CleftGeneDB-Search

Gene: WNT10A

Basic information

Tag	Content
Uniprot ID	Q9GZT5; Q53S44; Q96TA7; Q9H7S8;
Entrez ID	80326
Genbank protein ID	AAG45153.1; BAG37548.1; EAW70659.1; AAH52234.1; AAG38660.1; AAY24175.1; BAB14898.1; BAB55602.1;
Genbank nucleotide ID	NM_025216.2
Ensembl protein ID	ENSP00000258411
Ensembl nucleotide ID	ENSG00000135925
Gene name	Protein Wnt-10a
Gene symbol	WNT10A
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	24957471; 16953426;
Functional description	Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Functions in the canonical Wnt/beta-catenin signaling pathway (By similarity). Plays a role in normal ectoderm development (PubMed:17847007, PubMed:28589954). Required for normal tooth development (PubMed:17847007, PubMed:29178643, PubMed:28589954). Required for normal postnatal development and maintenance of tongue papillae and sweat ducts (PubMed:28589954). Required for normal proliferation of basal cells in tongue filiform papillae, plantar epithelium and sweat ducts. Required for normal expression of keratins in tongue papillae (By similarity). Required for normal expression of KRT9 in foot plant epithelium (PubMed:28589954). Required for normal hair follicle function (PubMed:28589954).
Sequence	MGSAHPRPWL RLRPQPQPRP ALWVLLFFLL LLAAAMPRSA PNDILDLRLP PEPVLNANTV 60 CLTLPGLSRR QMEVCVRHPD VAASAIQGIQ IAIHECQHQF RDQRWNCSSL ETRNKIPYES 120 PIFSRGFRES AFAYAIAAAG VVHAVSNACA LGKLKACGCD ASRRGDEEAF RRKLHRLQLD 180 ALQRGKGLSH GVPEHPALPT ASPGLQDSWE WGGCSPDMGF GERFSKDFLD SREPHRDIHA 240 RMRLHNNRVG RQAVMENMRR KCKCHGTSGS CQLKTCWQVT PEFRTVGALL RSRFHRATLI 300 RPHNRNGGQL EPGPAGAPSP APGAPGPRRR ASPADLVYFE KSPDFCEREP RLDSAGTVGR 360 LCNKSSAGSD GCGSMCCGRG HNILRQTRSE RCHCRFHWCC FVVCEECRIT EWVSVCK 417

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	Developmental stage	Species	Evidence	Details
1:1 ortholog	WNT10A	537330	F1MEW8			Bos taurus	Prediction	More>>
1:1 ortholog	WNT10A	488528	E2RH98			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	WNT10A	102177945	A0A452FQH4			Capra hircus	Prediction	More>>
1:1 ortholog	WNT10A	80326	Q9GZT5	CPO,CL/P		Homo sapiens	Publication	More>>
1:1 ortholog	Wnt10a	22409	P70701		E14.5	Mus musculus	Prediction	More>>
1:1 ortholog	WNT10A	459952	H2QJF8			Pan troglodytes	Prediction	More>>
1:1 ortholog	WNT10A	100352839	G1TAR3			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Wnt10a	316527	D3ZRW5			Rattus norvegicus	Prediction	More>>
1:1 ortholog	wnt10a	30171	B0V1G8			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
WNT10A	392C>T	PCR-RFLP	24957471
WNT10A	rs147680216G>A; p.Gly213Ser	PCR-RFLP	31155400

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1456778190	p.Gly2Val	missense variant	-	NC_000002.12:g.218881000G>T	TOPMed
rs533605522	p.Gly2Ser	missense variant	-	NC_000002.12:g.218880999G>A	1000Genomes,ExAC,gnomAD
rs1224131248	p.Ser3Ile	missense variant	-	NC_000002.12:g.218881003G>T	gnomAD
rs1324234734	p.Ser3Cys	missense variant	-	NC_000002.12:g.218881002A>T	TOPMed,gnomAD
rs1250814247	p.Ala4Thr	missense variant	-	NC_000002.12:g.218881005G>A	gnomAD
rs762798470	p.Arg7Ser	missense variant	-	NC_000002.12:g.218881014C>A	ExAC,TOPMed,gnomAD
rs762798470	p.Arg7Cys	missense variant	-	NC_000002.12:g.218881014C>T	ExAC,TOPMed,gnomAD
rs762798470	p.Arg7Gly	missense variant	-	NC_000002.12:g.218881014C>G	ExAC,TOPMed,gnomAD
rs1490274443	p.Pro8Arg	missense variant	-	NC_000002.12:g.218881018C>G	gnomAD
COSM3577820	p.Pro8Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218881017C>T	NCI-TCGA Cosmic
rs751336433	p.Trp9Arg	missense variant	-	NC_000002.12:g.218881020T>C	ExAC,TOPMed
RCV000004720	p.Trp9Ter	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218881022G>A	ClinVar
rs1197751092	p.Trp9Leu	missense variant	-	NC_000002.12:g.218881021G>T	gnomAD
rs121908123	p.Trp9Ter	stop gained	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218881022G>A	-
rs920172499	p.Leu10Arg	missense variant	-	NC_000002.12:g.218881024T>G	TOPMed,gnomAD
rs1431999158	p.Arg11Gly	missense variant	-	NC_000002.12:g.218881026C>G	TOPMed,gnomAD
rs1208587249	p.Arg11Leu	missense variant	-	NC_000002.12:g.218881027G>T	TOPMed
rs756946393	p.Arg13Ter	stop gained	-	NC_000002.12:g.218881032C>T	ExAC,gnomAD
rs767104236	p.Arg13Pro	missense variant	-	NC_000002.12:g.218881033G>C	ExAC,TOPMed,gnomAD
rs1164088225	p.Pro16Thr	missense variant	-	NC_000002.12:g.218881041C>A	TOPMed,gnomAD
rs1304739962	p.Gln17Ter	stop gained	-	NC_000002.12:g.218881044C>T	gnomAD
rs749946704	p.Pro18Ala	missense variant	-	NC_000002.12:g.218881047C>G	ExAC,TOPMed,gnomAD
rs1311504245	p.Arg19Leu	missense variant	-	NC_000002.12:g.218881051G>T	TOPMed
rs779424847	p.Pro20Gln	missense variant	-	NC_000002.12:g.218881054C>A	ExAC,TOPMed,gnomAD
rs1305814474	p.Pro20Ser	missense variant	-	NC_000002.12:g.218881053C>T	gnomAD
rs749864407	p.Ala21Val	missense variant	-	NC_000002.12:g.218881057C>T	ExAC,TOPMed,gnomAD
rs749864407	p.Ala21Gly	missense variant	-	NC_000002.12:g.218881057C>G	ExAC,TOPMed,gnomAD
rs1252067608	p.Ala21Thr	missense variant	-	NC_000002.12:g.218881056G>A	gnomAD
rs1220645831	p.Trp23Ter	stop gained	-	NC_000002.12:g.218881063G>A	gnomAD
rs779458717	p.Val24Met	missense variant	-	NC_000002.12:g.218881065G>A	ExAC,TOPMed,gnomAD
rs779458717	p.Val24Leu	missense variant	-	NC_000002.12:g.218881065G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu25Phe	missense variant	-	NC_000002.12:g.218881068C>T	NCI-TCGA
rs747065109	p.Phe27Leu	missense variant	-	NC_000002.12:g.218881074T>C	ExAC,gnomAD
rs1454334671	p.Leu29Pro	missense variant	-	NC_000002.12:g.218881081T>C	TOPMed
rs1384152431	p.Leu30Pro	missense variant	-	NC_000002.12:g.218881084T>C	gnomAD
rs1276330659	p.Ala35Thr	missense variant	-	NC_000002.12:g.218881098G>A	TOPMed,gnomAD
rs1276330659	p.Ala35Pro	missense variant	-	NC_000002.12:g.218881098G>C	TOPMed,gnomAD
rs915885112	p.Met36Ile	missense variant	-	NC_000002.12:g.218881103G>C	gnomAD
rs915885112	p.Met36Ile	missense variant	-	NC_000002.12:g.218881103G>A	gnomAD
rs1365925081	p.Met36Leu	missense variant	-	NC_000002.12:g.218881101A>T	gnomAD
rs776565022	p.Pro37Thr	missense variant	-	NC_000002.12:g.218881104C>A	ExAC,TOPMed,gnomAD
rs1364023914	p.Pro37Arg	missense variant	-	NC_000002.12:g.218881105C>G	gnomAD
rs776565022	p.Pro37Ala	missense variant	-	NC_000002.12:g.218881104C>G	ExAC,TOPMed,gnomAD
rs776565022	p.Pro37Ser	missense variant	-	NC_000002.12:g.218881104C>T	ExAC,TOPMed,gnomAD
rs748539203	p.Arg38Ser	missense variant	-	NC_000002.12:g.218882161G>T	ExAC,gnomAD
rs762998852	p.Arg38Trp	missense variant	-	NC_000002.12:g.218881107A>T	ExAC,gnomAD
rs762998852	p.Arg38Gly	missense variant	-	NC_000002.12:g.218881107A>G	ExAC,gnomAD
rs1427142853	p.Ser39Thr	missense variant	-	NC_000002.12:g.218882162T>A	gnomAD
rs149865858	p.Asn42Ser	missense variant	-	NC_000002.12:g.218882172A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149865858	p.Asn42Ile	missense variant	-	NC_000002.12:g.218882172A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1296704490	p.Leu47Pro	missense variant	-	NC_000002.12:g.218882187T>C	TOPMed,gnomAD
rs1441739237	p.Leu47Ile	missense variant	-	NC_000002.12:g.218882186C>A	TOPMed,gnomAD
rs1441739237	p.Leu47Phe	missense variant	-	NC_000002.12:g.218882186C>T	TOPMed,gnomAD
rs375577530	p.Arg48Leu	missense variant	-	NC_000002.12:g.218882190G>T	ESP,ExAC,TOPMed,gnomAD
rs375577530	p.Arg48His	missense variant	-	NC_000002.12:g.218882190G>A	ESP,ExAC,TOPMed,gnomAD
rs774127616	p.Arg48Cys	missense variant	-	NC_000002.12:g.218882189C>T	ExAC,TOPMed,gnomAD
rs1283156128	p.Leu49Ile	missense variant	-	NC_000002.12:g.218882192C>A	TOPMed,gnomAD
rs1283156128	p.Leu49Phe	missense variant	-	NC_000002.12:g.218882192C>T	TOPMed,gnomAD
RCV000344076	p.Pro50Leu	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882196C>T	ClinVar
RCV000543463	p.Pro50Leu	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882196C>T	ClinVar
rs199980023	p.Pro50His	missense variant	-	NC_000002.12:g.218882196C>A	ESP,ExAC,TOPMed,gnomAD
rs745898676	p.Pro50Thr	missense variant	-	NC_000002.12:g.218882195C>A	ExAC,gnomAD
rs199980023	p.Pro50Leu	missense variant	-	NC_000002.12:g.218882196C>T	ESP,ExAC,TOPMed,gnomAD
RCV000397838	p.Pro50Leu	missense variant	-	NC_000002.12:g.218882196C>T	ClinVar
RCV000289030	p.Pro50Leu	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218882196C>T	ClinVar
rs372538189	p.Pro51Leu	missense variant	-	NC_000002.12:g.218882199C>T	ESP,ExAC,TOPMed,gnomAD
rs372538189	p.Pro51Arg	missense variant	-	NC_000002.12:g.218882199C>G	ESP,ExAC,TOPMed,gnomAD
rs749297006	p.Pro51ArgPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.218882194C>-	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu52GlyPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.218882193_218882194insC	NCI-TCGA
rs1483233058	p.Pro53His	missense variant	-	NC_000002.12:g.218882205C>A	gnomAD
rs375821607	p.Val54Met	missense variant	-	NC_000002.12:g.218882207G>A	ESP,ExAC,TOPMed,gnomAD
COSM4091548	p.Leu55Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218882210C>T	NCI-TCGA Cosmic
rs1481386773	p.Asn56Ser	missense variant	-	NC_000002.12:g.218882214A>G	gnomAD
rs1425958867	p.Ala57Val	missense variant	-	NC_000002.12:g.218882217C>T	gnomAD
rs916352937	p.Asn58Ser	missense variant	-	NC_000002.12:g.218882220A>G	TOPMed,gnomAD
rs1391749559	p.Leu64Phe	missense variant	-	NC_000002.12:g.218882239G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro65Arg	missense variant	-	NC_000002.12:g.218882241C>G	NCI-TCGA
COSM3577821	p.Pro65Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218882240C>T	NCI-TCGA Cosmic
rs984053888	p.Gly66Ser	missense variant	-	NC_000002.12:g.218882243G>A	TOPMed,gnomAD
rs772059787	p.Leu67Pro	missense variant	-	NC_000002.12:g.218882247T>C	ExAC,gnomAD
rs147129328	p.Ser68Asn	missense variant	-	NC_000002.12:g.218882250G>A	ESP,TOPMed
rs751841151	p.Arg69Leu	missense variant	-	NC_000002.12:g.218882253G>T	ExAC,TOPMed,gnomAD
rs200487809	p.Arg69Gly	missense variant	-	NC_000002.12:g.218882252C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs200487809	p.Arg69Trp	missense variant	-	NC_000002.12:g.218882252C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs751841151	p.Arg69Gln	missense variant	-	NC_000002.12:g.218882253G>A	ExAC,TOPMed,gnomAD
rs781210267	p.Arg70Gln	missense variant	-	NC_000002.12:g.218882256G>A	ExAC,TOPMed,gnomAD
rs146460077	p.Arg70Trp	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882255C>T	UniProt,dbSNP
VAR_079418	p.Arg70Trp	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882255C>T	UniProt
rs146460077	p.Arg70Trp	missense variant	-	NC_000002.12:g.218882255C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000639740	p.Arg70Trp	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882255C>T	ClinVar
rs368943130	p.Gln71Leu	missense variant	-	NC_000002.12:g.218882259A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln71Arg	missense variant	-	NC_000002.12:g.218882259A>G	NCI-TCGA
rs373607885	p.Met72Ile	missense variant	-	NC_000002.12:g.218882263G>T	ESP,ExAC,TOPMed,gnomAD
RCV000558141	p.Met72Ile	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882263G>T	ClinVar
rs373607885	p.Met72Ile	missense variant	-	NC_000002.12:g.218882263G>A	ESP,ExAC,TOPMed,gnomAD
rs1221394460	p.Glu73Gly	missense variant	-	NC_000002.12:g.218882265A>G	gnomAD
rs748131786	p.Arg77Cys	missense variant	-	NC_000002.12:g.218882276C>T	ExAC,TOPMed,gnomAD
rs761027045	p.Arg77His	missense variant	-	NC_000002.12:g.218882277G>A	ExAC,TOPMed,gnomAD
COSM1405526	p.Arg77CysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.218882266_218882267insGT	NCI-TCGA Cosmic
rs1402476029	p.His78Arg	missense variant	-	NC_000002.12:g.218882280A>G	TOPMed
rs199802454	p.His78Gln	missense variant	-	NC_000002.12:g.218882281C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000483296	p.Val81Ala	missense variant	-	NC_000002.12:g.218882289T>C	ClinVar
rs1064796619	p.Val81Ala	missense variant	-	NC_000002.12:g.218882289T>C	-
NCI-TCGA novel	p.Ala82Thr	missense variant	-	NC_000002.12:g.218882291G>A	NCI-TCGA
rs760336599	p.Ala83Thr	missense variant	-	NC_000002.12:g.218882294G>A	ExAC,TOPMed,gnomAD
rs770632441	p.Ala83Gly	missense variant	-	NC_000002.12:g.218882295C>G	ExAC,gnomAD
rs776083669	p.Ala85Thr	missense variant	-	NC_000002.12:g.218882300G>A	ExAC,gnomAD
rs759258188	p.Ile86Thr	missense variant	-	NC_000002.12:g.218882304T>C	ExAC,TOPMed,gnomAD
rs1430621072	p.Gln87His	missense variant	-	NC_000002.12:g.218882308G>T	gnomAD
rs1443984375	p.Gly88Ser	missense variant	-	NC_000002.12:g.218882309G>A	TOPMed
NCI-TCGA novel	p.Gly88Asp	missense variant	-	NC_000002.12:g.218882310G>A	NCI-TCGA
rs1553622317	p.Ala92Val	missense variant	-	NC_000002.12:g.218882322C>T	-
rs572942384	p.Ala92Thr	missense variant	-	NC_000002.12:g.218882321G>A	ExAC,TOPMed
rs572942384	p.Ala92Pro	missense variant	-	NC_000002.12:g.218882321G>C	ExAC,TOPMed
RCV000639736	p.Ala92Val	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882322C>T	ClinVar
rs6744926	p.Ile93Phe	missense variant	-	NC_000002.12:g.218882324A>T	TOPMed,gnomAD
rs6744926	p.Ile93Val	missense variant	-	NC_000002.12:g.218882324A>G	TOPMed,gnomAD
rs1326361907	p.His94Tyr	missense variant	-	NC_000002.12:g.218882327C>T	gnomAD
rs318240759	p.Glu95Lys	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882330G>A	UniProt,dbSNP
VAR_069171	p.Glu95Lys	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882330G>A	UniProt
rs318240759	p.Glu95Lys	missense variant	-	NC_000002.12:g.218882330G>A	gnomAD
RCV000811807	p.Glu95Lys	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882330G>A	ClinVar
rs1365352483	p.Cys96Ser	missense variant	-	NC_000002.12:g.218882334G>C	gnomAD
rs1244745229	p.His98Gln	missense variant	-	NC_000002.12:g.218882341C>A	TOPMed,gnomAD
RCV000782362	p.Arg104His	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882358G>A	ClinVar
rs764658964	p.Arg104Cys	missense variant	-	NC_000002.12:g.218882357C>T	ExAC,TOPMed,gnomAD
RCV000639735	p.Arg104Cys	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882357C>T	ClinVar
rs374910216	p.Arg104His	missense variant	-	NC_000002.12:g.218882358G>A	ExAC,TOPMed,gnomAD
RCV000305206	p.Trp105Cys	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882362G>C	ClinVar
COSM3909616	p.Trp105Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.218882362G>A	NCI-TCGA Cosmic
rs886055642	p.Trp105Cys	missense variant	-	NC_000002.12:g.218882362G>C	-
RCV000359992	p.Trp105Cys	missense variant	-	NC_000002.12:g.218882362G>C	ClinVar
RCV000260696	p.Trp105Cys	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218882362G>C	ClinVar
rs1283426045	p.Asn106Lys	missense variant	-	NC_000002.12:g.218882365C>G	gnomAD
rs377510918	p.Cys107Ser	missense variant	-	NC_000002.12:g.218882366T>A	ESP,ExAC,TOPMed,gnomAD
rs121908119	p.Cys107Ter	stop gained	Odontoonychodermal dysplasia (oodd), Schopf-schulz-passarge syndrome (ssps)	NC_000002.12:g.218882368C>A	ESP,ExAC,TOPMed,gnomAD
RCV000779308	p.Cys107Ter	nonsense	WNT10A-Related Disorders	NC_000002.12:g.218882368C>A	ClinVar
RCV000190800	p.Cys107Ter	nonsense	Inborn genetic diseases	NC_000002.12:g.218882368C>A	ClinVar
RCV000030650	p.Cys107Ter	nonsense	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882368C>A	ClinVar
RCV000255732	p.Cys107Ter	nonsense	-	NC_000002.12:g.218882368C>A	ClinVar
RCV000004715	p.Cys107Ter	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882368C>A	ClinVar
RCV000477935	p.Cys107Ter	nonsense	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218882368C>A	ClinVar
RCV000004716	p.Cys107Ter	nonsense	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218882368C>A	ClinVar
RCV000536747	p.Cys107Ter	nonsense	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882368C>A	ClinVar
VAR_079419	p.Cys107_Lys417del	inframe_deletion	Tooth agenesis, selective, 4 (STHAG4) [MIM:150400]	-	UniProt
rs1249944381	p.Ser108Pro	missense variant	-	NC_000002.12:g.218882369T>C	TOPMed,gnomAD
rs754001343	p.Ser109Arg	missense variant	-	NC_000002.12:g.218882374C>G	ExAC,gnomAD
rs1183210495	p.Leu110Pro	missense variant	-	NC_000002.12:g.218882376T>C	gnomAD
rs1287697517	p.Glu111Gly	missense variant	-	NC_000002.12:g.218882379A>G	gnomAD
rs1383631669	p.Thr112Ala	missense variant	-	NC_000002.12:g.218882381A>G	gnomAD
RCV000413047	p.Arg113Cys	missense variant	-	NC_000002.12:g.218882384C>T	ClinVar
rs141074983	p.Arg113Cys	missense variant	-	NC_000002.12:g.218882384C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749324327	p.Arg113His	missense variant	-	NC_000002.12:g.218882385G>A	ExAC,TOPMed,gnomAD
rs141074983	p.Arg113Ser	missense variant	-	NC_000002.12:g.218882384C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg113Leu	missense variant	-	NC_000002.12:g.218882385G>T	NCI-TCGA
rs762311530	p.Ile116Thr	missense variant	-	NC_000002.12:g.218882394T>C	ExAC,TOPMed,gnomAD
rs746826999	p.Pro117Arg	missense variant	-	NC_000002.12:g.218882397C>G	ExAC,gnomAD
rs144212422	p.Pro117Ser	missense variant	-	NC_000002.12:g.218882396C>T	ESP,ExAC,TOPMed,gnomAD
rs746826999	p.Pro117Leu	missense variant	-	NC_000002.12:g.218882397C>T	ExAC,gnomAD
RCV000315891	p.Pro117Ser	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218882396C>T	ClinVar
RCV000275342	p.Pro117Ser	missense variant	-	NC_000002.12:g.218882396C>T	ClinVar
RCV000356033	p.Pro117Ser	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218882396C>T	ClinVar
rs770699256	p.Glu119Lys	missense variant	-	NC_000002.12:g.218882402G>A	ExAC,gnomAD
rs775174153	p.Ile122Thr	missense variant	-	NC_000002.12:g.218882412T>C	ExAC,gnomAD
rs201929547	p.Ile122Val	missense variant	-	NC_000002.12:g.218882411A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201929547	p.Ile122Phe	missense variant	-	NC_000002.12:g.218882411A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1245189224	p.Gly126Ser	missense variant	-	NC_000002.12:g.218882423G>A	gnomAD
rs1245189224	p.Gly126Ser	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882423G>A	UniProt,dbSNP
VAR_077446	p.Gly126Ser	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218882423G>A	UniProt
rs1253106095	p.Phe127Val	missense variant	-	NC_000002.12:g.218889986T>G	gnomAD
rs121908121	p.Arg128Gln	missense variant	-	NC_000002.12:g.218889990G>A	ESP,ExAC,TOPMed,gnomAD
rs121908121	p.Arg128Gln	missense variant	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218889990G>A	ESP,ExAC,TOPMed,gnomAD
rs121908121	p.Arg128Gln	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218889990G>A	UniProt,dbSNP
VAR_062510	p.Arg128Gln	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218889990G>A	UniProt
rs762739726	p.Arg128Ter	stop gained	-	NC_000002.12:g.218889989C>T	ExAC,TOPMed,gnomAD
RCV000551493	p.Arg128Ter	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218889989C>T	ClinVar
RCV000004718	p.Arg128Gln	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218889990G>A	ClinVar
RCV000030651	p.Arg128Gln	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218889990G>A	ClinVar
RCV000760328	p.Arg128Ter	nonsense	-	NC_000002.12:g.218889989C>T	ClinVar
rs1378858796	p.Glu129Asp	missense variant	-	NC_000002.12:g.218889994G>C	gnomAD
COSM1016519	p.Glu129Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218889994G>T	NCI-TCGA Cosmic
rs369027365	p.Ser130Gly	missense variant	-	NC_000002.12:g.218889995A>G	ESP,ExAC,gnomAD
RCV000254796	p.Ala131Thr	missense variant	-	NC_000002.12:g.218889998G>A	ClinVar
rs372993798	p.Ala131Ser	missense variant	-	NC_000002.12:g.218889998G>T	ESP,ExAC,TOPMed,gnomAD
rs372993798	p.Ala131Thr	missense variant	-	NC_000002.12:g.218889998G>A	ESP,ExAC,TOPMed,gnomAD
rs372993798	p.Ala131Thr	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218889998G>A	UniProt,dbSNP
VAR_077447	p.Ala131Thr	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218889998G>A	UniProt
VAR_077448	p.Ala131Val	Missense	Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]	-	UniProt
rs773589533	p.Ala133Val	missense variant	-	NC_000002.12:g.218890005C>T	ExAC,gnomAD
rs760970669	p.Tyr134Cys	missense variant	-	NC_000002.12:g.218890008A>G	ExAC,TOPMed,gnomAD
rs1402990329	p.Ala135Thr	missense variant	-	NC_000002.12:g.218890010G>A	gnomAD
RCV000696391	p.Ala135Thr	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890010G>A	ClinVar
rs755217072	p.Ile136Val	missense variant	-	NC_000002.12:g.218890013A>G	ExAC,gnomAD
rs201117517	p.Ile136Met	missense variant	-	NC_000002.12:g.218890015C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757175044	p.Ala137Thr	missense variant	-	NC_000002.12:g.218890016G>A	ExAC,TOPMed,gnomAD
rs745674978	p.Ala138Gly	missense variant	-	NC_000002.12:g.218890020C>G	ExAC,gnomAD
rs779978162	p.Val141Met	missense variant	-	NC_000002.12:g.218890028G>A	ExAC,TOPMed,gnomAD
rs768321561	p.Val142Met	missense variant	-	NC_000002.12:g.218890031G>A	ExAC,TOPMed,gnomAD
rs202024965	p.His143Asn	missense variant	-	NC_000002.12:g.218890034C>A	ESP,ExAC,TOPMed,gnomAD
rs202024965	p.His143Tyr	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890034C>T	UniProt,dbSNP
VAR_064837	p.His143Tyr	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890034C>T	UniProt
rs202024965	p.His143Tyr	missense variant	-	NC_000002.12:g.218890034C>T	ESP,ExAC,TOPMed,gnomAD
rs1191884760	p.His143Arg	missense variant	-	NC_000002.12:g.218890035A>G	gnomAD
rs570082664	p.Ala144Thr	missense variant	-	NC_000002.12:g.218890037G>A	ExAC,gnomAD
rs776959830	p.Val145Ala	missense variant	-	NC_000002.12:g.218890041T>C	ExAC,TOPMed,gnomAD
rs543063101	p.Val145Leu	missense variant	-	NC_000002.12:g.218890040G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000525525	p.Val145Met	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890040G>A	ClinVar
rs543063101	p.Val145Leu	missense variant	-	NC_000002.12:g.218890040G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs543063101	p.Val145Met	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890040G>A	UniProt,dbSNP
VAR_064838	p.Val145Met	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890040G>A	UniProt
rs543063101	p.Val145Met	missense variant	-	NC_000002.12:g.218890040G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000381373	p.Ser146Cys	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890044C>G	ClinVar
rs759718991	p.Ser146Cys	missense variant	-	NC_000002.12:g.218890044C>G	ExAC,gnomAD
RCV000326647	p.Ser146Cys	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218890044C>G	ClinVar
RCV000291690	p.Ser146Cys	missense variant	-	NC_000002.12:g.218890044C>G	ClinVar
rs373695499	p.Ala148Val	missense variant	-	NC_000002.12:g.218890050C>T	ESP,ExAC,TOPMed,gnomAD
rs750440247	p.Gly152Asp	missense variant	-	NC_000002.12:g.218890062G>A	ExAC,gnomAD
rs148187600	p.Leu154Met	missense variant	-	NC_000002.12:g.218890067C>A	ESP,ExAC,TOPMed,gnomAD
rs780033157	p.Lys155Glu	missense variant	-	NC_000002.12:g.218890070A>G	ExAC,TOPMed,gnomAD
rs375819091	p.Ala156Ser	missense variant	-	NC_000002.12:g.218890073G>T	ESP,ExAC,TOPMed,gnomAD
rs375819091	p.Ala156Thr	missense variant	-	NC_000002.12:g.218890073G>A	ESP,ExAC,TOPMed,gnomAD
rs375819091	p.Ala156Pro	missense variant	-	NC_000002.12:g.218890073G>C	ESP,ExAC,TOPMed,gnomAD
COSM719948	p.Gly158Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218890080G>T	NCI-TCGA Cosmic
rs771680898	p.Gly158Asp	missense variant	-	NC_000002.12:g.218890080G>A	ExAC,gnomAD
rs1450863492	p.Cys159Tyr	missense variant	-	NC_000002.12:g.218890083G>A	gnomAD
rs80153590	p.Asp160Val	missense variant	-	NC_000002.12:g.218890086A>T	gnomAD
rs80153590	p.Asp160Gly	missense variant	-	NC_000002.12:g.218890086A>G	gnomAD
rs777252016	p.Ala161Val	missense variant	-	NC_000002.12:g.218890089C>T	ExAC,TOPMed,gnomAD
RCV000172902	p.Arg163Trp	missense variant	Exstrophy-epispadias complex (BEEC)	NC_000002.12:g.218890094C>T	ClinVar
RCV000522644	p.Arg163Trp	missense variant	-	NC_000002.12:g.218890094C>T	ClinVar
rs368280129	p.Arg163Trp	missense variant	-	NC_000002.12:g.218890094C>T	ESP,ExAC,TOPMed,gnomAD
rs368280129	p.Arg163Trp	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890094C>T	UniProt,dbSNP
VAR_069172	p.Arg163Trp	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890094C>T	UniProt
rs368280129	p.Arg163Gly	missense variant	-	NC_000002.12:g.218890094C>G	ESP,ExAC,TOPMed,gnomAD
rs201178499	p.Arg163Gln	missense variant	-	NC_000002.12:g.218890095G>A	ESP,TOPMed,gnomAD
rs150744644	p.Arg164Gln	missense variant	-	NC_000002.12:g.218890098G>A	ESP,ExAC,TOPMed,gnomAD
rs150744644	p.Arg164Pro	missense variant	-	NC_000002.12:g.218890098G>C	ESP,ExAC,TOPMed,gnomAD
rs561173643	p.Arg164Ter	stop gained	-	NC_000002.12:g.218890097C>T	1000Genomes
rs77583146	p.Gly165Arg	missense variant	-	NC_000002.12:g.218890100G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000535680	p.Gly165Arg	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890100G>A	ClinVar
rs143463683	p.Asp166Glu	missense variant	-	NC_000002.12:g.218890105C>A	ESP,ExAC,TOPMed,gnomAD
rs148714379	p.Glu167Gln	missense variant	-	NC_000002.12:g.218890106G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148714379	p.Glu167Lys	missense variant	-	NC_000002.12:g.218890106G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu168Ter	stop gained	-	NC_000002.12:g.218890109G>T	NCI-TCGA
rs766368714	p.Phe170Leu	missense variant	-	NC_000002.12:g.218890115T>C	ExAC,gnomAD
rs199737793	p.Arg171His	missense variant	-	NC_000002.12:g.218890119G>A	ExAC,TOPMed,gnomAD
rs116998555	p.Arg171Cys	missense variant	-	NC_000002.12:g.218890118C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199737793	p.Arg171Leu	missense variant	-	NC_000002.12:g.218890119G>T	ExAC,TOPMed,gnomAD
rs116998555	p.Arg171Ser	missense variant	-	NC_000002.12:g.218890118C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000255246	p.Arg171Cys	missense variant	-	NC_000002.12:g.218890118C>T	ClinVar
rs145641272	p.Arg172Trp	missense variant	-	NC_000002.12:g.218890121A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758023820	p.Lys173Asn	missense variant	-	NC_000002.12:g.218890126G>T	ExAC,gnomAD
rs777307167	p.Leu174Pro	missense variant	-	NC_000002.12:g.218890128T>C	ExAC,gnomAD
rs1465812643	p.His175Tyr	missense variant	-	NC_000002.12:g.218890130C>T	gnomAD
rs757786591	p.Arg176His	missense variant	-	NC_000002.12:g.218890134G>A	ExAC,TOPMed,gnomAD
rs754010310	p.Arg176Cys	missense variant	-	NC_000002.12:g.218890133C>T	ExAC,TOPMed,gnomAD
rs1469075360	p.Leu182Arg	missense variant	-	NC_000002.12:g.218890152T>G	TOPMed
RCV000273430	p.Arg184His	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218890158G>A	ClinVar
RCV000314527	p.Arg184His	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890158G>A	ClinVar
rs372756514	p.Arg184His	missense variant	-	NC_000002.12:g.218890158G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000367917	p.Arg184His	missense variant	-	NC_000002.12:g.218890158G>A	ClinVar
rs372756514	p.Arg184Pro	missense variant	-	NC_000002.12:g.218890158G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs547204429	p.Arg184Cys	missense variant	-	NC_000002.12:g.218890157C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1458852116	p.Gly185Ala	missense variant	-	NC_000002.12:g.218890161G>C	TOPMed,gnomAD
COSM3991073	p.Gly185Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218890161G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys186Asn	missense variant	-	NC_000002.12:g.218890165G>T	NCI-TCGA
rs774591921	p.Gly187Asp	missense variant	-	NC_000002.12:g.218890167G>A	ExAC,gnomAD
rs774591921	p.Gly187Val	missense variant	-	NC_000002.12:g.218890167G>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu188Met	missense variant	-	NC_000002.12:g.218890169C>A	NCI-TCGA
rs1304878664	p.Leu188Arg	missense variant	-	NC_000002.12:g.218890170T>G	gnomAD
rs1238996525	p.Ser189Arg	missense variant	-	NC_000002.12:g.218890174C>A	TOPMed
rs1313500684	p.Ser189Asn	missense variant	-	NC_000002.12:g.218890173G>A	gnomAD
rs766421951	p.His190Arg	missense variant	-	NC_000002.12:g.218890176A>G	ExAC,TOPMed,gnomAD
rs757501987	p.Gly191Ala	missense variant	-	NC_000002.12:g.218890179G>C	ExAC,gnomAD
rs1331876781	p.Val192Asp	missense variant	-	NC_000002.12:g.218890182T>A	gnomAD
rs765128645	p.Pro193Leu	missense variant	-	NC_000002.12:g.218890185C>T	ExAC,gnomAD
rs765128645	p.Pro193Arg	missense variant	-	NC_000002.12:g.218890185C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro193Ser	missense variant	-	NC_000002.12:g.218890184C>T	NCI-TCGA
rs1211787387	p.His195Gln	missense variant	-	NC_000002.12:g.218890192C>G	gnomAD
rs976032535	p.Pro196Ser	missense variant	-	NC_000002.12:g.218890193C>T	TOPMed,gnomAD
rs1480150631	p.Pro196Gln	missense variant	-	NC_000002.12:g.218890194C>A	gnomAD
rs763690954	p.Ala197Thr	missense variant	-	NC_000002.12:g.218890196G>A	ExAC,TOPMed,gnomAD
rs763690954	p.Ala197Pro	missense variant	-	NC_000002.12:g.218890196G>C	ExAC,TOPMed,gnomAD
rs1451725884	p.Pro199Leu	missense variant	-	NC_000002.12:g.218890203C>T	TOPMed
NCI-TCGA novel	p.Thr200Ile	missense variant	-	NC_000002.12:g.218890206C>T	NCI-TCGA
NCI-TCGA novel	p.Ala201Ser	missense variant	-	NC_000002.12:g.218890208G>T	NCI-TCGA
rs780566013	p.Ser202Asn	missense variant	-	NC_000002.12:g.218890212G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser202Gly	missense variant	-	NC_000002.12:g.218890211A>G	NCI-TCGA
rs1428675922	p.Ser202Arg	missense variant	-	NC_000002.12:g.218890213C>G	gnomAD
rs1060499588	p.Gln206Ter	stop gained	-	NC_000002.12:g.218890223C>T	-
RCV000477883	p.Gln206Ter	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890223C>T	ClinVar
rs1178430575	p.Asp207His	missense variant	-	NC_000002.12:g.218890226G>C	TOPMed,gnomAD
rs756543596	p.Ser208Phe	missense variant	-	NC_000002.12:g.218890230C>T	ExAC,gnomAD
rs1359967443	p.Ser208Pro	missense variant	-	NC_000002.12:g.218890229T>C	TOPMed,gnomAD
rs1306584103	p.Trp209Ter	stop gained	-	NC_000002.12:g.218890234G>A	gnomAD
rs377503582	p.Glu210Asp	missense variant	-	NC_000002.12:g.218890237G>C	ESP,ExAC,gnomAD
rs1488019548	p.Trp211Ter	stop gained	-	NC_000002.12:g.218890240G>A	gnomAD
rs1156948793	p.Trp211Ter	stop gained	-	NC_000002.12:g.218890239G>A	TOPMed
RCV000845115	p.Gly213Ser	missense variant	-	NC_000002.12:g.218890244G>A	ClinVar
rs147680216	p.Gly213Ser	missense variant	Odonto-onycho-dermal dysplasia (OODD)	NC_000002.12:g.218890244G>A	UniProt,dbSNP
VAR_077450	p.Gly213Ser	missense variant	Odonto-onycho-dermal dysplasia (OODD)	NC_000002.12:g.218890244G>A	UniProt
rs147680216	p.Gly213Ser	missense variant	-	NC_000002.12:g.218890244G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774646988	p.Gly213Asp	missense variant	-	NC_000002.12:g.218890245G>A	ExAC,gnomAD
RCV000490390	p.Gly213Ser	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890244G>A	ClinVar
rs1278842223	p.Ser215Gly	missense variant	-	NC_000002.12:g.218890250A>G	gnomAD
rs1183210352	p.Pro216Ala	missense variant	-	NC_000002.12:g.218890253C>G	TOPMed
RCV000322248	p.Asp217Asn	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890256G>A	ClinVar
rs1057520655	p.Asp217Gly	missense variant	-	NC_000002.12:g.218890257A>G	gnomAD
rs146902156	p.Asp217Asn	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890256G>A	UniProt,dbSNP
VAR_069173	p.Asp217Asn	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890256G>A	UniProt
rs146902156	p.Asp217Asn	missense variant	-	NC_000002.12:g.218890256G>A	ESP,ExAC,TOPMed,gnomAD
RCV000431228	p.Asp217Gly	missense variant	-	NC_000002.12:g.218890257A>G	ClinVar
RCV000385003	p.Asp217Asn	missense variant	-	NC_000002.12:g.218890256G>A	ClinVar
RCV000271824	p.Asp217Asn	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218890256G>A	ClinVar
RCV000376761	p.Met218Val	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218890259A>G	ClinVar
rs947829246	p.Met218Ile	missense variant	-	NC_000002.12:g.218890261G>A	TOPMed
rs759559158	p.Met218Thr	missense variant	-	NC_000002.12:g.218890260T>C	ExAC,gnomAD
rs373991357	p.Met218Val	missense variant	-	NC_000002.12:g.218890259A>G	ESP,ExAC,TOPMed,gnomAD
rs373991357	p.Met218Leu	missense variant	-	NC_000002.12:g.218890259A>C	ESP,ExAC,TOPMed,gnomAD
RCV000287049	p.Met218Val	missense variant	-	NC_000002.12:g.218890259A>G	ClinVar
RCV000341862	p.Met218Val	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890259A>G	ClinVar
rs1198581727	p.Gly219Asp	missense variant	-	NC_000002.12:g.218890263G>A	gnomAD
rs373870453	p.Gly221Val	missense variant	-	NC_000002.12:g.218890269G>T	ESP,ExAC,TOPMed,gnomAD
rs775380022	p.Gly221Arg	missense variant	-	NC_000002.12:g.218890268G>A	ExAC,gnomAD
RCV000489933	p.Gly221Arg	missense variant	-	NC_000002.12:g.218890268G>A	ClinVar
rs377416834	p.Glu222Ter	stop gained	-	NC_000002.12:g.218890271G>T	ESP,ExAC,TOPMed,gnomAD
rs149245953	p.Arg223Ser	missense variant	-	NC_000002.12:g.218890274C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000528997	p.Arg223Cys	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890274C>T	ClinVar
RCV000415098	p.Arg223Cys	missense variant	-	NC_000002.12:g.218890274C>T	ClinVar
rs143424659	p.Arg223His	missense variant	-	NC_000002.12:g.218890275G>A	ESP,ExAC,TOPMed,gnomAD
COSM6157043	p.Arg223Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218890275G>T	NCI-TCGA Cosmic
rs149245953	p.Arg223Cys	missense variant	-	NC_000002.12:g.218890274C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749857233	p.Phe224Leu	missense variant	-	NC_000002.12:g.218890277T>C	ExAC,TOPMed,gnomAD
rs1348678344	p.Lys226Asn	missense variant	-	NC_000002.12:g.218890285G>T	gnomAD
rs1303006218	p.Lys226Glu	missense variant	-	NC_000002.12:g.218890283A>G	gnomAD
rs121908120	p.Phe228Ile	missense variant	-	NC_000002.12:g.218890289T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs121908120	p.Phe228Ile	missense variant	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218890289T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs121908120	p.Phe228Ile	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890289T>A	UniProt,dbSNP
VAR_062511	p.Phe228Ile	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218890289T>A	UniProt
RCV000550721	p.Phe228Ile	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890289T>A	ClinVar
rs1274904666	p.Leu229Arg	missense variant	-	NC_000002.12:g.218890293T>G	gnomAD
rs780365309	p.Asp230Gly	missense variant	-	NC_000002.12:g.218890296A>G	ExAC,gnomAD
rs754257075	p.Asp230Glu	missense variant	-	NC_000002.12:g.218890297C>A	ExAC,TOPMed
rs755459738	p.Ser231Cys	missense variant	-	NC_000002.12:g.218890299C>G	ExAC,gnomAD
rs193098360	p.Arg232Gly	missense variant	-	NC_000002.12:g.218890301C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs772154760	p.Arg232Gln	missense variant	-	NC_000002.12:g.218890302G>A	ExAC,TOPMed,gnomAD
rs193098360	p.Arg232Trp	missense variant	-	NC_000002.12:g.218890301C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs121908118	p.Glu233Ter	stop gained	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218890304G>T	ExAC,TOPMed,gnomAD
RCV000004714	p.Glu233Ter	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890304G>T	ClinVar
rs121908118	p.Glu233Lys	missense variant	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218890304G>A	ExAC,TOPMed,gnomAD
rs769786368	p.Pro234His	missense variant	-	NC_000002.12:g.218890308C>A	ExAC,gnomAD
rs775342902	p.His235Tyr	missense variant	-	NC_000002.12:g.218890310C>T	ExAC,TOPMed,gnomAD
rs141891304	p.Ile238Val	missense variant	-	NC_000002.12:g.218890319A>G	ESP,ExAC,TOPMed,gnomAD
rs141891304	p.Ile238Leu	missense variant	-	NC_000002.12:g.218890319A>C	ESP,ExAC,TOPMed,gnomAD
rs1416436905	p.His239Asn	missense variant	-	NC_000002.12:g.218890322C>A	TOPMed
rs201578578	p.Ala240Gly	missense variant	-	NC_000002.12:g.218890326C>G	ESP,ExAC,TOPMed,gnomAD
rs201578578	p.Ala240Val	missense variant	-	NC_000002.12:g.218890326C>T	ESP,ExAC,TOPMed,gnomAD
rs1386859394	p.Ala240Thr	missense variant	-	NC_000002.12:g.218890325G>A	TOPMed,gnomAD
rs201578578	p.Ala240Glu	missense variant	-	NC_000002.12:g.218890326C>A	ESP,ExAC,TOPMed,gnomAD
rs1386859394	p.Ala240Ser	missense variant	-	NC_000002.12:g.218890325G>T	TOPMed,gnomAD
RCV000624049	p.Met242Arg	missense variant	Inborn genetic diseases	NC_000002.12:g.218890332T>G	ClinVar
rs760035759	p.Met242Val	missense variant	-	NC_000002.12:g.218890331A>G	ExAC,gnomAD
rs370462053	p.Met242Lys	missense variant	-	NC_000002.12:g.218890332T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755520030	p.Met242Ile	missense variant	-	NC_000002.12:g.218890333G>A	ExAC,gnomAD
rs370462053	p.Met242Thr	missense variant	-	NC_000002.12:g.218890332T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370462053	p.Met242Arg	missense variant	-	NC_000002.12:g.218890332T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1221314738	p.Arg243Lys	missense variant	-	NC_000002.12:g.218890335G>A	TOPMed
rs779460628	p.Leu244Phe	missense variant	-	NC_000002.12:g.218890337C>T	ExAC
rs1356893468	p.His245Tyr	missense variant	-	NC_000002.12:g.218890340C>T	TOPMed
rs758670077	p.His245Arg	missense variant	-	NC_000002.12:g.218890341A>G	ExAC,gnomAD
rs374494971	p.Asn246Ser	missense variant	-	NC_000002.12:g.218890344A>G	ESP,TOPMed
rs1432279078	p.Asn246Asp	missense variant	-	NC_000002.12:g.218890343A>G	gnomAD
RCV000677100	p.Arg248Ter	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890349C>T	ClinVar
rs747119693	p.Arg248Gln	missense variant	-	NC_000002.12:g.218890350G>A	ExAC,TOPMed,gnomAD
RCV000254848	p.Arg248Ter	nonsense	-	NC_000002.12:g.218890349C>T	ClinVar
RCV000823047	p.Arg248Ter	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218890349C>T	ClinVar
rs886039453	p.Arg248Ter	stop gained	-	NC_000002.12:g.218890349C>T	TOPMed,gnomAD
rs781239708	p.Val249Ala	missense variant	-	NC_000002.12:g.218890353T>C	ExAC,TOPMed,gnomAD
rs770985751	p.Val249Ile	missense variant	-	NC_000002.12:g.218890352G>A	ExAC,TOPMed,gnomAD
rs200387103	p.Gly250Arg	missense variant	-	NC_000002.12:g.218890355G>C	1000Genomes
rs749277120	p.Arg251Gly	missense variant	-	NC_000002.12:g.218890358A>G	ExAC,gnomAD
rs1414775738	p.Ala253Val	missense variant	-	NC_000002.12:g.218892775C>T	TOPMed,gnomAD
rs1348446220	p.Met255Ile	missense variant	-	NC_000002.12:g.218892782G>A	gnomAD
rs1307156648	p.Met255Lys	missense variant	-	NC_000002.12:g.218892781T>A	gnomAD
rs1324380921	p.Glu256Gly	missense variant	-	NC_000002.12:g.218892784A>G	TOPMed
rs576855744	p.Arg259Trp	missense variant	-	NC_000002.12:g.218892792C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1351117506	p.Arg259Gln	missense variant	-	NC_000002.12:g.218892793G>A	gnomAD
rs541050654	p.Arg260Gln	missense variant	-	NC_000002.12:g.218892796G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1323826587	p.Lys261Arg	missense variant	-	NC_000002.12:g.218892799A>G	TOPMed
rs991095247	p.Lys263Asn	missense variant	-	NC_000002.12:g.218892806G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Cys264Gly	missense variant	-	NC_000002.12:g.218892807T>G	NCI-TCGA
NCI-TCGA novel	p.Cys264Tyr	missense variant	-	NC_000002.12:g.218892808G>A	NCI-TCGA
rs778752861	p.Gly266Ser	missense variant	-	NC_000002.12:g.218892813G>A	ExAC,TOPMed,gnomAD
rs778752861	p.Gly266Ser	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218892813G>A	UniProt,dbSNP
VAR_077452	p.Gly266Ser	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218892813G>A	UniProt
VAR_077451	p.Gly266Cys	Missense	Schopf-Schulz-Passarge syndrome (SSPS) [MIM:224750]	-	UniProt
rs1253174379	p.Ser268Pro	missense variant	-	NC_000002.12:g.218892819T>C	gnomAD
rs886039454	p.Ser268Ter	stop gained	-	NC_000002.12:g.218892820C>G	gnomAD
RCV000255393	p.Ser268Ter	nonsense	-	NC_000002.12:g.218892820C>G	ClinVar
rs1378909303	p.Ser270Arg	missense variant	-	NC_000002.12:g.218892827C>A	gnomAD
rs1196164395	p.Ser270Cys	missense variant	-	NC_000002.12:g.218892825A>T	gnomAD
rs924058194	p.Gln272His	missense variant	-	NC_000002.12:g.218892833G>C	TOPMed,gnomAD
rs773036759	p.Gln272Ter	stop gained	-	NC_000002.12:g.218892831C>T	ExAC,gnomAD
rs111903177	p.Leu273Phe	missense variant	-	NC_000002.12:g.218892834C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs111903177	p.Leu273Ile	missense variant	-	NC_000002.12:g.218892834C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000358737	p.Leu273Ile	missense variant	-	NC_000002.12:g.218892834C>A	ClinVar
RCV000539438	p.Leu273Ile	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892834C>A	ClinVar
RCV000309072	p.Leu273Ile	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892834C>A	ClinVar
RCV000272729	p.Leu273Ile	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218892834C>A	ClinVar
rs770667769	p.Lys274Gln	missense variant	-	NC_000002.12:g.218892837A>C	ExAC,TOPMed,gnomAD
rs1386231185	p.Thr275Met	missense variant	-	NC_000002.12:g.218892841C>T	gnomAD
rs1011303295	p.Cys276Arg	missense variant	-	NC_000002.12:g.218892843T>C	gnomAD
rs201593552	p.Cys276Phe	missense variant	-	NC_000002.12:g.218892844G>T	1000Genomes
RCV000677102	p.Cys276Ser	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892843T>A	ClinVar
rs1011303295	p.Cys276Ser	missense variant	-	NC_000002.12:g.218892843T>A	gnomAD
rs1234227647	p.Trp277Cys	missense variant	-	NC_000002.12:g.218892848G>T	TOPMed,gnomAD
RCV000639738	p.Trp277Cys	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892848G>T	ClinVar
rs1332945612	p.Trp277Ter	stop gained	-	NC_000002.12:g.218892847G>A	gnomAD
rs1251472821	p.Gln278Leu	missense variant	-	NC_000002.12:g.218892850A>T	TOPMed
rs759060788	p.Val279Met	missense variant	-	NC_000002.12:g.218892852G>A	ExAC,gnomAD
rs1207783828	p.Thr280Met	missense variant	-	NC_000002.12:g.218892856C>T	gnomAD
RCV000378470	p.Thr280Ser	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218892855A>T	ClinVar
RCV000323835	p.Thr280Ser	missense variant	-	NC_000002.12:g.218892855A>T	ClinVar
rs1207783828	p.Thr280Lys	missense variant	-	NC_000002.12:g.218892856C>A	gnomAD
RCV000263980	p.Thr280Ser	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892855A>T	ClinVar
rs886055643	p.Thr280Ser	missense variant	-	NC_000002.12:g.218892855A>T	TOPMed,gnomAD
rs541715493	p.Pro281Thr	missense variant	-	NC_000002.12:g.218892858C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs541715493	p.Pro281Ala	missense variant	-	NC_000002.12:g.218892858C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000350216	p.Pro281Ala	missense variant	-	NC_000002.12:g.218892858C>G	ClinVar
RCV000260783	p.Pro281Thr	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892858C>A	ClinVar
RCV000280724	p.Pro281Ala	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892858C>G	ClinVar
RCV000386136	p.Pro281Ala	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218892858C>G	ClinVar
RCV000623795	p.Pro281Thr	missense variant	Inborn genetic diseases	NC_000002.12:g.218892858C>A	ClinVar
rs541715493	p.Pro281Ser	missense variant	-	NC_000002.12:g.218892858C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000315988	p.Pro281Thr	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218892858C>A	ClinVar
RCV000375200	p.Pro281Thr	missense variant	-	NC_000002.12:g.218892858C>A	ClinVar
COSM4091551	p.Glu282Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218892862A>T	NCI-TCGA Cosmic
rs764418826	p.Glu282Gly	missense variant	-	NC_000002.12:g.218892862A>G	ExAC,gnomAD
rs763506612	p.Glu282Lys	missense variant	-	NC_000002.12:g.218892861G>A	ExAC,gnomAD
rs1451736747	p.Arg284Cys	missense variant	-	NC_000002.12:g.218892867C>T	TOPMed,gnomAD
rs1187476681	p.Arg284His	missense variant	-	NC_000002.12:g.218892868G>A	gnomAD
rs751926200	p.Val286Met	missense variant	-	NC_000002.12:g.218892873G>A	ExAC,gnomAD
rs751926200	p.Val286Leu	missense variant	-	NC_000002.12:g.218892873G>T	ExAC,gnomAD
rs757439312	p.Ala288Thr	missense variant	-	NC_000002.12:g.218892879G>A	ExAC,TOPMed,gnomAD
rs1367724990	p.Ala288Val	missense variant	-	NC_000002.12:g.218892880C>T	gnomAD
rs1456297638	p.Arg291Cys	missense variant	-	NC_000002.12:g.218892888C>T	gnomAD
rs767665930	p.Ser292Gly	missense variant	-	NC_000002.12:g.218892891A>G	ExAC,TOPMed,gnomAD
rs563548971	p.Arg293Gly	missense variant	-	NC_000002.12:g.218892894C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs563548971	p.Arg293Cys	missense variant	-	NC_000002.12:g.218892894C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758566891	p.Phe294Leu	missense variant	-	NC_000002.12:g.218892897T>C	ExAC,gnomAD
rs758566891	p.Phe294Val	missense variant	-	NC_000002.12:g.218892897T>G	ExAC,gnomAD
rs1346671955	p.His295Leu	missense variant	-	NC_000002.12:g.218892901A>T	TOPMed
rs1296699152	p.Arg296His	missense variant	-	NC_000002.12:g.218892904G>A	gnomAD
rs1230956549	p.Arg296Cys	missense variant	-	NC_000002.12:g.218892903C>T	gnomAD
rs530717943	p.Ala297Thr	missense variant	-	NC_000002.12:g.218892906G>A	1000Genomes
rs758325341	p.Leu299Pro	missense variant	-	NC_000002.12:g.218892913T>C	ExAC,gnomAD
RCV000677101	p.Ile300Ter	frameshift	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892915_218892916del	ClinVar
rs777460453	p.Arg301Pro	missense variant	-	NC_000002.12:g.218892919G>C	ExAC,TOPMed,gnomAD
rs777460453	p.Arg301Gln	missense variant	-	NC_000002.12:g.218892919G>A	ExAC,TOPMed,gnomAD
RCV000686716	p.Pro302Ter	frameshift	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892920_218892923del	ClinVar
rs1207590627	p.Pro302Leu	missense variant	-	NC_000002.12:g.218892922C>T	gnomAD
rs1057306	p.Pro302Thr	missense variant	-	NC_000002.12:g.218892921C>A	UniProt,dbSNP
VAR_013239	p.Pro302Thr	missense variant	-	NC_000002.12:g.218892921C>A	UniProt
rs1057306	p.Pro302Thr	missense variant	-	NC_000002.12:g.218892921C>A	-
rs1465954434	p.His303Gln	missense variant	-	NC_000002.12:g.218892926C>A	gnomAD
RCV000639737	p.Asn304His	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892927A>C	ClinVar
rs1434390821	p.Asn304His	missense variant	-	NC_000002.12:g.218892927A>C	TOPMed
rs1188846817	p.Arg305Ser	missense variant	-	NC_000002.12:g.218892930C>A	TOPMed,gnomAD
rs1188846817	p.Arg305Cys	missense variant	-	NC_000002.12:g.218892930C>T	TOPMed,gnomAD
rs746769946	p.Arg305Leu	missense variant	-	NC_000002.12:g.218892931G>T	ExAC,TOPMed,gnomAD
rs746769946	p.Arg305His	missense variant	-	NC_000002.12:g.218892931G>A	ExAC,TOPMed,gnomAD
rs745513263	p.Asn306Lys	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218892935C>G	UniProt,dbSNP
VAR_069175	p.Asn306Lys	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218892935C>G	UniProt
rs745513263	p.Asn306Lys	missense variant	-	NC_000002.12:g.218892935C>G	ExAC,TOPMed,gnomAD
rs776357775	p.Asn306His	missense variant	-	NC_000002.12:g.218892933A>C	ExAC,gnomAD
RCV000351358	p.Asn306Lys	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218892935C>G	ClinVar
RCV000296501	p.Asn306Lys	missense variant	-	NC_000002.12:g.218892935C>G	ClinVar
RCV000390691	p.Asn306Lys	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892935C>G	ClinVar
rs775046543	p.Gly307Arg	missense variant	-	NC_000002.12:g.218892936G>C	ExAC,gnomAD
rs763413351	p.Gly308Cys	missense variant	-	NC_000002.12:g.218892939G>T	ExAC,TOPMed,gnomAD
rs763413351	p.Gly308Arg	missense variant	-	NC_000002.12:g.218892939G>C	ExAC,TOPMed,gnomAD
rs1461989045	p.Gln309Arg	missense variant	-	NC_000002.12:g.218892943A>G	TOPMed,gnomAD
rs1020451881	p.Gln309His	missense variant	-	NC_000002.12:g.218892944G>C	TOPMed,gnomAD
rs1386597388	p.Leu310Met	missense variant	-	NC_000002.12:g.218892945C>A	gnomAD
rs1002615813	p.Leu310Arg	missense variant	-	NC_000002.12:g.218892946T>G	TOPMed,gnomAD
rs1348248718	p.Glu311Asp	missense variant	-	NC_000002.12:g.218892950G>T	TOPMed
rs769153639	p.Glu311Gln	missense variant	-	NC_000002.12:g.218892948G>C	ExAC,TOPMed
rs368546071	p.Pro312Gln	missense variant	-	NC_000002.12:g.218892952C>A	TOPMed
rs1278921157	p.Pro312Thr	missense variant	-	NC_000002.12:g.218892951C>A	TOPMed
rs368546071	p.Pro312Leu	missense variant	-	NC_000002.12:g.218892952C>T	TOPMed
rs368546071	p.Pro312Arg	missense variant	-	NC_000002.12:g.218892952C>G	TOPMed
rs1378831137	p.Gly313Val	missense variant	-	NC_000002.12:g.218892955G>T	gnomAD
rs1018397067	p.Gly313Arg	missense variant	-	NC_000002.12:g.218892954G>C	TOPMed
rs1018397067	p.Gly313Cys	missense variant	-	NC_000002.12:g.218892954G>T	TOPMed
rs1336137106	p.Gly316Arg	missense variant	-	NC_000002.12:g.218892963G>A	TOPMed,gnomAD
rs1228372182	p.Ala317Thr	missense variant	-	NC_000002.12:g.218892966G>A	TOPMed,gnomAD
RCV000677103	p.Ala317Ter	frameshift	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218892966del	ClinVar
rs1228372182	p.Ala317Pro	missense variant	-	NC_000002.12:g.218892966G>C	TOPMed,gnomAD
rs1384636913	p.Pro318Ser	missense variant	-	NC_000002.12:g.218892969C>T	TOPMed
rs1157165664	p.Pro318His	missense variant	-	NC_000002.12:g.218892970C>A	TOPMed
rs1265655476	p.Ser319Thr	missense variant	-	NC_000002.12:g.218892972T>A	gnomAD
rs974508350	p.Pro320Arg	missense variant	-	NC_000002.12:g.218892976C>G	TOPMed,gnomAD
rs762111465	p.Ala321Ser	missense variant	-	NC_000002.12:g.218892978G>T	ExAC,gnomAD
rs1474562928	p.Gly323Ser	missense variant	-	NC_000002.12:g.218892984G>A	TOPMed
rs750712776	p.Pro325Thr	missense variant	-	NC_000002.12:g.218892990C>A	ExAC,gnomAD
rs1183405171	p.Pro325Leu	missense variant	-	NC_000002.12:g.218892991C>T	gnomAD
rs750712776	p.Pro325Ser	missense variant	-	NC_000002.12:g.218892990C>T	ExAC,gnomAD
rs1180513574	p.Gly326Ala	missense variant	-	NC_000002.12:g.218892994G>C	TOPMed,gnomAD
rs760857889	p.Gly326Trp	missense variant	-	NC_000002.12:g.218892993G>T	ExAC,gnomAD
RCV000332548	p.Arg329Ter	frameshift	-	NC_000002.12:g.218893002dup	ClinVar
rs777698250	p.Arg329Gln	missense variant	-	NC_000002.12:g.218893003G>A	ExAC,TOPMed,gnomAD
rs751323479	p.Arg330Gln	missense variant	-	NC_000002.12:g.218893006G>A	ExAC,gnomAD
rs751323479	p.Arg330Leu	missense variant	-	NC_000002.12:g.218893006G>T	ExAC,gnomAD
rs751323479	p.Arg330Pro	missense variant	-	NC_000002.12:g.218893006G>C	ExAC,gnomAD
rs757173906	p.Ala331Asp	missense variant	-	NC_000002.12:g.218893009C>A	ExAC,TOPMed,gnomAD
rs1378023533	p.Ala331Ser	missense variant	-	NC_000002.12:g.218893008G>T	gnomAD
rs781127466	p.Ala334Thr	missense variant	-	NC_000002.12:g.218893017G>A	ExAC,TOPMed,gnomAD
rs1464814673	p.Ala334Asp	missense variant	-	NC_000002.12:g.218893018C>A	gnomAD
rs545956598	p.Asp335His	missense variant	-	NC_000002.12:g.218893020G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs545956598	p.Asp335Asn	missense variant	-	NC_000002.12:g.218893020G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000288085	p.Asp335Asn	missense variant	-	NC_000002.12:g.218893020G>A	ClinVar
RCV000347757	p.Asp335Asn	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893020G>A	ClinVar
RCV000397812	p.Asp335Asn	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218893020G>A	ClinVar
rs769060275	p.Tyr338Cys	missense variant	-	NC_000002.12:g.218893030A>G	ExAC,gnomAD
rs772468324	p.Lys341Asn	missense variant	-	NC_000002.12:g.218893040G>C	ExAC,TOPMed,gnomAD
rs772468324	p.Lys341Asn	missense variant	-	NC_000002.12:g.218893040G>T	ExAC,TOPMed,gnomAD
rs1310054365	p.Asp344Glu	missense variant	-	NC_000002.12:g.218893049C>A	gnomAD
rs1553623335	p.Phe345Ser	missense variant	-	NC_000002.12:g.218893051T>C	-
RCV000559209	p.Phe345Ser	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893051T>C	ClinVar
rs1280777127	p.Cys346Arg	missense variant	-	NC_000002.12:g.218893053T>C	gnomAD
rs1482639912	p.Glu347Ala	missense variant	-	NC_000002.12:g.218893057A>C	gnomAD
rs978088338	p.Arg348Cys	missense variant	-	NC_000002.12:g.218893059C>T	gnomAD
rs927135213	p.Arg348His	missense variant	-	NC_000002.12:g.218893060G>A	TOPMed,gnomAD
rs978088338	p.Arg348Ser	missense variant	-	NC_000002.12:g.218893059C>A	gnomAD
rs927135213	p.Arg348Leu	missense variant	-	NC_000002.12:g.218893060G>T	TOPMed,gnomAD
rs1304489162	p.Glu349Lys	missense variant	-	NC_000002.12:g.218893062G>A	gnomAD
rs564146190	p.Pro350Leu	missense variant	-	NC_000002.12:g.218893066C>T	1000Genomes
RCV000260245	p.Pro350Leu	missense variant	-	NC_000002.12:g.218893066C>T	ClinVar
RCV000304817	p.Pro350Leu	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218893066C>T	ClinVar
RCV000355122	p.Pro350Leu	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893066C>T	ClinVar
rs759602106	p.Arg351Leu	missense variant	-	NC_000002.12:g.218893069G>T	ExAC,gnomAD
rs759602106	p.Arg351His	missense variant	-	NC_000002.12:g.218893069G>A	ExAC,gnomAD
rs753867150	p.Arg351Cys	missense variant	-	NC_000002.12:g.218893068C>T	ExAC,TOPMed,gnomAD
rs371998817	p.Asp353His	missense variant	-	NC_000002.12:g.218893074G>C	ESP,ExAC,TOPMed,gnomAD
rs757226964	p.Asp353Val	missense variant	-	NC_000002.12:g.218893075A>T	ExAC,gnomAD
rs371998817	p.Asp353Tyr	missense variant	-	NC_000002.12:g.218893074G>T	ESP,ExAC,TOPMed,gnomAD
RCV000273350	p.Ser354Leu	missense variant	-	NC_000002.12:g.218893078C>T	ClinVar
RCV000356293	p.Ser354Leu	missense variant	Schopf-Schulz-Passarge syndrome (SSPS)	NC_000002.12:g.218893078C>T	ClinVar
rs781178898	p.Ser354Leu	missense variant	-	NC_000002.12:g.218893078C>T	ExAC,TOPMed,gnomAD
RCV000320197	p.Ser354Leu	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893078C>T	ClinVar
rs1443627448	p.Ala355Val	missense variant	-	NC_000002.12:g.218893081C>T	gnomAD
NCI-TCGA novel	p.Gly356Val	missense variant	-	NC_000002.12:g.218893084G>T	NCI-TCGA
VAR_077453	p.Gly356Cys	Missense	Odonto-onycho-dermal dysplasia (OODD) [MIM:257980]	-	UniProt
rs750190755	p.Thr357Ile	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218893087C>T	UniProt,dbSNP
VAR_077454	p.Thr357Ile	missense variant	Tooth agenesis, selective, 4 (STHAG4)	NC_000002.12:g.218893087C>T	UniProt
rs750190755	p.Thr357Ile	missense variant	-	NC_000002.12:g.218893087C>T	ExAC,TOPMed,gnomAD
rs1308808698	p.Val358Leu	missense variant	-	NC_000002.12:g.218893089G>C	gnomAD
NCI-TCGA novel	p.Arg360Cys	missense variant	-	NC_000002.12:g.218893095C>T	NCI-TCGA
COSM6157042	p.Arg360Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218893095C>A	NCI-TCGA Cosmic
rs893127185	p.Arg360Leu	missense variant	-	NC_000002.12:g.218893096G>T	TOPMed,gnomAD
VAR_064839	p.Arg360Cys	Missense	-	-	UniProt
rs1268725013	p.Cys362Arg	missense variant	-	NC_000002.12:g.218893101T>C	TOPMed
RCV000498719	p.Cys362Arg	missense variant	-	NC_000002.12:g.218893101T>C	ClinVar
RCV000845114	p.Asn363His	missense variant	-	NC_000002.12:g.218893104A>C	ClinVar
rs34972707	p.Asn363His	missense variant	-	NC_000002.12:g.218893104A>C	ESP,ExAC,TOPMed,gnomAD
rs1332556693	p.Ser366Cys	missense variant	-	NC_000002.12:g.218893113A>T	TOPMed
rs1233970735	p.Gly368Ser	missense variant	-	NC_000002.12:g.218893119G>A	TOPMed
rs768281079	p.Ser369Leu	missense variant	-	NC_000002.12:g.218893123C>T	ExAC,TOPMed,gnomAD
rs768281079	p.Ser369Trp	missense variant	-	NC_000002.12:g.218893123C>G	ExAC,TOPMed,gnomAD
COSM3577824	p.Asp370Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.218893125G>A	NCI-TCGA Cosmic
rs1487577386	p.Cys372Arg	missense variant	-	NC_000002.12:g.218893131T>C	gnomAD
rs1487577386	p.Cys372Gly	missense variant	-	NC_000002.12:g.218893131T>G	gnomAD
rs772520906	p.Gly373Arg	missense variant	-	NC_000002.12:g.218893134G>C	ExAC,gnomAD
rs772520906	p.Gly373Ser	missense variant	-	NC_000002.12:g.218893134G>A	ExAC,gnomAD
rs1449194164	p.Ser374Asn	missense variant	-	NC_000002.12:g.218893138G>A	gnomAD
rs773598047	p.Met375Lys	missense variant	-	NC_000002.12:g.218893141T>A	ExAC
rs1167077564	p.Cys376Phe	missense variant	-	NC_000002.12:g.218893144G>T	gnomAD
rs121908122	p.Cys376Ter	stop gained	Odontoonychodermal dysplasia (oodd)	NC_000002.12:g.218893145C>A	-
rs1167077564	p.Cys376Ser	missense variant	-	NC_000002.12:g.218893144G>C	gnomAD
NCI-TCGA novel	p.Cys376Arg	missense variant	-	NC_000002.12:g.218893143T>C	NCI-TCGA
RCV000004719	p.Cys376Ter	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893145C>A	ClinVar
rs771071398	p.Gly378Asp	missense variant	-	NC_000002.12:g.218893150G>A	ExAC,gnomAD
rs1347556761	p.Arg379Cys	missense variant	-	NC_000002.12:g.218893152C>T	TOPMed,gnomAD
rs1326121645	p.His381Tyr	missense variant	-	NC_000002.12:g.218893158C>T	gnomAD
rs759671927	p.Asn382Lys	missense variant	-	NC_000002.12:g.218893163C>G	ExAC,gnomAD
rs1432508266	p.Asn382Ser	missense variant	-	NC_000002.12:g.218893162A>G	gnomAD
rs1339905158	p.Ile383Ser	missense variant	-	NC_000002.12:g.218893165T>G	gnomAD
rs1227659859	p.Leu384Gln	missense variant	-	NC_000002.12:g.218893168T>A	gnomAD
rs766438750	p.Arg385His	missense variant	-	NC_000002.12:g.218893171G>A	ExAC,TOPMed,gnomAD
rs775685826	p.Gln386Ter	stop gained	-	NC_000002.12:g.218893173C>T	ExAC,gnomAD
rs1215666473	p.Gln386Arg	missense variant	-	NC_000002.12:g.218893174A>G	gnomAD
rs761861061	p.Thr387Lys	missense variant	-	NC_000002.12:g.218893177C>A	ExAC,gnomAD
rs1186983054	p.Arg388Cys	missense variant	-	NC_000002.12:g.218893179C>T	gnomAD
rs1244180506	p.Arg388Leu	missense variant	-	NC_000002.12:g.218893180G>T	gnomAD
rs767517592	p.Ser389Arg	missense variant	-	NC_000002.12:g.218893184C>G	ExAC,gnomAD
rs1397288018	p.Ser389Asn	missense variant	-	NC_000002.12:g.218893183G>A	TOPMed
rs750260671	p.Glu390Lys	missense variant	-	NC_000002.12:g.218893185G>A	ExAC,gnomAD
RCV000429425	p.Glu390Ter	nonsense	-	NC_000002.12:g.218893185G>T	ClinVar
rs750260671	p.Glu390Ter	stop gained	-	NC_000002.12:g.218893185G>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu390Gln	missense variant	-	NC_000002.12:g.218893185G>C	NCI-TCGA
RCV000677099	p.Cys392Ter	nonsense	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893193C>A	ClinVar
rs1553623389	p.Cys392Ter	stop gained	-	NC_000002.12:g.218893193C>A	-
rs1412307290	p.Cys392Phe	missense variant	-	NC_000002.12:g.218893192G>T	gnomAD
rs1406554236	p.His393Pro	missense variant	-	NC_000002.12:g.218893195A>C	gnomAD
rs1164977987	p.Cys394Tyr	missense variant	-	NC_000002.12:g.218893198G>A	gnomAD
rs766086207	p.Arg395His	missense variant	-	NC_000002.12:g.218893201G>A	ExAC,TOPMed,gnomAD
rs561485190	p.Arg395Cys	missense variant	-	NC_000002.12:g.218893200C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766086207	p.Arg395Leu	missense variant	-	NC_000002.12:g.218893201G>T	ExAC,TOPMed,gnomAD
rs1282315503	p.Trp398Arg	missense variant	-	NC_000002.12:g.218893209T>C	gnomAD
rs1381228558	p.Trp398Ter	stop gained	-	NC_000002.12:g.218893211G>A	gnomAD
rs754567070	p.Cys404Ser	missense variant	-	NC_000002.12:g.218893227T>A	ExAC,gnomAD
RCV000537520	p.Cys404Trp	missense variant	Odontoonychodermal dysplasia (OODD)	NC_000002.12:g.218893229C>G	ClinVar
rs1553623396	p.Cys404Trp	missense variant	-	NC_000002.12:g.218893229C>G	-
rs1207000888	p.Glu406Lys	missense variant	-	NC_000002.12:g.218893233G>A	gnomAD
rs1447903396	p.Arg408Cys	missense variant	-	NC_000002.12:g.218893239C>T	gnomAD
rs1447903396	p.Arg408Ser	missense variant	-	NC_000002.12:g.218893239C>A	gnomAD
rs778417803	p.Thr410Asn	missense variant	-	NC_000002.12:g.218893246C>A	ExAC,TOPMed,gnomAD
rs778417803	p.Thr410Ile	missense variant	-	NC_000002.12:g.218893246C>T	ExAC,TOPMed,gnomAD
rs1236135596	p.Glu411Lys	missense variant	-	NC_000002.12:g.218893248G>A	TOPMed,gnomAD
rs747618485	p.Val413Ile	missense variant	-	NC_000002.12:g.218893254G>A	ExAC,TOPMed,gnomAD
rs1410563048	p.Ser414Asn	missense variant	-	NC_000002.12:g.218893258G>A	TOPMed,gnomAD
rs1085308031	p.Cys416Tyr	missense variant	-	NC_000002.12:g.218893264G>A	-
RCV000490252	p.Cys416Tyr	missense variant	-	NC_000002.12:g.218893264G>A	ClinVar
rs1412248276	p.Lys417Glu	missense variant	-	NC_000002.12:g.218893266A>G	gnomAD
rs1027367632	p.Ter418Arg	stop lost	-	NC_000002.12:g.218893269T>A	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000846	Agenesis	disease	BEFREE
C0002170	Alopecia	disease	HPO
C0006118	Brain Neoplasms	group	BEFREE
C0007117	Basal cell carcinoma	disease	HPO
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	HPO
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010709	Cyst	phenotype	BEFREE
C0013575	Ectodermal Dysplasia	disease	BEFREE;HPO;LHGDN
C0014859	Esophageal Neoplasms	group	BEFREE
C0015397	Disorder of eye	group	HPO
C0020608	Hypodontia	disease	BEFREE;HPO;ORPHANET
C0020620	Hypohidrosis	disease	HPO
C0020678	Hypotrichosis	disease	HPO
C0022578	Keratoconus	disease	BEFREE
C0022596	Palmoplantar Keratosis	disease	HPO
C0022658	Kidney Diseases	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025990	Micrognathism	disease	HPO
C0037286	Skin Neoplasms	group	BEFREE
C0037361	Smell Perception	phenotype	GWASDB
C0040427	Tooth Abnormalities	group	HPO
C0041834	Erythema	phenotype	HPO
C0080233	Tooth Loss	phenotype	BEFREE
C0085661	Onycholysis	disease	HPO
C0149937	Acute interstitial nephritis	disease	BEFREE
C0151650	Renal fibrosis	disease	BEFREE
C0151908	Dry skin	phenotype	HPO
C0152018	Esophageal carcinoma	disease	BEFREE
C0155964	Atrophy of tongue papillae	disease	HPO
C0162311	Androgenetic Alopecia	disease	GWASCAT
C0162359	Christ-Siemens-Touraine syndrome	disease	BEFREE
C0206664	Teratocarcinoma	disease	BEFREE
C0221270	Acanthosis	phenotype	HPO
C0235357	Hypoplasia of teeth	disease	HPO
C0239946	Fibrosis, Liver	disease	BEFREE
C0240310	Hypoplasia of the maxilla	disease	HPO
C0240340	Microdontia (disorder)	disease	HPO
C0259817	Xerosis	disease	HPO
C0263523	Micronychia (disorder)	phenotype	HPO
C0265998	ANONYCHIA	disease	HPO
C0266052	Precocious exfoliation of primary tooth	phenotype	HPO
C0266617	Congenital anomaly of face	group	BEFREE
C0277960	Dry hair	phenotype	HPO
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	disease	CTD_human;LHGDN
C0347129	Anal intraepithelial neoplasia	disease	BEFREE
C0399352	Developmental absence of tooth	disease	BEFREE
C0406702	Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive	disease	ORPHANET
C0423820	Ridged nails	phenotype	HPO
C0423823	Thin nails	phenotype	HPO
C0423867	Fine hair	phenotype	HPO
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0553721	Diminished sweating	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0751688	Malignant Squamous Cell Neoplasm	disease	HPO
C0751958	Lymphoma, Lymphocytic, Intermediate	disease	CTD_human
C0796093	Odontoonychodermal dysplasia	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C0858684	Facial telangiectasia	phenotype	HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1274743	Hyperhidrosis Palmaris Et Plantaris	disease	HPO
C1275074	Odonto-onycho-dermal dysplasia	disease	BEFREE;ORPHANET
C1527249	Colorectal Cancer	disease	BEFREE
C1706004	Anhydrotic Ectodermal Dysplasias	disease	BEFREE
C1834405	Nail dysplasia	disease	HPO
C1835492	TOOTH AGENESIS, SELECTIVE, 4 (disorder)	disease	CLINVAR;CTD_human;UNIPROT
C1835493	Succedaneous Teeth, Agenesis Of	disease	CTD_human;UNIPROT
C1837758	Bird-like facies	phenotype	HPO
C1837770	Sparse hair	phenotype	HPO
C1848765	Sparse/absent eyebrows	phenotype	HPO
C1857069	SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder)	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1860844	Thin, sparse hair	phenotype	HPO
C1862314	Basal cell nevus	disease	HPO
C2266639	Absence of eyebrow	phenotype	HPO
C2931488	Zlotogora-Ogur syndrome	disease	BEFREE
C3489529	Tooth Agenesis, Familial	disease	BEFREE
C3539920	ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	disease	BEFREE
C3541517	ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT	disease	BEFREE
C3551426	Dystrophic fingernails	phenotype	HPO
C3551430	Sparse or absent eyebrows	phenotype	HPO
C3839753	Abnormality of nail of toe	phenotype	HPO
C3887494	ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE	disease	BEFREE
C3888065	ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT	disease	BEFREE
C4021782	Abnormality of the fingernails	phenotype	HPO
C4021829	Narrow nail	phenotype	HPO
C4021956	Aplasia/Hypoplasia of the eyebrow	phenotype	HPO
C4024202	Reduced number of teeth	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4025060	Peg-shaped maxillary lateral incisors	phenotype	HPO
C4082243	Maxillary retrognathia	phenotype	HPO
C4082304	Oligodontia	disease	BEFREE;HPO;ORPHANET
C4083050	Tooth agenesis	phenotype	GWASCAT;HPO
C4280381	Smooth dorsum of tongue	phenotype	HPO
C4280382	Atrophy of lingual surface	phenotype	HPO
C4280383	Atrophy of dorsum of tongue	phenotype	HPO
C4280611	Decreased size of teeth	phenotype	HPO
C4280612	Decreased width of tooth	phenotype	HPO
C4280619	Missing more than six teeth	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4316870	Abnormality of the eye	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005109	frizzled binding	IBA
GO:0048018	receptor ligand activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001942	hair follicle development	IMP
GO:0010628	positive regulation of gene expression	IEA
GO:0014033	neural crest cell differentiation	IEA
GO:0016055	Wnt signaling pathway	IBA
GO:0016055	Wnt signaling pathway	TAS
GO:0030182	neuron differentiation	IBA
GO:0031069	hair follicle morphogenesis	IMP
GO:0042476	odontogenesis	IMP
GO:0042487	regulation of odontogenesis of dentin-containing tooth	IEA
GO:0043586	tongue development	IMP
GO:0043588	skin development	IMP
GO:0045165	cell fate commitment	IBA
GO:0048730	epidermis morphogenesis	IMP
GO:0048733	sebaceous gland development	IMP
GO:0060070	canonical Wnt signaling pathway	IDA
GO:0071560	cellular response to transforming growth factor beta stimulus	IEP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-195721	Signaling by WNT	TAS
R-HSA-195721	Signaling by WNT	IEA
R-HSA-3238698	WNT ligand biogenesis and trafficking	TAS
R-HSA-3238698	WNT ligand biogenesis and trafficking	IEA
R-HSA-372790	Signaling by GPCR	IEA
R-HSA-373080	Class B/2 (Secretin family receptors)	IEA
R-HSA-500792	GPCR ligand binding	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C006718	1,12-benzoperylene	1,12-benzoperylene results in decreased expression of WNT10A mRNA	26377693
C016780	11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of WNT10A gene	30521419
C006551	2-amino-2-methyl-1-propanol	2-amino-2-methyl-1-propanol results in increased expression of WNT10A mRNA	25088246
C496492	abrine	abrine results in increased expression of WNT10A mRNA	31054353
D020106	Acrylamide	Acrylamide results in increased expression of WNT10A mRNA	28959563
D001104	Arbutin	Arbutin results in decreased expression of WNT10A mRNA	17103032
D001151	Arsenic	Arsenic affects the expression of WNT10A mRNA	18414638
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to WNT10A promoter]	19654925
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of WNT10A mRNA	22610609
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of WNT10A promoter	30157460
C006780	bisphenol A	bisphenol A results in decreased expression of WNT10A mRNA	25181051; 31129395;
C018475	butyraldehyde	butyraldehyde results in increased expression of WNT10A mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of WNT10A mRNA	26472689
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of WNT10A mRNA	20478370
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of WNT10A protein	20478370
D002186	Cannabinoids	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which affects the methylation of WNT10A gene	30521419
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of WNT10A mRNA	20938992
D003471	Cuprizone	Cuprizone results in decreased expression of WNT10A mRNA	26577399
C107676	deguelin	deguelin results in increased expression of WNT10A mRNA	19861542
D003976	Diazinon	Diazinon results in increased methylation of WNT10A gene	22964155
D003976	Diazinon	Diazinon affects the expression of WNT10A mRNA	19130878
D003976	Diazinon	Diazinon results in decreased expression of WNT10A mRNA	18502319
D004041	Dietary Fats	Dietary Fats results in decreased expression of WNT10A mRNA	25016146
C472787	erucylphospho-N,N,N-trimethylpropylammonium	erucylphospho-N,N,N-trimethylpropylammonium results in decreased expression of WNT10A mRNA	29464035
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of WNT10A mRNA	30165855
D004958	Estradiol	ESR1 protein promotes the reaction [Estradiol results in increased expression of WNT10A mRNA]	25210133
D004958	Estradiol	Estradiol results in increased expression of WNT10A mRNA	25210133
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of WNT10A mRNA	17606305; 20227414;
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of WNT10A mRNA	23550701
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of WNT10A mRNA	23649840
D005492	Folic Acid	[Folic Acid co-treated with sodium arsenite] results in increased methylation of WNT10A mRNA	22959928
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of WNT10A mRNA	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of WNT10A mRNA	23649840
D019469	Indinavir	[Zidovudine co-treated with Lamivudine co-treated with Indinavir] results in increased expression of WNT10A mRNA	16931933
C011890	kojic acid	kojic acid results in decreased expression of WNT10A mRNA	16595896
D019259	Lamivudine	[Zidovudine co-treated with Lamivudine co-treated with Indinavir] results in increased expression of WNT10A mRNA	16931933
D019259	Lamivudine	[Zidovudine co-treated with Lamivudine co-treated with Saquinavir] results in increased expression of WNT10A mRNA	16931933
D008701	Methapyrilene	Methapyrilene results in increased methylation of WNT10A promoter	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of WNT10A mRNA	20938992
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of WNT10A mRNA	23649840
D009532	Nickel	Nickel results in decreased expression of WNT10A mRNA	19130878
D010936	Plant Extracts	Plant Extracts results in decreased expression of WNT10A mRNA	23557933
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of WNT10A mRNA	24780913
D000077185	Resveratrol	Resveratrol results in decreased expression of WNT10A mRNA	23224687
D019258	Saquinavir	[Zidovudine co-treated with Lamivudine co-treated with Saquinavir] results in increased expression of WNT10A mRNA	16931933
C017947	sodium arsenite	[Folic Acid co-treated with sodium arsenite] results in increased methylation of WNT10A mRNA	22959928
C087114	tebuconazole	tebuconazole results in decreased expression of WNT10A mRNA	30458266
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of WNT10A mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of WNT10A mRNA	17586704; 24928892;
D014118	Toxins, Biological	Toxins, Biological affects the expression of WNT10A mRNA	19682533
D014212	Tretinoin	Tretinoin results in decreased expression of WNT10A mRNA	23724009
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of WNT10A mRNA	19042947
D014414	Tungsten	Tungsten results in increased expression of WNT10A mRNA	30912803
D014635	Valproic Acid	Valproic Acid results in increased expression of WNT10A mRNA	23179753; 27188386;
D015215	Zidovudine	[Zidovudine co-treated with Lamivudine co-treated with Indinavir] results in increased expression of WNT10A mRNA	16931933
D015215	Zidovudine	[Zidovudine co-treated with Lamivudine co-treated with Saquinavir] results in increased expression of WNT10A mRNA	16931933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0038	Ectodermal dysplasia
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-1063	Hypotrichosis
KW-0449	Lipoprotein
KW-1007	Palmoplantar keratoderma
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0964	Secreted
KW-0732	Signal
KW-0879	Wnt signaling pathway

Interpro

InterPro ID	InterPro Term
IPR005817	Wnt
IPR013302	Wnt10
IPR043158	Wnt_C
IPR018161	Wnt_CS

PROSITE

PROSITE ID	PROSITE Term
PS00246	WNT1

Pfam

Pfam ID	Pfam Term
PF00110	wnt

Gene: WNT10A

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

Identified variants/mutations related to cleft phenotype

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