ClinVar for Gene (Select 80232) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381386	NM_001379403.1(WDR26):c.944T>G (p.Leu315Arg)	WDR26 (L199R +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3377893	NM_001379403.1(WDR26):c.1133C>A (p.Ser378Tyr)	WDR26 (S262Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373148	NM_001379403.1(WDR26):c.1352T>C (p.Leu451Pro)	WDR26 (L335P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372153	NM_001379403.1(WDR26):c.1103A>C (p.Lys368Thr)	WDR26 (K252T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369984	NM_001379403.1(WDR26):c.2225G>T (p.Gly742Val)	WDR26 (G626V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369444	NM_001379403.1(WDR26):c.1022C>G (p.Thr341Arg)	WDR26 (T225R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369291	NM_001379403.1(WDR26):c.1718G>A (p.Cys573Tyr)	WDR26 (C457Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368475	NM_001379403.1(WDR26):c.1319+3A>G	WDR26	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3368330	NM_001379403.1(WDR26):c.1067A>G (p.Tyr356Cys)	WDR26 (Y240C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367846	NM_001379403.1(WDR26):c.1438A>C (p.Ile480Leu)	WDR26 (I364L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365596	NM_001379403.1(WDR26):c.1304A>C (p.Asp435Ala)	WDR26 (D319A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363878	NM_001379403.1(WDR26):c.1037A>G (p.Asn346Ser)	WDR26 (N230S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363663	NM_001379403.1(WDR26):c.851C>G (p.Pro284Arg)	WDR26 (P184R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363334	NM_001379403.1(WDR26):c.723-10T>C	WDR26	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3361211	NM_001379403.1(WDR26):c.650A>T (p.Lys217Met)	WDR26 (K117M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3352754	NM_001379403.1(WDR26):c.1086A>G (p.Ala362=)	WDR26	Single nucleotide variant (synonymous variant)	WDR26-related disorder	GLikely benign
Select item 3350926	NM_001379403.1(WDR26):c.1756G>T (p.Val586Leu)	WDR26 (V470L +2 more)	Single nucleotide variant (missense variant)	WDR26-related disorder	GUncertain significance
Select item 3339684	NM_001379403.1(WDR26):c.2139A>G (p.Thr713=)	WDR26	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3337742	NM_001379403.1(WDR26):c.1777del (p.Cys593fs)	WDR26 (C477fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3332769	NM_001379403.1(WDR26):c.484T>C (p.Ser162Pro)	WDR26 (S162P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332767	NM_001379403.1(WDR26):c.1578G>C (p.Glu526Asp)	WDR26 (E410D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332766	NM_001379403.1(WDR26):c.914T>G (p.Leu305Trp)	WDR26 (L205W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3332765	NM_001379403.1(WDR26):c.626A>T (p.Glu209Val)	WDR26 (E109V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332764	NM_001379403.1(WDR26):c.526G>A (p.Val176Ile)	WDR26 (V76I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3236041	NM_001379403.1(WDR26):c.1458G>A (p.Pro486=)	WDR26	Single nucleotide variant (synonymous variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 3233698	NM_001379403.1(WDR26):c.2047G>A (p.Glu683Lys)	WDR26 (E567K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3189921	NM_001379403.1(WDR26):c.1244G>A (p.Arg415Gln)	WDR26 (R315Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189920	NM_001379403.1(WDR26):c.347G>A (p.Gly116Asp)	WDR26 (G16D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189919	NM_001379403.1(WDR26):c.336_338del (p.Gly125del)	WDR26 (G125del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GLikely benign
Select item 3189918	NM_001379403.1(WDR26):c.655C>T (p.Arg219Trp)	WDR26 (R119W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189917	NM_001379403.1(WDR26):c.482C>T (p.Pro161Leu)	WDR26 (P161L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189916	NM_001379403.1(WDR26):c.1849del (p.Thr618fs)	WDR26 (T518fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 3189915	NM_001379403.1(WDR26):c.1559G>T (p.Gly520Val)	WDR26 (G420V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148877	GRCh37/hg19 1q41-42.12(chr1:216147522-226765691)x1	ACBD3, AIDA +53 more	Copy number loss	not provided	GPathogenic
Select item 3068439	Single allele	LOC129932589, LOC129932590 +10 more	Complex	Skraban-Deardorff syndrome	GPathogenic
Select item 3065934	NM_001379403.1(WDR26):c.463C>T (p.His155Tyr)	WDR26 (H155Y +1 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 3065490	NM_001379403.1(WDR26):c.318AGG[9] (p.Gly125_Gln126insGlyGlyGly)	WDR26	Microsatellite (inframe_insertion)	Skraban-Deardorff syndrome	GUncertain significance
Select item 3065002	NM_001379403.1(WDR26):c.647del (p.Lys216fs)	WDR26 (K116fs +1 more)	Deletion (frameshift variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 3064518	NM_001379403.1(WDR26):c.647_655del (p.Lys216_Lys218del)	WDR26	Deletion (inframe_deletion)	Skraban-Deardorff syndrome	GUncertain significance
Select item 3062076	NM_001379403.1(WDR26):c.1039dup (p.Thr347fs)	WDR26 (T231fs +2 more)	Duplication (frameshift variant)	Skraban-Deardorff syndrome	GPathogenic
Select item 3059746	NM_001379403.1(WDR26):c.2235T>C (p.Pro745=)	WDR26	Single nucleotide variant (synonymous variant)	WDR26-related disorder	GLikely benign
Select item 3058275	NM_001379403.1(WDR26):c.1784G>A (p.Ser595Asn)	WDR26 (S479N +2 more)	Single nucleotide variant (missense variant)	WDR26-related disorder	GUncertain significance
Select item 3047556	NM_001379403.1(WDR26):c.1488A>G (p.Thr496=)	WDR26	Single nucleotide variant (synonymous variant)	WDR26-related disorder	GLikely benign
Select item 3031057	NM_001379403.1(WDR26):c.387C>T (p.Thr129=)	WDR26	Single nucleotide variant (synonymous variant)	WDR26-related disorder	GLikely benign
Select item 3030813	NM_001379403.1(WDR26):c.1338T>C (p.Tyr446=)	WDR26	Single nucleotide variant (synonymous variant)	WDR26-related disorder	GLikely benign
Select item 3027209	NM_001379403.1(WDR26):c.1354dup (p.Thr452fs)	WDR26 (T336fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3026185	NM_001379403.1(WDR26):c.128G>A (p.Gly43Glu)	WDR26 (G43E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2760999	NM_001379403.1(WDR26):c.465C>A (p.His155Gln)	WDR26 (H155Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682234	NM_001379403.1(WDR26):c.1163-14A>G	WDR26	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2662363	NM_001379403.1(WDR26):c.1586T>C (p.Leu529Pro)	WDR26 (L413P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662189	NM_001379403.1(WDR26):c.1835A>G (p.Tyr612Cys)	WDR26 (Y496C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2639938	NC_000001.11:g.224454289T>C	CNIH3, WDR26	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2639937	NM_001379403.1(WDR26):c.54G>A (p.Ser18=)	WDR26	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2639936	NM_001379403.1(WDR26):c.140G>A (p.Gly47Asp)	WDR26 (G47D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2639935	NM_001379403.1(WDR26):c.178TCC[6] (p.Ser66_Ser67del)	WDR26	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2639934	NM_001379403.1(WDR26):c.178TCC[11] (p.Ser67_Val68insSerSerSer)	WDR26	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2639933	NM_001379403.1(WDR26):c.178TCC[10] (p.Ser67_Val68insSerSer)	WDR26	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2639932	NM_001379403.1(WDR26):c.339CGG[5] (p.Gly125_Gln126insGly)	WDR26	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2639931	NM_001379403.1(WDR26):c.513C>T (p.Ser171=)	WDR26	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2639930	NM_001379403.1(WDR26):c.603C>T (p.Ala201=)	WDR26	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2637569	NM_001379403.1(WDR26):c.523A>G (p.Asn175Asp)	WDR26 (N175D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637363	NM_001379403.1(WDR26):c.428C>T (p.Ser143Phe)	WDR26 (S143F +1 more)	Single nucleotide variant (missense variant)	WDR26-related disorder	GUncertain significance
Select item 2635151	NM_001379403.1(WDR26):c.1204C>T (p.Gln402Ter)	WDR26 (Q286* +2 more)	Single nucleotide variant (nonsense)	WDR26-related disorder	GPathogenic
Select item 2631771	NM_001379403.1(WDR26):c.2246_2249delinsTTTGTATAATGTT (p.His749_Gln750delinsLeuCysIleMetLeu)	WDR26	Indel (inframe_indel)	WDR26-related disorder	GUncertain significance
Select item 2630665	NM_001379403.1(WDR26):c.351_353dup (p.Gly125_Gln126insGly)	WDR26	Duplication (inframe_insertion)	WDR26-related disorder	GUncertain significance
Select item 2629411	NM_001379403.1(WDR26):c.2129C>T (p.Thr710Ile)	WDR26 (T594I +2 more)	Single nucleotide variant (missense variant)	WDR26-related disorder	GUncertain significance
Select item 2627211	NM_001379403.1(WDR26):c.2063G>A (p.Ser688Asn)	WDR26 (S572N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583143	NM_001379403.1(WDR26):c.1702G>A (p.Gly568Arg)	WDR26 (G452R +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 2579189	GRCh38/hg38 1q42.11-42.12(chr1:224304638-224434886)x1	CNIH3, CNIH4 +12 more	Copy number loss	Skraban-Deardorff syndrome	GPathogenic
Select item 2574355	NM_001379403.1(WDR26):c.1540_1569del (p.Asn514_Asp523del)	WDR26	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2569582	NM_001379403.1(WDR26):c.389C>A (p.Pro130Gln)	WDR26 (P130Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2541957	NM_001379403.1(WDR26):c.471T>G (p.Asn157Lys)	WDR26 (N157K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2541339	NM_001379403.1(WDR26):c.652A>C (p.Lys218Gln)	WDR26 (K118Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534739	NM_001379403.1(WDR26):c.598G>A (p.Ala200Thr)	WDR26 (A200T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534738	NM_001379403.1(WDR26):c.586T>G (p.Ser196Ala)	WDR26 (S96A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534736	NM_001379403.1(WDR26):c.562T>G (p.Ser188Ala)	WDR26 (S88A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2504897	NM_001379403.1(WDR26):c.1673G>A (p.Gly558Glu)	WDR26 (G442E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504225	NM_001379403.1(WDR26):c.1814C>T (p.Thr605Ile)	WDR26 (T489I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504213	NM_001379403.1(WDR26):c.1111T>C (p.Trp371Arg)	WDR26 (W255R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501606	NM_001379403.1(WDR26):c.517A>G (p.Ser173Gly)	WDR26 (S173G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498446	NM_001379403.1(WDR26):c.262C>T (p.His88Tyr)	WDR26 (H88Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2498445	NM_001379403.1(WDR26):c.1630T>A (p.Ser544Thr)	WDR26 (S428T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2489516	NM_001379403.1(WDR26):c.1669G>C (p.Asp557His)	WDR26 (D441H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444808	NM_001379403.1(WDR26):c.1443A>G (p.Ile481Met)	WDR26 (I365M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444539	NM_001379403.1(WDR26):c.820A>G (p.Lys274Glu)	WDR26 (K174E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443503	NM_001379403.1(WDR26):c.2026T>G (p.Ser676Ala)	WDR26 (S560A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438569	NM_001379403.1(WDR26):c.1510G>A (p.Val504Ile)	WDR26 (V388I +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GUncertain significance
Select item 2438568	NM_001379403.1(WDR26):c.460G>C (p.Ala154Pro)	WDR26 (A154P +1 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome +1 more	GUncertain significance
Select item 2431384	NM_001379403.1(WDR26):c.1881dup (p.Pro628fs)	WDR26 (P512fs +2 more)	Duplication (frameshift variant)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 2429389	NM_001379403.1(WDR26):c.1025C>T (p.Pro342Leu)	WDR26 (P226L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2429289	NM_001379403.1(WDR26):c.2249A>G (p.Gln750Arg)	WDR26 (Q634R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428763	NM_001379403.1(WDR26):c.318AGG[5] (p.Gly125del)	WDR26 (G125del +1 more)	Microsatellite (inframe_deletion)	not provided +1 more	GBenign
Select item 2390616	NM_001379403.1(WDR26):c.1544A>G (p.Tyr515Cys)	WDR26 (Y399C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2373735	NM_001379403.1(WDR26):c.311A>G (p.Asn104Ser)	WDR26 (N104S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299118	NM_001379403.1(WDR26):c.559G>T (p.Ala187Ser)	WDR26 (A87S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297832	NM_001379403.1(WDR26):c.1776G>A (p.Trp592Ter)	WDR26 (W492* +2 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 2290673	NM_001379403.1(WDR26):c.410C>T (p.Ala137Val)	WDR26 (A37V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285841	NM_001379403.1(WDR26):c.1888A>T (p.Met630Leu)	WDR26 (M514L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272452	NM_001379403.1(WDR26):c.425C>G (p.Ser142Trp)	WDR26 (S42W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262529	NM_001379403.1(WDR26):c.1441A>G (p.Ile481Val)	WDR26 (I481V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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