WNT4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 149011	GRCh38/hg38 1p36.12(chr1:21399130-22696747)x1	ALPL, C1QA +60 more	Copy number loss	See cases	GUncertain significance
Select item 2845887	NM_030761.5(WNT4):c.1047G>A (p.Thr349=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2049303	NM_030761.5(WNT4):c.1033G>A (p.Val345Met)	WNT4 (V345M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3050685	NM_030761.5(WNT4):c.1032C>T (p.Leu344=)	WNT4	Single nucleotide variant (synonymous variant)	WNT4-related disorder	GLikely benign
Select item 2466177	NM_030761.5(WNT4):c.1028G>A (p.Arg343Gln)	WNT4 (R343Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333499	NM_030761.5(WNT4):c.1016G>A (p.Arg339Gln)	WNT4 (R339Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2960645	NM_030761.5(WNT4):c.1011G>A (p.Lys337=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2478663	NM_030761.5(WNT4):c.1006G>A (p.Val336Ile)	WNT4 (V336I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1540679	NM_030761.5(WNT4):c.1005C>T (p.Phe335=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2729471	NM_030761.5(WNT4):c.957G>C (p.Gln319His)	WNT4 (Q319H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2155622	NM_030761.5(WNT4):c.954G>A (p.Ala318=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190732	NM_030761.5(WNT4):c.953C>T (p.Ala318Val)	WNT4 (A318V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2036125	NM_030761.5(WNT4):c.951G>A (p.Thr317=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 587509	NM_030761.5(WNT4):c.944T>G (p.Phe315Cys)	WNT4 (F315C)	Single nucleotide variant (missense variant)	Mullerian aplasia and hyperandrogenism +2 more	GUncertain significance
Select item 2722636	NM_030761.5(WNT4):c.940G>A (p.Gly314Ser)	WNT4 (G314S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048074	NM_030761.5(WNT4):c.939C>T (p.Arg313=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2438612	NM_030761.5(WNT4):c.938G>A (p.Arg313His)	WNT4 (R313H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050215	NM_030761.5(WNT4):c.912C>T (p.Asp304=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355718	NM_030761.5(WNT4):c.910G>A (p.Asp304Asn)	WNT4 (D304N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 772452	NM_030761.5(WNT4):c.909C>T (p.Ile303=)	WNT4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 767252	NM_030761.5(WNT4):c.897G>T (p.Thr299=)	WNT4	Single nucleotide variant (synonymous variant)	SERKAL syndrome +2 more	GLikely benign
Select item 1384544	NM_030761.5(WNT4):c.890A>C (p.Asn297Thr)	WNT4 (N297T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442019	NM_030761.5(WNT4):c.881G>A (p.Arg294His)	WNT4 (R294H)	Single nucleotide variant (missense variant)	Mullerian aplasia and hyperandrogenism	GUncertain significance
Select item 2819959	NM_030761.5(WNT4):c.875G>C (p.Arg292Thr)	WNT4 (R292T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2910066	NM_030761.5(WNT4):c.861C>T (p.Gly287=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528015	NM_030761.5(WNT4):c.859G>A (p.Gly287Ser)	WNT4 (G287S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190731	NM_030761.5(WNT4):c.857G>A (p.Ser286Asn)	WNT4 (S286N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337432	NM_030761.5(WNT4):c.854G>A (p.Arg285His)	WNT4 (R285H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1601524	NM_030761.5(WNT4):c.831C>T (p.Pro277=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2877393	NM_030761.5(WNT4):c.817T>C (p.Leu273=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3344584	NM_030761.5(WNT4):c.811G>C (p.Val271Leu)	WNT4 (V271L)	Single nucleotide variant (missense variant)	WNT4-related disorder	GUncertain significance
Select item 2043091	NM_030761.5(WNT4):c.801T>A (p.Asp267Glu)	WNT4 (D267E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2016324	NM_030761.5(WNT4):c.799G>A (p.Asp267Asn)	WNT4 (D267N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2317030	NM_030761.5(WNT4):c.766G>A (p.Val256Met)	WNT4 (V256M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 977103	NM_030761.5(WNT4):c.739C>T (p.Arg247Cys)	WNT4 (R247C)	Single nucleotide variant (missense variant)	SERKAL syndrome +1 more	GUncertain significance
Select item 2628841	NM_030761.5(WNT4):c.667G>A (p.Ala223Thr)	WNT4 (A223T)	Single nucleotide variant (missense variant)	WNT4-related disorder	GUncertain significance
Select item 2767468	NM_030761.5(WNT4):c.657G>A (p.Thr219=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 6308	NM_030761.5(WNT4):c.647A>G (p.Glu216Gly)	WNT4 (E216G)	Single nucleotide variant (missense variant)	Mullerian aplasia and hyperandrogenism	GPathogenic
Select item 3012437	NM_030761.5(WNT4):c.627C>T (p.His209=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720726	NM_030761.5(WNT4):c.600A>G (p.Thr200=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1273052	NM_030761.5(WNT4):c.589-138C>G	WNT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263499	NM_030761.5(WNT4):c.589-306T>C	WNT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285931	NM_030761.5(WNT4):c.588+181C>T	WNT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260134	NM_030761.5(WNT4):c.588+57_588+58dup	WNT4	Duplication (intron variant)	not provided	GBenign
Select item 1950246	NM_030761.5(WNT4):c.588+15C>A	WNT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867120	NM_030761.5(WNT4):c.588+3A>G	WNT4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3362761	NM_030761.5(WNT4):c.571_573del (p.Asn191del)	WNT4 (N191del)	Deletion	Mullerian aplasia and hyperandrogenism	GUncertain significance
Select item 1462392	NM_030761.5(WNT4):c.561C>A (p.Asn187Lys)	WNT4 (N187K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817004	NM_030761.5(WNT4):c.556A>G (p.Met186Val)	WNT4 (M186V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2848815	NM_030761.5(WNT4):c.540G>A (p.Ser180=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2557225	NM_030761.5(WNT4):c.539C>T (p.Ser180Leu)	WNT4 (S180L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 707447	NM_030761.5(WNT4):c.483C>T (p.Tyr161=)	WNT4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 707034	NM_030761.5(WNT4):c.471C>T (p.Asp157=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1539956	NM_030761.5(WNT4):c.443A>G (p.Gln148Arg)	WNT4 (Q148R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2169382	NM_030761.5(WNT4):c.396G>A (p.Glu132=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814335	NM_030761.5(WNT4):c.383G>A (p.Cys128Tyr)	WNT4 (C128Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591945	NM_030761.5(WNT4):c.346T>C (p.Ser116Pro)	WNT4 (S116P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864644	NM_030761.5(WNT4):c.344T>C (p.Ile115Thr)	WNT4 (I115T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6309	NM_030761.5(WNT4):c.341C>T (p.Ala114Val)	WNT4 (A114V)	Single nucleotide variant (missense variant)	SERKAL syndrome	GPathogenic
Select item 2082987	NM_030761.5(WNT4):c.339C>T (p.Tyr113=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737671	NM_030761.5(WNT4):c.321G>A (p.Arg107=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2420265	NM_030761.5(WNT4):c.320G>A (p.Arg107Gln)	WNT4 (R107Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2053728	NM_030761.5(WNT4):c.314-9C>T	WNT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231858	NM_030761.5(WNT4):c.314-148G>A	WNT4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2045248	NM_030761.5(WNT4):c.313+18G>A	WNT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2719209	NM_030761.5(WNT4):c.313+10G>T	WNT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2283057	NM_030761.5(WNT4):c.295G>A (p.Gly99Ser)	WNT4 (G99S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1416745	NM_030761.5(WNT4):c.289G>A (p.Val97Ile)	WNT4 (V97I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2731317	NM_030761.5(WNT4):c.288C>T (p.Pro96=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1483909	NM_030761.5(WNT4):c.278A>T (p.Asp93Val)	WNT4 (D93V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2144157	NM_030761.5(WNT4):c.277G>A (p.Asp93Asn)	WNT4 (D93N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 772252	NM_030761.5(WNT4):c.276C>T (p.Leu92=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718389	NM_030761.5(WNT4):c.276C>G (p.Leu92=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3190730	NM_030761.5(WNT4):c.248G>A (p.Arg83Gln)	WNT4 (R83Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 6310	NM_030761.5(WNT4):c.247C>T (p.Arg83Trp)	WNT4 (R83W)	Single nucleotide variant (missense variant)	Mullerian aplasia and hyperandrogenism	GPathogenic
Select item 1971047	NM_030761.5(WNT4):c.238T>C (p.Tyr80His)	WNT4 (Y80H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2630822	NM_030761.5(WNT4):c.203G>A (p.Arg68His)	WNT4 (R68H)	Single nucleotide variant (missense variant)	WNT4-related disorder	GUncertain significance
Select item 2062489	NM_030761.5(WNT4):c.198G>A (p.Ser66=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739145	NM_030761.5(WNT4):c.176G>A (p.Arg59Gln)	WNT4 (R59Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578570	NM_030761.5(WNT4):c.164A>C (p.Gln55Pro)	WNT4 (Q55P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2785066	NM_030761.5(WNT4):c.128G>A (p.Cys43Tyr)	WNT4 (C43Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061199	NM_030761.5(WNT4):c.126G>C (p.Thr42=)	WNT4	Single nucleotide variant (synonymous variant)	WNT4-related disorder	GLikely benign
Select item 2382102	NM_030761.5(WNT4):c.118G>C (p.Glu40Gln)	WNT4 (E40Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2982173	NM_030761.5(WNT4):c.117G>A (p.Glu39=)	WNT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 767291	NM_030761.5(WNT4):c.96G>A (p.Ser32=)	WNT4	Single nucleotide variant (synonymous variant)	SERKAL syndrome +2 more	GLikely benign
Select item 1580129	NM_030761.5(WNT4):c.78-12C>A	WNT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856321	NM_030761.5(WNT4):c.78-18G>A	WNT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795820	NM_030761.5(WNT4):c.77+19G>A	WNT4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2727879	NM_030761.5(WNT4):c.77+16del	WNT4	Deletion (intron variant)	not provided	GBenign
Select item 6311	NM_030761.5(WNT4):c.35T>C (p.Leu12Pro)	WNT4 (L12P)	Single nucleotide variant (missense variant)	Mullerian aplasia and hyperandrogenism	GPathogenic
Select item 2522298	NM_030761.5(WNT4):c.25T>G (p.Ser9Ala)	WNT4 (S9A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029272	NM_030761.5(WNT4):c.-9_-8dup	WNT4	Duplication (5 prime UTR variant)	WNT4-related disorder	GLikely benign
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980388	GRCh37/hg19 1p36.12(chr1:22396372-22763532)x3	CDC42, WNT4	Copy number gain	not provided	GUncertain significance

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