ClinVar for Gene (Select 80232) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	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	NM_001322303.2(CNIH3):c.99+19102T>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)	Skraban-Deardorff syndrome +2 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
Select item 2247258	NM_001379403.1(WDR26):c.1458+3A>G	WDR26	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2236451	NM_001379403.1(WDR26):c.2059G>A (p.Ala687Thr)	WDR26 (A571T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2231319	NM_001379403.1(WDR26):c.1073T>C (p.Met358Thr)	WDR26 (M242T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228077	NM_001379403.1(WDR26):c.1193del (p.Pro398fs)	WDR26 (P282fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2226793	NM_001379403.1(WDR26):c.1457C>T (p.Pro486Leu)	WDR26 (P370L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2174115	NM_001379403.1(WDR26):c.1216C>T (p.Arg406Trp)	WDR26 (R290W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956518	NM_001379403.1(WDR26):c.1022C>T (p.Thr341Met)	WDR26 (T341M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879112	NM_001322304.2(CNIH3):c.-129C>G	CNIH3, WDR26 (Q30E)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1879111	NM_001379403.1(WDR26):c.1600-3T>C	WDR26	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1878954	NM_001379403.1(WDR26):c.407C>G (p.Ser136Trp)	WDR26 (S136W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809014	GRCh37/hg19 1q41-42.12(chr1:221325488-225804228)x1	AIDA, BROX +21 more	Copy number loss	not provided	GUncertain significance
Select item 1802591	NM_001379403.1(WDR26):c.1376G>A (p.Trp459Ter)	WDR26 (W343* +2 more)	Single nucleotide variant (nonsense)	Skraban-Deardorff syndrome	GPathogenic
Select item 1712271	NM_001379403.1(WDR26):c.834_838del (p.Asp278fs)	WDR26 (D178fs +1 more)	Deletion (frameshift variant)	Skraban-Deardorff syndrome	GPathogenic
Select item 1711240	NM_001379403.1(WDR26):c.575T>C (p.Val192Ala)	WDR26 (V192A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1711239	NM_001379403.1(WDR26):c.1916G>T (p.Arg639Leu)	WDR26 (R523L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710666	NM_001379403.1(WDR26):c.1050T>G (p.Ile350Met)	WDR26 (I234M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	ABCB10, ACBD3 +381 more	Copy number gain	See cases	GPathogenic
Select item 1705637	NM_001379403.1(WDR26):c.1446G>A (p.Trp482Ter)	WDR26 (W366* +2 more)	Single nucleotide variant (nonsense)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 1703636	GRCh37/hg19 1q42.11-42.12(chr1:224432682-225142704)	CNIH3, CNIH4 +3 more	Copy number loss	Chromosome 1q41-q42 deletion syndrome	GPathogenic
Select item 1703175	NM_001379403.1(WDR26):c.1082A>G (p.His361Arg)	WDR26 (H245R +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GLikely pathogenic
Select item 1701125	NM_001379403.1(WDR26):c.-2C>T	WDR26	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance

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