"PreventionGenetics, part of Exact Sciences"[submitter] AND "WDR81"[ge - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2219095	NM_001163809.2(WDR81):c.1285G>T (p.Ala429Ser)	WDR81 (A429S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3040358	NM_001163809.2(WDR81):c.1290C>T (p.Gly430=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	WDR81-related disorder	GLikely benign
Select item 2312125	NM_001163809.2(WDR81):c.1585C>G (p.Arg529Gly)	WDR81 (R529G)	Single nucleotide variant (missense variant +1 more)	WDR81-related disorder +1 more	GUncertain significance
Select item 733380	NM_001163809.2(WDR81):c.1604G>A (p.Arg535His)	WDR81 (R535H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GLikely benign
Select item 3044616	NM_001163809.2(WDR81):c.1605C>T (p.Arg535=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	WDR81-related disorder	GLikely benign
Select item 3054853	NM_001163809.2(WDR81):c.1606G>A (p.Glu536Lys)	WDR81 (E536K)	Single nucleotide variant (missense variant +1 more)	WDR81-related disorder	GUncertain significance
Select item 730419	NM_001163809.2(WDR81):c.1722C>T (p.His574=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 713768	NM_001163809.2(WDR81):c.1734C>T (p.Tyr578=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3053492	NM_001163809.2(WDR81):c.1800C>T (p.Pro600=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	WDR81-related disorder	GLikely benign
Select item 723697	NM_001163809.2(WDR81):c.1868C>T (p.Thr623Met)	WDR81 (T623M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 3030095	NM_001163809.2(WDR81):c.2055G>A (p.Ala685=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	WDR81-related disorder	GLikely benign
Select item 752745	NM_001163809.2(WDR81):c.2442C>T (p.Val814=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	WDR81-related disorder +1 more	GLikely benign
Select item 3051486	NM_001163809.2(WDR81):c.2610G>A (p.Val870=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	WDR81-related disorder	GLikely benign
Select item 718361	NM_001163809.2(WDR81):c.2697C>T (p.Arg899=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 734275	NM_001163809.2(WDR81):c.2871T>C (p.Asn957=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	WDR81-related disorder +1 more	GBenign/Likely benign
Select item 786299	NM_001163809.2(WDR81):c.3112G>A (p.Gly1038Arg)	WDR81 (G1038R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 730142	NM_001163809.2(WDR81):c.3832G>A (p.Gly1278Ser)	WDR81 (G75S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1031891	NM_001163809.2(WDR81):c.3854C>T (p.Pro1285Leu)	WDR81 (P1285L +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 3047645	NM_001163809.2(WDR81):c.4059C>T (p.Ile1353=)	WDR81	Single nucleotide variant (synonymous variant)	WDR81-related disorder	GLikely benign
Select item 734276	NM_001163809.2(WDR81):c.4324-8G>A	WDR81	Single nucleotide variant (intron variant)	WDR81-related disorder +1 more	GBenign/Likely benign
Select item 3051957	NM_001163809.2(WDR81):c.4481G>A (p.Cys1494Tyr)	WDR81 (C1494Y +3 more)	Single nucleotide variant (missense variant)	WDR81-related disorder	GLikely benign
Select item 1326686	NM_001163809.2(WDR81):c.4502G>A (p.Arg1501Gln)	WDR81 (R1501Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1176678	NM_001163809.2(WDR81):c.4590C>T (p.Ser1530=)	WDR81	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3034719	NM_001163809.2(WDR81):c.4770C>T (p.Gly1590=)	WDR81	Single nucleotide variant (synonymous variant)	WDR81-related disorder	GLikely benign
Select item 3055081	NM_001163809.2(WDR81):c.4910_4934del (p.His1637fs)	WDR81 (H1637fs +3 more)	Deletion (frameshift variant)	WDR81-related disorder	GLikely pathogenic
Select item 669874	NM_001163809.2(WDR81):c.5161G>A (p.Val1721Ile)	WDR81 (V494I +3 more)	Single nucleotide variant (missense variant)	WDR81-related disorder +2 more	GBenign/Likely benign
Select item 493203	NM_001163809.2(WDR81):c.5231C>T (p.Ala1744Val)	WDR81 (A541V +3 more)	Single nucleotide variant (missense variant)	WDR81-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3034435	NM_001163809.2(WDR81):c.5322G>T (p.Leu1774=)	WDR81	Single nucleotide variant (synonymous variant)	WDR81-related disorder	GLikely benign
Select item 3047906	NM_001163809.2(WDR81):c.5328C>T (p.His1776=)	WDR81	Single nucleotide variant (synonymous variant)	WDR81-related disorder	GLikely benign
Select item 3036956	NM_001163809.2(WDR81):c.5664C>T (p.Ser1888=)	WDR81	Single nucleotide variant (synonymous variant)	WDR81-related disorder	GLikely benign
Select item 713795	NM_001163809.2(WDR81):c.5802C>T (p.Asn1934=)	WDR81	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Items: 31