"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CHD8"[gene - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196999	NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=)	CHD8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2644061	NM_001170629.2(CHD8):c.7602G>A (p.Leu2534=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648543	NM_001170629.2(CHD8):c.7431G>A (p.Met2477Ile)	CHD8 (M2198I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2578710	NM_001170629.2(CHD8):c.7291G>A (p.Ala2431Thr)	CHD8 (A2152T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026300	NM_001170629.2(CHD8):c.7252C>T (p.Arg2418Trp)	CHD8 (R2139W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 703878	NM_001170629.2(CHD8):c.7203G>A (p.Val2401=)	CHD8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 196943	NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys)	CHD8, LOC126861888 (E2067K +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 2644062	NM_001170629.2(CHD8):c.6937A>G (p.Thr2313Ala)	CHD8, LOC126861888 (T2034A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589146	NM_001170629.2(CHD8):c.6816G>A (p.Ala2272=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 589647	NM_001170629.2(CHD8):c.6571T>C (p.Leu2191=)	CHD8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 807066	NM_001170629.2(CHD8):c.6466A>G (p.Lys2156Glu)	CHD8 (K2156E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 703591	NM_001170629.2(CHD8):c.6340C>T (p.Leu2114Phe)	CHD8 (L2114F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 589557	NM_001170629.2(CHD8):c.6054T>C (p.Ser2018=)	CHD8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1193400	NM_001170629.2(CHD8):c.5665C>T (p.Arg1889Cys)	CHD8 (R1610C +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2644063	NM_001170629.2(CHD8):c.5607del (p.Asp1870fs)	CHD8 (D1591fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1298575	NM_001170629.2(CHD8):c.5561G>A (p.Cys1854Tyr)	CHD8 (C1575Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981314	NM_001170629.2(CHD8):c.5500C>T (p.Arg1834Ter)	CHD8 (R1555* +1 more)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic
Select item 2663913	NM_001170629.2(CHD8):c.5488C>T (p.Arg1830Cys)	CHD8, SNORD8 +1 more (R1551C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1193997	NM_001170629.2(CHD8):c.5483G>A (p.Arg1828His)	CHD8 (R1549H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2644064	NM_001170629.2(CHD8):c.5475T>C (p.His1825=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 289377	NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His)	CHD8 (R1522H +1 more)	Single nucleotide variant (missense variant)	CHD8-related condition +3 more	GConflicting classifications of pathogenicity
Select item 2672554	NM_001170629.2(CHD8):c.5365del (p.Ile1789fs)	CHD8 (I1510fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2420299	NM_001170629.2(CHD8):c.5336G>A (p.Arg1779His)	CHD8 (R1500H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426778	NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter)	CHD8 (R1497* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 589728	NM_001170629.2(CHD8):c.5195A>G (p.Gln1732Arg)	CHD8 (Q1453R +1 more)	Single nucleotide variant (missense variant)	CHD8-related condition +2 more	GBenign/Likely benign
Select item 3234690	NM_001170629.2(CHD8):c.4964G>A (p.Cys1655Tyr)	CHD8 (C1376Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589681	NM_001170629.2(CHD8):c.4752A>G (p.Leu1584=)	CHD8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 488481	NM_001170629.2(CHD8):c.4378C>T (p.Arg1460Ter)	CHD8 (R1181* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 932668	NM_001170629.2(CHD8):c.3772A>C (p.Ile1258Leu)	CHD8 (I1258L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498590	NM_001170629.2(CHD8):c.3514A>G (p.Arg1172Gly)	CHD8 (R1172G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1176982	NM_001170629.2(CHD8):c.3492C>T (p.Ile1164=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1215438	NM_001170629.2(CHD8):c.3307+86T>C	CHD8	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 871661	NM_001170629.2(CHD8):c.3002C>G (p.Ser1001Ter)	CHD8 (S1001* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 807067	NM_001170629.2(CHD8):c.2845G>T (p.Glu949Ter)	CHD8 (E670* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 871662	NM_001170629.2(CHD8):c.2795C>G (p.Ser932Ter)	CHD8 (S653* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3026181	NM_001170629.2(CHD8):c.2735G>A (p.Arg912His)	CHD8 (R633H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1694715	NM_001170629.2(CHD8):c.2726C>G (p.Ser909Ter)	CHD8 (S630* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 597885	NM_001170629.2(CHD8):c.2691G>A (p.Gln897=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2644065	NM_001170629.2(CHD8):c.2403A>G (p.Leu801=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 493140	NM_001170629.2(CHD8):c.2364+2T>C	CHD8	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 589248	NM_001170629.2(CHD8):c.2362G>A (p.Val788Met)	CHD8 (V509M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2644066	NM_001170629.2(CHD8):c.2052T>C (p.Thr684=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 588415	NM_001170629.2(CHD8):c.1822A>G (p.Ile608Val)	CHD8 (I329V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 623834	NM_001170629.2(CHD8):c.1791AGA[3] (p.Glu601del)	CHD8 (E601del +1 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GLikely benign
Select item 216903	NM_001170629.2(CHD8):c.1744C>T (p.Arg582Ter)	CHD8 (R303* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 597886	NM_001170629.2(CHD8):c.1717-4A>G	CHD8	Single nucleotide variant (intron variant)	not provided +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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1208398	NM_001170629.2(CHD8):c.1601+29C>T	CHD8	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2644067	NM_001170629.2(CHD8):c.1478G>C (p.Arg493Pro)	CHD8 (R214P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 588613	NM_001170629.2(CHD8):c.1437C>T (p.Asn479=)	CHD8	Single nucleotide variant (synonymous variant)	not provided +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 condition +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 condition +3 more	GConflicting classifications of pathogenicity
Select item 807068	NM_001170629.2(CHD8):c.1320G>A (p.Ser440=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 930650	NM_001170629.2(CHD8):c.1030G>A (p.Val344Met)	CHD8 (V344M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly +1 more	GUncertain significance
Select item 279764	NM_001170629.2(CHD8):c.871C>T (p.Leu291Phe)	CHD8 (L12F +1 more)	Single nucleotide variant (missense variant)	CHD8-related condition +3 more	GBenign/Likely benign
Select item 871663	NM_001170629.2(CHD8):c.852G>A (p.Ser284=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 589599	NM_001170629.2(CHD8):c.667G>C (p.Val223Leu)	CHD8 (V223L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 193186	NM_001170629.2(CHD8):c.456A>G (p.Pro152=)	CHD8	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 284743	NM_001170629.2(CHD8):c.341C>T (p.Thr114Met)	CHD8 (T114M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 521546	NM_001170629.2(CHD8):c.338C>T (p.Ser113Leu)	CHD8 (S113L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 285494	NM_001170629.2(CHD8):c.262G>A (p.Glu88Lys)	CHD8 (E88K)	Single nucleotide variant (missense variant +1 more)	CHD8-related condition +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 specified +3 more	GBenign/Likely benign

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Items: 63