"GeneDx"[submitter] AND "WDR26"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 146036	GRCh38/hg38 1q41-42.12(chr1:223749425-224604271)x1	CAPN2, CNIH3 +40 more	Copy number loss	See cases	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 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 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 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 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 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 1313699	NM_001379403.1(WDR26):c.1642A>G (p.Ser548Gly)	WDR26 (S432G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2574355	NM_001379403.1(WDR26):c.1540_1569del (p.Asn514_Asp523del)	WDR26	Deletion (inframe_deletion)	not provided	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 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 1307688	NM_001379403.1(WDR26):c.1389C>G (p.Phe463Leu)	WDR26 (F347L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303704	NM_001379403.1(WDR26):c.1361A>G (p.His454Arg)	WDR26 (H338R +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 817912	NM_001379403.1(WDR26):c.1323_1324delinsTT (p.Arg441_Gln442delinsSerTer)	WDR26	Indel (nonsense)	not provided	GPathogenic
Select item 3368475	NM_001379403.1(WDR26):c.1319+3A>G	WDR26	Single nucleotide variant (intron 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 1335015	NM_001379403.1(WDR26):c.1271A>G (p.Asp424Gly)	WDR26 (D308G +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 545954	NM_001379403.1(WDR26):c.1259del (p.Asn420fs)	WDR26 (N304fs +2 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 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 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 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 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 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 1314042	NM_001379403.1(WDR26):c.1006C>G (p.Leu336Val)	WDR26 (L220V +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1304362	NM_001379403.1(WDR26):c.988C>G (p.Leu330Val)	WDR26 (L214V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699557	NM_001379403.1(WDR26):c.937T>G (p.Phe313Val)	WDR26 (F197V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304843	NM_001379403.1(WDR26):c.857T>C (p.Val286Ala)	WDR26 (V186A +1 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 962945	NM_001379403.1(WDR26):c.823-10A>G	WDR26	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 3363334	NM_001379403.1(WDR26):c.723-10T>C	WDR26	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1268045	NM_001379403.1(WDR26):c.722+18C>G	WDR26	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 504158	NM_001379403.1(WDR26):c.627del (p.Glu209fs)	WDR26 (E109fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
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 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 452733	NM_001379403.1(WDR26):c.356del (p.Gly119fs)	WDR26 (G19fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
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

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Items: 43