CleftGeneDB-Search

Gene: DHCR7

Basic information

Tag	Content
Uniprot ID	Q9UBM7; B2R6Z2; O60492; O60717;
Entrez ID	1717
Genbank protein ID	AAC05086.1; AAC18345.1; AAH00054.1; AAD02816.1; AAD24762.1; AAD09766.1; BAG35639.1;
Genbank nucleotide ID	NM_001163817.1; NM_001360.2;
Ensembl protein ID	ENSP00000384739; ENSP00000347717;
Ensembl nucleotide ID	ENSG00000172893
Gene name	7-dehydrocholesterol reductase
Gene symbol	DHCR7
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Production of cholesterol by reduction of C7-C8 double bond of 7-dehydrocholesterol (7-DHC).
Sequence	MAAKSQPNIP KAKSLDGVTN DRTASQGQWG RAWEVDWFSL ASVIFLLLFA PFIVYYFIMA 60 CDQYSCALTG PVVDIVTGHA RLSDIWAKTP PITRKAAQLY TLWVTFQVLL YTSLPDFCHK 120 FLPGYVGGIQ EGAVTPAGVV NKYQINGLQA WLLTHLLWFA NAHLLSWFSP TIIFDNWIPL 180 LWCANILGYA VSTFAMVKGY FFPTSARDCK FTGNFFYNYM MGIEFNPRIG KWFDFKLFFN 240 GRPGIVAWTL INLSFAAKQR ELHSHVTNAM VLVNVLQAIY VIDFFWNETW YLKTIDICHD 300 HFGWYLGWGD CVWLPYLYTL QGLYLVYHPV QLSTPHAVGV LLLGLVGYYI FRVANHQKDL 360 FRRTDGRCLI WGRKPKVIEC SYTSADGQRH HSKLLVSGFW GVARHFNYVG DLMGSLAYCL 420 ACGGGHLLPY FYIIYMAILL THRCLRDEHR CASKYGRDWE RYTAAVPYRL LPGIF 475

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	DHCR7	483675	E2RNQ5		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	DHCR7		A0A452EN40		Capra hircus	Prediction	More>>
1:1 ortholog	DHCR7		F6TQP5		Equus caballus	Prediction	More>>
1:1 ortholog	DHCR7	1717	Q9UBM7		Homo sapiens	Prediction	More>>
1:1 ortholog	Dhcr7	13360	O88455	CPO	Mus musculus	Publication	More>>
1:1 ortholog	DHCR7	451393	H2R2E7		Pan troglodytes	Prediction	More>>
1:1 ortholog	DHCR7		I3LKI5		Sus scrofa	Prediction	More>>
1:1 ortholog	Dhcr7	64191	Q9Z2Z8		Rattus norvegicus	Prediction	More>>
1:1 ortholog	dhcr7		F1QKG5		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000224026	p.Met1Val	missense variant	-	NC_000011.10:g.71444952T>C	ClinVar
RCV000169384	p.Met1Val	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444952T>C	ClinVar
RCV000169218	p.Met1Ile	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444950C>T	ClinVar
rs1393635021	p.Ala2Ser	missense variant	-	NC_000011.10:g.71444949C>A	gnomAD
rs1157310044	p.Ala3Thr	missense variant	-	NC_000011.10:g.71444946C>T	TOPMed
rs1127869	p.Ser5Leu	missense variant	-	NC_000011.10:g.71444939G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1127869	p.Ser5Leu	missense variant	-	NC_000011.10:g.71444939G>A	UniProt,dbSNP
VAR_067456	p.Ser5Leu	missense variant	-	NC_000011.10:g.71444939G>A	UniProt
rs1127869	p.Ser5Trp	missense variant	-	NC_000011.10:g.71444939G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000675039	p.Ser5Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444939G>A	ClinVar
rs1057516977	p.Gln6Ter	stop gained	-	NC_000011.10:g.71444937G>A	gnomAD
RCV000411661	p.Gln6Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444937G>A	ClinVar
rs1205809191	p.Asn8Asp	missense variant	-	NC_000011.10:g.71444931T>C	gnomAD
rs756194690	p.Asn8Ser	missense variant	-	NC_000011.10:g.71444930T>C	ExAC,TOPMed,gnomAD
rs115595829	p.Ile9Phe	missense variant	-	NC_000011.10:g.71444928T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115595829	p.Ile9Val	missense variant	-	NC_000011.10:g.71444928T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile9Asn	missense variant	-	NC_000011.10:g.71444927A>T	NCI-TCGA
RCV000514501	p.Ile9Phe	missense variant	-	NC_000011.10:g.71444928T>A	ClinVar
rs139166382	p.Pro10Ala	missense variant	-	NC_000011.10:g.71444925G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000177130	p.Pro10Ala	missense variant	-	NC_000011.10:g.71444925G>C	ClinVar
rs1279200193	p.Ala12Val	missense variant	-	NC_000011.10:g.71444918G>A	gnomAD
rs764925295	p.Lys13Arg	missense variant	-	NC_000011.10:g.71444915T>C	ExAC,TOPMed,gnomAD
rs1440025932	p.Lys13Glu	missense variant	-	NC_000011.10:g.71444916T>C	gnomAD
rs1240758105	p.Asp16Gly	missense variant	-	NC_000011.10:g.71444906T>C	gnomAD
rs1286169625	p.Asp16His	missense variant	-	NC_000011.10:g.71444907C>G	TOPMed
NCI-TCGA novel	p.Asp16Val	missense variant	-	NC_000011.10:g.71444906T>A	NCI-TCGA
rs770947907	p.Val18Phe	missense variant	-	NC_000011.10:g.71444901C>A	ExAC,TOPMed,gnomAD
rs770947907	p.Val18Ile	missense variant	-	NC_000011.10:g.71444901C>T	ExAC,TOPMed,gnomAD
rs771795285	p.Asn20Lys	missense variant	-	NC_000011.10:g.71444893A>T	ExAC,gnomAD
rs772572550	p.Asn20Asp	missense variant	-	NC_000011.10:g.71444895T>C	ExAC,TOPMed,gnomAD
rs1425357779	p.Asn20Ser	missense variant	-	NC_000011.10:g.71444894T>C	gnomAD
RCV000756011	p.Asn20Asp	missense variant	-	NC_000011.10:g.71444895T>C	ClinVar
COSM6134312	p.Asp21His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71444892C>G	NCI-TCGA Cosmic
rs1253314771	p.Thr23Ser	missense variant	-	NC_000011.10:g.71444885G>C	gnomAD
NCI-TCGA novel	p.Thr23Ala	missense variant	-	NC_000011.10:g.71444886T>C	NCI-TCGA
rs146867923	p.Ala24Thr	missense variant	-	NC_000011.10:g.71444883C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs530687139	p.Ala24Glu	missense variant	-	NC_000011.10:g.71444882G>T	1000Genomes,ExAC,gnomAD
rs146867923	p.Ala24Ser	missense variant	-	NC_000011.10:g.71444883C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs530687139	p.Ala24Val	missense variant	-	NC_000011.10:g.71444882G>A	1000Genomes,ExAC,gnomAD
RCV000380891	p.Ala24Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444883C>A	ClinVar
rs780570846	p.Gly27Arg	missense variant	-	NC_000011.10:g.71444874C>T	ExAC,gnomAD
rs756564881	p.Gln28Ter	stop gained	-	NC_000011.10:g.71444871G>A	ExAC,gnomAD
RCV000411258	p.Gln28Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444871G>A	ClinVar
RCV000336499	p.Gln28His	missense variant	-	NC_000011.10:g.71444869C>A	ClinVar
rs372855459	p.Gln28His	missense variant	-	NC_000011.10:g.71444869C>A	ESP,ExAC,gnomAD
rs200334114	p.Gly30Asp	missense variant	-	NC_000011.10:g.71444864C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1222259994	p.Gly30Ser	missense variant	-	NC_000011.10:g.71444865C>T	gnomAD
rs200334114	p.Gly30Ala	missense variant	-	NC_000011.10:g.71444864C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000449598	p.Gly30Ala	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444864C>G	ClinVar
rs370307688	p.Arg31His	missense variant	-	NC_000011.10:g.71444861C>T	ESP,ExAC,TOPMed,gnomAD
rs367585401	p.Arg31Cys	missense variant	-	NC_000011.10:g.71444862G>A	ESP,ExAC,TOPMed,gnomAD
RCV000594191	p.Arg31His	missense variant	-	NC_000011.10:g.71444861C>T	ClinVar
RCV000681774	p.Arg31Cys	missense variant	-	NC_000011.10:g.71444862G>A	ClinVar
rs367585401	p.Arg31Ser	missense variant	-	NC_000011.10:g.71444862G>T	ESP,ExAC,TOPMed,gnomAD
rs1193320383	p.Trp37Arg	missense variant	-	NC_000011.10:g.71444205A>G	gnomAD
rs750345068	p.Trp37Cys	missense variant	-	NC_000011.10:g.71444203C>A	ExAC,gnomAD
rs750345068	p.Trp37Ter	stop gained	-	NC_000011.10:g.71444203C>T	ExAC,gnomAD
RCV000169596	p.Trp37Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444203C>T	ClinVar
rs1467346010	p.Ser39Leu	missense variant	-	NC_000011.10:g.71444198G>A	gnomAD
rs761265690	p.Ala41Val	missense variant	-	NC_000011.10:g.71444192G>A	ExAC,TOPMed,gnomAD
RCV000706484	p.Ala41Val	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444192G>A	ClinVar
RCV000307109	p.Ala41Val	missense variant	-	NC_000011.10:g.71444192G>A	ClinVar
RCV000717334	p.Ala41Val	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71444192G>A	ClinVar
rs200984695	p.Val43Ile	missense variant	-	NC_000011.10:g.71444187C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142897396	p.Ile44Thr	missense variant	-	NC_000011.10:g.71444183A>G	ESP,ExAC,TOPMed,gnomAD
RCV000333892	p.Ile44Thr	missense variant	-	NC_000011.10:g.71444183A>G	ClinVar
rs746175164	p.Leu46Arg	missense variant	-	NC_000011.10:g.71444177A>C	ExAC,gnomAD
rs1365132949	p.Leu47Pro	missense variant	-	NC_000011.10:g.71444174A>G	gnomAD
rs140721259	p.Leu47Val	missense variant	-	NC_000011.10:g.71444175G>C	ESP,ExAC,TOPMed,gnomAD
rs104886034	p.Ala50Asp	missense variant	-	NC_000011.10:g.71444165G>T	gnomAD
rs747103823	p.Ala50Ser	missense variant	-	NC_000011.10:g.71444166C>A	ExAC,TOPMed,gnomAD
rs104886034	p.Ala50Val	missense variant	-	NC_000011.10:g.71444165G>A	gnomAD
rs747103823	p.Ala50Thr	missense variant	-	NC_000011.10:g.71444166C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro51Ala	missense variant	-	NC_000011.10:g.71444163G>C	NCI-TCGA
rs104886035	p.Pro51Ser	missense variant	-	NC_000011.10:g.71444163G>A	TOPMed
RCV000178160	p.Pro51Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444163G>A	ClinVar
RCV000079646	p.Pro51Ser	missense variant	-	NC_000011.10:g.71444163G>A	ClinVar
rs758757355	p.Phe52Leu	missense variant	-	NC_000011.10:g.71444158G>C	ExAC,TOPMed,gnomAD
rs1186653102	p.Ile53Val	missense variant	-	NC_000011.10:g.71444157T>C	TOPMed
rs779222334	p.Val54Ile	missense variant	-	NC_000011.10:g.71444154C>T	ExAC,TOPMed,gnomAD
RCV000674781	p.Val54Ile	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444154C>T	ClinVar
rs374941029	p.Tyr55Ter	stop gained	-	NC_000011.10:g.71444149G>C	ESP,ExAC,gnomAD
rs1480350925	p.Tyr56Asn	missense variant	-	NC_000011.10:g.71444148A>T	gnomAD
rs1178953604	p.Tyr56Ter	stop gained	-	NC_000011.10:g.71444146G>T	TOPMed
rs1231628274	p.Phe57Val	missense variant	-	NC_000011.10:g.71444145A>C	TOPMed,gnomAD
rs1231628274	p.Phe57Leu	missense variant	-	NC_000011.10:g.71444145A>G	TOPMed,gnomAD
rs1207948894	p.Phe57Tyr	missense variant	-	NC_000011.10:g.71444144A>T	gnomAD
rs104886032	p.Ile58Phe	missense variant	-	NC_000011.10:g.71444142T>A	ExAC,gnomAD
rs104886032	p.Ile58Val	missense variant	-	NC_000011.10:g.71444142T>C	ExAC,gnomAD
rs1232635305	p.Ala60Val	missense variant	-	NC_000011.10:g.71444135G>A	gnomAD
rs761788547	p.Cys61Phe	missense variant	-	NC_000011.10:g.71444132C>A	ExAC,gnomAD
rs104886037	p.Asp62Val	missense variant	-	NC_000011.10:g.71444129T>A	ExAC,gnomAD
rs1372014207	p.Gln63Ter	stop gained	-	NC_000011.10:g.71444127G>A	gnomAD
rs1044482	p.Gln63His	missense variant	-	NC_000011.10:g.71444125C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143999854	p.Ala67Thr	missense variant	-	NC_000011.10:g.71444115C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143999854	p.Ala67Ser	missense variant	-	NC_000011.10:g.71444115C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000079648	p.Ala67Thr	missense variant	-	NC_000011.10:g.71444115C>T	ClinVar
rs144512551	p.Gly70Ser	missense variant	-	NC_000011.10:g.71444106C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000153144	p.Gly70Ser	missense variant	-	NC_000011.10:g.71444106C>T	ClinVar
rs144512551	p.Gly70Arg	missense variant	-	NC_000011.10:g.71444106C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1177091875	p.Pro71Ser	missense variant	-	NC_000011.10:g.71444103G>A	gnomAD
rs374874199	p.Asp74Ala	missense variant	-	NC_000011.10:g.71444093T>G	ESP
rs773481689	p.Asp74Asn	missense variant	-	NC_000011.10:g.71444094C>T	ExAC,gnomAD
rs183441430	p.Asp74Glu	missense variant	-	NC_000011.10:g.71444092G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs370748173	p.Ile75Phe	missense variant	-	NC_000011.10:g.71444091T>A	ESP,ExAC,TOPMed,gnomAD
RCV000178161	p.Ile75Phe	missense variant	-	NC_000011.10:g.71444091T>A	ClinVar
RCV000706474	p.Ile75Phe	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444091T>A	ClinVar
rs368473756	p.Val76Ile	missense variant	-	NC_000011.10:g.71444088C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs781010025	p.Thr77Ile	missense variant	-	NC_000011.10:g.71444084G>A	ExAC,gnomAD
rs373352413	p.Gly78Arg	missense variant	-	NC_000011.10:g.71444082C>T	ESP,ExAC,TOPMed,gnomAD
RCV000732495	p.Gly78Glu	missense variant	-	NC_000011.10:g.71444081C>T	ClinVar
RCV000672218	p.Gly78Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444082C>T	ClinVar
rs752153214	p.Arg81Gln	missense variant	-	NC_000011.10:g.71444072C>T	ExAC,TOPMed,gnomAD
RCV000277230	p.Arg81Trp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444073G>A	ClinVar
rs775735710	p.Arg81Trp	missense variant	-	NC_000011.10:g.71444073G>A	ExAC,TOPMed,gnomAD
rs775735710	p.Arg81Gly	missense variant	-	NC_000011.10:g.71444073G>C	ExAC,TOPMed,gnomAD
RCV000730759	p.Arg81Trp	missense variant	-	NC_000011.10:g.71444073G>A	ClinVar
NCI-TCGA novel	p.Ser83Ala	missense variant	-	NC_000011.10:g.71444067A>C	NCI-TCGA
rs764847274	p.Ser83Leu	missense variant	-	NC_000011.10:g.71444066G>A	ExAC,gnomAD
rs776923495	p.Asp84Gly	missense variant	-	NC_000011.10:g.71444063T>C	ExAC
rs375997113	p.Thr89Ala	missense variant	-	NC_000011.10:g.71444049T>C	ESP,TOPMed
rs375997113	p.Thr89Ser	missense variant	-	NC_000011.10:g.71444049T>A	ESP,TOPMed
rs773862228	p.Pro90Ser	missense variant	-	NC_000011.10:g.71444046G>A	ExAC,gnomAD
rs1410107835	p.Pro91Ser	missense variant	-	NC_000011.10:g.71444043G>A	TOPMed,gnomAD
rs1161391135	p.Pro91Leu	missense variant	-	NC_000011.10:g.71444042G>A	gnomAD
rs80338853	p.Thr93Met	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71444036G>A	ESP,ExAC,TOPMed,gnomAD
rs80338853	p.Thr93Met	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444036G>A	UniProt,dbSNP
VAR_012718	p.Thr93Met	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444036G>A	UniProt
RCV000454251	p.Thr93Met	missense variant	-	NC_000011.10:g.71444036G>A	ClinVar
rs541593878	p.Arg94Ser	missense variant	-	NC_000011.10:g.71444032C>A	gnomAD
rs1348232298	p.Ala96Val	missense variant	-	NC_000011.10:g.71444027G>A	TOPMed
rs150563256	p.Ala97Thr	missense variant	-	NC_000011.10:g.71444025C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000370999	p.Ala97Thr	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444025C>T	ClinVar
rs104886039	p.Gln98Ter	stop gained	-	NC_000011.10:g.71444022G>A	ESP,ExAC,TOPMed,gnomAD
RCV000489856	p.Gln98Ter	nonsense	-	NC_000011.10:g.71444022G>A	ClinVar
rs104886041	p.Leu99Pro	missense variant	-	NC_000011.10:g.71444018A>G	ExAC,gnomAD
RCV000756013	p.Leu99Pro	missense variant	-	NC_000011.10:g.71444018A>G	ClinVar
RCV000668709	p.Leu99Pro	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71444018A>G	ClinVar
COSM3452916	p.Tyr100Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71444016A>T	NCI-TCGA Cosmic
rs1292543464	p.Thr101Ile	missense variant	-	NC_000011.10:g.71444012G>A	gnomAD
rs1342235041	p.Leu102Ser	missense variant	-	NC_000011.10:g.71444009A>G	TOPMed,gnomAD
rs1313146591	p.Leu102Phe	missense variant	-	NC_000011.10:g.71444008C>G	gnomAD
rs1340032271	p.Val104Phe	missense variant	-	NC_000011.10:g.71444004C>A	gnomAD
rs1381454160	p.Thr105Asn	missense variant	-	NC_000011.10:g.71444000G>T	gnomAD
rs104886040	p.Gln107His	missense variant	-	NC_000011.10:g.71443993C>G	ESP,ExAC,TOPMed,gnomAD
rs121912195	p.Leu109Pro	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442349A>G	UniProt,dbSNP
VAR_023150	p.Leu109Pro	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442349A>G	UniProt
rs121912195	p.Leu109Pro	missense variant	-	NC_000011.10:g.71442349A>G	TOPMed,gnomAD
RCV000665858	p.Leu109Pro	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442349A>G	ClinVar
rs1358554992	p.Tyr111Cys	missense variant	-	NC_000011.10:g.71442343T>C	TOPMed
rs770040020	p.Thr112Arg	missense variant	-	NC_000011.10:g.71442340G>C	ExAC,TOPMed,gnomAD
rs770040020	p.Thr112Met	missense variant	-	NC_000011.10:g.71442340G>A	ExAC,TOPMed,gnomAD
VAR_023151	p.Ser113Cys	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
rs981021248	p.Pro115Ser	missense variant	-	NC_000011.10:g.71442332G>A	TOPMed,gnomAD
rs981021248	p.Pro115Thr	missense variant	-	NC_000011.10:g.71442332G>T	TOPMed,gnomAD
rs1170473492	p.Pro115Leu	missense variant	-	NC_000011.10:g.71442331G>A	gnomAD
VAR_074180	p.Cys118Arg	Missense	-	-	UniProt
rs28938174	p.His119Arg	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71442319T>C	TOPMed
rs28938174	p.His119Leu	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71442319T>A	TOPMed
rs1180916134	p.His119Tyr	missense variant	-	NC_000011.10:g.71442320G>A	gnomAD
COSM467368	p.His119Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71442320G>C	NCI-TCGA Cosmic
RCV000624580	p.His119Arg	missense variant	Inborn genetic diseases	NC_000011.10:g.71442319T>C	ClinVar
RCV000274996	p.His119Leu	missense variant	-	NC_000011.10:g.71442319T>A	ClinVar
RCV000007182	p.His119Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442319T>A	ClinVar
rs771866134	p.Lys120Glu	missense variant	-	NC_000011.10:g.71442317T>C	ExAC,TOPMed,gnomAD
rs1205519483	p.Pro123Leu	missense variant	-	NC_000011.10:g.71442307G>A	gnomAD
rs748879289	p.Gly124Arg	missense variant	-	NC_000011.10:g.71442305C>G	ExAC,TOPMed,gnomAD
rs748879289	p.Gly124Ser	missense variant	-	NC_000011.10:g.71442305C>T	ExAC,TOPMed,gnomAD
rs143587828	p.Val126Ile	missense variant	-	NC_000011.10:g.71442299C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val126Leu	missense variant	-	NC_000011.10:g.71442299C>A	NCI-TCGA
RCV000178841	p.Val126Ile	missense variant	-	NC_000011.10:g.71442299C>T	ClinVar
RCV000297594	p.Val126Ile	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442299C>T	ClinVar
RCV000717845	p.Val126Ile	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71442299C>T	ClinVar
rs1287803816	p.Gly128Asp	missense variant	-	NC_000011.10:g.71442292C>T	gnomAD
rs757703242	p.Ile129Thr	missense variant	-	NC_000011.10:g.71442289A>G	ExAC,gnomAD
rs138215017	p.Ile129Leu	missense variant	-	NC_000011.10:g.71442290T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138215017	p.Ile129Val	missense variant	-	NC_000011.10:g.71442290T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1414500492	p.Gly132Arg	missense variant	-	NC_000011.10:g.71442281C>T	gnomAD
rs751818759	p.Gly132Glu	missense variant	-	NC_000011.10:g.71442280C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala133Val	missense variant	-	NC_000011.10:g.71442277G>A	NCI-TCGA
rs763333510	p.Ala133Thr	missense variant	-	NC_000011.10:g.71442278C>T	ExAC,TOPMed,gnomAD
RCV000674190	p.Ala133Thr	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442278C>T	ClinVar
rs201466849	p.Val134Met	missense variant	-	NC_000011.10:g.71442275C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000079653	p.Val134Leu	missense variant	-	NC_000011.10:g.71442275C>A	ClinVar
rs201466849	p.Val134Leu	missense variant	-	NC_000011.10:g.71442275C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000674435	p.Val134Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71442275C>A	ClinVar
COSM4946699	p.Thr135Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71442271G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro136Leu	missense variant	-	NC_000011.10:g.71442268G>A	NCI-TCGA
rs563056315	p.Ala137Ser	missense variant	-	NC_000011.10:g.71442266C>A	1000Genomes,ExAC,gnomAD
VAR_023152	p.Gly138Val	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
rs769816544	p.Val139Ile	missense variant	-	NC_000011.10:g.71441438C>T	ExAC,TOPMed,gnomAD
rs1405934579	p.Val139Gly	missense variant	-	NC_000011.10:g.71441437A>C	gnomAD
rs373908315	p.Val140Met	missense variant	-	NC_000011.10:g.71441435C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1441002815	p.Lys142Glu	missense variant	-	NC_000011.10:g.71441429T>C	gnomAD
RCV000760785	p.Tyr143Ter	nonsense	-	NC_000011.10:g.71441424A>C	ClinVar
rs1393186135	p.Tyr143Ter	stop gained	-	NC_000011.10:g.71441424A>C	gnomAD
rs776246504	p.Gln144Arg	missense variant	-	NC_000011.10:g.71441422T>C	ExAC,TOPMed,gnomAD
rs1555146475	p.Ile145Leu	missense variant	-	NC_000011.10:g.71441420T>G	-
rs1555146475	p.Ile145Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441420T>G	UniProt,dbSNP
VAR_023153	p.Ile145Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441420T>G	UniProt
RCV000674923	p.Ile145Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441420T>G	ClinVar
rs949177	p.Asn146Lys	missense variant	-	NC_000011.10:g.71441415A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs949177	p.Asn146Lys	missense variant	-	NC_000011.10:g.71441415A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000779078	p.Asn146Lys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441415A>C	ClinVar
rs777425801	p.Gly147Asp	missense variant	-	NC_000011.10:g.71441413C>T	ExAC,TOPMed,gnomAD
rs777425801	p.Gly147Asp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441413C>T	UniProt,dbSNP
VAR_023154	p.Gly147Asp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441413C>T	UniProt
rs1248898751	p.Gly147Ser	missense variant	-	NC_000011.10:g.71441414C>T	TOPMed,gnomAD
RCV000421810	p.Gly147Asp	missense variant	-	NC_000011.10:g.71441413C>T	ClinVar
RCV000665794	p.Gly147Asp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441413C>T	ClinVar
rs1401635626	p.Leu148Pro	missense variant	-	NC_000011.10:g.71441410A>G	TOPMed
rs104894213	p.Trp151Ter	stop gained	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71441400C>T	-
rs11555217	p.Trp151Ser	missense variant	-	NC_000011.10:g.71441401C>G	ESP,ExAC,TOPMed,gnomAD
rs11555217	p.Trp151Ter	stop gained	-	NC_000011.10:g.71441401C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp151Arg	missense variant	-	NC_000011.10:g.71441402A>T	NCI-TCGA
RCV000020436	p.Trp151Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441401C>T	ClinVar
RCV000079655	p.Trp151Ter	nonsense	-	NC_000011.10:g.71441401C>T	ClinVar
RCV000007186	p.Trp151Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441400C>T	ClinVar
RCV000414879	p.Trp151Ter	nonsense	-	NC_000011.10:g.71441401C>T	ClinVar
rs143312232	p.Thr154Met	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441392G>A	UniProt,dbSNP
VAR_023155	p.Thr154Met	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441392G>A	UniProt
rs143312232	p.Thr154Met	missense variant	-	NC_000011.10:g.71441392G>A	ESP,ExAC,TOPMed,gnomAD
rs143312232	p.Thr154Arg	missense variant	-	NC_000011.10:g.71441392G>C	ESP,ExAC,TOPMed,gnomAD
RCV000169290	p.Thr154Met	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441392G>A	ClinVar
rs779417085	p.Thr154Ala	missense variant	-	NC_000011.10:g.71441393T>C	ExAC,gnomAD
RCV000790776	p.Thr154Arg	missense variant	-	NC_000011.10:g.71441392G>C	ClinVar
RCV000724648	p.Leu157Pro	missense variant	-	NC_000011.10:g.71441383A>G	ClinVar
rs753960624	p.Leu157Pro	missense variant	-	NC_000011.10:g.71441383A>G	ExAC,TOPMed,gnomAD
rs766443353	p.Trp158Cys	missense variant	-	NC_000011.10:g.71441379C>A	ExAC,gnomAD
rs1343783336	p.Trp158Ter	stop gained	-	NC_000011.10:g.71441380C>T	gnomAD
rs756416682	p.Phe159Leu	missense variant	-	NC_000011.10:g.71441378A>G	ExAC,gnomAD
rs1364850343	p.Ala160Thr	missense variant	-	NC_000011.10:g.71441375C>T	TOPMed,gnomAD
rs767716202	p.Ala162Thr	missense variant	-	NC_000011.10:g.71441369C>T	ExAC,gnomAD
RCV000079656	p.Ala162Val	missense variant	-	NC_000011.10:g.71441368G>A	ClinVar
rs398123606	p.Ala162Val	missense variant	-	NC_000011.10:g.71441368G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000717756	p.Ala162Val	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71441368G>A	ClinVar
rs752494910	p.His163Arg	missense variant	-	NC_000011.10:g.71441365T>C	ExAC,gnomAD
rs774978807	p.Leu164Ile	missense variant	-	NC_000011.10:g.71441363G>T	ExAC,gnomAD
rs774978807	p.Leu164Phe	missense variant	-	NC_000011.10:g.71441363G>A	ExAC,gnomAD
rs774978807	p.Leu164Val	missense variant	-	NC_000011.10:g.71441363G>C	ExAC,gnomAD
rs776334336	p.Trp167Ser	missense variant	-	NC_000011.10:g.71441353C>G	ExAC,gnomAD
rs1427321619	p.Trp167Cys	missense variant	-	NC_000011.10:g.71441352C>G	TOPMed,gnomAD
rs80338855	p.Ser169Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441347G>A	UniProt,dbSNP
VAR_023156	p.Ser169Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441347G>A	UniProt
rs80338855	p.Ser169Leu	missense variant	-	NC_000011.10:g.71441347G>A	ESP,ExAC,TOPMed,gnomAD
rs80338855	p.Ser169Trp	missense variant	-	NC_000011.10:g.71441347G>C	ESP,ExAC,TOPMed,gnomAD
RCV000756012	p.Ser169Leu	missense variant	-	NC_000011.10:g.71441347G>A	ClinVar
rs150459687	p.Pro170Leu	missense variant	-	NC_000011.10:g.71441344G>A	ESP,TOPMed
rs150459687	p.Pro170Arg	missense variant	-	NC_000011.10:g.71441344G>C	ESP,TOPMed
rs748562900	p.Ile172Val	missense variant	-	NC_000011.10:g.71441339T>C	ExAC,TOPMed,gnomAD
rs779219548	p.Ile173Phe	missense variant	-	NC_000011.10:g.71441336T>A	ExAC,gnomAD
rs886044698	p.Phe174Val	missense variant	-	NC_000011.10:g.71441333A>C	TOPMed,gnomAD
RCV000270483	p.Phe174Val	missense variant	-	NC_000011.10:g.71441333A>C	ClinVar
RCV000670698	p.Phe174Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441332A>G	ClinVar
rs769218623	p.Phe174Ser	missense variant	-	NC_000011.10:g.71441332A>G	ExAC,gnomAD
rs368269558	p.Asp175Asn	missense variant	-	NC_000011.10:g.71441330C>T	ESP,ExAC,TOPMed,gnomAD
RCV000665387	p.Asp175Asn	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441330C>T	ClinVar
rs1223603615	p.Ile178Phe	missense variant	-	NC_000011.10:g.71441321T>A	gnomAD
RCV000674760	p.Ile178Phe	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441321T>A	ClinVar
rs1555146436	p.Pro179Leu	missense variant	-	NC_000011.10:g.71441317G>A	-
RCV000672439	p.Pro179Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441317G>A	ClinVar
rs1286409393	p.Leu181Pro	missense variant	-	NC_000011.10:g.71441311A>G	gnomAD
rs1032242817	p.Trp182Ter	stop gained	-	NC_000011.10:g.71441307C>T	TOPMed,gnomAD
rs536394774	p.Trp182Leu	missense variant	-	NC_000011.10:g.71441308C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs536394774	p.Trp182Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441308C>A	UniProt,dbSNP
VAR_023158	p.Trp182Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441308C>A	UniProt
RCV000761593	p.Trp182Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71441307C>T	ClinVar
rs536394774	p.Trp182Ter	stop gained	-	NC_000011.10:g.71441308C>T	1000Genomes,ExAC,TOPMed,gnomAD
VAR_023157	p.Trp182Cys	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
VAR_023159	p.Cys183Tyr	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
rs891223964	p.Ala184Thr	missense variant	-	NC_000011.10:g.71441303C>T	TOPMed,gnomAD
rs1177172403	p.Asn185Ser	missense variant	-	NC_000011.10:g.71441299T>C	gnomAD
rs1472308699	p.Ile186Asn	missense variant	-	NC_000011.10:g.71441296A>T	gnomAD
rs757519627	p.Ile186Met	missense variant	-	NC_000011.10:g.71441295G>C	ExAC,TOPMed,gnomAD
RCV000715346	p.Leu187Pro	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71441293A>G	ClinVar
NCI-TCGA novel	p.Leu187ProPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.71441290_71441293CCAA>-	NCI-TCGA
NCI-TCGA novel	p.Leu187Val	missense variant	-	NC_000011.10:g.71441294G>C	NCI-TCGA
rs1184941602	p.Gly188Val	missense variant	-	NC_000011.10:g.71441290C>A	gnomAD
rs752603560	p.Ala190Val	missense variant	-	NC_000011.10:g.71441284G>A	ExAC,gnomAD
rs532635888	p.Val191Ile	missense variant	-	NC_000011.10:g.71441282C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753830704	p.Ser192Pro	missense variant	-	NC_000011.10:g.71441279A>G	ExAC,TOPMed,gnomAD
rs766299724	p.Ser192Phe	missense variant	-	NC_000011.10:g.71441278G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala195Val	missense variant	-	NC_000011.10:g.71441269G>A	NCI-TCGA
rs151170252	p.Ala195Thr	missense variant	-	NC_000011.10:g.71441270C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142138656	p.Met196Thr	missense variant	-	NC_000011.10:g.71441266A>G	TOPMed,gnomAD
rs200474791	p.Met196Val	missense variant	-	NC_000011.10:g.71441267T>C	1000Genomes,ExAC,TOPMed,gnomAD
VAR_023160	p.Lys198Glu	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
COSM3870131	p.Gly199Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71441258C>T	NCI-TCGA Cosmic
rs1478289787	p.Phe201Cys	missense variant	-	NC_000011.10:g.71441251A>C	gnomAD
rs774755673	p.Phe201Leu	missense variant	-	NC_000011.10:g.71441252A>G	ExAC,gnomAD
rs377727130	p.Phe201Leu	missense variant	-	NC_000011.10:g.71441250G>T	ESP,ExAC,TOPMed,gnomAD
rs749591513	p.Pro203Ser	missense variant	-	NC_000011.10:g.71441246G>A	ExAC,gnomAD
COSM3452908	p.Pro203Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71441245G>A	NCI-TCGA Cosmic
rs542744675	p.Ala206Thr	missense variant	-	NC_000011.10:g.71441237C>T	1000Genomes,ExAC,gnomAD
rs1161545361	p.Arg207Gly	missense variant	-	NC_000011.10:g.71441234T>C	gnomAD
NCI-TCGA novel	p.Arg207Ile	missense variant	-	NC_000011.10:g.71441233C>A	NCI-TCGA
NCI-TCGA novel	p.Arg207Lys	missense variant	-	NC_000011.10:g.71441233C>T	NCI-TCGA
NCI-TCGA novel	p.Cys209Ser	missense variant	-	NC_000011.10:g.71441228A>T	NCI-TCGA
rs1236276448	p.Cys209Ser	missense variant	-	NC_000011.10:g.71441227C>G	TOPMed
rs1330568278	p.Lys210Arg	missense variant	-	NC_000011.10:g.71439081T>C	gnomAD
rs1401502860	p.Lys210Glu	missense variant	-	NC_000011.10:g.71439082T>C	TOPMed,gnomAD
rs976105626	p.Thr212Ala	missense variant	-	NC_000011.10:g.71439076T>C	TOPMed,gnomAD
rs1221743276	p.Thr212Ile	missense variant	-	NC_000011.10:g.71439075G>A	TOPMed
rs976105626	p.Thr212Pro	missense variant	-	NC_000011.10:g.71439076T>G	TOPMed,gnomAD
RCV000674047	p.Gly213Asp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439072C>T	ClinVar
rs769583377	p.Gly213Asp	missense variant	-	NC_000011.10:g.71439072C>T	TOPMed,gnomAD
rs1389034393	p.Asn214Ser	missense variant	-	NC_000011.10:g.71439069T>C	gnomAD
rs773048017	p.Phe215Leu	missense variant	-	NC_000011.10:g.71439065G>T	-
rs1366802542	p.Phe216Val	missense variant	-	NC_000011.10:g.71439064A>C	gnomAD
COSM3452904	p.Phe216Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71439062A>T	NCI-TCGA Cosmic
rs749076525	p.Tyr217Ter	stop gained	-	NC_000011.10:g.71439059G>T	ExAC,gnomAD
RCV000781323	p.Tyr217Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439059G>T	ClinVar
rs779896782	p.Tyr219Asp	missense variant	-	NC_000011.10:g.71439055A>C	ExAC,gnomAD
rs779896782	p.Tyr219His	missense variant	-	NC_000011.10:g.71439055A>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr219Ter	stop gained	-	NC_000011.10:g.71439053G>T	NCI-TCGA
RCV000668765	p.Tyr219Asp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439055A>C	ClinVar
RCV000415359	p.Tyr219His	missense variant	-	NC_000011.10:g.71439055A>G	ClinVar
rs200659923	p.Met220Leu	missense variant	-	NC_000011.10:g.71439052T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200659923	p.Met220Leu	missense variant	-	NC_000011.10:g.71439052T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs767377692	p.Met220Ile	missense variant	-	NC_000011.10:g.71439050C>A	ExAC,gnomAD
rs200659923	p.Met220Val	missense variant	-	NC_000011.10:g.71439052T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000335696	p.Met220Leu	missense variant	-	NC_000011.10:g.71439052T>G	ClinVar
RCV000597534	p.Met220Leu	missense variant	-	NC_000011.10:g.71439052T>A	ClinVar
rs756795175	p.Met221Val	missense variant	-	NC_000011.10:g.71439049T>C	ExAC,gnomAD
rs751026224	p.Gly222Asp	missense variant	-	NC_000011.10:g.71439045C>T	ExAC,gnomAD
rs373121544	p.Glu224Lys	missense variant	-	NC_000011.10:g.71439040C>T	ESP,ExAC,TOPMed,gnomAD
RCV000671914	p.Glu224Lys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439040C>T	ClinVar
RCV000596201	p.Glu224Lys	missense variant	-	NC_000011.10:g.71439040C>T	ClinVar
rs775773057	p.Arg228Trp	missense variant	-	NC_000011.10:g.71439028G>A	ExAC,TOPMed,gnomAD
rs201556114	p.Arg228Gln	missense variant	-	NC_000011.10:g.71439027C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000674773	p.Arg228Trp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439028G>A	ClinVar
rs267603172	p.Ile229Met	missense variant	-	NC_000011.10:g.71439023G>C	ExAC,TOPMed,gnomAD
rs747133004	p.Gly230Arg	missense variant	-	NC_000011.10:g.71439022C>T	ExAC,TOPMed,gnomAD
rs772491341	p.Lys231Arg	missense variant	-	NC_000011.10:g.71439018T>C	ExAC,gnomAD
rs748390752	p.Trp232Arg	missense variant	-	NC_000011.10:g.71439016A>G	ExAC,gnomAD
rs1404262569	p.Trp232Leu	missense variant	-	NC_000011.10:g.71439015C>A	gnomAD
rs1346625763	p.Phe233Leu	missense variant	-	NC_000011.10:g.71439013A>G	gnomAD
NCI-TCGA novel	p.Asp234Ala	missense variant	-	NC_000011.10:g.71439009T>G	NCI-TCGA
RCV000665754	p.Phe235Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439006A>G	ClinVar
rs1555146061	p.Phe235Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439006A>G	UniProt,dbSNP
VAR_023161	p.Phe235Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71439006A>G	UniProt
rs1555146061	p.Phe235Ser	missense variant	-	NC_000011.10:g.71439006A>G	-
rs148609143	p.Asn240Ser	missense variant	-	NC_000011.10:g.71438991T>C	ESP,ExAC,TOPMed,gnomAD
RCV000763769	p.Asn240Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438991T>C	ClinVar
RCV000717470	p.Asn240Ser	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71438991T>C	ClinVar
RCV000513933	p.Asn240Ser	missense variant	-	NC_000011.10:g.71438991T>C	ClinVar
rs80338857	p.Arg242His	missense variant	-	NC_000011.10:g.71438985C>T	ExAC,TOPMed,gnomAD
rs80338857	p.Arg242His	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438985C>T	UniProt,dbSNP
VAR_023163	p.Arg242His	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438985C>T	UniProt
RCV000020439	p.Arg242His	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438985C>T	ClinVar
rs80338856	p.Arg242Cys	missense variant	-	NC_000011.10:g.71438986G>A	ESP,ExAC,TOPMed,gnomAD
rs80338856	p.Arg242Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438986G>A	UniProt,dbSNP
VAR_023162	p.Arg242Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438986G>A	UniProt
RCV000389331	p.Arg242Cys	missense variant	-	NC_000011.10:g.71438986G>A	ClinVar
rs1329227520	p.Pro243Ser	missense variant	-	NC_000011.10:g.71438983G>A	TOPMed
RCV000674586	p.Pro243Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438982G>C	ClinVar
rs777248132	p.Pro243Arg	missense variant	-	NC_000011.10:g.71438982G>C	ExAC,gnomAD
rs121909764	p.Gly244Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438980C>T	UniProt,dbSNP
VAR_012722	p.Gly244Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438980C>T	UniProt
rs121909764	p.Gly244Arg	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71438980C>T	ExAC,TOPMed,gnomAD
RCV000007183	p.Gly244Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438980C>T	ClinVar
rs759967245	p.Val246Ile	missense variant	-	NC_000011.10:g.71438974C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala247Pro	missense variant	-	NC_000011.10:g.71438971C>G	NCI-TCGA
rs767031102	p.Ala247Thr	missense variant	-	NC_000011.10:g.71438971C>T	ExAC,TOPMed,gnomAD
COSM6070094	p.Ala247Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71438971C>A	NCI-TCGA Cosmic
RCV000670451	p.Ala247Val	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438970G>A	ClinVar
rs886044494	p.Trp248Arg	missense variant	-	NC_000011.10:g.71438968A>G	gnomAD
RCV000339772	p.Trp248Arg	missense variant	-	NC_000011.10:g.71438968A>G	ClinVar
rs104894212	p.Trp248Cys	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71438966C>A	-
rs104894212	p.Trp248Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438966C>A	UniProt,dbSNP
VAR_012724	p.Trp248Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438966C>A	UniProt
RCV000671730	p.Trp248Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438968A>G	ClinVar
RCV000007184	p.Trp248Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438966C>A	ClinVar
rs772294537	p.Leu250Val	missense variant	-	NC_000011.10:g.71438962G>C	ExAC,TOPMed,gnomAD
rs761732160	p.Ile251Val	missense variant	-	NC_000011.10:g.71438959T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile251Asn	missense variant	-	NC_000011.10:g.71438958A>T	NCI-TCGA
rs1186843944	p.Asn252Ile	missense variant	-	NC_000011.10:g.71438955T>A	TOPMed,gnomAD
rs1186843944	p.Asn252Ser	missense variant	-	NC_000011.10:g.71438955T>C	TOPMed,gnomAD
rs774666247	p.Asn252Lys	missense variant	-	NC_000011.10:g.71438954G>C	ExAC,TOPMed,gnomAD
VAR_023164	p.Phe255Leu	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
NCI-TCGA novel	p.Ala256Val	missense variant	-	NC_000011.10:g.71438943G>A	NCI-TCGA
rs772639348	p.Ala256Thr	missense variant	-	NC_000011.10:g.71438944C>T	ExAC,TOPMed,gnomAD
rs772639348	p.Ala256Ser	missense variant	-	NC_000011.10:g.71438944C>A	ExAC,TOPMed,gnomAD
RCV000674169	p.Ala257Val	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438940G>A	ClinVar
rs770925697	p.Ala257Val	missense variant	-	NC_000011.10:g.71438940G>A	ExAC,TOPMed,gnomAD
rs770925697	p.Ala257Gly	missense variant	-	NC_000011.10:g.71438940G>C	ExAC,TOPMed,gnomAD
RCV000623313	p.Ala257Val	missense variant	Inborn genetic diseases	NC_000011.10:g.71438940G>A	ClinVar
rs777617141	p.Arg260Gly	missense variant	-	NC_000011.10:g.71438932G>C	ExAC,TOPMed,gnomAD
rs551260416	p.Arg260Gln	missense variant	-	NC_000011.10:g.71438931C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777617141	p.Arg260Trp	missense variant	-	NC_000011.10:g.71438932G>A	ExAC,TOPMed,gnomAD
RCV000297920	p.Arg260Gly	missense variant	-	NC_000011.10:g.71438932G>C	ClinVar
rs752096930	p.Glu261Lys	missense variant	-	NC_000011.10:g.71438929C>T	ExAC,gnomAD
rs1406131499	p.Glu261Ala	missense variant	-	NC_000011.10:g.71438928T>G	gnomAD
rs754553051	p.Leu262Phe	missense variant	-	NC_000011.10:g.71438926G>A	ExAC,gnomAD
rs754553051	p.Leu262Val	missense variant	-	NC_000011.10:g.71438926G>C	ExAC,gnomAD
rs766838675	p.Ser264Gly	missense variant	-	NC_000011.10:g.71438920T>C	ExAC,gnomAD
rs1042442188	p.His265Arg	missense variant	-	NC_000011.10:g.71438916T>C	TOPMed
NCI-TCGA novel	p.Val266Ala	missense variant	-	NC_000011.10:g.71438913A>G	NCI-TCGA
rs761064004	p.Asn268Ser	missense variant	-	NC_000011.10:g.71438907T>C	ExAC,TOPMed,gnomAD
RCV000667454	p.Asn268Ter	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438908del	ClinVar
RCV000411261	p.Asn268Ter	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438906del	ClinVar
rs750973099	p.Asn268Lys	missense variant	-	NC_000011.10:g.71438906A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala269Val	missense variant	-	NC_000011.10:g.71438904G>A	NCI-TCGA
rs1353742919	p.Met270Thr	missense variant	-	NC_000011.10:g.71438901A>G	TOPMed,gnomAD
rs1555146021	p.Met270Val	missense variant	-	NC_000011.10:g.71438902T>C	-
RCV000672300	p.Met270Val	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71438902T>C	ClinVar
rs774275482	p.Asn274Ser	missense variant	-	NC_000011.10:g.71438889T>C	ExAC,TOPMed,gnomAD
rs774275482	p.Asn274Thr	missense variant	-	NC_000011.10:g.71438889T>G	ExAC,TOPMed,gnomAD
rs139787408	p.Asn274Lys	missense variant	-	NC_000011.10:g.71438888G>T	ESP,ExAC,TOPMed,gnomAD
rs1354657059	p.Val275Ala	missense variant	-	NC_000011.10:g.71438886A>G	gnomAD
rs775628929	p.Val275Ile	missense variant	-	NC_000011.10:g.71438887C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu276Met	missense variant	-	NC_000011.10:g.71438884G>T	NCI-TCGA
rs1383142169	p.Gln277Ter	stop gained	-	NC_000011.10:g.71438881G>A	gnomAD
rs1343520903	p.Ala278Val	missense variant	-	NC_000011.10:g.71437942G>A	gnomAD
rs752010614	p.Ile279Val	missense variant	-	NC_000011.10:g.71437940T>C	ExAC,TOPMed,gnomAD
rs148468879	p.Tyr280Ter	stop gained	-	NC_000011.10:g.71437935G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs121909766	p.Tyr280Cys	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71437936T>C	-
RCV000007192	p.Tyr280Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437936T>C	ClinVar
rs398123607	p.Val281Met	missense variant	-	NC_000011.10:g.71437934C>T	ExAC,TOPMed,gnomAD
RCV000624268	p.Val281Met	missense variant	Inborn genetic diseases	NC_000011.10:g.71437934C>T	ClinVar
rs184297154	p.Phe284Leu	missense variant	-	NC_000011.10:g.71437923G>T	1000Genomes
RCV000671381	p.Trp286Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437917C>T	ClinVar
rs1555145877	p.Trp286Ter	stop gained	-	NC_000011.10:g.71437917C>T	-
rs765481717	p.Asn287Ser	missense variant	-	NC_000011.10:g.71437915T>C	ExAC,gnomAD
rs766495775	p.Asn287Lys	missense variant	-	NC_000011.10:g.71437914G>T	ExAC,TOPMed,gnomAD
RCV000675015	p.Asn287Lys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437914G>T	ClinVar
rs565893436	p.Glu288Lys	missense variant	-	NC_000011.10:g.71437913C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000674146	p.Glu288Lys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437913C>T	ClinVar
rs121909765	p.Thr289Ile	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71437909G>A	ExAC,TOPMed,gnomAD
rs121909765	p.Thr289Ile	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437909G>A	UniProt,dbSNP
VAR_012725	p.Thr289Ile	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437909G>A	UniProt
RCV000412788	p.Thr289Ile	missense variant	-	NC_000011.10:g.71437909G>A	ClinVar
rs774187452	p.Trp290Ter	stop gained	-	NC_000011.10:g.71437905C>T	ExAC,TOPMed,gnomAD
RCV000667799	p.Trp290Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437905C>T	ClinVar
RCV000667615	p.Tyr291Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437902del	ClinVar
rs1179380860	p.Thr294Ile	missense variant	-	NC_000011.10:g.71437894G>A	gnomAD
rs904279662	p.Ile295Thr	missense variant	-	NC_000011.10:g.71437891A>G	gnomAD
rs201574502	p.Ile295Val	missense variant	-	NC_000011.10:g.71437892T>C	1000Genomes,ExAC,gnomAD
rs1085307926	p.Ile297Leu	missense variant	-	NC_000011.10:g.71437886T>G	-
RCV000489393	p.Ile297Leu	missense variant	-	NC_000011.10:g.71437886T>G	ClinVar
VAR_023166	p.Ile297Thr	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
rs769639753	p.Cys298Ter	stop gained	-	NC_000011.10:g.71437881G>T	ExAC,gnomAD
RCV000668079	p.Cys298Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437881G>T	ClinVar
rs745498103	p.His299Tyr	missense variant	-	NC_000011.10:g.71437880G>A	ExAC,gnomAD
rs1224039430	p.His299Arg	missense variant	-	NC_000011.10:g.71437879T>C	gnomAD
rs1267495194	p.His301Asn	missense variant	-	NC_000011.10:g.71437874G>T	TOPMed
RCV000730533	p.His301Arg	missense variant	-	NC_000011.10:g.71437873T>C	ClinVar
rs80338858	p.Phe302Leu	missense variant	-	NC_000011.10:g.71437869G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000020440	p.Phe302Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437869G>C	ClinVar
RCV000724095	p.Gly303Arg	missense variant	-	NC_000011.10:g.71437868C>T	ClinVar
rs142808899	p.Gly303Trp	missense variant	-	NC_000011.10:g.71437868C>A	ESP,ExAC,TOPMed,gnomAD
rs142808899	p.Gly303Arg	missense variant	-	NC_000011.10:g.71437868C>T	ESP,ExAC,TOPMed,gnomAD
rs1555145867	p.Tyr305Ter	stop gained	-	NC_000011.10:g.71437860G>C	-
RCV000672544	p.Tyr305Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437860G>C	ClinVar
rs1392920633	p.Trp308Ter	stop gained	-	NC_000011.10:g.71437851C>T	gnomAD
NCI-TCGA novel	p.Trp308Leu	missense variant	-	NC_000011.10:g.71437852C>A	NCI-TCGA
rs370955781	p.Asp310Asn	missense variant	-	NC_000011.10:g.71437847C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp310Glu	missense variant	-	NC_000011.10:g.71437845G>T	NCI-TCGA
rs1378799308	p.Cys311Arg	missense variant	-	NC_000011.10:g.71437844A>G	TOPMed
VAR_023167	p.Cys311Gly	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
VAR_023168	p.Cys311Tyr	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
RCV000669792	p.Val312Ter	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437841_71437842CA[1]	ClinVar
rs1555145862	p.Trp313Ter	stop gained	-	NC_000011.10:g.71437836C>T	-
RCV000664491	p.Trp313Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437836C>T	ClinVar
rs754992933	p.Tyr316Cys	missense variant	-	NC_000011.10:g.71437828T>C	ExAC,gnomAD
rs1457166572	p.Tyr318Phe	missense variant	-	NC_000011.10:g.71437822T>A	gnomAD
rs1177326550	p.Tyr318Asn	missense variant	-	NC_000011.10:g.71437823A>T	gnomAD
RCV000674698	p.Tyr318Ter	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437825del	ClinVar
rs766583874	p.Thr319Arg	missense variant	-	NC_000011.10:g.71437819G>C	ExAC,gnomAD
rs1362583959	p.Thr319Ala	missense variant	-	NC_000011.10:g.71437820T>C	gnomAD
RCV000674430	p.Thr319Ala	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71437820T>C	ClinVar
rs766583874	p.Thr319Lys	missense variant	-	NC_000011.10:g.71437819G>T	ExAC,gnomAD
rs766583874	p.Thr319Met	missense variant	-	NC_000011.10:g.71437819G>A	ExAC,gnomAD
RCV000780208	p.Thr319Met	missense variant	-	NC_000011.10:g.71437819G>A	ClinVar
rs1255961569	p.Gln321Leu	missense variant	-	NC_000011.10:g.71437813T>A	gnomAD
rs1173707321	p.Tyr324His	missense variant	-	NC_000011.10:g.71435833A>G	gnomAD
RCV000525900	p.Tyr324His	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435833A>G	ClinVar
rs80338859	p.Val326Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435827C>A	UniProt,dbSNP
VAR_012726	p.Val326Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435827C>A	UniProt
rs80338859	p.Val326Leu	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435827C>A	ExAC,TOPMed,gnomAD
rs1333822866	p.Val326Ala	missense variant	-	NC_000011.10:g.71435826A>G	TOPMed
RCV000007187	p.Val326Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435827C>A	ClinVar
rs1057516375	p.Tyr327Ter	stop gained	-	NC_000011.10:g.71435822G>T	-
RCV000411396	p.Tyr327Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435822G>T	ClinVar
rs775805851	p.His328Asp	missense variant	-	NC_000011.10:g.71435821G>C	ExAC,gnomAD
rs1157736816	p.His328Gln	missense variant	-	NC_000011.10:g.71435819G>T	gnomAD
rs1468426794	p.Pro329Ser	missense variant	-	NC_000011.10:g.71435818G>A	gnomAD
COSM3452900	p.Pro329Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71435817G>A	NCI-TCGA Cosmic
rs139724817	p.Val330Met	missense variant	-	NC_000011.10:g.71435815C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139724817	p.Val330Leu	missense variant	-	NC_000011.10:g.71435815C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000763768	p.Val330Met	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435815C>T	ClinVar
RCV000727172	p.Val330Met	missense variant	-	NC_000011.10:g.71435815C>T	ClinVar
rs1057516610	p.Gln331Glu	missense variant	-	NC_000011.10:g.71435812G>C	gnomAD
rs1057516610	p.Gln331Ter	stop gained	-	NC_000011.10:g.71435812G>A	gnomAD
RCV000409015	p.Gln331Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435812G>A	ClinVar
RCV000411723	p.Leu332Ter	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435808del	ClinVar
rs757518371	p.Thr334Ala	missense variant	-	NC_000011.10:g.71435803T>C	ExAC,gnomAD
rs748020179	p.Thr334Asn	missense variant	-	NC_000011.10:g.71435802G>T	ExAC,gnomAD
rs748020179	p.Thr334Ile	missense variant	-	NC_000011.10:g.71435802G>A	ExAC,gnomAD
rs77762671	p.Pro335Arg	missense variant	-	NC_000011.10:g.71435799G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000669414	p.Pro335Ter	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435802del	ClinVar
rs77762671	p.Pro335Leu	missense variant	-	NC_000011.10:g.71435799G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs75225632	p.His336Gln	missense variant	-	NC_000011.10:g.71435795G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749913821	p.Ala337Thr	missense variant	-	NC_000011.10:g.71435794C>T	ExAC,gnomAD
rs72954276	p.Val338Met	missense variant	-	NC_000011.10:g.71435791C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000717914	p.Val338Met	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435791C>T	ClinVar
RCV000551112	p.Val340Ile	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435785C>T	ClinVar
rs148081697	p.Val340Ile	missense variant	-	NC_000011.10:g.71435785C>T	ESP,ExAC,TOPMed,gnomAD
rs1317526744	p.Leu341Pro	missense variant	-	NC_000011.10:g.71435781A>G	gnomAD
RCV000666425	p.Leu341Pro	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435781A>G	ClinVar
rs199957106	p.Leu342Pro	missense variant	-	NC_000011.10:g.71435778A>G	1000Genomes
RCV000670470	p.Leu342Pro	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435778A>G	ClinVar
rs1409887214	p.Gly344Asp	missense variant	-	NC_000011.10:g.71435772C>T	gnomAD
VAR_023170	p.Gly344Arg	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
rs916217045	p.Val346Glu	missense variant	-	NC_000011.10:g.71435766A>T	TOPMed
rs770174208	p.Gly347Val	missense variant	-	NC_000011.10:g.71435763C>A	ExAC,gnomAD
rs1394025873	p.Tyr348Cys	missense variant	-	NC_000011.10:g.71435760T>C	TOPMed
NCI-TCGA novel	p.Ile350Val	missense variant	-	NC_000011.10:g.71435755T>C	NCI-TCGA
NCI-TCGA novel	p.Phe351Leu	missense variant	-	NC_000011.10:g.71435750G>C	NCI-TCGA
rs121909768	p.Arg352Leu	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435748C>A	1000Genomes,ExAC,gnomAD
rs121909768	p.Arg352Gln	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435748C>T	1000Genomes,ExAC,gnomAD
rs121909768	p.Arg352Gln	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748C>T	UniProt,dbSNP
VAR_023171	p.Arg352Gln	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748C>T	UniProt
rs80338860	p.Arg352Trp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435749G>A	UniProt,dbSNP
VAR_012727	p.Arg352Trp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435749G>A	UniProt
rs80338860	p.Arg352Trp	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435749G>A	ExAC,TOPMed,gnomAD
RCV000254828	p.Arg352Gln	missense variant	-	NC_000011.10:g.71435748C>T	ClinVar
RCV000007197	p.Arg352Gln	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748C>T	ClinVar
RCV000007189	p.Arg352Trp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435749G>A	ClinVar
RCV000259783	p.Arg352Trp	missense variant	-	NC_000011.10:g.71435749G>A	ClinVar
rs1449289649	p.Val353Met	missense variant	-	NC_000011.10:g.71435746C>T	gnomAD
RCV000666554	p.Val353Ter	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435748del	ClinVar
VAR_023172	p.Val353Ala	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
rs571923299	p.Ala354Thr	missense variant	-	NC_000011.10:g.71435743C>T	1000Genomes,gnomAD
rs1309736876	p.Asn355Asp	missense variant	-	NC_000011.10:g.71435740T>C	TOPMed
RCV000409736	p.His356Ter	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435738del	ClinVar
rs768526200	p.Gln357His	missense variant	-	NC_000011.10:g.71435732C>A	ExAC,gnomAD
rs1243340265	p.Lys358Thr	missense variant	-	NC_000011.10:g.71435730T>G	TOPMed
rs1555145619	p.Leu360Pro	missense variant	-	NC_000011.10:g.71435724A>G	-
RCV000668758	p.Leu360Pro	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435724A>G	ClinVar
COSM3398110	p.Leu360Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71435724A>T	NCI-TCGA Cosmic
rs780088227	p.Phe361Leu	missense variant	-	NC_000011.10:g.71435720G>T	ExAC,TOPMed,gnomAD
RCV000292578	p.Phe361Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435720G>T	ClinVar
RCV000410733	p.Phe361Ter	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435723_71435724del	ClinVar
rs142213147	p.Arg362His	missense variant	-	NC_000011.10:g.71435718C>T	ESP,ExAC,TOPMed,gnomAD
rs371302153	p.Arg362Ser	missense variant	-	NC_000011.10:g.71435719G>T	ESP,ExAC,TOPMed,gnomAD
rs371302153	p.Arg362Cys	missense variant	-	NC_000011.10:g.71435719G>A	ESP,ExAC,TOPMed,gnomAD
rs142213147	p.Arg362Leu	missense variant	-	NC_000011.10:g.71435718C>A	ESP,ExAC,TOPMed,gnomAD
rs547012639	p.Arg363Cys	missense variant	-	NC_000011.10:g.71435716G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200539324	p.Arg363His	missense variant	-	NC_000011.10:g.71435715C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200539324	p.Arg363Leu	missense variant	-	NC_000011.10:g.71435715C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1085307925	p.Thr364Ala	missense variant	-	NC_000011.10:g.71435713T>C	-
rs567600444	p.Thr364Met	missense variant	-	NC_000011.10:g.71435712G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000731830	p.Thr364Met	missense variant	-	NC_000011.10:g.71435712G>A	ClinVar
RCV000386515	p.Thr364Met	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435712G>A	ClinVar
RCV000717252	p.Thr364Met	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435712G>A	ClinVar
RCV000503164	p.Thr364Met	missense variant	-	NC_000011.10:g.71435712G>A	ClinVar
RCV000489040	p.Thr364Ala	missense variant	-	NC_000011.10:g.71435713T>C	ClinVar
NCI-TCGA novel	p.Asp365Asn	missense variant	-	NC_000011.10:g.71435710C>T	NCI-TCGA
RCV000666844	p.Gly366Val	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435706C>A	ClinVar
rs1555145614	p.Gly366Val	missense variant	-	NC_000011.10:g.71435706C>A	-
rs765908713	p.Arg367His	missense variant	-	NC_000011.10:g.71435703C>T	ExAC,TOPMed,gnomAD
rs531038145	p.Arg367Cys	missense variant	-	NC_000011.10:g.71435704G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000259933	p.Arg367Cys	missense variant	-	NC_000011.10:g.71435704G>A	ClinVar
RCV000719857	p.Arg367Cys	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435704G>A	ClinVar
rs1489954663	p.Ile370Leu	missense variant	-	NC_000011.10:g.71435695T>G	gnomAD
rs1371215955	p.Ile370Thr	missense variant	-	NC_000011.10:g.71435694A>G	TOPMed
rs1467146122	p.Trp371Arg	missense variant	-	NC_000011.10:g.71435692A>G	TOPMed
rs1294449428	p.Trp371Ter	stop gained	-	NC_000011.10:g.71435690C>T	gnomAD
rs760104729	p.Gly372Cys	missense variant	-	NC_000011.10:g.71435689C>A	ExAC,TOPMed,gnomAD
rs760104729	p.Gly372Arg	missense variant	-	NC_000011.10:g.71435689C>G	ExAC,TOPMed,gnomAD
rs760104729	p.Gly372Ser	missense variant	-	NC_000011.10:g.71435689C>T	ExAC,TOPMed,gnomAD
rs1322012743	p.Arg373Gly	missense variant	-	NC_000011.10:g.71435686T>C	gnomAD
rs771137757	p.Lys376Arg	missense variant	-	NC_000011.10:g.71435676T>C	ExAC,TOPMed,gnomAD
rs777218262	p.Lys376Glu	missense variant	-	NC_000011.10:g.71435677T>C	ExAC,gnomAD
rs773505265	p.Ile378Met	missense variant	-	NC_000011.10:g.71435669G>C	ExAC,TOPMed,gnomAD
rs1278791188	p.Ile378Val	missense variant	-	NC_000011.10:g.71435671T>C	gnomAD
rs772162793	p.Glu379Lys	missense variant	-	NC_000011.10:g.71435668C>T	ExAC,gnomAD
rs779709646	p.Cys380Tyr	missense variant	-	NC_000011.10:g.71435664C>T	ExAC,TOPMed,gnomAD
rs779709646	p.Cys380Phe	missense variant	-	NC_000011.10:g.71435664C>A	ExAC,TOPMed,gnomAD
rs373306653	p.Cys380Arg	missense variant	-	NC_000011.10:g.71435665A>G	ESP,ExAC,TOPMed,gnomAD
rs373306653	p.Cys380Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435665A>G	UniProt,dbSNP
VAR_023174	p.Cys380Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435665A>G	UniProt
rs769783115	p.Cys380Ter	stop gained	-	NC_000011.10:g.71435663G>T	ExAC,gnomAD
RCV000408382	p.Cys380Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435665A>G	ClinVar
RCV000725474	p.Cys380Arg	missense variant	-	NC_000011.10:g.71435665A>G	ClinVar
RCV000169472	p.Cys380Tyr	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435664C>T	ClinVar
VAR_012728	p.Cys380Ser	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
NCI-TCGA novel	p.Ser381Cys	missense variant	-	NC_000011.10:g.71435661G>C	NCI-TCGA
RCV000667423	p.Tyr382Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435657G>T	ClinVar
rs1555145605	p.Tyr382Ter	stop gained	-	NC_000011.10:g.71435657G>T	-
rs745820609	p.Thr383Ile	missense variant	-	NC_000011.10:g.71435655G>A	ExAC,TOPMed,gnomAD
rs781043327	p.Ser384Cys	missense variant	-	NC_000011.10:g.71435652G>C	ExAC,gnomAD
rs750989470	p.Ala385Thr	missense variant	-	NC_000011.10:g.71435650C>T	ExAC,TOPMed,gnomAD
rs12577137	p.Ala385Gly	missense variant	-	NC_000011.10:g.71435649G>C	gnomAD
rs12577137	p.Ala385Val	missense variant	-	NC_000011.10:g.71435649G>A	gnomAD
rs369837196	p.Asp386Asn	missense variant	-	NC_000011.10:g.71435647C>T	ESP,ExAC,TOPMed,gnomAD
rs760241	p.Asp386Glu	missense variant	-	NC_000011.10:g.71435645A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765707139	p.Gly387Arg	missense variant	-	NC_000011.10:g.71435644C>G	ExAC,TOPMed,gnomAD
rs765707139	p.Gly387Arg	missense variant	-	NC_000011.10:g.71435644C>T	ExAC,TOPMed,gnomAD
rs755325060	p.Arg389Lys	missense variant	-	NC_000011.10:g.71435637C>T	ExAC,TOPMed
rs766943022	p.His390Arg	missense variant	-	NC_000011.10:g.71435634T>C	ExAC,gnomAD
rs544442568	p.His390Tyr	missense variant	-	NC_000011.10:g.71435635G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1284886726	p.His391Leu	missense variant	-	NC_000011.10:g.71435631T>A	gnomAD
rs760857590	p.Val396Glu	missense variant	-	NC_000011.10:g.71435616A>T	ExAC,gnomAD
rs1011956734	p.Val396Met	missense variant	-	NC_000011.10:g.71435617C>T	TOPMed
rs773134475	p.Ser397Leu	missense variant	-	NC_000011.10:g.71435613G>A	ExAC,TOPMed,gnomAD
rs1205529414	p.Phe399Tyr	missense variant	-	NC_000011.10:g.71435607A>T	TOPMed,gnomAD
rs1057516493	p.Trp400Leu	missense variant	-	NC_000011.10:g.71435604C>A	TOPMed
rs1057516493	p.Trp400Ter	stop gained	-	NC_000011.10:g.71435604C>T	TOPMed
RCV000411064	p.Trp400Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435604C>T	ClinVar
rs1401116131	p.Gly401Ser	missense variant	-	NC_000011.10:g.71435602C>T	TOPMed,gnomAD
rs200099137	p.Val402Leu	missense variant	-	NC_000011.10:g.71435599C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val402Leu	missense variant	-	NC_000011.10:g.71435599C>A	NCI-TCGA
rs200099137	p.Val402Met	missense variant	-	NC_000011.10:g.71435599C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs969937612	p.Ala403Pro	missense variant	-	NC_000011.10:g.71435596C>G	TOPMed
rs969937612	p.Ala403Thr	missense variant	-	NC_000011.10:g.71435596C>T	TOPMed
rs61757582	p.Arg404Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>T	UniProt,dbSNP
VAR_023177	p.Arg404Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>T	UniProt
rs61757582	p.Arg404Gly	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435593G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs61757582	p.Arg404Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>A	UniProt,dbSNP
VAR_012729	p.Arg404Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>A	UniProt
RCV000668128	p.Arg404Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>T	ClinVar
rs61757582	p.Arg404Ser	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435593G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs61757582	p.Arg404Cys	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435593G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000674716	p.Arg404Gly	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>C	ClinVar
RCV000723830	p.Arg404Cys	missense variant	-	NC_000011.10:g.71435593G>A	ClinVar
RCV000007190	p.Arg404Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435593G>A	ClinVar
rs776577137	p.His405Gln	missense variant	-	NC_000011.10:g.71435588G>C	ExAC,gnomAD
VAR_023178	p.His405Tyr	Missense	Smith-Lemli-Opitz syndrome (SLOS) [MIM:270400]	-	UniProt
rs1481450955	p.Asn407Lys	missense variant	-	NC_000011.10:g.71435582G>T	gnomAD
rs770819693	p.Asn407Tyr	missense variant	-	NC_000011.10:g.71435584T>A	ExAC,gnomAD
rs746591926	p.Asn407Ser	missense variant	-	NC_000011.10:g.71435583T>C	ExAC,TOPMed,gnomAD
rs1046560765	p.Tyr408His	missense variant	-	NC_000011.10:g.71435581A>G	TOPMed,gnomAD
rs1219026826	p.Tyr408Cys	missense variant	-	NC_000011.10:g.71435580T>C	gnomAD
RCV000667912	p.Tyr408His	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435581A>G	ClinVar
rs757861528	p.Val409Ile	missense variant	-	NC_000011.10:g.71435578C>T	ExAC,TOPMed,gnomAD
RCV000597434	p.Val409Ile	missense variant	-	NC_000011.10:g.71435578C>T	ClinVar
rs80338862	p.Gly410Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>T	UniProt,dbSNP
VAR_012730	p.Gly410Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>T	UniProt
rs80338862	p.Gly410Ser	missense variant	-	NC_000011.10:g.71435575C>T	ExAC,TOPMed,gnomAD
rs80338862	p.Gly410Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>G	UniProt,dbSNP
VAR_023180	p.Gly410Arg	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>G	UniProt
rs80338862	p.Gly410Arg	missense variant	-	NC_000011.10:g.71435575C>G	ExAC,TOPMed,gnomAD
RCV000720023	p.Gly410Ser	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435575C>T	ClinVar
RCV000079640	p.Gly410Ser	missense variant	-	NC_000011.10:g.71435575C>T	ClinVar
RCV000020434	p.Gly410Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435575C>T	ClinVar
rs372055524	p.Asp411Asn	missense variant	-	NC_000011.10:g.71435572C>T	ESP,ExAC,TOPMed,gnomAD
RCV000666753	p.Asp411Asn	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435572C>T	ClinVar
rs755426995	p.Gly414Arg	missense variant	-	NC_000011.10:g.71435563C>G	ExAC,gnomAD
rs754224400	p.Ser415Gly	missense variant	-	NC_000011.10:g.71435560T>C	ExAC,gnomAD
rs894897580	p.Ala417Val	missense variant	-	NC_000011.10:g.71435553G>A	TOPMed,gnomAD
rs1053502314	p.Tyr418Cys	missense variant	-	NC_000011.10:g.71435550T>C	TOPMed
rs750582708	p.Cys422Arg	missense variant	-	NC_000011.10:g.71435539A>G	ExAC,gnomAD
rs902179640	p.Gly423Ser	missense variant	-	NC_000011.10:g.71435536C>T	TOPMed,gnomAD
RCV000485125	p.Gly423Ser	missense variant	-	NC_000011.10:g.71435536C>T	ClinVar
rs368150818	p.Gly424Ser	missense variant	-	NC_000011.10:g.71435533C>T	ESP,ExAC,TOPMed,gnomAD
rs368150818	p.Gly424Cys	missense variant	-	NC_000011.10:g.71435533C>A	ESP,ExAC,TOPMed,gnomAD
RCV000513082	p.Gly424Ser	missense variant	-	NC_000011.10:g.71435533C>T	ClinVar
rs1182384703	p.Gly425Asp	missense variant	-	NC_000011.10:g.71435529C>T	gnomAD
rs760242	p.Gly425Ser	missense variant	-	NC_000011.10:g.71435530C>T	UniProt,dbSNP
VAR_052154	p.Gly425Ser	missense variant	-	NC_000011.10:g.71435530C>T	UniProt
rs760242	p.Gly425Ser	missense variant	-	NC_000011.10:g.71435530C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly425Cys	missense variant	-	NC_000011.10:g.71435530C>A	NCI-TCGA
RCV000595632	p.Gly425Ser	missense variant	-	NC_000011.10:g.71435530C>T	ClinVar
RCV000316974	p.Gly425Ser	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435530C>T	ClinVar
rs1354718634	p.His426Pro	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435526T>G	UniProt,dbSNP
VAR_023181	p.His426Pro	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435526T>G	UniProt
rs1354718634	p.His426Pro	missense variant	-	NC_000011.10:g.71435526T>G	TOPMed
rs770971876	p.His426Gln	missense variant	-	NC_000011.10:g.71435525G>T	ExAC
rs776401706	p.His426Tyr	missense variant	-	NC_000011.10:g.71435527G>A	ExAC,gnomAD
RCV000669736	p.His426Pro	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435526T>G	ClinVar
NCI-TCGA novel	p.Leu427Met	missense variant	-	NC_000011.10:g.71435524G>T	NCI-TCGA
rs1221791403	p.Leu428Val	missense variant	-	NC_000011.10:g.71435521G>C	TOPMed
rs1449741699	p.Pro429Leu	missense variant	-	NC_000011.10:g.71435517G>A	TOPMed
NCI-TCGA novel	p.Pro429Ser	missense variant	-	NC_000011.10:g.71435518G>A	NCI-TCGA
rs1449741699	p.Pro429Arg	missense variant	-	NC_000011.10:g.71435517G>C	TOPMed
rs140791666	p.Tyr430Ter	stop gained	-	NC_000011.10:g.71435513G>C	ESP,ExAC,gnomAD
rs1485535452	p.Tyr430Phe	missense variant	-	NC_000011.10:g.71435514T>A	gnomAD
rs1217685553	p.Phe431Leu	missense variant	-	NC_000011.10:g.71435512A>G	gnomAD
COSM4036382	p.Phe431Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71435510G>C	NCI-TCGA Cosmic
rs747656720	p.Tyr432His	missense variant	-	NC_000011.10:g.71435509A>G	ExAC,gnomAD
rs1244124212	p.Ile433Val	missense variant	-	NC_000011.10:g.71435506T>C	gnomAD
rs375187933	p.Ile434Val	missense variant	-	NC_000011.10:g.71435503T>C	ESP,TOPMed,gnomAD
rs1313621076	p.Met436Val	missense variant	-	NC_000011.10:g.71435497T>C	gnomAD
rs1382147285	p.Ala437Thr	missense variant	-	NC_000011.10:g.71435494C>T	TOPMed,gnomAD
rs778750039	p.Ile438Met	missense variant	-	NC_000011.10:g.71435489G>C	ExAC,gnomAD
rs1381722107	p.Leu440Val	missense variant	-	NC_000011.10:g.71435485G>C	TOPMed
NCI-TCGA novel	p.Leu440Pro	missense variant	-	NC_000011.10:g.71435484A>G	NCI-TCGA
rs749728888	p.Thr441Ser	missense variant	-	NC_000011.10:g.71435482T>A	ExAC,gnomAD
rs1439949765	p.Thr441Ile	missense variant	-	NC_000011.10:g.71435481G>A	TOPMed
rs781687341	p.Arg443Leu	missense variant	-	NC_000011.10:g.71435475C>A	ExAC,TOPMed,gnomAD
RCV000673491	p.Arg443Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435476G>A	ClinVar
rs535561852	p.Arg443Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435476G>A	UniProt,dbSNP
VAR_023182	p.Arg443Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435476G>A	UniProt
rs535561852	p.Arg443Cys	missense variant	-	NC_000011.10:g.71435476G>A	ExAC,TOPMed,gnomAD
rs781687341	p.Arg443Pro	missense variant	-	NC_000011.10:g.71435475C>G	ExAC,TOPMed,gnomAD
rs781687341	p.Arg443His	missense variant	-	NC_000011.10:g.71435475C>T	ExAC,TOPMed,gnomAD
RCV000449623	p.Arg443His	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435475C>T	ClinVar
rs1369678480	p.Leu445Phe	missense variant	-	NC_000011.10:g.71435470G>A	gnomAD
rs1369678480	p.Leu445Val	missense variant	-	NC_000011.10:g.71435470G>C	gnomAD
rs145043679	p.Arg446Trp	missense variant	-	NC_000011.10:g.71435467G>A	ESP,ExAC,TOPMed,gnomAD
RCV000666265	p.Arg446Trp	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435467G>A	ClinVar
rs751604696	p.Arg446Gln	missense variant	-	NC_000011.10:g.71435466C>T	ExAC,TOPMed
rs751604696	p.Arg446Gln	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435466C>T	UniProt,dbSNP
VAR_023183	p.Arg446Gln	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435466C>T	UniProt
RCV000716262	p.Arg446Gln	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435466C>T	ClinVar
rs1427783663	p.Asp447His	missense variant	-	NC_000011.10:g.71435464C>G	gnomAD
rs1427783663	p.Asp447Asn	missense variant	-	NC_000011.10:g.71435464C>T	gnomAD
rs139721775	p.Asp447Glu	missense variant	-	NC_000011.10:g.71435462G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs80338864	p.Glu448Gln	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>G	UniProt,dbSNP
VAR_023184	p.Glu448Gln	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>G	UniProt
rs80338864	p.Glu448Gln	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435461C>G	ExAC,TOPMed,gnomAD
RCV000020435	p.Glu448Lys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>T	ClinVar
rs80338864	p.Glu448Lys	missense variant	Smith-lemli-opitz syndrome (slos)	NC_000011.10:g.71435461C>T	ExAC,TOPMed,gnomAD
rs80338864	p.Glu448Lys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>T	UniProt,dbSNP
VAR_016975	p.Glu448Lys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>T	UniProt
RCV000670693	p.Glu448Gln	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435461C>G	ClinVar
rs758040709	p.His449Tyr	missense variant	-	NC_000011.10:g.71435458G>A	ExAC,gnomAD
rs542266962	p.Arg450Leu	missense variant	-	NC_000011.10:g.71435454C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs542266962	p.Arg450Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435454C>A	UniProt,dbSNP
VAR_023185	p.Arg450Leu	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435454C>A	UniProt
rs542266962	p.Arg450His	missense variant	-	NC_000011.10:g.71435454C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000718621	p.Arg450His	missense variant	History of neurodevelopmental disorder	NC_000011.10:g.71435454C>T	ClinVar
rs765154144	p.Arg450Cys	missense variant	-	NC_000011.10:g.71435455G>A	ExAC,gnomAD
RCV000725059	p.Arg450Ter	frameshift	-	NC_000011.10:g.71435456del	ClinVar
RCV000316051	p.Arg450Ter	frameshift	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435456del	ClinVar
RCV000674850	p.Arg450His	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435454C>T	ClinVar
rs761458977	p.Cys451Arg	missense variant	-	NC_000011.10:g.71435452A>G	ExAC,gnomAD
rs1325144749	p.Cys451Tyr	missense variant	-	NC_000011.10:g.71435451C>T	gnomAD
rs140400648	p.Ala452Thr	missense variant	-	NC_000011.10:g.71435449C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs768489010	p.Ser453Thr	missense variant	-	NC_000011.10:g.71435445C>G	ExAC,gnomAD
rs201847193	p.Gly456Ser	missense variant	-	NC_000011.10:g.71435437C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs746201510	p.Gly456Val	missense variant	-	NC_000011.10:g.71435436C>A	ExAC,gnomAD
rs886043122	p.Arg457Gln	missense variant	-	NC_000011.10:g.71435433C>T	TOPMed,gnomAD
rs371873032	p.Arg457Trp	missense variant	-	NC_000011.10:g.71435434G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000324086	p.Arg457Gln	missense variant	-	NC_000011.10:g.71435433C>T	ClinVar
RCV000763767	p.Arg457Gln	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435433C>T	ClinVar
rs1473523418	p.Asp458Tyr	missense variant	-	NC_000011.10:g.71435431C>A	TOPMed
rs1555145550	p.Trp459Ter	stop gained	-	NC_000011.10:g.71435427C>T	-
RCV000674614	p.Trp459Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435427C>T	ClinVar
rs777838196	p.Glu460Gly	missense variant	-	NC_000011.10:g.71435424T>C	ExAC,gnomAD
rs199506852	p.Arg461Cys	missense variant	-	NC_000011.10:g.71435422G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1197033218	p.Arg461His	missense variant	-	NC_000011.10:g.71435421C>T	TOPMed,gnomAD
RCV000501047	p.Arg461Cys	missense variant	-	NC_000011.10:g.71435422G>A	ClinVar
RCV000356607	p.Arg461Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435422G>A	ClinVar
RCV000731766	p.Arg461Cys	missense variant	-	NC_000011.10:g.71435422G>A	ClinVar
rs201270451	p.Tyr462His	missense variant	-	NC_000011.10:g.71435419A>G	-
rs1453500228	p.Tyr462Ter	stop gained	-	NC_000011.10:g.71435417G>T	gnomAD
COSM2044459	p.Tyr462Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71435418T>C	NCI-TCGA Cosmic
RCV000671232	p.Tyr462Ter	nonsense	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435417G>T	ClinVar
RCV000411557	p.Tyr462His	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435419A>G	ClinVar
rs566784842	p.Ala464Thr	missense variant	-	NC_000011.10:g.71435413C>T	TOPMed,gnomAD
rs1253213550	p.Ala465Pro	missense variant	-	NC_000011.10:g.71435410C>G	TOPMed,gnomAD
rs1219768413	p.Ala465Val	missense variant	-	NC_000011.10:g.71435409G>A	gnomAD
rs1253213550	p.Ala465Thr	missense variant	-	NC_000011.10:g.71435410C>T	TOPMed,gnomAD
COSM690097	p.Ala465Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.71435410C>A	NCI-TCGA Cosmic
rs760428437	p.Val466Met	missense variant	-	NC_000011.10:g.71435407C>T	ExAC,TOPMed,gnomAD
RCV000255209	p.Val466Met	missense variant	-	NC_000011.10:g.71435407C>T	ClinVar
rs750211727	p.Pro467Thr	missense variant	-	NC_000011.10:g.71435404G>T	ExAC,gnomAD
rs1245549808	p.Tyr468His	missense variant	-	NC_000011.10:g.71435401A>G	TOPMed
rs201150384	p.Arg469Pro	missense variant	-	NC_000011.10:g.71435397C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs148660993	p.Arg469Cys	missense variant	-	NC_000011.10:g.71435398G>A	ESP,ExAC,TOPMed,gnomAD
rs201150384	p.Arg469His	missense variant	-	NC_000011.10:g.71435397C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000665167	p.Arg469Cys	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435398G>A	ClinVar
RCV000670231	p.Arg469Pro	missense variant	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435397C>G	ClinVar
RCV000519844	p.Arg469Pro	missense variant	-	NC_000011.10:g.71435397C>G	ClinVar
rs1331331095	p.Leu470Arg	missense variant	-	NC_000011.10:g.71435394A>C	gnomAD
rs1331331095	p.Leu470Gln	missense variant	-	NC_000011.10:g.71435394A>T	gnomAD
RCV000622787	p.Leu470Gln	missense variant	Inborn genetic diseases	NC_000011.10:g.71435394A>T	ClinVar
rs766709599	p.Leu471Pro	missense variant	-	NC_000011.10:g.71435391A>G	ExAC,gnomAD
rs1428527242	p.Gly473Arg	missense variant	-	NC_000011.10:g.71435386C>T	gnomAD
rs1173923264	p.Ile474Val	missense variant	-	NC_000011.10:g.71435383T>C	gnomAD
rs1378025166	p.Phe475Leu	missense variant	-	NC_000011.10:g.71435378G>C	gnomAD
rs1478872904	p.Phe475Ser	missense variant	-	NC_000011.10:g.71435379A>G	gnomAD
rs775034584	p.Ter476Lys	stop lost	-	NC_000011.10:g.71435377A>T	ExAC,gnomAD
rs775034584	p.Ter476Gln	stop lost	-	NC_000011.10:g.71435377A>G	ExAC,gnomAD
RCV000169316	p.Ter476Gln	stop lost	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435377A>G	ClinVar
RCV000674641	p.Ter476Lys	stop lost	Smith-Lemli-Opitz syndrome (SLOS)	NC_000011.10:g.71435377A>T	ClinVar

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001807	Aggressive behavior	phenotype	HPO
C0003492	Aortic coarctation	disease	HPO
C0003850	Arteriosclerosis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0004352	Autistic Disorder	group	CTD_human;HPO
C0004943	Behcet Syndrome	disease	BEFREE
C0005745	Blepharoptosis	disease	HPO
C0005944	Metabolic Bone Disorder	group	CTD_human
C0006157	Breech Presentation	phenotype	HPO
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0008073	Developmental Disabilities	group	BEFREE
C0008370	Cholestasis	disease	GENOMICS_ENGLAND
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009806	Constipation	phenotype	HPO
C0010417	Cryptorchidism	disease	HPO
C0010964	Dandy-Walker Syndrome	disease	HPO
C0011053	Deafness	phenotype	HPO
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013274	Patent ductus arteriosus	disease	HPO
C0013595	Eczema	disease	HPO
C0014116	Endocardial Cushion Defects	group	HPO
C0014544	Epilepsy	disease	HPO
C0015544	Failure to Thrive	disease	BEFREE
C0015934	Fetal Growth Retardation	phenotype	HPO
C0017168	Gastroesophageal reflux disease	disease	HPO
C0017566	Gingival Hyperplasia	phenotype	HPO
C0017567	Gingival Hypertrophy	disease	HPO
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018817	Atrial Septal Defects	group	HPO
C0018818	Ventricular Septal Defects	group	HPO
C0018834	Heartburn	phenotype	HPO
C0019554	Hip Dislocation	phenotype	HPO
C0019569	Hirschsprung Disease	disease	HPO
C0020224	Polyhydramnios	phenotype	HPO
C0020255	Hydrocephalus	disease	HPO
C0020295	Hydronephrosis	disease	HPO
C0020305	Hydrops Fetalis	disease	GENOMICS_ENGLAND
C0020534	Orbital separation excessive	phenotype	HPO
C0020557	Hypertriglyceridemia	phenotype	BEFREE
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0022679	Cystic kidney	disease	HPO
C0023890	Liver Cirrhosis	disease	CTD_human
C0024433	Macrostomia	disease	HPO
C0025160	Megacolon	phenotype	HPO
C0025362	Mental Retardation	disease	BEFREE;HPO
C0025521	Inborn Errors of Metabolism	group	BEFREE
C0025958	Microcephaly	disease	BEFREE
C0025988	Microglossia	disease	HPO
C0025990	Micrognathism	disease	HPO
C0025995	Micromelia	disease	HPO
C0026697	Mucolipidoses	disease	BEFREE
C0026826	Muscle Hypertonia	phenotype	HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0028738	Nystagmus	disease	HPO
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0029453	Osteopenia	disease	CTD_human
C0032460	Polycystic Ovary Syndrome	disease	BEFREE
C0034013	Precocious Puberty	disease	HPO
C0034194	Pyloric Stenosis	phenotype	HPO
C0036572	Seizures	phenotype	HPO
C0036601	Self Mutilation	phenotype	HPO
C0036875	Disorders of Sex Development	group	GENOMICS_ENGLAND
C0038379	Strabismus	disease	HPO
C0040427	Tooth Abnormalities	group	HPO
C0040433	Tooth Crowding	phenotype	HPO
C0040583	Tracheal Stenosis	disease	HPO
C0042133	Uterine Fibroids	group	BEFREE
C0042870	Vitamin D Deficiency	disease	BEFREE
C0042963	Vomiting	phenotype	HPO
C0079541	Holoprosencephaly	disease	BEFREE;HPO
C0085271	Self-Injurious Behavior	phenotype	HPO
C0086543	Cataract	disease	GENOMICS_ENGLAND;HPO
C0151526	Premature Birth	phenotype	HPO
C0151718	Hypocholesterolemia	disease	HPO
C0152237	Talipes Calcaneovalgus	disease	HPO
C0156394	Hypertrophy of clitoris	disease	HPO
C0175694	Smith-Lemli-Opitz Syndrome	disease	BEFREE;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET;UNIPROT
C0202117	Low density lipoprotein cholesterol measurement	phenotype	GWASDB
C0202236	Triglycerides measurement	phenotype	GWASDB
C0206762	Limb Deformities, Congenital	group	BEFREE
C0221210	Congenital malrotation of intestine	disease	HPO
C0231246	Failure to gain weight	phenotype	HPO
C0231791	Toeing-in	phenotype	HPO
C0235659	Reduced fetal movement	phenotype	HPO
C0237326	Dyschezia	phenotype	HPO
C0237967	pediatric AIDS	disease	BEFREE
C0239234	Low set ears	phenotype	HPO
C0239946	Fibrosis, Liver	disease	BEFREE;CTD_human
C0239998	Recurrent infections	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0263401	Cutis marmorata	disease	HPO
C0265783	Congenital hypoplasia of lung	disease	HPO
C0266295	Congenital hypoplasia of kidney	disease	HPO
C0266362	Ambiguous Genitalia	disease	HPO
C0266387	Bicornuate uterus	disease	HPO
C0266411	Septate vagina	disease	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0282643	Smith-Lemli-Opitz Syndrome, Type I	disease	CTD_human
C0282644	Smith-Lemli-Opitz Syndrome, Type II	disease	CTD_human
C0339789	Congenital deafness	disease	HPO
C0341787	Bifid scrotum	disease	HPO
C0344482	Hypoplasia of corpus callosum	disease	HPO
C0349506	Photosensitivity of skin	phenotype	HPO
C0349588	Short stature	phenotype	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376480	Gingival Overgrowth	phenotype	HPO
C0376634	Craniofacial Abnormalities	group	BEFREE
C0392885	High density lipoprotein measurement	phenotype	GWASDB
C0423903	Low intelligence	phenotype	HPO
C0424295	Hyperactive behavior	phenotype	BEFREE;HPO
C0424323	Physical aggression	phenotype	HPO
C0424366	Self-harm	disease	HPO
C0424688	Small head	phenotype	HPO
C0431350	Primary microcephaly	disease	GENOMICS_ENGLAND
C0431478	Posteriorly rotated ear	disease	HPO
C0431659	Hypoplasia of scrotum	phenotype	HPO
C0431890	Hypoplasia of thumb	disease	HPO
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0432040	Simple syndactyly of toes, first web space	disease	CLINVAR;HPO
C0432333	Abnormal dermatoglyphic pattern	disease	HPO
C0434785	Subluxation of hip joint	phenotype	HPO
C0521525	Short neck	phenotype	HPO
C0521619	Obstruction of pelviureteric junction	phenotype	HPO
C0524528	Pervasive Development Disorder	group	BEFREE
C0524910	Hepatitis C, Chronic	disease	BEFREE
C0542519	Congenital absence of kidney	disease	HPO
C0557874	Global developmental delay	disease	BEFREE;HPO
C0600139	Prostate carcinoma	disease	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0684249	Carcinoma of lung	disease	BEFREE
C0685695	Abnormal lung lobation	disease	HPO
C0694563	Excessive daytime somnolence	phenotype	HPO
C0699790	Colon Carcinoma	disease	BEFREE
C0747085	Recurrent otitis media	disease	HPO
C0848558	Hypospadias	group	HPO
C0860204	Cholestatic liver disease	disease	HPO
C0878787	Growth failure	phenotype	BEFREE
C0917816	Mental deficiency	disease	HPO
C0920299	Overriding toe	phenotype	HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1112213	Cholestasis in newborn	disease	GENOMICS_ENGLAND
C1136179	Hammer Toe	phenotype	HPO
C1263846	Attention deficit hyperactivity disorder	disease	HPO
C1306459	Primary malignant neoplasm	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1317785	Tooth size discrepancy	phenotype	HPO
C1384666	hearing impairment	phenotype	HPO
C1386048	Intrauterine retardation	phenotype	HPO
C1389016	ATRIOVENTRICULAR CANAL DEFECT	phenotype	BEFREE;HPO
C1445957	Serum total cholesterol measurement	phenotype	GWASDB
C1457883	Aggressive reaction	phenotype	HPO
C1510497	Lens Opacities	phenotype	HPO
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1691215	Penile hypospadias	disease	HPO
C1827524	Wide spaced nipples	phenotype	HPO
C1833362	Sleep-wake cycle disturbance	phenotype	HPO
C1836195	Short toe	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1836923	Gastrointestinal dysmotility	phenotype	HPO
C1837142	Poor suck	phenotype	HPO
C1839758	Narrow forehead	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1846421	Lathosterolosis	disease	BEFREE
C1849172	Frontal lobe hypoplasia	phenotype	HPO
C1849173	Periventricular gray matter heterotopia	disease	HPO
C1849185	Elevated 7-dehydrocholesterol	phenotype	CLINVAR;HPO
C1849186	Severe photosensitivity	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1854418	Biparietal narrowing	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1857500	Broad alveolar ridges	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1858545	Facial capillary hemangioma	phenotype	HPO
C1859126	Stippled epiphyses	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865014	Long philtrum	phenotype	HPO
C1865572	Proximal placement of thumb	phenotype	HPO
C1865596	Desmosterolosis	disease	BEFREE
C2112129	Postaxial foot polydactyly	disease	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2315100	Pediatric failure to thrive	disease	HPO
C2674608	Feeding difficulties in infancy	phenotype	HPO
C2711227	Steatohepatitis	disease	BEFREE
C2713347	7-Dehydrocholesterol Reductase Deficiency	disease	BEFREE;CTD_human;ORPHANET
C2981150	Uranostaphyloschisis	disease	HPO
C3278923	Dilated ventricles (finding)	phenotype	HPO
C3279222	Aplasia/Hypoplasia of the cerebellum	phenotype	HPO
C3495559	Juvenile arthritis	disease	BEFREE
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND;HPO
C3887499	Renal cyst	phenotype	HPO
C4020749	Head circumference small for gestational age	phenotype	CLINVAR
C4020865	Fibular polydactyly	disease	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021085	Abnormality of brain morphology	phenotype	CLINVAR
C4021777	Abnormality of the larynx	phenotype	HPO
C4021785	Abnormality of the metacarpal bones	phenotype	HPO
C4023676	Increased nuchal translucency	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4082169	Metatarsus Varus	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280532	Decreased width of the skull	phenotype	HPO
C4280617	Tooth mass arch size discrepancy	phenotype	HPO
C4280618	Inadequate arch length for tooth size	phenotype	HPO
C4280675	Broad alveolar processes of jaw	phenotype	HPO
C4317146	Acid reflux	phenotype	HPO
C4476522	Oral soft tissue hyperplasia	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0009918	sterol delta7 reductase activity	IBA
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	IBA
GO:0047598	7-dehydrocholesterol reductase activity	IBA
GO:0047598	7-dehydrocholesterol reductase activity	EXP
GO:0047598	7-dehydrocholesterol reductase activity	IDA
GO:0050661	NADP binding	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001568	blood vessel development	IEA
GO:0006695	cholesterol biosynthetic process	IBA
GO:0006695	cholesterol biosynthetic process	IMP
GO:0009791	post-embryonic development	IEA
GO:0016126	sterol biosynthetic process	IBA
GO:0016132	brassinosteroid biosynthetic process	IBA
GO:0030154	cell differentiation	IEA
GO:0030324	lung development	IEA
GO:0033489	cholesterol biosynthetic process via desmosterol	TAS
GO:0033490	cholesterol biosynthetic process via lathosterol	TAS
GO:0035264	multicellular organism growth	IEA
GO:0042127	regulation of cell population proliferation	IEA
GO:0045540	regulation of cholesterol biosynthetic process	TAS
GO:0055114	oxidation-reduction process	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005640	nuclear outer membrane	IDA
GO:0005783	endoplasmic reticulum	IDA
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0005829	cytosol	IDA
GO:0016020	membrane	HDA
GO:0030176	integral component of endoplasmic reticulum membrane	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1655829	Regulation of cholesterol biosynthesis by SREBP (SREBF)	TAS
R-HSA-191273	Cholesterol biosynthesis	TAS
R-HSA-2426168	Activation of gene expression by SREBF (SREBP)	TAS
R-HSA-556833	Metabolism of lipids	TAS
R-HSA-6807047	Cholesterol biosynthesis via desmosterol	TAS
R-HSA-6807062	Cholesterol biosynthesis via lathosterol	TAS
R-HSA-8957322	Metabolism of steroids	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C049325	1,2-dithiol-3-thione	1,2-dithiol-3-thione results in decreased expression of DHCR7 mRNA	15302862
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of DHCR7 mRNA	22776087
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in decreased expression of DHCR7 mRNA	28801915
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of DHCR7 mRNA	28329830
D015058	1-Naphthylisothiocyanate	[1-Naphthylisothiocyanate co-treated with Cholic Acids] affects the expression of DHCR7 mRNA	27344345
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of DHCR7 mRNA	30723492
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of DHCR7 mRNA	31173147
C003585	22-hydroxycholesterol	22-hydroxycholesterol results in decreased expression of DHCR7 mRNA	19426978
C014211	2,3,7,8-tetrachlorodibenzofuran	2,3,7,8-tetrachlorodibenzofuran results in decreased expression of DHCR7 mRNA	21724226
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of DHCR7 mRNA	28433925
C021296	2-ethoxyethanol	2-ethoxyethanol results in increased expression of DHCR7 mRNA	19643169
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of DHCR7 mRNA	23196670
C035207	4-amino-2,6-dinitrotoluene	4-amino-2,6-dinitrotoluene affects the expression of DHCR7 mRNA	21346803
C016705	7-dehydrocholesterol	[BM 15766 results in decreased activity of DHCR7 protein] which results in increased abundance of 7-dehydrocholesterol	16365879; 16824767;
C016705	7-dehydrocholesterol	DHCR7 mutant form results in increased abundance of 7-dehydrocholesterol	16446309
C016705	7-dehydrocholesterol	DHCR7 results in increased reduction of 7-dehydrocholesterol	15896653
C016705	7-dehydrocholesterol	Simvastatin inhibits the reaction [DHCR7 mutant form results in increased abundance of 7-dehydrocholesterol]	16446309
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of DHCR7 mRNA	22079614
C496492	abrine	abrine results in decreased expression of DHCR7 mRNA	31054353
C496492	abrine	abrine results in increased expression of DHCR7 protein	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of DHCR7 mRNA	22230336; 29067470;
D000082	Acetaminophen	Acetaminophen affects the expression of DHCR7 mRNA	17562736
D000082	Acetaminophen	Acetaminophen results in increased expression of DHCR7 mRNA	29246445
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of DHCR7 mRNA	17585979
D000082	Acetaminophen	PANX1 gene mutant form inhibits the reaction [Acetaminophen results in increased expression of DHCR7 mRNA]	29246445
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of DHCR7 mRNA]	17585979
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of DHCR7 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of DHCR7 mRNA	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of DHCR7 mRNA	19770486
C430898	AGN 194204	AGN 194204 results in increased expression of DHCR7 mRNA	15302862
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of DHCR7 mRNA	16483693
D000661	Amphetamine	Amphetamine results in decreased expression of DHCR7 mRNA	30779732
D000726	Androgen Antagonists	[Pesticides co-treated with Phthalic Acids co-treated with Androgen Antagonists] results in decreased expression of DHCR7 mRNA	29945228
D016718	Arachidonic Acid	Arachidonic Acid results in decreased expression of DHCR7 mRNA	16704987
D001151	Arsenic	Arsenic affects the methylation of DHCR7 gene	25304211
D001280	Atrazine	Atrazine results in decreased expression of DHCR7 mRNA	25929836
C049935	avobenzone	avobenzone results in increased expression of DHCR7 mRNA	31016361
C406592	azaspiracid	azaspiracid results in increased expression of DHCR7 mRNA	28939011
D001548	Benzalkonium Compounds	Benzalkonium Compounds results in decreased activity of DHCR7 protein	26919959
D001548	Benzalkonium Compounds	Benzalkonium Compounds results in increased expression of DHCR7 mRNA	26919959
D001554	Benzene	Benzene affects the expression of DHCR7 mRNA	15878777
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of DHCR7 mRNA	20106945; 21632981;
C483161	beta-hydroxy simvastatin acid	beta-hydroxy simvastatin acid affects the expression of DHCR7 mRNA	18192240
D019324	beta-Naphthoflavone	AHR protein affects the reaction [beta-Naphthoflavone results in decreased expression of DHCR7 mRNA]	22234961
D019324	beta-Naphthoflavone	beta-Naphthoflavone results in decreased expression of DHCR7 mRNA	22234961
D000077610	Bexarotene	Bexarotene results in increased expression of DHCR7 mRNA	16648578
D001629	Bezafibrate	Bezafibrate affects the expression of DHCR7 mRNA	17719200
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of DHCR7 mRNA	27685785
C006780	bisphenol A	bisphenol A affects the expression of DHCR7 mRNA	21786754; 23557687;
C006780	bisphenol A	bisphenol A results in increased expression of DHCR7 mRNA	30248606
C006780	bisphenol A	bisphenol A results in increased methylation of DHCR7 intron	30906313
C006780	bisphenol A	bisphenol A results in increased methylation of DHCR7 promoter	30906313
C006780	bisphenol A	bisphenol A results in increased expression of DHCR7 protein	20189630
C006780	bisphenol A	bisphenol A results in increased expression of DHCR7 mRNA	29275510
C006780	bisphenol A	bisphenol A affects the expression of DHCR7 mRNA	21636974
C006780	bisphenol A	bisphenol A results in increased expression of DHCR7 mRNA	25270620
C006780	bisphenol A	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of DHCR7 mRNA	28433925
C006780	bisphenol A	bisphenol A affects the expression of DHCR7 mRNA	21786754
C006780	bisphenol A	bisphenol A affects the expression of DHCR7 mRNA	25181051; 30903817;
C006780	bisphenol A	bisphenol A results in decreased expression of DHCR7 mRNA	15901920
C006780	bisphenol A	bisphenol A results in increased methylation of DHCR7 gene	28505145
C047457	BM 15766	BM 15766 results in decreased activity of DHCR7 protein	16365879; 16824767;
C047457	BM 15766	[BM 15766 results in decreased activity of DHCR7 protein] which results in increased abundance of 7-dehydrocholesterol	16365879; 16824767;
C584509	C646 compound	C646 compound results in decreased expression of DHCR7 mRNA	26191083
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of DHCR7 mRNA	23741332
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of DHCR7 mRNA	24982889
D019256	Cadmium Chloride	Cadmium Chloride results in decreased methylation of DHCR7 promoter	22457795
D002110	Caffeine	Caffeine results in decreased expression of DHCR7 mRNA	25868845
D002117	Calcitriol	Calcitriol results in increased expression of DHCR7 mRNA	26485663
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of DHCR7 mRNA	27339419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of DHCR7 mRNA	24381012
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of DHCR7 mRNA	31150632
C533287	cariprazine	cariprazine results in decreased activity of DHCR7 protein	29698737
D002392	Catechin	[Catechin co-treated with Grape Seed Proanthocyanidins] results in increased expression of DHCR7 mRNA	24763279
C026690	cerous chloride	cerous chloride affects the expression of DHCR7 mRNA	23139204
D007631	Chlordecone	Chlordecone results in increased expression of DHCR7 mRNA	29458080
D004390	Chlorpyrifos	Chlorpyrifos results in increased expression of DHCR7 mRNA	21356183
D002784	Cholesterol	DHCR7 mutant form affects the susceptibility to Cholesterol	19365639
D002784	Cholesterol	DHCR7 mutant form results in decreased abundance of Cholesterol	16446309
D002784	Cholesterol	DHCR7 results in increased chemical synthesis of Cholesterol	15896653
D002784	Cholesterol	Simvastatin promotes the reaction [DHCR7 results in increased chemical synthesis of Cholesterol]	15896653
D002793	Cholic Acids	[1-Naphthylisothiocyanate co-treated with Cholic Acids] affects the expression of DHCR7 mRNA	27344345
D002793	Cholic Acids	[Cyclosporine co-treated with Cholic Acids] affects the expression of DHCR7 mRNA	27344345
D002793	Cholic Acids	[Ethinyl Estradiol co-treated with Cholic Acids] affects the expression of DHCR7 mRNA	27344345
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of DHCR7 mRNA	20938992
D002922	Ciguatoxins	Ciguatoxins affects the expression of DHCR7 mRNA	18353800
D002945	Cisplatin	Cisplatin affects the expression of DHCR7 mRNA	27594783
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of DHCR7 mRNA	27392435
D002945	Cisplatin	[Cisplatin co-treated with Paclitaxel] results in increased expression of DHCR7 mRNA	20705681
D002945	Cisplatin	Cisplatin results in decreased expression of DHCR7 mRNA	24280081
D002990	Clobetasol	Clobetasol results in increased expression of DHCR7 mRNA	27462272
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of DHCR7 mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of DHCR7 mRNA]	17585979
D003024	Clozapine	Clozapine results in increased expression of DHCR7 mRNA	17052361
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of DHCR7 mRNA	24612858
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of DHCR7 mRNA	19320972
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of DHCR7 mRNA	20971185
D003300	Copper	Copper results in decreased expression of DHCR7 mRNA	22465980
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of DHCR7 mRNA	19549813
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in increased expression of DHCR7 mRNA	19167446
D003375	Coumestrol	Coumestrol results in increased expression of DHCR7 mRNA	19167446
D003471	Cuprizone	Cuprizone results in decreased expression of DHCR7 mRNA	27523638
D003474	Curcumin	Curcumin affects the expression of DHCR7 mRNA	27208389
D003474	Curcumin	Curcumin results in decreased expression of DHCR7 mRNA	27208389
D016572	Cyclosporine	[Cyclosporine co-treated with Cholic Acids] affects the expression of DHCR7 mRNA	27344345
D016572	Cyclosporine	Cyclosporine results in decreased expression of DHCR7 mRNA	20106945; 21632981; 25562108;
D016572	Cyclosporine	Cyclosporine results in increased expression of DHCR7 mRNA	27989131
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of DHCR7 mRNA]	27941970
C049098	diallyl phthalate	diallyl phthalate results in increased expression of DHCR7 protein	20189630
C016366	dibenzothiophene	dibenzothiophene results in increased expression of DHCR7 mRNA	23656968
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of DHCR7 mRNA	17361019; 21266533;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of DHCR7 mRNA	21266533; 21745491;
D004041	Dietary Fats	Dietary Fats affects the expression of DHCR7 mRNA	19680557
D004041	Dietary Fats	[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of DHCR7 mRNA	28433925
D004041	Dietary Fats	Dietary Fats results in decreased expression of DHCR7 mRNA	19030233; 22609946; 30120929;
D004041	Dietary Fats	Dietary Fats results in increased expression of DHCR7 mRNA	25016146
D019422	Dietary Sucrose	[Dietary Fats co-treated with Dietary Sucrose] results in decreased expression of DHCR7 mRNA	28433925
D004051	Diethylhexyl Phthalate	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of DHCR7 mRNA	28433925
D004052	Diethylnitrosamine	Diethylnitrosamine results in increased expression of DHCR7 mRNA	24535843
C115058	difenoconazole	difenoconazole results in increased expression of DHCR7 mRNA	28263823
C089799	diheptyl phthalate	diheptyl phthalate results in decreased expression of DHCR7 mRNA	22112501
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of DHCR7 mRNA	29458080
C025605	diisobutyl phthalate	diisobutyl phthalate affects the expression of DHCR7 mRNA	29458080
C012125	diisononyl phthalate	diisononyl phthalate results in decreased expression of DHCR7 mRNA	22112501
D004128	Dimethylnitrosamine	Dimethylnitrosamine results in decreased expression of DHCR7 mRNA	17547211
C034171	di-n-pentyl phthalate	di-n-pentyl phthalate results in decreased expression of DHCR7 mRNA	22112501; 25055962;
C034171	di-n-pentyl phthalate	[Simvastatin co-treated with di-n-pentyl phthalate] results in decreased expression of DHCR7 mRNA	25055962
D013759	Dronabinol	Dronabinol results in decreased expression of DHCR7 mRNA	18454173
D004726	Endosulfan	Endosulfan affects the expression of DHCR7 mRNA	29391264
D004726	Endosulfan	Endosulfan results in decreased expression of DHCR7 mRNA	29391264
D004958	Estradiol	Estradiol results in increased expression of DHCR7 mRNA	19167446
D000431	Ethanol	Ethanol affects the splicing of DHCR7 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of DHCR7 mRNA	19167417
D000431	Ethanol	[Fish Oils co-treated with Ethanol] results in increased expression of DHCR7 mRNA	17347304
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of DHCR7 mRNA	16872691
D004997	Ethinyl Estradiol	[Ethinyl Estradiol co-treated with Cholic Acids] affects the expression of DHCR7 mRNA	27344345
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of DHCR7 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of DHCR7 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of DHCR7 mRNA	23143038
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of DHCR7 mRNA	15901920
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of DHCR7 mRNA	16174780
C002994	ethylene dimethanesulfonate	ethylene dimethanesulfonate results in decreased expression of DHCR7 mRNA	22711419
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of DHCR7 mRNA	23649840
C545733	fatostatin	fatostatin results in decreased expression of DHCR7 mRNA	19716478
D005228	Fatty Acids, Essential	Fatty Acids, Essential deficiency results in increased expression of DHCR7 mRNA	23333450
D015525	Fatty Acids, Omega-3	[Fatty Acids, Omega-3 deficiency co-treated with Vehicle Emissions] results in increased expression of DHCR7 mRNA	29175182
D015525	Fatty Acids, Omega-3	Fatty Acids, Omega-3 deficiency results in increased expression of DHCR7 mRNA	29175182
C033789	fenarimol	fenarimol results in increased expression of DHCR7 mRNA	28970091
D005395	Fish Oils	[Fish Oils co-treated with Ethanol] results in increased expression of DHCR7 mRNA	17347304
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of DHCR7 mRNA	28329830
C007738	fluoranthene	fluoranthene results in decreased expression of DHCR7 mRNA	28329830
D005485	Flutamide	Flutamide results in increased expression of DHCR7 mRNA	19299419; 24136188;
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of DHCR7 mRNA	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of DHCR7 mRNA	23649840
C515005	ganoderic acid A	ganoderic acid A results in decreased expression of DHCR7 mRNA	29852127
D005944	Glucosamine	Glucosamine results in increased expression of DHCR7 mRNA	17178593
C511402	Grape Seed Proanthocyanidins	[Catechin co-treated with Grape Seed Proanthocyanidins] results in increased expression of DHCR7 mRNA	24763279
C000593030	GSK-J4	GSK-J4 results in decreased expression of DHCR7 mRNA	29301935
D006220	Haloperidol	Haloperidol results in increased expression of DHCR7 mRNA	29458080
D006861	Hydrogen Peroxide	[isoquercitrin co-treated with Hydrogen Peroxide] results in increased expression of DHCR7 mRNA	18032389
C492448	ICG 001	ICG 001 results in decreased expression of DHCR7 mRNA	26191083
C016527	isoquercitrin	[isoquercitrin co-treated with Hydrogen Peroxide] results in increased expression of DHCR7 mRNA	18032389
D015474	Isotretinoin	Isotretinoin results in decreased expression of DHCR7 mRNA	20436886
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of DHCR7 mRNA	27392435
C544151	jinfukang	jinfukang results in increased expression of DHCR7 mRNA	27392435
D007654	Ketoconazole	Ketoconazole results in increased expression of DHCR7 mRNA	28263823
D000077339	Leflunomide	Leflunomide results in decreased expression of DHCR7 mRNA	28988120
D000077339	Leflunomide	Leflunomide results in increased expression of DHCR7 mRNA	24136188
C018584	linalool	linalool results in increased expression of DHCR7 mRNA	24752549
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased expression of DHCR7 mRNA	20938992
D008731	Methoxychlor	Methoxychlor results in increased expression of DHCR7 mRNA	21276474
C005219	methyl cellosolve	methyl cellosolve results in increased expression of DHCR7 mRNA	19643169
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of DHCR7 mRNA	23649840
D008825	Miconazole	Miconazole results in increased expression of DHCR7 mRNA	27462272
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of DHCR7 mRNA	22401849
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate affects the expression of DHCR7	19560483
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate affects the expression of DHCR7 mRNA	16809437
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of DHCR7 mRNA	16809437
C406082	monomethylarsonous acid	monomethylarsonous acid results in decreased expression of DHCR7 mRNA	24625837
C437683	motexafin gadolinium	motexafin gadolinium results in decreased expression of DHCR7 mRNA	16357179
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of DHCR7 mRNA	24389112
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of DHCR7 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of DHCR7 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of DHCR7 mRNA	25620056
D009281	Naphthalenes	Naphthalenes results in decreased expression of DHCR7 protein	17337753
C017096	n-butoxyethanol	n-butoxyethanol results in increased expression of DHCR7 mRNA	19812364
D009532	Nickel	Nickel results in decreased expression of DHCR7 mRNA	24768652
D005996	Nitroglycerin	Nitroglycerin results in decreased expression of DHCR7 mRNA	12102619
C014707	nitrosobenzylmethylamine	nitrosobenzylmethylamine results in decreased expression of DHCR7 mRNA	17616710
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of DHCR7 mRNA	20971185
C464660	obeticholic acid	obeticholic acid results in increased expression of DHCR7 mRNA	27939613
C025589	ochratoxin A	ochratoxin A results in decreased expression of DHCR7 mRNA	19287073
C016340	o,p'-DDT	o,p'-DDT affects the expression of DHCR7 mRNA	17984292
D010126	Ozone	Ozone results in decreased expression of DHCR7 mRNA	16716893
D017239	Paclitaxel	[Cisplatin co-treated with Paclitaxel] results in increased expression of DHCR7 mRNA	20705681
D000073878	Palm Oil	Palm Oil affects the expression of DHCR7 mRNA	19680557
D010269	Paraquat	Paraquat results in decreased expression of DHCR7 mRNA	16328009
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of DHCR7 mRNA	19162173
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of DHCR7 mRNA	23427857
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of DHCR7 mRNA	19162173
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of DHCR7 mRNA	25868421
C027579	periodate-oxidized adenosine	periodate-oxidized adenosine affects the expression of DHCR7 mRNA	17097637
D010575	Pesticides	[Pesticides co-treated with Phthalic Acids co-treated with Androgen Antagonists] results in decreased expression of DHCR7 mRNA	29945228
C058305	phenethyl isothiocyanate	phenethyl isothiocyanate results in decreased expression of DHCR7 mRNA	26678675
D010634	Phenobarbital	Phenobarbital results in increased expression of DHCR7 mRNA	25270620
D010634	Phenobarbital	Phenobarbital results in increased expression of DHCR7 mRNA	19162173
D010656	Phenylephrine	Phenylephrine results in increased expression of DHCR7 mRNA	18158353
D010665	Phenylpropanolamine	Phenylpropanolamine results in increased expression of DHCR7 mRNA	27756839
D010795	Phthalic Acids	[Pesticides co-treated with Phthalic Acids co-treated with Androgen Antagonists] results in decreased expression of DHCR7 mRNA	29945228
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of DHCR7 mRNA	15728792
D010852	Picrotoxin	Picrotoxin results in decreased expression of DHCR7 mRNA	15170462
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of DHCR7 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of DHCR7 mRNA	18445702
C006253	pirinixic acid	pirinixic acid results in increased expression of DHCR7 mRNA	11798191; 17426115;
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of DHCR7 mRNA	23718831
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of DHCR7 protein	23718831
C572919	PP242	PP242 results in decreased expression of DHCR7 mRNA	30679557
D011374	Progesterone	Progesterone results in increased expression of DHCR7 mRNA	23012394
D011374	Progesterone	Progesterone results in increased expression of DHCR7 mRNA	18070364
C045950	propiconazole	propiconazole results in increased expression of DHCR7 mRNA	17178688; 21278054;
C045950	propiconazole	propiconazole results in increased expression of DHCR7 mRNA	28970091
D011441	Propylthiouracil	Propylthiouracil affects the expression of DHCR7 mRNA	24780913
C513428	pyrachlostrobin	pyrachlostrobin results in decreased expression of DHCR7 mRNA	27029645
D011794	Quercetin	Quercetin results in decreased expression of DHCR7 mRNA	21632981
C502851	quinocetone	quinocetone results in increased expression of DHCR7 mRNA	27046791
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in increased expression of DHCR7 mRNA	19167446
D000077185	Resveratrol	Resveratrol results in increased expression of DHCR7 protein	25505154
D019438	Ritonavir	Ritonavir affects the expression of DHCR7 mRNA	17719200
D012402	Rotenone	Rotenone results in increased expression of DHCR7 mRNA	29955902
D012643	Selenium	Selenium results in increased expression of DHCR7 mRNA	19244175
D019821	Simvastatin	DHCR7 mutant form affects the susceptibility to Simvastatin	19365639
D019821	Simvastatin	Simvastatin promotes the reaction [DHCR7 results in increased chemical synthesis of Cholesterol]	15896653
D019821	Simvastatin	Simvastatin inhibits the reaction [DHCR7 mutant form results in increased abundance of 7-dehydrocholesterol]	16446309
D019821	Simvastatin	[Simvastatin co-treated with di-n-pentyl phthalate] results in decreased expression of DHCR7 mRNA	25055962
C017947	sodium arsenite	sodium arsenite results in decreased expression of DHCR7 mRNA	29361514
C017947	sodium arsenite	sodium arsenite results in increased expression of DHCR7 mRNA	25524072
C016104	sodium bichromate	sodium bichromate results in decreased expression of DHCR7 mRNA	24612858
D012967	Sodium Dodecyl Sulfate	Sodium Dodecyl Sulfate results in decreased expression of DHCR7 mRNA	12815608
D053260	Soot	Soot results in decreased expression of DHCR7 mRNA	22461453
D053260	Soot	Soot results in increased expression of DHCR7 mRNA	22461453
C025462	sulindac sulfide	sulindac sulfide results in decreased expression of DHCR7 mRNA	16184548
D000077210	Sunitinib	Sunitinib results in increased expression of DHCR7 mRNA	31533062
C013698	tallow	tallow affects the expression of DHCR7 mRNA	19680557
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of DHCR7 mRNA	21570461; 26377647;
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with Diethylhexyl Phthalate co-treated with bisphenol A] results in decreased expression of DHCR7 mRNA	28433925
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of DHCR7 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of DHCR7 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of DHCR7 mRNA	21215274; 21724226;
D019284	Thapsigargin	Thapsigargin results in decreased expression of DHCR7 mRNA	22378314
D013849	Thimerosal	Thimerosal results in decreased expression of DHCR7 mRNA	27188386
C009495	titanium dioxide	titanium dioxide results in increased expression of DHCR7 mRNA	23131501; 23557971;
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of DHCR7 mRNA	28065790
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in increased expression of DHCR7 mRNA	29545142
D000077867	Tolcapone	Tolcapone binds to DHCR7 protein	19783845
D001371	trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride	trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride results in decreased activity of DHCR7 protein	16814115; 29698737;
D001371	trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride	trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride results in increased expression of DHCR7 mRNA	26919959
D001371	trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride	trans-1,4-Bis(2-chlorobenzaminomethyl)cyclohexane Dihydrochloride results in decreased activity of DHCR7 protein	26919959
D014212	Tretinoin	Tretinoin results in decreased expression of DHCR7 mRNA	23724009
C034613	triacsin C	triacsin C results in decreased expression of DHCR7 mRNA	16704987
C032910	triadimefon	triadimefon results in increased expression of DHCR7 mRNA	17178688
C012589	trichostatin A	trichostatin A results in increased expression of DHCR7 mRNA	15901671
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of DHCR7 mRNA	19042947
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of DHCR7 mRNA	26179874
D014415	Tunicamycin	Tunicamycin results in decreased expression of DHCR7 mRNA	22378314
D014635	Valproic Acid	Valproic Acid results in increased expression of DHCR7 mRNA	15901671
D014635	Valproic Acid	Valproic Acid affects the expression of DHCR7 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of DHCR7 mRNA	23179753; 27188386;
D014635	Valproic Acid	Valproic Acid affects the expression of DHCR7 mRNA	17292431
D014638	Vanadates	Vanadates results in decreased expression of DHCR7 mRNA	22714537
D001335	Vehicle Emissions	[Fatty Acids, Omega-3 deficiency co-treated with Vehicle Emissions] results in increased expression of DHCR7 mRNA	29175182
D001335	Vehicle Emissions	Vehicle Emissions affects the expression of DHCR7 mRNA	29175182
C025643	vinclozolin	vinclozolin results in decreased expression of DHCR7 mRNA	23034163
C025643	vinclozolin	vinclozolin results in increased expression of DHCR7 mRNA	22570695
D014810	Vitamin E	Vitamin E affects the expression of DHCR7 mRNA	15370891
D000077337	Vorinostat	Vorinostat results in decreased expression of DHCR7 mRNA	27188386
C066632	yessotoxin	yessotoxin analog results in increased expression of DHCR7 mRNA	30679557
D019345	Zinc Acetate	Zinc Acetate results in decreased expression of DHCR7 mRNA	16357179
D015034	Zinc Oxide	Zinc Oxide affects the expression of DHCR7 mRNA	28648595
D015034	Zinc Oxide	Zinc Oxide affects the splicing of and results in increased expression of DHCR7 mRNA	30500950
D000077211	Zoledronic Acid	Zoledronic Acid results in increased expression of DHCR7 mRNA	24714768

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0152	Cholesterol biosynthesis
KW-0153	Cholesterol metabolism
KW-0225	Disease mutation
KW-0256	Endoplasmic reticulum
KW-0444	Lipid biosynthesis
KW-0443	Lipid metabolism
KW-0472	Membrane
KW-0521	NADP
KW-0560	Oxidoreductase
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0752	Steroid biosynthesis
KW-0753	Steroid metabolism
KW-0756	Sterol biosynthesis
KW-1207	Sterol metabolism
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR001171	Ergosterol_biosynth_ERG4_ERG24
IPR018083	Sterol_reductase_CS

PROSITE

PROSITE ID	PROSITE Term
PS01017	STEROL_REDUCT_1
PS01018	STEROL_REDUCT_2

Pfam

Pfam ID	Pfam Term
PF01222	ERG4_ERG24

Gene: DHCR7

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

There is no related protein structure for this gene.

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