WDFY4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145479	GRCh38/hg38 10q11.21-11.23(chr10:42395201-50877059)x3	A1CF, AGAP10 +309 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 144977	GRCh38/hg38 10q11.21-21.1(chr10:42884294-52265317)x3	A1CF, AGAP10 +306 more	Copy number gain	See cases	GPathogenic
Select item 2498203	NC_000010.11:g.45704708_(49974954_50015268)del	AGAP4, AGAP6 +122 more	Deletion	10q11.22q11.23 deletion syndrome	GLikely pathogenic
Select item 154709	GRCh38/hg38 10q11.22-11.23(chr10:45710242-49929364)x1	AGAP10, AGAP4 +118 more	Copy number loss	See cases	GPathogenic
Select item 58543	GRCh38/hg38 10q11.22-11.23(chr10:45710242-50151325)x1	AGAP10, AGAP4 +125 more	Copy number loss	See cases	GPathogenic
Select item 146781	GRCh38/hg38 10q11.22-11.23(chr10:45710248-50021141)x1	AGAP10, AGAP4 +123 more	Copy number loss	See cases	GPathogenic
Select item 151967	GRCh38/hg38 10q11.22-11.23(chr10:45788078-50066466)x1	AGAP10, AGAP4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 148682	GRCh38/hg38 10q11.22-11.23(chr10:45810008-50066466)x1	AGAP10, AGAP4 +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 154220	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50035809)x3	AGAP10, AGAP6 +119 more	Copy number gain	See cases	GUncertain significance
Select item 150121	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 149971	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP9, ANTXRL +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 144985	GRCh38/hg38 10q11.22-11.23(chr10:45931517-49929364)x1	AGAP10, AGAP9 +114 more	Copy number loss	See cases	GPathogenic
Select item 58551	GRCh38/hg38 10q11.22-11.23(chr10:45931517-50655311)x1	AGAP6, AGAP9 +147 more	Copy number loss	See cases	GPathogenic
Select item 150503	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 58548	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1	AGAP9, ANTXRL +112 more	Copy number loss	See cases	GUncertain significance
Select item 57411	GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x3	AGAP9, ANTXRL +112 more	Copy number gain	See cases	GPathogenic
Select item 545135	Single allele	LOC130003791, LOC130003792 +109 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 148406	GRCh38/hg38 10q11.22-11.23(chr10:48084228-49929364)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 57577	GRCh38/hg38 10q11.22-11.23(chr10:48173631-49920071)x3	ARHGAP22, ARHGAP22-IT1 +65 more	Copy number gain	See cases	GUncertain significance
Select item 2375008	NM_001394531.1(WDFY4):c.59A>G (p.Asn20Ser)	WDFY4 (N20S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2546017	NM_001394531.1(WDFY4):c.193C>T (p.Arg65Cys)	WDFY4 (R65C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2216068	NM_001394531.1(WDFY4):c.194G>A (p.Arg65His)	WDFY4 (R65H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2618824	NM_001394531.1(WDFY4):c.295G>A (p.Val99Met)	WDFY4 (V99M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303546	NM_001394531.1(WDFY4):c.329C>T (p.Ala110Val)	WDFY4 (A110V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598021	NM_001394531.1(WDFY4):c.397G>A (p.Val133Met)	WDFY4 (V133M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2602362	NM_001394531.1(WDFY4):c.401A>T (p.Asp134Val)	WDFY4 (D134V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204527	NM_001394531.1(WDFY4):c.445G>A (p.Gly149Arg)	WDFY4 (G149R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359882	NM_001394531.1(WDFY4):c.461C>T (p.Thr154Met)	WDFY4 (T154M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615157	NM_001394531.1(WDFY4):c.497T>A (p.Leu166Gln)	WDFY4 (L166Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604573	NM_001394531.1(WDFY4):c.497T>G (p.Leu166Arg)	WDFY4 (L166R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288062	NM_001394531.1(WDFY4):c.506A>G (p.Gln169Arg)	WDFY4 (Q169R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515743	NM_001394531.1(WDFY4):c.532C>A (p.Pro178Thr)	WDFY4 (P178T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550831	NM_001394531.1(WDFY4):c.581T>C (p.Met194Thr)	WDFY4 (M194T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785317	NM_001394531.1(WDFY4):c.591+3G>A	WDFY4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2322608	NM_001394531.1(WDFY4):c.631G>C (p.Gly211Arg)	WDFY4 (G211R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617528	NM_001394531.1(WDFY4):c.637C>T (p.Leu213Phe)	WDFY4 (L213F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249689	NM_001394531.1(WDFY4):c.727G>C (p.Val243Leu)	WDFY4 (V243L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541364	NM_001394531.1(WDFY4):c.784A>G (p.Thr262Ala)	WDFY4 (T262A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530812	NM_001394531.1(WDFY4):c.823C>T (p.Leu275Phe)	WDFY4 (L275F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3045353	NM_001394531.1(WDFY4):c.827C>T (p.Thr276Met)	WDFY4 (T276M)	Single nucleotide variant (missense variant)	WDFY4-related condition	GLikely benign
Select item 3051079	NM_001394531.1(WDFY4):c.833C>G (p.Thr278Ser)	WDFY4 (T278S)	Single nucleotide variant (missense variant)	WDFY4-related condition	GLikely benign
Select item 1685212	NM_001394531.1(WDFY4):c.835C>T (p.Leu279Phe)	WDFY4 (L279F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292246	NM_001394531.1(WDFY4):c.856G>A (p.Glu286Lys)	WDFY4 (E286K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473915	NM_001394531.1(WDFY4):c.898C>T (p.Pro300Ser)	WDFY4 (P300S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593593	NM_001394531.1(WDFY4):c.908C>T (p.Ser303Leu)	WDFY4 (S303L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279236	NM_001394531.1(WDFY4):c.910G>T (p.Ala304Ser)	WDFY4 (A304S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404510	NM_001394531.1(WDFY4):c.993C>A (p.Ser331Arg)	WDFY4 (S331R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356468	NM_001394531.1(WDFY4):c.1110G>T (p.Lys370Asn)	WDFY4 (K370N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493983	NM_001394531.1(WDFY4):c.1312C>A (p.Pro438Thr)	WDFY4 (P438T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371229	NM_001394531.1(WDFY4):c.1322C>T (p.Pro441Leu)	WDFY4 (P441L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219356	NM_001394531.1(WDFY4):c.1450C>T (p.Leu484Phe)	WDFY4 (L484F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277771	NM_001394531.1(WDFY4):c.1513C>T (p.Arg505Trp)	WDFY4 (R505W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456251	NM_001394531.1(WDFY4):c.1525C>T (p.Leu509Phe)	WDFY4 (L509F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205981	NM_001394531.1(WDFY4):c.1552C>T (p.Arg518Trp)	WDFY4 (R518W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376184	NM_001394531.1(WDFY4):c.1591G>A (p.Val531Met)	WDFY4 (V531M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288789	NM_001394531.1(WDFY4):c.1598C>G (p.Thr533Ser)	WDFY4 (T533S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2328699	NM_001394531.1(WDFY4):c.1627C>T (p.Leu543Phe)	WDFY4 (L543F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686378	NM_001394531.1(WDFY4):c.1642C>A (p.Leu548Met)	WDFY4 (L548M)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2637221	NM_001394531.1(WDFY4):c.1702C>T (p.His568Tyr)	WDFY4 (H568Y)	Single nucleotide variant (missense variant)	WDFY4-related condition	GUncertain significance
Select item 2345080	NM_001394531.1(WDFY4):c.1726A>G (p.Ile576Val)	WDFY4 (I576V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527742	NM_001394531.1(WDFY4):c.1771T>G (p.Leu591Val)	WDFY4 (L591V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536926	NM_001394531.1(WDFY4):c.2030C>A (p.Thr677Asn)	WDFY4 (T677N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467394	NM_001394531.1(WDFY4):c.2068G>T (p.Ala690Ser)	WDFY4 (A690S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219805	NM_001394531.1(WDFY4):c.2072C>T (p.Ala691Val)	WDFY4 (A691V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408641	NM_001394531.1(WDFY4):c.2139G>T (p.Glu713Asp)	WDFY4 (E713D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467857	NM_001394531.1(WDFY4):c.2195G>A (p.Arg732His)	WDFY4 (R732H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2548506	NM_001394531.1(WDFY4):c.2209A>G (p.Thr737Ala)	WDFY4 (T737A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359605	NM_001394531.1(WDFY4):c.2276G>A (p.Arg759Gln)	WDFY4 (R759Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248859	NM_001394531.1(WDFY4):c.2302G>A (p.Gly768Ser)	WDFY4 (G768S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2412446	NM_001394531.1(WDFY4):c.2303G>C (p.Gly768Ala)	WDFY4 (G768A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224103	NM_001394531.1(WDFY4):c.2341C>T (p.Arg781Cys)	WDFY4 (R781C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457413	NM_001394531.1(WDFY4):c.2425C>T (p.Arg809Cys)	WDFY4 (R809C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782768	NM_001394531.1(WDFY4):c.2553+7G>A	WDFY4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2628545	NM_001394531.1(WDFY4):c.2620C>T (p.Arg874Cys)	WDFY4 (R874C)	Single nucleotide variant (missense variant)	WDFY4-related condition	GUncertain significance
Select item 2304628	NM_001394531.1(WDFY4):c.2689A>C (p.Ser897Arg)	WDFY4 (S897R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 781197	NM_001394531.1(WDFY4):c.2700C>T (p.Pro900=)	WDFY4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2250524	NM_001394531.1(WDFY4):c.2756C>T (p.Pro919Leu)	WDFY4 (P919L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 789030	NM_001394531.1(WDFY4):c.2831C>T (p.Ser944Phe)	WDFY4 (S944F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3045565	NM_001394531.1(WDFY4):c.2894_2902del (p.Gly965_Pro968delinsAla)	WDFY4	Deletion (inframe_indel)	WDFY4-related condition	GLikely benign
Select item 2338058	NM_001394531.1(WDFY4):c.2905G>A (p.Ala969Thr)	WDFY4 (A969T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778460	NM_001394531.1(WDFY4):c.2948C>T (p.Pro983Leu)	WDFY4 (P983L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2406865	NM_001394531.1(WDFY4):c.2984C>T (p.Ala995Val)	WDFY4 (A995V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367741	NM_001394531.1(WDFY4):c.2993C>T (p.Thr998Met)	WDFY4 (T998M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1686379	NM_001394531.1(WDFY4):c.3098+4T>G	WDFY4	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2507492	NM_001394531.1(WDFY4):c.3298G>A (p.Ala1100Thr)	WDFY4 (A1100T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334998	NM_001394531.1(WDFY4):c.3349G>A (p.Asp1117Asn)	WDFY4 (D1117N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289034	NM_001394531.1(WDFY4):c.3383A>G (p.Glu1128Gly)	WDFY4 (E1128G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556741	NM_001394531.1(WDFY4):c.3414G>T (p.Glu1138Asp)	WDFY4 (E1138D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342834	NM_001394531.1(WDFY4):c.3427C>G (p.Pro1143Ala)	WDFY4 (P1143A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532957	NM_001394531.1(WDFY4):c.3434C>A (p.Ala1145Glu)	WDFY4 (A1145E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352292	NM_001394531.1(WDFY4):c.3466C>G (p.Leu1156Val)	WDFY4 (L1156V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456875	NM_001394531.1(WDFY4):c.3560T>G (p.Val1187Gly)	WDFY4 (V1187G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533594	NM_001394531.1(WDFY4):c.3593C>T (p.Ala1198Val)	WDFY4 (A1198V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236515	NM_001394531.1(WDFY4):c.3628G>A (p.Ala1210Thr)	WDFY4 (A1210T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459481	NM_001394531.1(WDFY4):c.3638A>G (p.Asp1213Gly)	WDFY4 (D1213G)	Single nucleotide variant (missense variant)	WDFY4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2223469	NM_001394531.1(WDFY4):c.3652A>G (p.Ile1218Val)	WDFY4 (I1218V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463044	NM_001394531.1(WDFY4):c.3667G>C (p.Val1223Leu)	WDFY4 (V1223L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457414	NM_001394531.1(WDFY4):c.3715C>T (p.Leu1239Phe)	WDFY4 (L1239F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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