"PreventionGenetics, part of Exact Sciences"[submitter] AND "CHD8"[gen - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2635772	NM_001170629.2(CHD8):c.7661A>T (p.Tyr2554Phe)	CHD8 (Y2275F +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder +1 more	GUncertain significance
Select item 2031804	NM_001170629.2(CHD8):c.7533G>A (p.Leu2511=)	CHD8	Single nucleotide variant (synonymous variant)	CHD8-related disorder +1 more	GLikely benign
Select item 1206097	NM_001170629.2(CHD8):c.7499A>C (p.His2500Pro)	CHD8 (H2221P +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder	GBenign
Select item 975203	NM_001170629.2(CHD8):c.7297A>G (p.Met2433Val)	CHD8 (M2154V +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder +1 more	GLikely benign
Select item 2630831	NM_001170629.2(CHD8):c.7096C>T (p.Gln2366Ter)	CHD8 (Q2087* +1 more)	Single nucleotide variant (nonsense)	CHD8-related disorder	GLikely pathogenic
Select item 1899057	NM_001170629.2(CHD8):c.6930C>T (p.Asp2310=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	CHD8-related disorder +1 more	GLikely benign
Select item 496945	NM_001170629.2(CHD8):c.6650G>A (p.Arg2217Gln)	CHD8 (R1938Q +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder +3 more	GBenign
Select item 588066	NM_001170629.2(CHD8):c.6537C>T (p.Ser2179=)	CHD8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 497700	NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His)	CHD8 (R1879H +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2630872	NM_001170629.2(CHD8):c.6269G>A (p.Ser2090Asn)	CHD8 (S1811N +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder	GUncertain significance
Select item 196672	NM_001170629.2(CHD8):c.6232C>T (p.Leu2078=)	CHD8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 196671	NM_001170629.2(CHD8):c.6119A>G (p.Asp2040Gly)	CHD8 (D1761G +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder +4 more	GBenign/Likely benign
Select item 196670	NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys)	CHD8 (E1750K +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2636660	NM_001170629.2(CHD8):c.6010C>T (p.Pro2004Ser)	CHD8 (P1725S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2629154	NM_001170629.2(CHD8):c.5993C>G (p.Pro1998Arg)	CHD8 (P1719R +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder	GUncertain significance
Select item 2629066	NM_001170629.2(CHD8):c.5491A>G (p.Thr1831Ala)	CHD8 (T1552A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 289377	NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His)	CHD8 (R1522H +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 589728	NM_001170629.2(CHD8):c.5195A>G (p.Gln1732Arg)	CHD8 (Q1453R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2635096	NM_001170629.2(CHD8):c.5179G>T (p.Glu1727Ter)	CHD8 (E1448* +1 more)	Single nucleotide variant (nonsense)	CHD8-related disorder	GPathogenic
Select item 1029213	NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter)	CHD8 (R1383* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 588837	NM_001170629.2(CHD8):c.4809G>A (p.Ala1603=)	CHD8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 3051326	NM_001170629.2(CHD8):c.4727+6C>G	CHD8	Single nucleotide variant (intron variant)	CHD8-related disorder	GLikely benign
Select item 419510	NM_001170629.2(CHD8):c.4414C>T (p.Arg1472Ter)	CHD8 (R1193* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 2782314	NM_001170629.2(CHD8):c.4373G>A (p.Trp1458Ter)	CHD8 (W1179* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 593364	NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu)	CHD8 (H1156L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1278958	NM_001170629.2(CHD8):c.3882+6T>C	CHD8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2636457	NM_001170629.2(CHD8):c.3792G>C (p.Glu1264Asp)	CHD8 (E1264D +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder	GUncertain significance
Select item 1261918	NM_001170629.2(CHD8):c.3714+4A>G	CHD8	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1254139	NM_001170629.2(CHD8):c.3396C>T (p.Ala1132=)	CHD8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1729151	NM_001170629.2(CHD8):c.3229G>A (p.Gly1077Ser)	CHD8 (G1077S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2628655	NM_001170629.2(CHD8):c.3185G>A (p.Arg1062Gln)	CHD8 (R1062Q +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder	GUncertain significance
Select item 588135	NM_001170629.2(CHD8):c.2373G>A (p.Pro791=)	CHD8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2161967	NM_001170629.2(CHD8):c.2369G>A (p.Arg790His)	CHD8 (R790H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 589248	NM_001170629.2(CHD8):c.2362G>A (p.Val788Met)	CHD8 (V509M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3048013	NM_001170629.2(CHD8):c.2142+6T>G	CHD8	Single nucleotide variant (intron variant)	CHD8-related disorder	GLikely benign
Select item 2631600	NM_001170629.2(CHD8):c.1889A>G (p.Gln630Arg)	CHD8 (Q351R +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder	GUncertain significance
Select item 588084	NM_001170629.2(CHD8):c.1843C>T (p.Pro615Ser)	CHD8 (P336S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 392882	NM_001170629.2(CHD8):c.1690C>T (p.Arg564Ter)	CHD8 (R285* +1 more)	Single nucleotide variant (nonsense)	CHD8-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2633846	NM_001170629.2(CHD8):c.1558A>G (p.Lys520Glu)	CHD8 (K241E +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder	GUncertain significance
Select item 588613	NM_001170629.2(CHD8):c.1437C>T (p.Asn479=)	CHD8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 196317	NM_001170629.2(CHD8):c.1407T>C (p.Ile469=)	CHD8	Single nucleotide variant (synonymous variant)	CHD8-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 284182	NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu)	CHD8 (G163E +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1929925	NM_001170629.2(CHD8):c.1301C>G (p.Ala434Gly)	CHD8 (A155G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1756445	NM_001170629.2(CHD8):c.1234G>A (p.Ala412Thr)	CHD8 (A133T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2633272	NM_001170629.2(CHD8):c.1138C>T (p.Gln380Ter)	CHD8 (Q101* +1 more)	Single nucleotide variant (nonsense)	CHD8-related disorder	GLikely pathogenic
Select item 279764	NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe)	CHD8 (L12F +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder +3 more	GBenign/Likely benign
Select item 2414488	NM_001170629.2(CHD8):c.856C>T (p.Arg286Cys)	CHD8 (R286C +1 more)	Single nucleotide variant (missense variant)	CHD8-related disorder +1 more	GUncertain significance
Select item 285494	NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys)	CHD8 (E88K)	Single nucleotide variant (missense variant +1 more)	CHD8-related disorder +3 more	GBenign/Likely benign
Select item 193187	NM_001170629.2(CHD8):c.27C>T (p.Phe9=)	CHD8	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign

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Items: 49