Gln256Glu	missense variant	-	NC_000012.12:g.112472953C>G	gnomAD
rs1279770165	p.Glu258Gln	missense variant	-	NC_000012.12:g.112472959G>C	TOPMed,gnomAD
rs397516809	p.Glu258Asp	missense variant	-	NC_000012.12:g.112472961G>T	gnomAD
RCV000159049	p.Glu258Asp	missense variant	-	NC_000012.12:g.112472961G>T	ClinVar
NCI-TCGA novel	p.Glu258Ter	stop gained	-	NC_000012.12:g.112472959G>T	NCI-TCGA
rs1378752914	p.Cys259Ter	stop gained	-	NC_000012.12:g.112472964C>A	gnomAD
rs773417679	p.Lys260Arg	missense variant	-	NC_000012.12:g.112472966A>G	ExAC,TOPMed,gnomAD
rs765642157	p.Leu261His	missense variant	-	NC_000012.12:g.112472969T>A	ExAC,gnomAD
RCV000037657	p.Leu261Phe	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112472968C>T	ClinVar
RCV000522926	p.Leu261Phe	missense variant	Rasopathy	NC_000012.12:g.112472968C>T	ClinVar
RCV000354323	p.Leu261Arg	missense variant	-	NC_000012.12:g.112472969T>G	ClinVar
rs765642157	p.Leu261Arg	missense variant	-	NC_000012.12:g.112472969T>G	ExAC,gnomAD
rs397507525	p.Leu261Phe	missense variant	-	NC_000012.12:g.112472968C>T	gnomAD
RCV000157701	p.Leu261Phe	missense variant	-	NC_000012.12:g.112472968C>T	ClinVar
COSM3456261	p.Leu262Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112472971C>T	NCI-TCGA Cosmic
RCV000106324	p.Leu262Arg	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112472972T>G	ClinVar
rs397507526	p.Leu262Arg	missense variant	-	NC_000012.12:g.112472972T>G	ExAC,gnomAD
rs397507526	p.Leu262His	missense variant	-	NC_000012.12:g.112472972T>A	ExAC,gnomAD
VAR_078103	p.Leu262Phe	Missense	Noonan syndrome 1 (NS1) [MIM:163950]	-	UniProt
rs763617831	p.Tyr263Cys	missense variant	-	NC_000012.12:g.112472975A>G	ExAC,gnomAD
rs1193712005	p.Ser264Thr	missense variant	-	NC_000012.12:g.112472978G>C	gnomAD
RCV000723292	p.Arg265Gln	missense variant	PTPN11-related disorder	NC_000012.12:g.112472981G>A	ClinVar
RCV000153788	p.Arg265Gln	missense variant	-	NC_000012.12:g.112472981G>A	ClinVar
RCV000037658	p.Arg265Gln	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112472981G>A	ClinVar
rs376607329	p.Arg265Gln	missense variant	-	NC_000012.12:g.112472981G>A	ESP,ExAC,TOPMed,gnomAD
RCV000477501	p.Arg265Gln	missense variant	Rasopathy	NC_000012.12:g.112472981G>A	ClinVar
rs755104848	p.Glu267Asp	missense variant	-	NC_000012.12:g.112472988G>T	ExAC,gnomAD
rs397507527	p.Gly268Ser	missense variant	-	NC_000012.12:g.112472989G>A	ExAC,gnomAD
RCV000159050	p.Gly268Ser	missense variant	-	NC_000012.12:g.112472989G>A	ClinVar
RCV000037660	p.Gly268Cys	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112472989G>T	ClinVar
RCV000037659	p.Gly268Ser	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112472989G>A	ClinVar
rs397507527	p.Gly268Cys	missense variant	-	NC_000012.12:g.112472989G>T	ExAC,gnomAD
RCV000587886	p.Gly268Ser	missense variant	Rasopathy	NC_000012.12:g.112472989G>A	ClinVar
RCV000179850	p.Gln269Arg	missense variant	-	NC_000012.12:g.112472993A>G	ClinVar
rs794727858	p.Gln269Arg	missense variant	-	NC_000012.12:g.112472993A>G	-
rs752966396	p.Glu272Lys	missense variant	-	NC_000012.12:g.112473001G>A	ExAC
rs397507528	p.Asn275Thr	missense variant	-	NC_000012.12:g.112473011A>C	ExAC,TOPMed,gnomAD
rs1167080618	p.Asn275His	missense variant	-	NC_000012.12:g.112473010A>C	gnomAD
RCV000413183	p.Lys276Arg	missense variant	-	NC_000012.12:g.112473014A>G	ClinVar
rs777603059	p.Lys276Arg	missense variant	-	NC_000012.12:g.112473014A>G	ExAC,TOPMed,gnomAD
rs121918456	p.Tyr279Ser	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112473023A>C	UniProt,dbSNP
VAR_027188	p.Tyr279Ser	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112473023A>C	UniProt
rs121918456	p.Tyr279Ser	missense variant	-	NC_000012.12:g.112473023A>C	-
rs121918456	p.Tyr279Cys	missense variant	-	NC_000012.12:g.112473023A>G	NCI-TCGA,NCI-TCGA Cosmic
RCV000577894	p.Tyr279Cys	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473023A>G	ClinVar
RCV000055889	p.Tyr279Ser	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112473023A>C	ClinVar
rs121918456	p.Tyr279Cys	missense variant	-	NC_000012.12:g.112473023A>G	-
rs121918456	p.Tyr279Cys	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473023A>G	UniProt,dbSNP
VAR_015614	p.Tyr279Cys	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473023A>G	UniProt
rs397507529	p.Ile282Val	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473031A>G	UniProt,dbSNP
VAR_015615	p.Ile282Val	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473031A>G	UniProt
rs397507529	p.Ile282Val	missense variant	-	NC_000012.12:g.112473031A>G	TOPMed
RCV000824745	p.Ile282Val	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112473031A>G	ClinVar
RCV000349409	p.Ile282Thr	missense variant	-	NC_000012.12:g.112473032T>C	ClinVar
RCV000077860	p.Ile282Val	missense variant	-	NC_000012.12:g.112473031A>G	ClinVar
RCV000624312	p.Ile282Val	missense variant	Inborn genetic diseases	NC_000012.12:g.112473031A>G	ClinVar
RCV000033505	p.Ile282Val	missense variant	Rasopathy	NC_000012.12:g.112473031A>G	ClinVar
rs397507530	p.Ile282Met	missense variant	-	NC_000012.12:g.112473033C>G	NCI-TCGA,NCI-TCGA Cosmic
RCV000037661	p.Ile282Met	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112473033C>G	ClinVar
rs886041495	p.Ile282Thr	missense variant	-	NC_000012.12:g.112473032T>C	-
rs778374689	p.Leu283Met	missense variant	-	NC_000012.12:g.112473034C>A	ExAC,gnomAD
COSM3456262	p.Pro284Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112473038C>T	NCI-TCGA Cosmic
rs121918463	p.Phe285Cys	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112477651T>G	-
rs121918463	p.Phe285Ser	missense variant	-	NC_000012.12:g.112477651T>C	NCI-TCGA,NCI-TCGA Cosmic
rs121918463	p.Phe285Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477651T>C	UniProt,dbSNP
VAR_015616	p.Phe285Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477651T>C	UniProt
rs121918463	p.Phe285Ser	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112477651T>C	-
RCV000623706	p.Phe285Leu	missense variant	Inborn genetic diseases	NC_000012.12:g.112473040T>C	ClinVar
RCV000037665	p.Phe285Leu	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477652T>G	ClinVar
RCV000159051	p.Phe285Tyr	missense variant	-	NC_000012.12:g.112477651T>A	ClinVar
RCV000033513	p.Phe285Cys	missense variant	Rasopathy	NC_000012.12:g.112477651T>G	ClinVar
RCV000687570	p.Phe285Leu	missense variant	Rasopathy	NC_000012.12:g.112477652T>G	ClinVar
RCV000587757	p.Phe285Leu	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112477652T>G	ClinVar
RCV000159052	p.Phe285Leu	missense variant	-	NC_000012.12:g.112477652T>G	ClinVar
RCV000037663	p.Phe285Ser	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477651T>C	ClinVar
RCV000212895	p.Phe285Cys	missense variant	-	NC_000012.12:g.112477651T>G	ClinVar
RCV000077862	p.Phe285Ser	missense variant	-	NC_000012.12:g.112477651T>C	ClinVar
RCV000458650	p.Phe285Ser	missense variant	Rasopathy	NC_000012.12:g.112477651T>C	ClinVar
rs397516810	p.Phe285Leu	missense variant	-	NC_000012.12:g.112477652T>G	-
rs397507531	p.Phe285Leu	missense variant	-	NC_000012.12:g.112473040T>C	-
rs397507531	p.Phe285Leu	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473040T>C	UniProt,dbSNP
VAR_015617	p.Phe285Leu	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112473040T>C	UniProt
rs121918463	p.Phe285Tyr	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112477651T>A	-
RCV000014263	p.Phe285Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477651T>C	ClinVar
RCV000190417	p.Phe285Ser	missense variant	Early T cell progenitor acute lymphoblastic leukemia	NC_000012.12:g.112477651T>C	ClinVar
RCV000037664	p.Phe285Cys	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477651T>G	ClinVar
RCV000037666	p.Asp286Glu	missense variant	-	NC_000012.12:g.112477655T>A	ClinVar
rs397516811	p.Asp286Glu	missense variant	-	NC_000012.12:g.112477655T>A	-
rs1555269782	p.Val290Ile	missense variant	-	NC_000012.12:g.112477665G>A	-
RCV000590078	p.Val290Ile	missense variant	-	NC_000012.12:g.112477665G>A	ClinVar
rs1340811351	p.Val290Ala	missense variant	-	NC_000012.12:g.112477666T>C	gnomAD
rs1283049536	p.His293Tyr	missense variant	-	NC_000012.12:g.112477674C>T	gnomAD
rs117730996	p.His293Gln	missense variant	-	NC_000012.12:g.112477676C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000320986	p.His293Gln	missense variant	-	NC_000012.12:g.112477676C>G	ClinVar
rs746607246	p.Asp294Gly	missense variant	-	NC_000012.12:g.112477678A>G	ExAC,gnomAD
rs376007642	p.Asp294Asn	missense variant	-	NC_000012.12:g.112477677G>A	ESP,TOPMed,gnomAD
rs376007642	p.Asp294Tyr	missense variant	-	NC_000012.12:g.112477677G>T	ESP,TOPMed,gnomAD
rs1485809548	p.Pro297Ala	missense variant	-	NC_000012.12:g.112477686C>G	gnomAD
rs572274623	p.Asn298Ser	missense variant	-	NC_000012.12:g.112477690A>G	ExAC,TOPMed,gnomAD
RCV000208167	p.Asn298Ser	missense variant	Cardio-facio-cutaneous syndrome (CFC1)	NC_000012.12:g.112477690A>G	ClinVar
RCV000159053	p.Asn298Ser	missense variant	-	NC_000012.12:g.112477690A>G	ClinVar
rs888674339	p.Pro300Thr	missense variant	-	NC_000012.12:g.112477695C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Val301Ala	missense variant	-	NC_000012.12:g.112477699T>C	NCI-TCGA
RCV000159058	p.Ile305Val	missense variant	-	NC_000012.12:g.112477710A>G	ClinVar
rs730880995	p.Ile305Val	missense variant	-	NC_000012.12:g.112477710A>G	-
rs121918455	p.Asn308Thr	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112477720A>C	-
rs28933386	p.Asn308Asp	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112477719A>G	ESP,ExAC,TOPMed,gnomAD
rs28933386	p.Asn308Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477719A>G	UniProt,dbSNP
VAR_015619	p.Asn308Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477719A>G	UniProt
rs121918455	p.Asn308Ser	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112477720A>G	-
rs121918455	p.Asn308Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477720A>G	UniProt,dbSNP
VAR_015618	p.Asn308Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477720A>G	UniProt
RCV000622835	p.Asn308Asp	missense variant	Inborn genetic diseases	NC_000012.12:g.112477719A>G	ClinVar
RCV000621227	p.Asn308Asp	missense variant	-	NC_000012.12:g.112477719A>G	ClinVar
RCV000033516	p.Asn308Asp	missense variant	Rasopathy	NC_000012.12:g.112477719A>G	ClinVar
RCV000576594	p.Asn308Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477719A>G	ClinVar
RCV000014254	p.Asn308Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477719A>G	ClinVar
rs121918455	p.Asn308Ser	missense variant	-	NC_000012.12:g.112477720A>G	NCI-TCGA,NCI-TCGA Cosmic
RCV000515324	p.Asn308Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477719A>G	ClinVar
RCV000077863	p.Asn308Asp	missense variant	-	NC_000012.12:g.112477719A>G	ClinVar
RCV000156977	p.Asn308Asp	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477719A>G	ClinVar
RCV000033518	p.Asn308Ser	missense variant	Rasopathy	NC_000012.12:g.112477720A>G	ClinVar
RCV000157682	p.Asn308Ser	missense variant	-	NC_000012.12:g.112477720A>G	ClinVar
RCV000588570	p.Asn308Ser	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112477720A>G	ClinVar
RCV000037668	p.Asn308Thr	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477720A>C	ClinVar
RCV000515421	p.Asn308Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477720A>G	ClinVar
RCV000037669	p.Asn308Ser	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477720A>G	ClinVar
RCV000850589	p.Asn308Asp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477719A>G	ClinVar
rs28933386	p.Asn308Asp	missense variant	-	NC_000012.12:g.112477719A>G	NCI-TCGA,NCI-TCGA Cosmic
RCV000033517	p.Asn308Thr	missense variant	-	NC_000012.12:g.112477720A>C	ClinVar
RCV000014255	p.Asn308Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477720A>G	ClinVar
RCV000589645	p.Ile309Val	missense variant	-	NC_000012.12:g.112477722A>G	ClinVar
rs201787206	p.Ile309Val	missense variant	-	NC_000012.12:g.112477722A>G	ESP,ExAC,TOPMed,gnomAD
rs201787206	p.Ile309Val	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477722A>G	UniProt,dbSNP
VAR_015620	p.Ile309Val	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477722A>G	UniProt
RCV000151704	p.Ile309Val	missense variant	-	NC_000012.12:g.112477722A>G	ClinVar
NCI-TCGA novel	p.Ile309Met	missense variant	-	NC_000012.12:g.112477724C>G	NCI-TCGA
rs201226824	p.Met311Thr	missense variant	-	NC_000012.12:g.112477729T>C	1000Genomes,ExAC,gnomAD
RCV000412738	p.Met311Val	missense variant	-	NC_000012.12:g.112477728A>G	ClinVar
RCV000701867	p.Met311Val	missense variant	Rasopathy	NC_000012.12:g.112477728A>G	ClinVar
RCV000719260	p.Met311Val	missense variant	History of neurodevelopmental disorder	NC_000012.12:g.112477728A>G	ClinVar
rs774939392	p.Met311Val	missense variant	-	NC_000012.12:g.112477728A>G	ExAC,gnomAD
rs1340471856	p.Pro312Ala	missense variant	-	NC_000012.12:g.112477857C>G	TOPMed
rs1294377445	p.Pro312Leu	missense variant	-	NC_000012.12:g.112477858C>T	TOPMed
COSM6135786	p.Glu313Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.112477860G>T	NCI-TCGA Cosmic
RCV000761000	p.Phe314Leu	missense variant	Astrocytoma	NC_000012.12:g.112477863T>C	ClinVar
rs968167995	p.Phe314Leu	missense variant	-	NC_000012.12:g.112477863T>C	-
rs547041954	p.Thr316Ile	missense variant	-	NC_000012.12:g.112477870C>T	1000Genomes,ExAC,gnomAD
rs747815170	p.Cys318Tyr	missense variant	-	NC_000012.12:g.112477876G>A	ExAC,gnomAD
rs1333826013	p.Asn319Ser	missense variant	-	NC_000012.12:g.112477879A>G	TOPMed
rs771407775	p.Asn319Lys	missense variant	-	NC_000012.12:g.112477880C>G	ExAC,TOPMed,gnomAD
rs1398859175	p.Asn320Ser	missense variant	-	NC_000012.12:g.112477882A>G	TOPMed
RCV000625873	p.Asn320Ser	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112477882A>G	ClinVar
rs779400765	p.Pro323Ser	missense variant	-	NC_000012.12:g.112477890C>T	ExAC,TOPMed,gnomAD
rs779400765	p.Pro323Thr	missense variant	-	NC_000012.12:g.112477890C>A	ExAC,TOPMed,gnomAD
rs772684421	p.Lys324Arg	missense variant	-	NC_000012.12:g.112477894A>G	ExAC,TOPMed,gnomAD
rs1028787542	p.Tyr327Cys	missense variant	-	NC_000012.12:g.112477903A>G	TOPMed
rs369430257	p.Ile328Thr	missense variant	-	NC_000012.12:g.112477906T>C	ESP,ExAC,TOPMed,gnomAD
rs760769867	p.Ala329Thr	missense variant	-	NC_000012.12:g.112477908G>A	ExAC,TOPMed,gnomAD
rs730880993	p.Cys333Ser	missense variant	-	NC_000012.12:g.112477920T>A	-
RCV000159054	p.Cys333Ser	missense variant	-	NC_000012.12:g.112477920T>A	ClinVar
rs886041622	p.Gln335Pro	missense variant	-	NC_000012.12:g.112477927A>C	-
RCV000792044	p.Gln335Pro	missense variant	Rasopathy	NC_000012.12:g.112477927A>C	ClinVar
RCV000377606	p.Gln335Pro	missense variant	-	NC_000012.12:g.112477927A>C	ClinVar
rs1373621596	p.Arg343Trp	missense variant	-	NC_000012.12:g.112477950C>T	TOPMed,gnomAD
rs535800148	p.Arg343Gln	missense variant	-	NC_000012.12:g.112477951G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000519427	p.Arg343Gln	missense variant	Rasopathy	NC_000012.12:g.112477951G>A	ClinVar
RCV000159507	p.Arg343Gln	missense variant	-	NC_000012.12:g.112477951G>A	ClinVar
RCV000619897	p.Arg343Trp	missense variant	-	NC_000012.12:g.112477950C>T	ClinVar
NCI-TCGA novel	p.Met344Ile	missense variant	-	NC_000012.12:g.112477955G>A	NCI-TCGA
rs1317602687	p.Val345Met	missense variant	-	NC_000012.12:g.112477956G>A	NCI-TCGA
rs1317602687	p.Val345Met	missense variant	-	NC_000012.12:g.112477956G>A	TOPMed
rs1287780991	p.Glu348Val	missense variant	-	NC_000012.12:g.112477966A>T	gnomAD
rs1032908020	p.Asn349Asp	missense variant	-	NC_000012.12:g.112477968A>G	TOPMed,gnomAD
rs146571700	p.Ser350Ala	missense variant	-	NC_000012.12:g.112477971T>G	ESP,ExAC,TOPMed,gnomAD
RCV000763793	p.Ser350Ala	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112477971T>G	ClinVar
RCV000033523	p.Ser350Ala	missense variant	-	NC_000012.12:g.112477971T>G	ClinVar
RCV000373942	p.Arg351Gln	missense variant	-	NC_000012.12:g.112477975G>A	ClinVar
RCV000413347	p.Arg351Ter	nonsense	-	NC_000012.12:g.112477974C>T	ClinVar
rs923052172	p.Arg351Ter	stop gained	-	NC_000012.12:g.112477974C>T	-
rs397507534	p.Arg351Gln	missense variant	-	NC_000012.12:g.112477975G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs397507534	p.Arg351Leu	missense variant	-	NC_000012.12:g.112477975G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs767192602	p.Val352Leu	missense variant	-	NC_000012.12:g.112477977G>C	ExAC,gnomAD
rs752392909	p.Ile353Leu	missense variant	-	NC_000012.12:g.112477980A>C	ExAC,gnomAD
rs755871216	p.Thr357Ala	missense variant	-	NC_000012.12:g.112477992A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr357Met	missense variant	-	NC_000012.12:g.112477993C>T	NCI-TCGA
NCI-TCGA novel	p.Lys358Gln	missense variant	-	NC_000012.12:g.112477995A>C	NCI-TCGA
rs1337767914	p.Glu361Gln	missense variant	-	NC_000012.12:g.112478004G>C	TOPMed
NCI-TCGA novel	p.Arg362Lys	missense variant	-	NC_000012.12:g.112478008G>A	NCI-TCGA
rs988676659	p.Lys364Arg	missense variant	-	NC_000012.12:g.112478014A>G	TOPMed,gnomAD
RCV000781776	p.Ser365Arg	missense variant	-	NC_000012.12:g.112482074A>C	ClinVar
rs758737605	p.Val368Ile	missense variant	-	NC_000012.12:g.112482083G>A	ExAC,gnomAD
rs1555270113	p.Trp371Ter	stop gained	-	NC_000012.12:g.112482093G>A	-
RCV000599235	p.Trp371Ter	nonsense	-	NC_000012.12:g.112482093G>A	ClinVar
rs1338792040	p.Asp373Asn	missense variant	-	NC_000012.12:g.112482098G>A	gnomAD
rs780328721	p.Glu374Gly	missense variant	-	NC_000012.12:g.112482102A>G	ExAC,gnomAD
RCV000037606	p.Tyr375Cys	missense variant	-	NC_000012.12:g.112482105A>G	ClinVar
rs41299183	p.Tyr375Cys	missense variant	-	NC_000012.12:g.112482105A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1444455893	p.Tyr380Cys	missense variant	-	NC_000012.12:g.112482120A>G	TOPMed
rs1214510641	p.Val382Ile	missense variant	-	NC_000012.12:g.112482125G>A	gnomAD
RCV000733128	p.Val382Ile	missense variant	-	NC_000012.12:g.112482125G>A	ClinVar
rs1260386432	p.Met383Thr	missense variant	-	NC_000012.12:g.112482129T>C	gnomAD
rs748162361	p.Arg384Cys	missense variant	-	NC_000012.12:g.112482131C>T	ExAC,TOPMed
rs748162361	p.Arg384Cys	missense variant	-	NC_000012.12:g.112482131C>T	NCI-TCGA,NCI-TCGA Cosmic
rs769798916	p.Val385Ile	missense variant	-	NC_000012.12:g.112482134G>A	ExAC,gnomAD
rs749523268	p.Val388Ile	missense variant	-	NC_000012.12:g.112482143G>A	ExAC,TOPMed,gnomAD
rs749523268	p.Val388Ile	missense variant	-	NC_000012.12:g.112482143G>A	NCI-TCGA
RCV000412775	p.Val388Ile	missense variant	-	NC_000012.12:g.112482143G>A	ClinVar
RCV000209886	p.Ala392Thr	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112482155G>A	ClinVar
rs774356443	p.Ala392Thr	missense variant	-	NC_000012.12:g.112482155G>A	ExAC,gnomAD
rs1214118543	p.Ala393Thr	missense variant	-	NC_000012.12:g.112482158G>A	gnomAD
rs1415532476	p.His394Arg	missense variant	-	NC_000012.12:g.112482162A>G	TOPMed,gnomAD
RCV000520163	p.His394Arg	missense variant	-	NC_000012.12:g.112482162A>G	ClinVar
rs767503386	p.Thr397Met	missense variant	-	NC_000012.12:g.112482171C>T	ExAC,TOPMed,gnomAD
RCV000461011	p.Thr397Met	missense variant	Rasopathy	NC_000012.12:g.112482171C>T	ClinVar
rs767503386	p.Thr397Arg	missense variant	-	NC_000012.12:g.112482171C>G	ExAC,TOPMed,gnomAD
RCV000321441	p.Thr397Met	missense variant	-	NC_000012.12:g.112482171C>T	ClinVar
NCI-TCGA novel	p.Glu400Lys	missense variant	-	NC_000012.12:g.112482179G>A	NCI-TCGA
rs760221298	p.Val406Ala	missense variant	-	NC_000012.12:g.112482198T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly407TrpPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.112482197_112482198insT	NCI-TCGA
rs201247699	p.Gly409Ala	missense variant	-	NC_000012.12:g.112486476G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly409Trp	missense variant	-	NC_000012.12:g.112486475G>T	NCI-TCGA
rs121918467	p.Thr411Met	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112486482C>T	ExAC,TOPMed,gnomAD
rs121918467	p.Thr411Met	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112486482C>T	UniProt,dbSNP
VAR_027189	p.Thr411Met	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112486482C>T	UniProt
rs121918467	p.Thr411Met	missense variant	-	NC_000012.12:g.112486482C>T	NCI-TCGA,NCI-TCGA Cosmic
rs121918467	p.Thr411Lys	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112486482C>A	ExAC,TOPMed,gnomAD
rs761510407	p.Arg413Lys	missense variant	-	NC_000012.12:g.112486488G>A	ExAC,gnomAD
RCV000037608	p.Gly413Ala	missense variant	-	NC_000012.12:g.112486476G>C	ClinVar
RCV000626827	p.Gly413Ala	missense variant	-	NC_000012.12:g.112486476G>C	ClinVar
NCI-TCGA novel	p.Arg413Ile	missense variant	-	NC_000012.12:g.112486488G>T	NCI-TCGA
rs1193000800	p.Thr414Met	missense variant	-	NC_000012.12:g.112486491C>T	gnomAD
RCV000014269	p.Thr415Met	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112486482C>T	ClinVar
rs1306943402	p.His419Tyr	missense variant	-	NC_000012.12:g.112486505C>T	gnomAD
rs1420362815	p.Arg421Gln	missense variant	-	NC_000012.12:g.112486512G>A	TOPMed,gnomAD
rs1355732645	p.Arg421Trp	missense variant	-	NC_000012.12:g.112486511C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro424Ser	missense variant	-	NC_000012.12:g.112486520C>T	NCI-TCGA
RCV000587432	p.Arg425Gln	missense variant	-	NC_000012.12:g.112486512G>A	ClinVar
RCV000523921	p.Arg425Trp	missense variant	-	NC_000012.12:g.112486511C>T	ClinVar
rs727505389	p.His426Pro	missense variant	-	NC_000012.12:g.112486527A>C	-
COSM3456263	p.His426Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112486527A>T	NCI-TCGA Cosmic
rs397507536	p.Val428Met	missense variant	-	NC_000012.12:g.112486532G>A	TOPMed,gnomAD
rs397507536	p.Val428Met	missense variant	-	NC_000012.12:g.112486532G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1458141683	p.Val428Ala	missense variant	-	NC_000012.12:g.112486533T>C	gnomAD
rs756647576	p.Pro429Ser	missense variant	-	NC_000012.12:g.112486535C>T	ExAC,gnomAD
RCV000157022	p.His430Pro	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112486527A>C	ClinVar
rs1178602062	p.Ser430Arg	missense variant	-	NC_000012.12:g.112486540C>A	gnomAD
RCV000033528	p.Val432Met	missense variant	-	NC_000012.12:g.112486532G>A	ClinVar
NCI-TCGA novel	p.Pro432Ser	missense variant	-	NC_000012.12:g.112486544C>T	NCI-TCGA
rs1054802954	p.Val435Met	missense variant	-	NC_000012.12:g.112486553G>A	TOPMed,gnomAD
rs779236638	p.His443Tyr	missense variant	-	NC_000012.12:g.112486577C>T	ExAC,TOPMed,gnomAD
RCV000024259	p.Leu443Ter	frameshift	Metachondromatosis (METCDS)	NC_000012.12:g.112486565del	ClinVar
RCV000654964	p.His447Tyr	missense variant	Rasopathy	NC_000012.12:g.112486577C>T	ClinVar
RCV000306612	p.His447Tyr	missense variant	-	NC_000012.12:g.112486577C>T	ClinVar
rs746112827	p.Ile449Val	missense variant	-	NC_000012.12:g.112486595A>G	ExAC,gnomAD
rs1165173231	p.Ala452Ser	missense variant	-	NC_000012.12:g.112486604G>T	gnomAD
rs1165173231	p.Ala452Ser	missense variant	-	NC_000012.12:g.112486604G>T	NCI-TCGA
rs1464947249	p.Gly453Arg	missense variant	-	NC_000012.12:g.112486607G>C	gnomAD
rs397516796	p.Val456Leu	missense variant	-	NC_000012.12:g.112486616G>T	1000Genomes,ExAC,gnomAD
rs397516796	p.Val456Met	missense variant	-	NC_000012.12:g.112486616G>A	1000Genomes,ExAC,gnomAD
RCV000722780	p.Pro458Leu	missense variant	-	NC_000012.12:g.112486611C>T	ClinVar
rs727504393	p.His458Gln	missense variant	-	NC_000012.12:g.112486624C>A	-
RCV000037610	p.Val460Met	missense variant	-	NC_000012.12:g.112486616G>A	ClinVar
RCV000461820	p.Val460Met	missense variant	Rasopathy	NC_000012.12:g.112486616G>A	ClinVar
rs397509344	p.Ala461Gly	missense variant	-	NC_000012.12:g.112488445C>G	-
rs121918468	p.Ala461Ser	missense variant	-	NC_000012.12:g.112488444G>T	-
rs121918468	p.Ala461Thr	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488444G>A	UniProt,dbSNP
VAR_027190	p.Ala461Thr	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488444G>A	UniProt
rs121918468	p.Ala461Thr	missense variant	-	NC_000012.12:g.112488444G>A	-
RCV000154559	p.His462Gln	missense variant	-	NC_000012.12:g.112486624C>A	ClinVar
COSM935283	p.Ile463Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112488450A>C	NCI-TCGA Cosmic
rs121918469	p.Gly464Ala	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488454G>C	UniProt,dbSNP
VAR_027191	p.Gly464Ala	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488454G>C	UniProt
rs121918469	p.Gly464Ala	missense variant	-	NC_000012.12:g.112488454G>C	-
RCV000037611	p.Ala465Thr	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112488444G>A	ClinVar
RCV000055882	p.Ala465Thr	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488444G>A	ClinVar
RCV000614347	p.Ala465Gly	missense variant	-	NC_000012.12:g.112488445C>G	ClinVar
RCV000033529	p.Ala465Ser	missense variant	-	NC_000012.12:g.112488444G>T	ClinVar
RCV000529342	p.Ala465Thr	missense variant	Rasopathy	NC_000012.12:g.112488444G>A	ClinVar
RCV000033530	p.Ala465Thr	missense variant	-	NC_000012.12:g.112488444G>A	ClinVar
RCV000037612	p.Ala465Ser	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112488444G>T	ClinVar
RCV000587622	p.Ala465Thr	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112488444G>A	ClinVar
NCI-TCGA novel	p.Arg465Trp	missense variant	-	NC_000012.12:g.112488456C>T	NCI-TCGA
NCI-TCGA novel	p.Arg465Gln	missense variant	-	NC_000012.12:g.112488457G>A	NCI-TCGA
RCV000033531	p.Gly468Ala	missense variant	Rasopathy	NC_000012.12:g.112488454G>C	ClinVar
RCV000077850	p.Gly468Ala	missense variant	-	NC_000012.12:g.112488454G>C	ClinVar
RCV000824746	p.Gly468Ala	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112488454G>C	ClinVar
rs886039711	p.Thr468Glu	missense variant	-	NC_000012.12:g.112488465_112488466delinsGA	-
rs397507537	p.Thr468Pro	missense variant	-	NC_000012.12:g.112488465A>C	-
rs121918457	p.Thr468Met	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488466C>T	UniProt,dbSNP
VAR_015621	p.Thr468Met	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488466C>T	UniProt
rs121918457	p.Thr468Met	missense variant	-	NC_000012.12:g.112488466C>T	ExAC,gnomAD
RCV000055883	p.Gly468Ala	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112488454G>C	ClinVar
rs779978269	p.Ile470Val	missense variant	-	NC_000012.12:g.112488471A>G	ExAC,gnomAD
RCV000033532	p.Thr472Pro	missense variant	-	NC_000012.12:g.112488465A>C	ClinVar
RCV000254759	p.Thr472Glu	missense variant	-	NC_000012.12:g.112488465_112488466delinsGA	ClinVar
RCV000231162	p.Thr472Pro	missense variant	Rasopathy	NC_000012.12:g.112488465A>C	ClinVar
RCV000077851	p.Thr472Met	missense variant	-	NC_000012.12:g.112488466C>T	ClinVar
rs1276701553	p.Ile476Thr	missense variant	-	NC_000012.12:g.112488490T>C	gnomAD
rs1320374464	p.Ile478Val	missense variant	-	NC_000012.12:g.112488495A>G	gnomAD
rs1555270590	p.Ile479Thr	missense variant	-	NC_000012.12:g.112488499T>C	-
NCI-TCGA novel	p.Ile479Val	missense variant	-	NC_000012.12:g.112488498A>G	NCI-TCGA
rs754837922	p.Arg480Lys	missense variant	-	NC_000012.12:g.112488502G>A	ExAC,gnomAD
RCV000518952	p.Ile483Thr	missense variant	-	NC_000012.12:g.112488499T>C	ClinVar
rs730880994	p.Asp487Gly	missense variant	-	NC_000012.12:g.112489036A>G	-
rs781083623	p.Val490Ile	missense variant	-	NC_000012.12:g.112489044G>A	ExAC,TOPMed,gnomAD
rs397507539	p.Pro491Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489047C>T	UniProt,dbSNP
VAR_071706	p.Pro491Ser	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489047C>T	UniProt
rs397507539	p.Pro491Ser	missense variant	-	NC_000012.12:g.112489047C>T	ExAC,TOPMed,gnomAD
RCV000159055	p.Asp491Gly	missense variant	-	NC_000012.12:g.112489036A>G	ClinVar
rs397507540	p.Pro491His	missense variant	-	NC_000012.12:g.112489048C>A	-
rs397507539	p.Pro491Thr	missense variant	-	NC_000012.12:g.112489047C>A	ExAC,TOPMed,gnomAD
rs397507539	p.Pro491Ala	missense variant	-	NC_000012.12:g.112489047C>G	ExAC,TOPMed,gnomAD
rs397507540	p.Pro491Leu	missense variant	-	NC_000012.12:g.112489048C>T	-
RCV000033538	p.Pro495Leu	missense variant	Rasopathy	NC_000012.12:g.112489048C>T	ClinVar
RCV000033536	p.Pro495Ser	missense variant	Rasopathy	NC_000012.12:g.112489047C>T	ClinVar
RCV000159056	p.Pro495Ala	missense variant	-	NC_000012.12:g.112489047C>G	ClinVar
RCV000208219	p.Pro495Thr	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489047C>A	ClinVar
RCV000660240	p.Pro495Thr	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489047C>A	ClinVar
RCV000254685	p.Pro495Leu	missense variant	-	NC_000012.12:g.112489048C>T	ClinVar
RCV000156989	p.Pro495Leu	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489048C>T	ClinVar
RCV000033535	p.Pro495Thr	missense variant	-	NC_000012.12:g.112489047C>A	ClinVar
RCV000037617	p.Pro495His	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489048C>A	ClinVar
RCV000254684	p.Pro495Ser	missense variant	-	NC_000012.12:g.112489047C>T	ClinVar
rs756104635	p.Gln495Glu	missense variant	-	NC_000012.12:g.112489059C>G	ExAC,gnomAD
RCV000033537	p.Pro495His	missense variant	-	NC_000012.12:g.112489048C>A	ClinVar
RCV000157010	p.Pro495Ser	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489047C>T	ClinVar
RCV000694590	p.Pro495Thr	missense variant	Rasopathy	NC_000012.12:g.112489047C>A	ClinVar
rs397507541	p.Arg498Trp	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489068C>T	UniProt,dbSNP
VAR_027193	p.Arg498Trp	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489068C>T	UniProt
rs397507541	p.Arg498Trp	missense variant	-	NC_000012.12:g.112489068C>T	TOPMed,gnomAD
rs397507542	p.Arg498Leu	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489069G>T	UniProt,dbSNP
VAR_027192	p.Arg498Leu	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489069G>T	UniProt
rs397507542	p.Arg498Leu	missense variant	-	NC_000012.12:g.112489069G>T	-
rs1264992160	p.Ser499Cys	missense variant	-	NC_000012.12:g.112489072C>G	gnomAD
rs1173984843	p.Gln500Arg	missense variant	-	NC_000012.12:g.112489075A>G	TOPMed
rs397507543	p.Arg501Lys	missense variant	-	NC_000012.12:g.112489078G>A	-
rs397507543	p.Arg501Lys	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489078G>A	UniProt,dbSNP
VAR_015622	p.Arg501Lys	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489078G>A	UniProt
RCV000055886	p.Arg502Leu	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489069G>T	ClinVar
RCV000623675	p.Arg502Trp	missense variant	Inborn genetic diseases	NC_000012.12:g.112489068C>T	ClinVar
RCV000824748	p.Arg502Leu	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112489069G>T	ClinVar
RCV000494687	p.Arg502Leu	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489069G>T	ClinVar
RCV000722171	p.Arg502Trp	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489068C>T	ClinVar
RCV000212896	p.Arg502Leu	missense variant	-	NC_000012.12:g.112489069G>T	ClinVar
RCV000033539	p.Arg502Trp	missense variant	Rasopathy	NC_000012.12:g.112489068C>T	ClinVar
RCV000626828	p.Arg502Leu	missense variant	-	NC_000012.12:g.112489069G>T	ClinVar
RCV000254686	p.Arg502Trp	missense variant	-	NC_000012.12:g.112489068C>T	ClinVar
RCV000055885	p.Arg502Trp	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489068C>T	ClinVar
RCV000033540	p.Arg502Leu	missense variant	Rasopathy	NC_000012.12:g.112489069G>T	ClinVar
RCV000824747	p.Arg502Trp	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112489068C>T	ClinVar
rs121918458	p.Ser502Ala	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112489080T>G	-
rs397507544	p.Ser502Leu	missense variant	-	NC_000012.12:g.112489081C>T	-
rs121918458	p.Ser502Thr	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112489080T>A	-
rs121918458	p.Ser502Thr	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489080T>A	UniProt,dbSNP
VAR_015623	p.Ser502Thr	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489080T>A	UniProt
rs397507545	p.Gly503Arg	missense variant	-	NC_000012.12:g.112489083G>C	gnomAD
rs397507545	p.Gly503Arg	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489083G>C	UniProt,dbSNP
VAR_016003	p.Gly503Arg	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489083G>C	UniProt
RCV000781772	p.Ser503Thr	missense variant	-	NC_000012.12:g.112489071T>A	ClinVar
rs397507546	p.Gly503Ala	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112489084G>C	UniProt,dbSNP
VAR_016002	p.Gly503Ala	missense variant	Leukemia, juvenile myelomonocytic (JMML)	NC_000012.12:g.112489084G>C	UniProt
rs397507545	p.Gly503Arg	missense variant	-	NC_000012.12:g.112489083G>A	gnomAD
rs1379175668	p.Met504Ile	missense variant	-	NC_000012.12:g.112489088G>A	gnomAD
rs397507547	p.Met504Val	missense variant	-	NC_000012.12:g.112489086A>G	gnomAD
rs397507547	p.Met504Val	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489086A>G	UniProt,dbSNP
VAR_015624	p.Met504Val	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489086A>G	UniProt
NCI-TCGA novel	p.Met504Ile	missense variant	-	NC_000012.12:g.112489088G>T	NCI-TCGA
RCV000466382	p.Arg505Lys	missense variant	Rasopathy	NC_000012.12:g.112489078G>A	ClinVar
RCV000033541	p.Arg505Lys	missense variant	-	NC_000012.12:g.112489078G>A	ClinVar
RCV000037618	p.Arg505Lys	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489078G>A	ClinVar
RCV000781773	p.Ser506Leu	missense variant	Rasopathy	NC_000012.12:g.112489081C>T	ClinVar
RCV000212897	p.Ser506Thr	missense variant	-	NC_000012.12:g.112489080T>A	ClinVar
RCV000156995	p.Ser506Thr	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489080T>A	ClinVar
RCV000033543	p.Ser506Thr	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112489080T>A	ClinVar
rs397509345	p.Gln506Pro	missense variant	-	NC_000012.12:g.112489093_112489094delinsCC	-
rs397509345	p.Gln506Pro	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489093_112489094delinsCC	UniProt,dbSNP
VAR_027194	p.Gln506Pro	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489093_112489094delinsCC	UniProt
rs387907157	p.Gln506Ter	stop gained	Metachondromatosis (metcds)	NC_000012.12:g.112489092C>T	-
rs397507548	p.Gln506Pro	missense variant	-	NC_000012.12:g.112489093A>C	-
RCV000033542	p.Ser506Ala	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112489080T>G	ClinVar
RCV000212898	p.Ser506Ala	missense variant	-	NC_000012.12:g.112489080T>G	ClinVar
RCV000014260	p.Ser506Thr	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489080T>A	ClinVar
VAR_027195	p.Gln506Arg	Missense	Noonan syndrome 1 (NS1) [MIM:163950]	-	UniProt
RCV000824750	p.Gly507Arg	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489083G>C	ClinVar
RCV000157015	p.Gly507Arg	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489083G>A	ClinVar
RCV000440091	p.Gly507Val	missense variant	Adenocarcinoma of stomach	NC_000012.12:g.112489084G>T	ClinVar
RCV000210040	p.Gly507Arg	missense variant	-	NC_000012.12:g.112489083G>C	ClinVar
RCV000033548	p.Gly507Glu	missense variant	-	NC_000012.12:g.112489084G>A	ClinVar
RCV000033546	p.Gly507Arg	missense variant	Rasopathy	NC_000012.12:g.112489083G>A	ClinVar
RCV000515165	p.Gly507Arg	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112489083G>C	ClinVar
RCV000430281	p.Gly507Val	missense variant	Lung adenocarcinoma	NC_000012.12:g.112489084G>T	ClinVar
RCV000429259	p.Gly507Val	missense variant	Multiple myeloma (MM)	NC_000012.12:g.112489084G>T	ClinVar
RCV000618529	p.Gly507Arg	missense variant	-	NC_000012.12:g.112489083G>A	ClinVar
RCV000439943	p.Gly507Val	missense variant	Neoplasm of the large intestine	NC_000012.12:g.112489084G>T	ClinVar
RCV000156971	p.Gly507Arg	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112489083G>C	ClinVar
RCV000660241	p.Gly507Arg	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489083G>A	ClinVar
RCV000149849	p.Gly507Ala	missense variant	Rasopathy	NC_000012.12:g.112489084G>C	ClinVar
rs886039463	p.Thr507Lys	missense variant	-	NC_000012.12:g.112489096C>A	-
RCV000033545	p.Gly507Arg	missense variant	Rasopathy	NC_000012.12:g.112489083G>C	ClinVar
RCV000077852	p.Gly507Arg	missense variant	-	NC_000012.12:g.112489083G>A	ClinVar
RCV000824749	p.Gly507Arg	missense variant	Juvenile myelomonocytic leukemia (JMML)	NC_000012.12:g.112489083G>A	ClinVar
RCV000762886	p.Gly507Arg	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489083G>A	ClinVar
RCV000419381	p.Gly507Val	missense variant	Squamous cell lung carcinoma	NC_000012.12:g.112489084G>T	ClinVar
RCV000692146	p.Gly507Arg	missense variant	Rasopathy	NC_000012.12:g.112489082_112489083delinsCC	ClinVar
RCV000677652	p.Met508Val	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489086A>G	ClinVar
rs121918470	p.Gln510Pro	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112489105A>C	ExAC,TOPMed,gnomAD
RCV000024258	p.Gln510Ter	nonsense	Metachondromatosis (METCDS)	NC_000012.12:g.112489092C>T	ClinVar
RCV000055887	p.Gln510Pro	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489093A>C	ClinVar
rs121918470	p.Gln510Arg	missense variant	-	NC_000012.12:g.112489105A>G	ExAC,TOPMed,gnomAD
COSM1948766	p.Gln510His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112489106G>T	NCI-TCGA Cosmic
COSM1318059	p.Gln510Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112489105A>T	NCI-TCGA Cosmic
RCV000154371	p.Gln510Pro	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112489093A>C	ClinVar
RCV000033550	p.Gln510Pro	missense variant	Rasopathy	NC_000012.12:g.112489093A>C	ClinVar
rs121918470	p.Gln510Pro	missense variant	-	NC_000012.12:g.112489105A>C	ExAC,TOPMed,gnomAD
rs397507550	p.Gln510His	missense variant	-	NC_000012.12:g.112489106G>C	TOPMed,gnomAD
rs121918470	p.Gln510Arg	missense variant	Noonan syndrome 1 (ns1)	NC_000012.12:g.112489105A>G	ExAC,TOPMed,gnomAD
rs121918470	p.Gln510Pro	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489105A>C	UniProt,dbSNP
VAR_027196	p.Gln510Pro	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489105A>C	UniProt
rs397507549	p.Gln510Glu	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489104C>G	UniProt,dbSNP
VAR_076499	p.Gln510Glu	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489104C>G	UniProt
rs397507549	p.Gln510Glu	missense variant	-	NC_000012.12:g.112489104C>G	-
RCV000049230	p.Gln510Pro	missense variant	Rasopathy	NC_000012.12:g.112489093_112489094delinsCC	ClinVar
RCV000157683	p.Gln510Pro	missense variant	-	NC_000012.12:g.112489093A>C	ClinVar
RCV000255951	p.Thr511Lys	missense variant	-	NC_000012.12:g.112489096C>A	ClinVar
COSM1358901	p.Arg512Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112489111G>A	NCI-TCGA Cosmic
RCV000589512	p.Gln514Glu	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112489104C>G	ClinVar
RCV000679882	p.Gln514Glu	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489104C>G	ClinVar
RCV000210041	p.Gln514Glu	missense variant	-	NC_000012.12:g.112489104C>G	ClinVar
RCV000077854	p.Gln514His	missense variant	-	NC_000012.12:g.112489106G>C	ClinVar
RCV000619738	p.Gln514Glu	missense variant	-	NC_000012.12:g.112489104C>G	ClinVar
RCV000033554	p.Gln514Pro	missense variant	Rasopathy	NC_000012.12:g.112489105A>C	ClinVar
RCV000033553	p.Gln514Glu	missense variant	Rasopathy	NC_000012.12:g.112489104C>G	ClinVar
RCV000824752	p.Gln514Pro	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112489105A>C	ClinVar
RCV000586289	p.Gln514Pro	missense variant	Noonan syndrome 3 (NS3)	NC_000012.12:g.112489105A>C	ClinVar
RCV000210036	p.Gln514Pro	missense variant	-	NC_000012.12:g.112489105A>C	ClinVar
RCV000014273	p.Gln514Arg	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489105A>G	ClinVar
RCV000520822	p.Gln514Pro	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112489105A>C	ClinVar
RCV000055888	p.Gln514Glu	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489104C>G	ClinVar
RCV000824751	p.Gln514Glu	missense variant	Noonan syndrome with multiple lentigines (NSML)	NC_000012.12:g.112489104C>G	ClinVar
RCV000414743	p.Gln514Arg	missense variant	-	NC_000012.12:g.112489105A>G	ClinVar
RCV000014272	p.Gln514Pro	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489105A>C	ClinVar
rs773825880	p.Met516Val	missense variant	-	NC_000012.12:g.112489122A>G	ExAC
rs994514579	p.Met516Thr	missense variant	-	NC_000012.12:g.112489123T>C	gnomAD
rs1488010874	p.Val518Phe	missense variant	-	NC_000012.12:g.112489128G>T	TOPMed
rs1365861378	p.Ile522Val	missense variant	-	NC_000012.12:g.112489140A>G	gnomAD
rs1389060443	p.Glu523Gly	missense variant	-	NC_000012.12:g.112489144A>G	gnomAD
rs777116808	p.Gln526His	missense variant	-	NC_000012.12:g.112489154G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln526His	missense variant	-	NC_000012.12:g.112489154G>T	NCI-TCGA
rs770363146	p.Arg527His	missense variant	-	NC_000012.12:g.112489156G>A	ExAC,gnomAD
rs191525506	p.Arg527Cys	missense variant	-	NC_000012.12:g.112489155C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000681078	p.Glu527Asp	missense variant	-	NC_000012.12:g.112489145A>C	ClinVar
RCV000577961	p.Arg531Cys	missense variant	LEOPARD syndrome 1 (LPRD1)	NC_000012.12:g.112489155C>T	ClinVar
RCV000578039	p.Arg531Cys	missense variant	Metachondromatosis (METCDS)	NC_000012.12:g.112489155C>T	ClinVar
RCV000578115	p.Arg531Cys	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112489155C>T	ClinVar
rs587778634	p.Glu532Lys	missense variant	-	NC_000012.12:g.112489170G>A	ExAC,TOPMed,gnomAD
RCV000121910	p.Glu536Lys	missense variant	-	NC_000012.12:g.112489170G>A	ClinVar
rs1415569303	p.Arg537Lys	missense variant	-	NC_000012.12:g.112502154G>A	gnomAD
rs994138881	p.Gly539Trp	missense variant	-	NC_000012.12:g.112502159G>T	TOPMed
NCI-TCGA novel	p.Gly539Arg	missense variant	-	NC_000012.12:g.112502159G>C	NCI-TCGA
COSM4038885	p.Glu541Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112502167A>C	NCI-TCGA Cosmic
rs186919241	p.Glu541Lys	missense variant	-	NC_000012.12:g.112502165G>A	1000Genomes,ExAC
rs186919241	p.Glu541Lys	missense variant	-	NC_000012.12:g.112502165G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu541Gln	missense variant	-	NC_000012.12:g.112502165G>C	NCI-TCGA
NCI-TCGA novel	p.Glu541Val	missense variant	-	NC_000012.12:g.112502166A>T	NCI-TCGA
rs1057520397	p.Thr543Ile	missense variant	-	NC_000012.12:g.112502172C>T	-
NCI-TCGA novel	p.Asn544Thr	missense variant	-	NC_000012.12:g.112502175A>C	NCI-TCGA
COSM1318057	p.Ile545Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112502177A>C	NCI-TCGA Cosmic
RCV000424480	p.Thr547Ile	missense variant	-	NC_000012.12:g.112502172C>T	ClinVar
rs1057517907	p.Ser548Pro	missense variant	-	NC_000012.12:g.112502186T>C	TOPMed,gnomAD
rs759551230	p.Ser548Cys	missense variant	-	NC_000012.12:g.112502187C>G	ExAC,gnomAD
rs767712281	p.Ala550Val	missense variant	-	NC_000012.12:g.112502193C>T	ExAC,TOPMed,gnomAD
COSM6071395	p.Asp551Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112502195G>A	NCI-TCGA Cosmic
RCV000413414	p.Ser552Pro	missense variant	-	NC_000012.12:g.112502186T>C	ClinVar
rs148176616	p.Thr553Lys	missense variant	-	NC_000012.12:g.112502202C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148176616	p.Thr553Met	missense variant	-	NC_000012.12:g.112502202C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1555271397	p.Ser554Asn	missense variant	-	NC_000012.12:g.112502205G>A	-
RCV000271291	p.Ala554Val	missense variant	-	NC_000012.12:g.112502193C>T	ClinVar
COSM935285	p.Gly555Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112502208G>A	NCI-TCGA Cosmic
RCV000156990	p.Thr557Met	missense variant	Noonan syndrome (NS)	NC_000012.12:g.112502202C>T	ClinVar
rs763926088	p.Gln557Arg	missense variant	-	NC_000012.12:g.112502214A>G	ExAC,gnomAD
rs1024227490	p.Gln557Lys	missense variant	-	NC_000012.12:g.112502213C>A	gnomAD
rs753741561	p.Gln557His	missense variant	-	NC_000012.12:g.112502215G>C	ExAC,TOPMed,gnomAD
RCV000658375	p.Ser558Asn	missense variant	-	NC_000012.12:g.112502205G>A	ClinVar
rs1253971623	p.Pro559Arg	missense variant	-	NC_000012.12:g.112502220C>G	TOPMed
rs1060502526	p.Pro559Ser	missense variant	-	NC_000012.12:g.112502219C>T	-
rs397516797	p.Leu560Phe	missense variant	-	NC_000012.12:g.112502222C>T	ExAC,TOPMed,gnomAD
rs397516797	p.Leu560Phe	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112502222C>T	UniProt,dbSNP
VAR_027197	p.Leu560Phe	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112502222C>T	UniProt
rs141140214	p.Pro561Leu	missense variant	-	NC_000012.12:g.112502226C>T	ESP,ExAC,TOPMed,gnomAD
COSM3456266	p.Cys563Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112502232G>T	NCI-TCGA Cosmic
RCV000700110	p.Pro563Arg	missense variant	Rasopathy	NC_000012.12:g.112502220C>G	ClinVar
rs1238697234	p.Cys563Tyr	missense variant	-	NC_000012.12:g.112502232G>A	gnomAD
RCV000467826	p.Pro563Ser	missense variant	Rasopathy	NC_000012.12:g.112502219C>T	ClinVar
rs779810329	p.Thr564Ser	missense variant	-	NC_000012.12:g.112502234A>T	ExAC,TOPMed,gnomAD
RCV000159057	p.Leu564Phe	missense variant	Rasopathy	NC_000012.12:g.112502222C>T	ClinVar
RCV000515184	p.Pro565Leu	missense variant	Noonan syndrome 1 (NS1)	NC_000012.12:g.112502226C>T	ClinVar
RCV000690056	p.Pro565Leu	missense variant	Rasopathy	NC_000012.12:g.112502226C>T	ClinVar
rs1315318035	p.Pro565Gln	missense variant	-	NC_000012.12:g.112502238C>A	TOPMed
rs746712068	p.Thr566Ala	missense variant	-	NC_000012.12:g.112502240A>G	ExAC,TOPMed,gnomAD
rs746712068	p.Thr566Ser	missense variant	-	NC_000012.12:g.112502240A>T	ExAC,TOPMed,gnomAD
rs150730493	p.Thr566Met	missense variant	-	NC_000012.12:g.112502241C>T	ESP,ExAC,TOPMed,gnomAD
rs1420924484	p.Cys569Arg	missense variant	-	NC_000012.12:g.112502249T>C	gnomAD
RCV000033559	p.Thr570Met	missense variant	-	NC_000012.12:g.112502241C>T	ClinVar
rs1415602777	p.Met572Thr	missense variant	-	NC_000012.12:g.112504697T>C	TOPMed
rs397516799	p.Asp575Gly	missense variant	-	NC_000012.12:g.112504706A>G	-
rs781006724	p.Ser576Asn	missense variant	-	NC_000012.12:g.112504709G>A	ExAC
NCI-TCGA novel	p.Ser576Ile	missense variant	-	NC_000012.12:g.112504709G>T	NCI-TCGA
rs567223058	p.Ala577Thr	missense variant	-	NC_000012.12:g.112504711G>A	1000Genomes,ExAC,gnomAD
rs757593532	p.Arg578Ile	missense variant	-	NC_000012.12:g.112504715G>T	ExAC
NCI-TCGA novel	p.Arg578Ter	stop gained	-	NC_000012.12:g.112504714A>T	NCI-TCGA
RCV000037625	p.Asp579Gly	missense variant	-	NC_000012.12:g.112504706A>G	ClinVar
rs746410911	p.Val579Ile	missense variant	-	NC_000012.12:g.112504717G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val579Gly	missense variant	-	NC_000012.12:g.112504718T>G	NCI-TCGA
rs963465148	p.Val583Met	missense variant	-	NC_000012.12:g.112504729G>A	TOPMed
rs1283260430	p.Gln588Arg	missense variant	-	NC_000012.12:g.112504745A>G	TOPMed,gnomAD
COSM263160	p.Gln588His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.112504746G>T	NCI-TCGA Cosmic
rs768805690	p.Gln589Arg	missense variant	-	NC_000012.12:g.112504748A>G	ExAC,gnomAD
rs1205297900	p.Arg593Gly	missense variant	-	NC_000012.12:g.112504759A>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000744	Abetalipoproteinemia	disease	BEFREE
C0000768	Congenital Abnormality	group	BEFREE
C0001418	Adenocarcinoma	group	BEFREE;CTD_human
C0001430	Adenoma	group	BEFREE
C0003125	Anorexia Nervosa	disease	BEFREE
C0003492	Aortic coarctation	disease	BEFREE;HPO
C0003811	Cardiac Arrhythmia	phenotype	HPO
C0003864	Arthritis	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004096	Asthma	disease	BEFREE
C0004114	Astrocytoma	disease	BEFREE;CLINVAR;CTD_human
C0005745	Blepharoptosis	disease	HPO
C0005779	Blood Coagulation Disorders	group	BEFREE;HPO
C0005866	Bluetongue infection	disease	BEFREE
C0006118	Brain Neoplasms	group	CLINVAR
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006384	Bundle-Branch Block	phenotype	HPO
C0007102	Malignant tumor of colon	disease	BEFREE
C0007107	Malignant neoplasm of larynx	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE;CTD_human
C0007193	Cardiomyopathy, Dilated	group	MGD
C0007194	Hypertrophic Cardiomyopathy	disease	BEFREE;CLINVAR;GENOMICS_ENGLAND;HPO;MGD
C0007762	Cerebellar Neoplasms	group	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0007959	Charcot-Marie-Tooth Disease	disease	GENOMICS_ENGLAND
C0008029	Cherubism	disease	BEFREE
C0008073	Developmental Disabilities	group	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0008924	Cleft upper lip	disease	GWASCAT
C0009241	Cognition Disorders	group	BEFREE
C0009319	Colitis	disease	BEFREE
C0009324	Ulcerative Colitis	disease	BEFREE
C0009404	Colorectal Neoplasms	group	CLINVAR
C0009681	Anomalous pulmonary artery	group	HPO
C0010417	Cryptorchidism	disease	BEFREE;HPO
C0010828	Cytopenia	phenotype	GENOMICS_ENGLAND
C0011053	Deafness	phenotype	LHGDN
C0011195	Dejerine-Sottas Disease (disorder)	disease	BEFREE
C0011311	Dengue Fever	disease	BEFREE
C0013080	Down Syndrome	disease	BEFREE
C0013274	Patent ductus arteriosus	disease	BEFREE;CLINVAR;HPO
C0013336	Dwarfism	disease	BEFREE
C0013362	Dysarthria	disease	HPO
C0013370	Amebic colitis	disease	BEFREE
C0014057	Japanese Encephalitis	disease	BEFREE
C0014061	Tick-Borne Encephalitis	disease	BEFREE
C0014084	Enchondromatosis	disease	BEFREE;CTD_human;HPO
C0014116	Endocardial Cushion Defects	group	HPO
C0015230	Exanthema	phenotype	BEFREE
C0015300	Exophthalmos	disease	HPO
C0015302	External exotoses	disease	BEFREE
C0015306	Hereditary Multiple Exostoses	disease	CTD_human
C0015526	Factor XII Deficiency	disease	HPO
C0015927	Fetal Death	phenotype	LHGDN
C0015934	Fetal Growth Retardation	phenotype	HPO
C0016689	Freckles	phenotype	HPO
C0017154	Gastritis, Atrophic	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE;LHGDN
C0017638	Glioma	disease	BEFREE
C0018784	Sensorineural Hearing Loss (disorder)	disease	BEFREE;HPO
C0018798	Congenital Heart Defects	group	BEFREE
C0018799	Heart Diseases	group	BEFREE;LHGDN
C0018817	Atrial Septal Defects	group	BEFREE;HPO;LHGDN
C0018818	Ventricular Septal Defects	group	BEFREE;HPO
C0019080	Hemorrhage	phenotype	LHGDN
C0019087	Hemorrhagic Disorders	group	HPO
C0019196	Hepatitis C	disease	BEFREE
C0019209	Hepatomegaly	phenotype	HPO
C0019693	HIV Infections	group	BEFREE
C0019829	Hodgkin Disease	disease	BEFREE
C0020305	Hydrops Fetalis	disease	GENOMICS_ENGLAND
C0020534	Orbital separation excessive	phenotype	HPO
C0020676	Hypothyroidism	disease	GWASDB
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0021364	Male infertility	disease	HPO
C0021390	Inflammatory Bowel Diseases	group	BEFREE
C0021400	Influenza	disease	BEFREE
C0022408	Arthropathy	group	HPO
C0022595	Keratosis Follicularis	disease	BEFREE
C0022821	Kyphosis deformity of spine	phenotype	BEFREE
C0023264	Leigh Disease	disease	BEFREE
C0023418	leukemia	disease	BEFREE;CTD_human;LHGDN
C0023434	Chronic Lymphocytic Leukemia	disease	CLINVAR
C0023448	Lymphoid leukemia	disease	BEFREE
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE
C0023465	Acute monocytic leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE;CGI;CLINVAR;CTD_human;LHGDN;UNIPROT
C0023470	Myeloid Leukemia	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023480	Leukemia, Myelomonocytic, Chronic	disease	BEFREE;LHGDN;UNIPROT
C0023487	Acute Promyelocytic Leukemia	disease	BEFREE
C0023895	Liver diseases	group	BEFREE
C0024121	Lung Neoplasms	group	BEFREE
C0024236	Lymphedema	disease	HPO
C0024299	Lymphoma	group	BEFREE
C0024305	Lymphoma, Non-Hodgkin	disease	BEFREE
C0024454	Maffucci Syndrome	disease	BEFREE;CTD_human
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0024636	Malocclusion	phenotype	HPO
C0024790	Paroxysmal nocturnal hemoglobinuria	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025517	Metabolic Diseases	group	MGD
C0025990	Micrognathism	disease	HPO
C0026106	Mild Mental Retardation	disease	BEFREE;CLINVAR;HPO
C0026267	Mitral Valve Prolapse Syndrome	disease	HPO
C0026499	Monosomy	group	BEFREE
C0026654	Moyamoya Disease	disease	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE;CLINVAR
C0026827	Muscle hypotonia	phenotype	HPO
C0026998	Acute Myeloid Leukemia, M1	disease	CTD_human
C0027019	Myelomonocytic leukemia	disease	CGI
C0027022	Myeloproliferative disease	group	BEFREE
C0027092	Myopia	disease	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027662	Multiple Endocrine Neoplasia	disease	LHGDN
C0027819	Neuroblastoma	group	BEFREE;CLINVAR;CTD_human
C0027831	Neurofibromatosis 1	disease	BEFREE;GENOMICS_ENGLAND
C0027962	Melanocytic nevus	disease	HPO
C0028326	Noonan Syndrome	disease	BEFREE;CLINGEN;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET;UNIPROT
C0028754	Obesity	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029423	Cartilaginous exostosis	disease	CTD_human
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0029445	Bone necrosis	phenotype	HPO
C0029456	Osteoporosis	disease	BEFREE
C0030297	Pancreatic Neoplasm	disease	BEFREE
C0032181	Platelet Count measurement	phenotype	GWASCAT
C0034012	Delayed Puberty	phenotype	HPO
C0034089	Pulmonary Valve Stenosis	disease	BEFREE;LHGDN
C0035235	Respiratory Syncytial Virus Infections	group	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE
C0036439	Scoliosis, unspecified	phenotype	BEFREE
C0036651	Senile lentigo	disease	HPO
C0037221	Situs Inversus	disease	BEFREE
C0037932	Curvature of spine	phenotype	CLINVAR;HPO
C0038354	Stomach Diseases	group	BEFREE
C0038379	Strabismus	disease	HPO
C0038395	Streptococcal Infections	group	BEFREE
C0039103	Synovitis	disease	HPO
C0039685	Tetralogy of Fallot	disease	BEFREE;GWASDB
C0040961	Tricuspid Valve Insufficiency	disease	CLINVAR
C0041409	Turner Syndrome, Male	disease	BEFREE;CLINVAR;CTD_human;MGD;UNIPROT
C0042769	Virus Diseases	group	BEFREE
C0043395	Yellow Fever	disease	BEFREE
C0079731	B-Cell Lymphomas	group	LHGDN
C0079773	Lymphoma, T-Cell, Cutaneous	disease	BEFREE;LHGDN
C0080174	Spina Bifida Occulta	disease	HPO
C0085273	Erythema Infectiosum	disease	BEFREE
C0085660	Aseptic necrosis	phenotype	HPO
C0085669	Acute leukemia	disease	BEFREE
C0149782	Squamous cell carcinoma of lung	disease	CLINVAR
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0151311	Cranial nerve palsies	phenotype	HPO
C0151517	Complete atrioventricular block	disease	HPO
C0151786	Muscle Weakness	phenotype	HPO
C0151825	Bone pain	phenotype	HPO
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE;CLINVAR
C0152021	Congenital heart disease	group	BEFREE
C0152438	Sprengel deformity	disease	HPO
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0156147	Crohn's disease of large bowel	disease	BEFREE
C0158465	Acquired cubitus valgus	phenotype	HPO
C0158731	Congenital pectus carinatum	disease	HPO
C0158995	Congenital anemia	disease	GENOMICS_ENGLAND
C0162678	Neurofibromatoses	group	BEFREE
C0162770	Right Ventricular Hypertrophy	disease	CLINVAR
C0175704	LEOPARD Syndrome	disease	BEFREE;CLINGEN;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET;UNIPROT
C0178874	Tumor Progression	phenotype	BEFREE
C0200665	Platelet mean volume determination (procedure)	phenotype	GWASDB
C0205641	Adenocarcinoma, Basal Cell	disease	CTD_human
C0205642	Adenocarcinoma, Oxyphilic	disease	CTD_human
C0205643	Carcinoma, Cribriform	disease	CTD_human
C0205644	Carcinoma, Granular Cell	disease	CTD_human
C0205645	Adenocarcinoma, Tubular	disease	CTD_human
C0205768	Subependymal Giant Cell Astrocytoma	disease	CTD_human
C0206180	Ki-1+ Anaplastic Large Cell Lymphoma	disease	BEFREE
C0206620	Lymphangioma, Cystic	disease	BEFREE;HPO
C0206624	Hepatoblastoma	disease	BEFREE
C0206669	Hepatocellular Adenoma	disease	MGD
C0206729	Neurofibrosarcoma	disease	HPO
C0220615	Adult Acute Myeloblastic Leukemia	disease	BEFREE
C0220620	Gastrointestinal Carcinoid Tumor	disease	BEFREE
C0220621	Childhood Acute Myeloid Leukemia	disease	BEFREE
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0221217	Neck webbing	disease	HPO
C0221263	Cafe-au-Lait Spots	phenotype	CLINVAR;HPO;LHGDN
C0221357	Brachydactyly	disease	HPO
C0231246	Failure to gain weight	phenotype	CLINVAR
C0235813	Neonatal leukaemia	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238397	Pulmonary artery stenosis	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0239676	High forehead	phenotype	HPO
C0239894	HEART DISPLACEMENT	disease	BEFREE
C0240083	Abnormal joint morphology	phenotype	HPO
C0240278	Lymphatic obstruction	phenotype	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0240953	Winged scapula	phenotype	HPO
C0241074	Hyperextensible skin	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0242596	Neoplasm, Residual	phenotype	BEFREE
C0263630	Hypertrophic disorder of skin, unspecified	group	BEFREE
C0265218	Neu-Laxova syndrome	disease	BEFREE
C0265261	Multiple pterygium syndrome	disease	MGD;UNIPROT
C0265509	Congenital anomaly of skeletal bone	group	BEFREE
C0265610	Congenital clinodactyly	disease	HPO
C0265962	Ichthyosis linearis circumflexa	disease	BEFREE
C0265974	Birthmark	phenotype	HPO
C0266294	Unilateral agenesis of kidney	disease	HPO
C0266368	Congenital absence of ovary	disease	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0266617	Congenital anomaly of face	group	BEFREE
C0271623	Hypogonadotropic hypogonadism	disease	HPO
C0272278	Congenital thrombocytopenia	disease	BEFREE
C0275524	Coinfection	phenotype	BEFREE
C0276275	Disease due to Parvoviridae	disease	BEFREE
C0277959	Coarse hair	phenotype	HPO
C0278694	Disseminated neuroblastoma	disease	BEFREE
C0278701	Gastric Adenocarcinoma	disease	CLINVAR
C0278996	Malignant Head and Neck Neoplasm	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0280321	Squamous cell carcinoma of the hypopharynx	disease	BEFREE
C0280783	Juvenile Pilocytic Astrocytoma	disease	CTD_human
C0280785	Diffuse Astrocytoma	disease	CTD_human
C0302501	Mandibular hyperplasia	phenotype	HPO
C0302592	Cervix carcinoma	disease	BEFREE
C0333186	Restenosis	phenotype	BEFREE
C0333641	Atrophic	phenotype	LHGDN
C0334579	Anaplastic astrocytoma	disease	CTD_human
C0334580	Protoplasmic astrocytoma	disease	CTD_human
C0334581	Gemistocytic astrocytoma	disease	CTD_human
C0334582	Fibrillary Astrocytoma	disease	CTD_human
C0334583	Pilocytic Astrocytoma	disease	BEFREE;CTD_human
C0338070	Childhood Cerebral Astrocytoma	disease	CTD_human
C0338656	Impaired cognition	disease	BEFREE
C0340375	Subaortic stenosis	disease	HPO
C0341439	Chronic liver disease	group	BEFREE
C0344724	Ostium secundum atrial septal defect	disease	BEFREE;CLINVAR
C0344772	Cleft leaflet of mitral valve	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0346429	Multiple malignancy	phenotype	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349588	Short stature	phenotype	CLINVAR;HPO
C0349639	Juvenile Myelomonocytic Leukemia	disease	BEFREE;CLINVAR;CTD_human;HPO;LHGDN;MGD;ORPHANET;UNIPROT
C0369183	Erythrocyte Mean Corpuscular Hemoglobin Test	phenotype	GWASDB
C0375023	Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site	disease	BEFREE
C0376544	Hematopoietic Neoplasms	group	BEFREE
C0376545	Hematologic Neoplasms	group	BEFREE;GENOMICS_ENGLAND
C0398639	Amegakaryocytic thrombocytopenia	disease	HPO
C0399526	Class III malocclusion	disease	HPO
C0410422	Chronic multifocal osteomyelitis	disease	BEFREE
C0410530	Metachondromatosis	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0424295	Hyperactive behavior	phenotype	BEFREE
C0424503	Dysmorphic facies	phenotype	CLINVAR
C0426816	Absence of rib	disease	HPO
C0431478	Posteriorly rotated ear	disease	HPO
C0432333	Abnormal dermatoglyphic pattern	disease	HPO
C0457179	Desmoplastic infantile astrocytoma	disease	BEFREE
C0474535	Mean corpuscular hemoglobin concentration determination	phenotype	GWASDB
C0476147	Chondrogenic Neoplasm	disease	BEFREE
C0520474	Aseptic Necrosis of Bone	phenotype	HPO
C0520927	Decreased fertility	phenotype	HPO
C0521525	Short neck	phenotype	HPO
C0522055	Electrocardiogram abnormal	phenotype	HPO
C0524587	Mean Corpuscular Volume (result)	phenotype	GWASDB
C0541764	Delayed bone age	phenotype	HPO
C0547065	Mixed oligoastrocytoma	disease	CTD_human
C0553580	Ewings sarcoma	disease	BEFREE
C0575158	Kyphoscoliosis deformity of spine	phenotype	HPO
C0587248	Costello syndrome (disorder)	disease	BEFREE;CTD_human
C0595989	Carcinoma of larynx	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0598894	Monocytic leukemia	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0684249	Carcinoma of lung	disease	BEFREE
C0685840	Congenital hypoplasia of ovary	disease	HPO
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0741916	Cardiac defects	group	BEFREE
C0750935	Cerebral Astrocytoma	disease	CTD_human
C0750936	Intracranial Astrocytoma	disease	CTD_human
C0751690	Malignant Peripheral Nerve Sheath Tumor	disease	HPO
C0795693	Skeletal malformation	phenotype	BEFREE
C0796195	Waisman syndrome	disease	BEFREE
C0848558	Hypospadias	group	HPO
C0850666	Infection caused by Helicobacter pylori	disease	BEFREE
C0855329	Electrocardiographic changes	phenotype	HPO
C0855740	Abnormal platelet function	phenotype	HPO
C0877326	Bone infarction	phenotype	HPO
C0878544	Cardiomyopathies	group	BEFREE
C0949173	Delayed menarche	disease	HPO
C0949658	Cardiomyopathy, Hypertrophic, Familial	disease	MGD
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1096184	West Nile viral infection	disease	BEFREE
C1134719	Invasive Ductal Breast Carcinoma	disease	BEFREE
C1176475	Ductal Carcinoma	disease	LHGDN
C1261287	Stenosis	phenotype	LHGDN
C1261502	Finding of Mean Corpuscular Hemoglobin	phenotype	GWASDB
C1264606	Persistent infection	phenotype	BEFREE
C1275081	Cardio-facio-cutaneous syndrome	disease	BEFREE;CTD_human
C1292769	Precursor B-cell lymphoblastic leukemia	disease	BEFREE
C1292778	Chronic myeloproliferative disorder	disease	BEFREE
C1292780	Therapy-related myelodysplastic syndrome	disease	BEFREE
C1301359	Precursor T cell lymphoblastic leukemia/lymphoblastic lymphoma	disease	BEFREE
C1305420	Prominent ear	phenotype	HPO
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1314694	Astrocytoma, low grade	disease	BEFREE
C1318544	M5b Acute differentiated monocytic leukemia	disease	BEFREE
C1321546	Anaplastic large B-cell lymphoma	disease	BEFREE
C1328931	Multiple lentigines	disease	BEFREE;HPO
C1332977	Childhood Leukemia	disease	BEFREE
C1336735	Treatment related acute myeloid leukaemia	disease	BEFREE
C1386048	Intrauterine retardation	phenotype	HPO
C1389016	ATRIOVENTRICULAR CANAL DEFECT	phenotype	HPO
C1442903	Exostoses	phenotype	BEFREE;HPO
C1449563	Cardiomyopathy, Familial Idiopathic	disease	BEFREE
C1458140	Bleeding tendency	phenotype	HPO
C1458155	Mammary Neoplasms	group	BEFREE
C1512409	Hepatocarcinogenesis	disease	BEFREE
C1519086	Pilomyxoid astrocytoma	disease	BEFREE
C1519680	Tumor Immunity	phenotype	BEFREE
C1527404	Female Pseudo-Turner Syndrome	disease	CTD_human
C1535926	Neurodevelopmental Disorders	group	CTD_human
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1691215	Penile hypospadias	disease	HPO
C1704230	Grade I Astrocytoma	disease	CTD_human
C1704356	Enchondroma	disease	BEFREE
C1737329	Dysmorphism	disease	BEFREE
C1744601	Abnormal heart beat	phenotype	HPO
C1827524	Wide spaced nipples	phenotype	HPO
C1832603	ECG abnormality	phenotype	HPO
C1834120	NOONAN-LIKE/MULTIPLE GIANT CELL LESION SYNDROME (disorder)	disease	BEFREE
C1834124	Shield chest	phenotype	HPO
C1835229	Onset of lymphedema around puberty	phenotype	HPO
C1835452	Hypoplastic ovary	phenotype	HPO
C1835884	Triangular face	phenotype	HPO
C1836189	Radial deviation of finger	phenotype	HPO
C1836940	Thickened nuchal skin fold	phenotype	HPO
C1837404	High, narrow palate	phenotype	HPO
C1837732	Thickened helices	phenotype	HPO
C1837760	Prominent eyes	phenotype	HPO
C1839248	Broad chest	phenotype	HPO
C1839739	Thick lower lip vermilion	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1842820	Cardiac conduction abnormality	phenotype	HPO
C1842876	Depressed nasal ridge	phenotype	HPO
C1846821	Abnormality of coagulation	group	HPO
C1848296	DOSAGE-SENSITIVE SEX REVERSAL	disease	BEFREE
C1848490	Protruding eyes	phenotype	HPO
C1849176	Single kidney	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1849955	Limited elbow movement	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1855285	Protruding ear	phenotype	HPO
C1855340	Bowing of the long bones	phenotype	HPO
C1855728	Low posterior hairline	phenotype	HPO
C1857126	Parietal bossing	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1859778	Postnatal growth retardation	phenotype	HPO
C1860991	NOONAN SYNDROME 3	disease	CLINVAR
C1861235	Forebrain Defects	group	BEFREE
C1862425	Prominent globes	phenotype	HPO
C1864795	Superior pectus carinatum	phenotype	HPO
C1864796	Pectus excavatum of inferior sternum	phenotype	HPO
C1864997	Majeed syndrome	disease	BEFREE
C1865285	Megalencephaly cutis marmorata telangiectatica congenita	disease	BEFREE
C1866206	Dysplastic pulmonary valve	phenotype	CLINVAR
C1867873	Failure to thrive in infancy	phenotype	HPO
C1879321	Acute Myeloid Leukemia (AML-M2)	disease	CTD_human
C1956257	Pulmonary Stenosis	disease	BEFREE;HPO
C1956346	Coronary Artery Disease	disease	BEFREE
C1959635	Parvovirus B19 (disease)	disease	BEFREE
C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	disease	BEFREE
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	BEFREE;LHGDN
C2051831	Pectus excavatum	phenotype	HPO
C2053437	Full lower lip	phenotype	HPO
C2062441	Influenza A	disease	BEFREE
C2076596	Influenza A/H5N1	disease	BEFREE
C2227134	mandibular excess (physical finding)	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2364082	Sense of smell impaired	phenotype	HPO
C2673410	Small midface	phenotype	HPO
C2674608	Feeding difficulties in infancy	phenotype	HPO
C2697636	Hyperdiploid B Acute Lymphoblastic Leukemia	disease	BEFREE
C2931384	Moyamoya disease 1	disease	BEFREE
C2931482	Neurofibromatosis-Noonan syndrome	disease	BEFREE
C2939461	Myeloid neoplasm	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	HPO
C3150803	NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA	disease	CLINVAR
C3161106	Pulmonary interstitial glycogenosis	disease	BEFREE
C3164374	Abnormality of pulmonary valve	phenotype	HPO
C3203102	Idiopathic pulmonary arterial hypertension	disease	BEFREE
C3264382	Swine influenza virus (viruses that normally cause infections in pigs)	disease	BEFREE
C3273019	Early Hepatocellular Carcinoma	disease	BEFREE
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE;CGI;LHGDN
C3489396	Hypogonadism, Isolated Hypogonadotropic	disease	HPO
C3539878	Triple Negative Breast Neoplasms	disease	BEFREE
C3548532	response to alcohol	phenotype	GWASCAT
C3553764	Joint hyperflexibility	phenotype	HPO
C3714514	Infection	group	LHGDN
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3826066	Leukemia in children	disease	BEFREE
C4020962	Enlarged thorax	phenotype	HPO
C4021533	Severe sensorineural hearing impairment	disease	HPO
C4021611	Abnormality of epiphysis morphology	phenotype	HPO
C4021790	Abnormality of the skeletal system	phenotype	BEFREE
C4023397	Abnormal hair quantity	phenotype	HPO
C4023909	Aplasia/Hypoplasia of the abdominal wall musculature	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024692	Reduced factor XIII activity	phenotype	HPO
C4025162	Multiple digital exostoses	disease	HPO
C4025749	Abnormality of the spleen	phenotype	HPO
C4025790	Specific learning disability	disease	CLINVAR
C4025814	Abnormality of the metaphysis	phenotype	HPO
C4048328	cervical cancer	disease	BEFREE
C4049796	Abnormality of cardiovascular system morphology	disease	CLINVAR
C4072834	Rough hair texture	phenotype	HPO
C4072849	Scapular weakness	phenotype	HPO
C4086165	Childhood Neuroblastoma	disease	BEFREE
C4280269	Noncancerous mole	phenotype	HPO
C4280304	Curvature of digit	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280613	Angle class 3 malocclusion	phenotype	HPO
C4280614	Angle class 2 malocclusion	disease	HPO
C4280644	Increased size of the mandible	phenotype	HPO
C4280645	Hypertrophy of lower jaw	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0001784	phosphotyrosine residue binding	IPI
GO:0001784	phosphotyrosine residue binding	IMP
GO:0004721	phosphoprotein phosphatase activity	IDA
GO:0004725	protein tyrosine phosphatase activity	IMP
GO:0004725	protein tyrosine phosphatase activity	IDA
GO:0004725	protein tyrosine phosphatase activity	EXP
GO:0004725	protein tyrosine phosphatase activity	TAS
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	IMP
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	IDA
GO:0004726	non-membrane spanning protein tyrosine phosphatase activity	TAS
GO:0005070	SH3/SH2 adaptor activity	IPI
GO:0005158	insulin receptor binding	IPI
GO:0005515	protein binding	IPI
GO:0019901	protein kinase binding	ISS
GO:0019904	protein domain specific binding	IEA
GO:0030971	receptor tyrosine kinase binding	IEA
GO:0031748	D1 dopamine receptor binding	IEA
GO:0043274	phospholipase binding	IEA
GO:0043560	insulin receptor substrate binding	IEA
GO:0045296	cadherin binding	IPI
GO:0050839	cell adhesion molecule binding	IPI
GO:0051428	peptide hormone receptor binding	IEA
GO:1990782	protein tyrosine kinase binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000077	DNA damage checkpoint	IEA
GO:0000187	activation of MAPK activity	IEA
GO:0006641	triglyceride metabolic process	IEA
GO:0007173	epidermal growth factor receptor signaling pathway	TAS
GO:0007229	integrin-mediated signaling pathway	IEA
GO:0007411	axon guidance	TAS
GO:0007420	brain development	IMP
GO:0007507	heart development	IMP
GO:0008543	fibroblast growth factor receptor signaling pathway	IMP
GO:0008543	fibroblast growth factor receptor signaling pathway	TAS
GO:0009755	hormone-mediated signaling pathway	IEA
GO:0019221	cytokine-mediated signaling pathway	TAS
GO:0021697	cerebellar cortex formation	IEA
GO:0030168	platelet activation	TAS
GO:0030220	platelet formation	IEA
GO:0031295	T cell costimulation	TAS
GO:0032528	microvillus organization	IEA
GO:0032728	positive regulation of interferon-beta production	ISS
GO:0032755	positive regulation of interleukin-6 production	ISS
GO:0032760	positive regulation of tumor necrosis factor production	ISS
GO:0033277	abortive mitotic cell cycle	IEA
GO:0033628	regulation of cell adhesion mediated by integrin	IMP
GO:0033629	negative regulation of cell adhesion mediated by integrin	IEA
GO:0035264	multicellular organism growth	IEA
GO:0035265	organ growth	IEA
GO:0035335	peptidyl-tyrosine dephosphorylation	IMP
GO:0035335	peptidyl-tyrosine dephosphorylation	IDA
GO:0035855	megakaryocyte development	IEA
GO:0036302	atrioventricular canal development	IMP
GO:0038127	ERBB signaling pathway	IDA
GO:0042445	hormone metabolic process	IEA
GO:0042593	glucose homeostasis	IEA
GO:0043254	regulation of protein-containing complex assembly	IDA
GO:0045931	positive regulation of mitotic cell cycle	IEA
GO:0046326	positive regulation of glucose import	IDA
GO:0046628	positive regulation of insulin receptor signaling pathway	IDA
GO:0046676	negative regulation of insulin secretion	IEA
GO:0046825	regulation of protein export from nucleus	IEA
GO:0046887	positive regulation of hormone secretion	IEA
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA
GO:0048011	neurotrophin TRK receptor signaling pathway	IEA
GO:0048013	ephrin receptor signaling pathway	IDA
GO:0048609	multicellular organismal reproductive process	IEA
GO:0048806	genitalia development	IMP
GO:0048839	inner ear development	IMP
GO:0048873	homeostasis of number of cells within a tissue	IEA
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IMP
GO:0050900	leukocyte migration	TAS
GO:0051463	negative regulation of cortisol secretion	IEA
GO:0051897	positive regulation of protein kinase B signaling	TAS
GO:0060020	Bergmann glial cell differentiation	IEA
GO:0060125	negative regulation of growth hormone secretion	IEA
GO:0060325	face morphogenesis	IMP
GO:0060338	regulation of type I interferon-mediated signaling pathway	TAS
GO:0061582	intestinal epithelial cell migration	IEA
GO:0070102	interleukin-6-mediated signaling pathway	TAS
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP
GO:0071260	cellular response to mechanical stimulus	IEA
GO:0071345	cellular response to cytokine stimulus	TAS
GO:0071364	cellular response to epidermal growth factor stimulus	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	TAS
GO:0005737	cytoplasm	IDA
GO:0005739	mitochondrion	IEA
GO:0005829	cytosol	TAS
GO:0032991	protein-containing complex	IMP

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1059683	Interleukin-6 signaling	TAS
R-HSA-109582	Hemostasis	TAS
R-HSA-109704	PI3K Cascade	TAS
R-HSA-110056	MAPK3 (ERK1) activation	TAS
R-HSA-112399	IRS-mediated signalling	TAS
R-HSA-112409	RAF-independent MAPK1/3 activation	TAS
R-HSA-112411	MAPK1 (ERK2) activation	TAS
R-HSA-114604	GPVI-mediated activation cascade	TAS
R-HSA-1170546	Prolactin receptor signaling	IEA
R-HSA-1257604	PIP3 activates AKT signaling	TAS
R-HSA-1266738	Developmental Biology	TAS
R-HSA-1266738	Developmental Biology	IEA
R-HSA-1280215	Cytokine Signaling in Immune system	TAS
R-HSA-1280215	Cytokine Signaling in Immune system	IEA
R-HSA-1280218	Adaptive Immune System	TAS
R-HSA-1295596	Spry regulation of FGF signaling	TAS
R-HSA-1433557	Signaling by SCF-KIT	TAS
R-HSA-1500931	Cell-Cell communication	IEA
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-1643685	Disease	TAS
R-HSA-166016	Toll Like Receptor 4 (TLR4) Cascade	TAS
R-HSA-166166	MyD88-independent TLR4 cascade	TAS
R-HSA-166520	Signaling by NTRKs	IEA
R-HSA-168249	Innate Immune System	TAS
R-HSA-168256	Immune System	TAS
R-HSA-168256	Immune System	IEA
R-HSA-168898	Toll-like Receptor Cascades	TAS
R-HSA-177929	Signaling by EGFR	TAS
R-HSA-180292	GAB1 signalosome	TAS
R-HSA-186763	Downstream signal transduction	TAS
R-HSA-186797	Signaling by PDGF	TAS
R-HSA-190236	Signaling by FGFR	TAS
R-HSA-199418	Negative regulation of the PI3K/AKT network	TAS
R-HSA-202733	Cell surface interactions at the vascular wall	TAS
R-HSA-210990	PECAM1 interactions	TAS
R-HSA-210993	Tie2 Signaling	TAS
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-2219528	PI3K/AKT Signaling in Cancer	TAS
R-HSA-2219530	Constitutive Signaling by Aberrant PI3K in Cancer	TAS
R-HSA-2404192	Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	TAS
R-HSA-2428924	IGF1R signaling cascade	TAS
R-HSA-2428928	IRS-related events triggered by IGF1R	TAS
R-HSA-2586552	Signaling by Leptin	IEA
R-HSA-373752	Netrin-1 signaling	IEA
R-HSA-388841	Costimulation by the CD28 family	TAS
R-HSA-389513	CTLA4 inhibitory signaling	TAS
R-HSA-389948	PD-1 signaling	TAS
R-HSA-391160	Signal regulatory protein family interactions	IEA
R-HSA-418346	Platelet homeostasis	TAS
R-HSA-418886	Netrin mediated repulsion signals	IEA
R-HSA-422475	Axon guidance	TAS
R-HSA-422475	Axon guidance	IEA
R-HSA-432142	Platelet sensitization by LDL	TAS
R-HSA-446652	Interleukin-1 family signaling	TAS
R-HSA-449147	Signaling by Interleukins	TAS
R-HSA-449147	Signaling by Interleukins	IEA
R-HSA-512988	Interleukin-3, Interleukin-5 and GM-CSF signaling	TAS
R-HSA-512988	Interleukin-3, Interleukin-5 and GM-CSF signaling	IEA
R-HSA-5654687	Downstream signaling of activated FGFR1	TAS
R-HSA-5654689	PI-3K cascade:FGFR1	TAS
R-HSA-5654693	FRS-mediated FGFR1 signaling	TAS
R-HSA-5654695	PI-3K cascade:FGFR2	TAS
R-HSA-5654696	Downstream signaling of activated FGFR2	TAS
R-HSA-5654700	FRS-mediated FGFR2 signaling	TAS
R-HSA-5654706	FRS-mediated FGFR3 signaling	TAS
R-HSA-5654708	Downstream signaling of activated FGFR3	TAS
R-HSA-5654710	PI-3K cascade:FGFR3	TAS
R-HSA-5654712	FRS-mediated FGFR4 signaling	TAS
R-HSA-5654716	Downstream signaling of activated FGFR4	TAS
R-HSA-5654720	PI-3K cascade:FGFR4	TAS
R-HSA-5654726	Negative regulation of FGFR1 signaling	TAS
R-HSA-5654727	Negative regulation of FGFR2 signaling	TAS
R-HSA-5654732	Negative regulation of FGFR3 signaling	TAS
R-HSA-5654733	Negative regulation of FGFR4 signaling	TAS
R-HSA-5654736	Signaling by FGFR1	TAS
R-HSA-5654738	Signaling by FGFR2	TAS
R-HSA-5654741	Signaling by FGFR3	TAS
R-HSA-5654743	Signaling by FGFR4	TAS
R-HSA-5663202	Diseases of signal transduction	TAS
R-HSA-5683057	MAPK family signaling cascades	TAS
R-HSA-5684996	MAPK1/MAPK3 signaling	TAS
R-HSA-6783589	Interleukin-6 family signaling	TAS
R-HSA-6806834	Signaling by MET	TAS
R-HSA-6811558	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	TAS
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-74751	Insulin receptor signalling cascade	TAS
R-HSA-74752	Signaling by Insulin receptor	TAS
R-HSA-76002	Platelet activation, signaling and aggregation	TAS
R-HSA-877300	Interferon gamma signaling	IEA
R-HSA-877312	Regulation of IFNG signaling	IEA
R-HSA-8853659	RET signaling	TAS
R-HSA-8854691	Interleukin-20 family signaling	TAS
R-HSA-8865999	MET activates PTPN11	TAS
R-HSA-8878171	Transcriptional regulation by RUNX1	TAS
R-HSA-8934593	Regulation of RUNX1 Expression and Activity	TAS
R-HSA-9006115	Signaling by NTRK2 (TRKB)	IEA
R-HSA-9006925	Intracellular signaling by second messengers	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	IEA
R-HSA-9008059	Interleukin-37 signaling	TAS
R-HSA-9028731	Activated NTRK2 signals through FRS2 and FRS3	IEA
R-HSA-909733	Interferon alpha/beta signaling	TAS
R-HSA-912694	Regulation of IFNA signaling	TAS
R-HSA-913531	Interferon Signaling	TAS
R-HSA-913531	Interferon Signaling	IEA
R-HSA-936964	Activation of IRF3/IRF7 mediated by TBK1/IKK epsilon	TAS
R-HSA-937061	TRIF(TICAM1)-mediated TLR4 signaling	TAS
R-HSA-9607240	FLT3 Signaling	IEA
R-HSA-9607240	FLT3 Signaling	TAS
R-HSA-9645135	STAT5 Activation	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C097240	15-deoxy-delta(12,14)-prostaglandin J2	15-deoxy-delta(12,14)-prostaglandin J2 results in increased phosphorylation of PTPN11 protein	12584205
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium affects the expression of PTPN11 mRNA	12710931
C532162	2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	PTPN11 protein mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	22315502
C532162	2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	tipifarnib promotes the reaction [PTPN11 protein mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine]	22315502
C477694	2,2',4,4',5-brominated diphenyl ether	2,2',4,4',5-brominated diphenyl ether results in increased expression of PTPN11 protein	19954255
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of PTPN11 mRNA	21346803
C085911	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [PTPN11 protein mutant form results in increased susceptibility to CSF2 protein]	22315502
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of PTPN11 mRNA	21346803
C030370	2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone	2-methoxy-5-(2',3',4'-trimethoxyphenyl)tropone results in decreased expression of PTPN11 mRNA	20206263
C572491	3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol results in increased expression of PTPN11 protein	26194647
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PTPN11 mRNA	27188386
C018511	4-dichlorobenzene	4-dichlorobenzene results in increased expression of PTPN11 mRNA	26975756
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PTPN11 mRNA	19150397
D000082	Acetaminophen	Acetaminophen results in decreased expression of PTPN11 mRNA	21420995
D000082	Acetaminophen	Acetaminophen results in increased expression of PTPN11 mRNA	22230336
D000082	Acetaminophen	Acetaminophen affects the expression of PTPN11 mRNA	17562736
C016601	afimoxifene	afimoxifene results in decreased activity of PTPN11 protein	17272397
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of PTPN11 mRNA	19770486
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PTPN11 mRNA	16483693
C031385	anthranilic acid	[oxovanadium IV binds to anthranilic acid analog] which results in decreased activity of PTPN11 protein	22864521
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of PTPN11 mRNA	24449571
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of PTPN11 mRNA	19763917
D001280	Atrazine	Atrazine results in decreased expression of PTPN11 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of PTPN11 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene metabolite results in increased expression of PTPN11 mRNA	26314263
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of PTPN11 mRNA	22228805
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of PTPN11 intron	30157460
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in increased expression of PTPN11 mRNA	26314263
D000069286	Bortezomib	Bortezomib results in decreased expression of PTPN11 mRNA	20977926
C013418	bromfenacoum	bromfenacoum results in increased expression of PTPN11 protein	28903499
C071482	calpeptin	calpeptin results in decreased phosphorylation of PTPN11 protein	25277379
C071482	calpeptin	LM11A-31 inhibits the reaction [calpeptin results in decreased phosphorylation of PTPN11 protein]	25277379
D002509	Cephaloridine	Cephaloridine results in decreased expression of PTPN11 mRNA	18500788
D002713	Chlorine	[Ozone co-treated with Chlorine] results in decreased expression of PTPN11 mRNA	18636392
D002809	Chondroitin Sulfates	PTPN11 protein binds to Chondroitin Sulfates	29794138
D002945	Cisplatin	Cisplatin results in decreased phosphorylation of PTPN11 protein	25277379
D002945	Cisplatin	LM11A-31 inhibits the reaction [Cisplatin results in decreased phosphorylation of PTPN11 protein]	25277379
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PTPN11 mRNA	19376846
C018021	cobaltous chloride	cobaltous chloride results in increased expression of PTPN11 mRNA	26314263
D019327	Copper Sulfate	Copper Sulfate results in increased expression of PTPN11 mRNA	19549813
D003471	Cuprizone	Cuprizone results in decreased expression of PTPN11 mRNA	27523638
D003474	Curcumin	Curcumin results in decreased expression of PTPN11	18462866
D016572	Cyclosporine	Cyclosporine results in decreased expression of PTPN11 mRNA	20106945
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of PTPN11 mRNA	21266533
D004041	Dietary Fats	Dietary Fats results in increased expression of PTPN11 mRNA	19030233
C007517	diphenyleneiodonium	diphenyleneiodonium inhibits the reaction [EDN1 protein results in increased oxidation of PTPN11 protein]	16391241
D004221	Disulfiram	Disulfiram results in decreased expression of PTPN11 mRNA	20530235
D004237	Diuron	Diuron results in decreased expression of PTPN11 mRNA	21551480
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PTPN11 mRNA	27188386
D017292	Doxazosin	[Doxazosin results in increased phosphorylation of and results in increased activity of EPHA2 protein] which results in increased phosphorylation of and results in increased activity of PTPN11 protein	22845314
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of PTPN11 protein	23301498
D000431	Ethanol	Ethanol affects the splicing of PTPN11 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of PTPN11 mRNA	30319688
D005466	Fluorocarbons	Fluorocarbons analog binds to and results in decreased activity of PTPN11 protein	27572461
D005466	Fluorocarbons	Fluorocarbons analog results in increased expression of PTPN11 mRNA	27572461
D005485	Flutamide	Flutamide results in increased expression of PTPN11 mRNA	24136188
D005557	Formaldehyde	Formaldehyde results in decreased expression of PTPN11 mRNA	23649840
C001277	geldanamycin	geldanamycin results in increased expression of PTPN11 mRNA	26705709
C056507	gemcitabine	gemcitabine affects the expression of PTPN11 mRNA	17039268
D019833	Genistein	[Genistein co-treated with Methoxychlor] results in increased expression of PTPN11 mRNA	21782745
D005839	Gentamicins	Gentamicins results in increased expression of PTPN11 mRNA	22061828
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of PTPN11 mRNA	22634610
C477872	IC 87114	IC 87114 inhibits the reaction [PTPN11 protein mutant form results in increased susceptibility to CSF2 protein]	22315502
C477872	IC 87114	PTPN11 protein mutant form results in increased susceptibility to IC 87114	22315502
C492448	ICG 001	ICG 001 results in increased expression of PTPN11 mRNA	26191083
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of PTPN11 mRNA	25613284
D007545	Isoproterenol	Isoproterenol results in increased expression of PTPN11 mRNA	20003209
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of PTPN11 mRNA	12057914
C575077	LM11A-31	LM11A-31 inhibits the reaction [calpeptin results in decreased phosphorylation of PTPN11 protein]	25277379
C575077	LM11A-31	LM11A-31 inhibits the reaction [Cisplatin results in decreased phosphorylation of PTPN11 protein]	25277379
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of PTPN11 mRNA	26378955
D008694	Methamphetamine	Methamphetamine results in decreased expression of PTPN11 mRNA	29802913
D008701	Methapyrilene	Methapyrilene results in decreased methylation of PTPN11 intron	30157460
D008731	Methoxychlor	[Genistein co-treated with Methoxychlor] results in increased expression of PTPN11 mRNA	21782745
D008731	Methoxychlor	Methoxychlor results in increased expression of PTPN11 mRNA	21782745
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of PTPN11 mRNA	26272509; 28001369;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PTPN11 mRNA	27188386
C030957	methylmercury II	methylmercury II results in increased expression of PTPN11 mRNA	26314263
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of PTPN11 mRNA	23649840
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of PTPN11 mRNA	29244179
C078131	N-(2(R)-2-(hydroxamidocarbonylmethyl)-4-methylpentanoyl)-L-tryptophan methylamide	N-(2(R)-2-(hydroxamidocarbonylmethyl)-4-methylpentanoyl)-L-tryptophan methylamide affects the reaction [PTPN11 protein affects the reaction [EDN1 protein results in increased phosphorylation of and results in increased activity of EGFR protein]]	16261333
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of PTPN11 mRNA	25554681
C051752	nefazodone	nefazodone results in increased expression of PTPN11 mRNA	24136188
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of PTPN11 mRNA	26251327
C512715	NSC-87877	NSC-87877 inhibits the reaction [[HLA-G protein results in increased phosphorylation of and results in increased activity of PTPN11 protein] which results in decreased phosphorylation of and results in decreased activity of MTOR protein]	21887223
C512715	NSC-87877	NSC-87877 inhibits the reaction [PTPN11 protein results in increased activity of HLA-G protein]	21887223
C512715	NSC-87877	NSC-87877 results in decreased activity of PTPN11 protein	21887223; 29031523;
C025589	ochratoxin A	ochratoxin A metabolite results in increased expression of PTPN11 mRNA	26314263
C025589	ochratoxin A	ochratoxin A results in increased expression of PTPN11 mRNA	26314263
C075743	oxovanadium IV	[oxovanadium IV binds to anthranilic acid analog] which results in decreased activity of PTPN11 protein	22864521
C075743	oxovanadium IV	[oxovanadium IV binds to salicylideneaniline analog] which results in decreased activity of PTPN11 protein	22864521
C075743	oxovanadium IV	[oxovanadium IV binds to Schiff Bases] which results in decreased activity of PTPN11 protein	22864521
D010126	Ozone	[Ozone co-treated with Chlorine] results in decreased expression of PTPN11 mRNA	18636392
C539348	perfluorobutanesulfonic acid	perfluorobutanesulfonic acid binds to and results in decreased activity of PTPN11 protein	27572461
C033094	perfluorobutyric acid	perfluorobutyric acid binds to and results in decreased activity of PTPN11 protein	27572461
C036567	perfluorodecanoic acid	perfluorodecanoic acid binds to and results in decreased activity of PTPN11 protein	27572461
C522391	perfluorododecanoic acid	perfluorododecanoic acid binds to and results in decreased activity of PTPN11 protein	27572461
C000610525	perfluoroheptanoic acid	perfluoroheptanoic acid binds to and results in decreased activity of PTPN11 protein	27572461
C471071	perfluorohexanesulfonic acid	perfluorohexanesulfonic acid binds to and results in decreased activity of PTPN11 protein	27572461
C479228	perfluorohexanoic acid	perfluorohexanoic acid binds to and results in decreased activity of PTPN11 protein	27572461
C584865	perfluorononanoic acid	perfluorononanoic acid binds to and results in decreased activity of PTPN11 protein	27572461
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid binds to and results in decreased activity of and results in increased expression of PTPN11 protein	27572461
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in increased expression of PTPN11 mRNA	27572461
C023036	perfluorooctanoic acid	perfluorooctanoic acid binds to and results in decreased activity of and results in increased expression of PTPN11 protein	27572461
C586085	perfluoroundecanoic acid	perfluoroundecanoic acid binds to and results in decreased activity of PTPN11 protein	27572461
D010634	Phenobarbital	Phenobarbital affects the expression of PTPN11 mRNA	23091169
C529675	phenylhydrazonopyrazolone sulfonate 1	phenylhydrazonopyrazolone sulfonate 1 promotes the reaction [ARSB protein affects the activity of PTPN11 protein]	29794138
C006253	pirinixic acid	pirinixic acid results in increased expression of PTPN11 mRNA	12832660
D010936	Plant Extracts	Plant Extracts results in increased expression of PTPN11 mRNA	23557933
D010936	Plant Extracts	Plant Extracts results in decreased phosphorylation of PTPN11 protein	31306686
D011078	Polychlorinated Biphenyls	Polychlorinated Biphenyls affects the expression of PTPN11 mRNA	21334430
D000077185	Resveratrol	Resveratrol inhibits the reaction [COL1A1 protein promotes the reaction [PTPN11 protein binds to BTK protein]]	26482867
D000077185	Resveratrol	Resveratrol inhibits the reaction [COL1A1 protein promotes the reaction [PTPN11 protein binds to SYK protein]]	26482867
D000077185	Resveratrol	Resveratrol inhibits the reaction [COL1A1 protein promotes the reaction [PTPN11 protein binds to VAV1 protein]]	26482867
D000077185	Resveratrol	Resveratrol inhibits the reaction [COL1A1 protein results in increased oxidation of and results in decreased activity of PTPN11 protein]	26482867
D000077185	Resveratrol	Resveratrol results in increased expression of PTPN11 mRNA	26911335
D000077185	Resveratrol	Resveratrol results in increased expression of PTPN11 protein	26911335
D000077185	Resveratrol	PTPN11 protein affects the reaction [Resveratrol inhibits the reaction [EGF protein results in increased phosphorylation of and results in increased activity of AKT1 protein]]	15849355
D000077185	Resveratrol	Resveratrol results in increased activity of PTPN11 protein	15849355
C510217	salicylideneaniline	[oxovanadium IV binds to salicylideneaniline analog] which results in decreased activity of PTPN11 protein	22864521
D012545	Schiff Bases	[oxovanadium IV binds to Schiff Bases] which results in decreased activity of PTPN11 protein	22864521
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of PTPN11 mRNA	25351596
C017947	sodium arsenite	sodium arsenite results in decreased expression of PTPN11 mRNA	12679051
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of PTPN11 mRNA	27862939
D013229	Stearic Acids	Stearic Acids analog binds to and results in decreased activity of PTPN11 protein	27572461
D013229	Stearic Acids	Stearic Acids analog results in increased expression of PTPN11 mRNA	27572461
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of PTPN11 mRNA	26378955
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PTPN11 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PTPN11 mRNA	19770486
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of PTPN11 mRNA	25613284
D013893	Thiram	Thiram results in decreased expression of PTPN11 mRNA	20530235
C016151	tinuvin	tinuvin analog results in decreased expression of PTPN11 mRNA	30315675
C402769	tipifarnib	tipifarnib promotes the reaction [PTPN11 protein mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine]	22315502
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of PTPN11 protein	30291989
C011559	tributyltin	tributyltin results in increased expression of PTPN11 mRNA	26314263
C046488	trimethyltin	trimethyltin results in increased expression of PTPN11 mRNA	21435392
D014635	Valproic Acid	Valproic Acid results in increased expression of PTPN11 mRNA	23527032
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of PTPN11 gene	25560391
C025643	vinclozolin	vinclozolin affects the expression of PTPN11 mRNA	19015723
D014750	Vincristine	Vincristine results in decreased expression of PTPN11 mRNA	23649840
D024483	Vitamin K 3	Vitamin K 3 affects the expression of PTPN11 mRNA	20044591

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0209	Deafness
KW-0225	Disease mutation
KW-0378	Hydrolase
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0904	Protein phosphatase
KW-1185	Reference proteome
KW-0677	Repeat
KW-0727	SH2 domain

Interpro

InterPro ID	InterPro Term
IPR029021	Prot-tyrosine_phosphatase-like
IPR000242	PTPase_domain
IPR000980	SH2
IPR036860	SH2_dom_sf
IPR016130	Tyr_Pase_AS
IPR003595	Tyr_Pase_cat
IPR012152	Tyr_Pase_non-rcpt_typ-6/11
IPR000387	TYR_PHOSPHATASE_dom

PROSITE

PROSITE ID	PROSITE Term
PS50001	SH2
PS00383	TYR_PHOSPHATASE_1
PS50056	TYR_PHOSPHATASE_2
PS50055	TYR_PHOSPHATASE_PTP

Pfam

Pfam ID	Pfam Term
PF00017	SH2
PF00102	Y_phosphatase

Gene: PTPN11

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction