ClinVar for Gene (Select 57680) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338638	NM_001170629.2(CHD8):c.5621T>C (p.Phe1874Ser)	CHD8 (F1595S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3338304	NM_001170629.2(CHD8):c.7267C>T (p.Arg2423Ter)	CHD8 (R2144* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3337912	NM_001170629.2(CHD8):c.2951T>C (p.Val984Ala)	CHD8 (V705A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336169	NM_001170629.2(CHD8):c.6308A>G (p.Glu2103Gly)	CHD8 (E1824G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266903	NM_001170629.2(CHD8):c.364G>A (p.Val122Ile)	CHD8 (V122I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3266902	NM_001170629.2(CHD8):c.7487A>G (p.His2496Arg)	CHD8 (H2217R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266901	NM_001170629.2(CHD8):c.721C>A (p.Pro241Thr)	CHD8 (P241T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3266897	NM_001170629.2(CHD8):c.7635A>T (p.Glu2545Asp)	CHD8 (E2266D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254731	NM_001170629.2(CHD8):c.5422C>T (p.Arg1808Ter)	CHD8 (R1529* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 3252366	NM_001170629.2(CHD8):c.6171T>G (p.Ser2057Arg)	CHD8 (S1778R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251191	NM_001170629.2(CHD8):c.1170A>G (p.Pro390=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3248560	NM_001170629.2(CHD8):c.1658C>A (p.Ser553Ter)	CHD8 (S274* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 3244075	NC_000014.8:g.(?_21682087)_(21870618_?)del	CHD8, HNRNPC +2 more	Deletion	not provided	GPathogenic
Select item 3244074	NC_000014.8:g.(?_21756136)_(21884086_?)dup	CHD8, RPGRIP1 +1 more	Duplication	not provided	GUncertain significance
Select item 3244073	NC_000014.8:g.(?_21671278)_(21866131_?)dup	CHD8, HNRNPC +2 more	Duplication	not provided	GUncertain significance
Select item 3244071	NC_000014.8:g.(?_21853772)_(21854355_?)dup	CHD8	Duplication	not provided	GUncertain significance
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	GUncertain significance
Select item 3239523	NM_001170629.2(CHD8):c.742C>G (p.Leu248Val)	CHD8 (L248V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239130	NM_001170629.2(CHD8):c.1354T>C (p.Leu452=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236416	NM_001170629.2(CHD8):c.68A>C (p.Asp23Ala)	CHD8 (D23A)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3236120	NM_001170629.2(CHD8):c.991C>T (p.Gln331Ter)	CHD8 (Q331* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 3235227	NM_001170629.2(CHD8):c.5629C>T (p.Pro1877Ser)	CHD8 (P1598S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
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 3233664	NM_001170629.2(CHD8):c.7644T>C (p.Asp2548=)	CHD8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3144219	NM_001170629.2(CHD8):c.7234C>G (p.Pro2412Ala)	CHD8 (P2133A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3144217	NM_001170629.2(CHD8):c.7048G>C (p.Asp2350His)	CHD8, LOC126861888 (D2071H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144216	NM_001170629.2(CHD8):c.6741T>A (p.Asp2247Glu)	CHD8 (D2247E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144215	NM_001170629.2(CHD8):c.6493G>T (p.Asp2165Tyr)	CHD8 (D1886Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144214	NM_001170629.2(CHD8):c.6401A>G (p.Asp2134Gly)	CHD8 (D2134G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144212	NM_001170629.2(CHD8):c.5501G>T (p.Arg1834Leu)	CHD8 (R1834L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144211	NM_001170629.2(CHD8):c.5333G>A (p.Arg1778Gln)	CHD8 (R1778Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144209	NM_001170629.2(CHD8):c.4276G>A (p.Asp1426Asn)	CHD8 (D1426N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144208	NM_001170629.2(CHD8):c.2760T>G (p.Phe920Leu)	CHD8 (F641L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144207	NM_001170629.2(CHD8):c.2087A>T (p.Gln696Leu)	CHD8 (Q696L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144206	NM_001170629.2(CHD8):c.1972C>G (p.Pro658Ala)	CHD8 (P379A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144205	NM_001170629.2(CHD8):c.1771A>G (p.Ile591Val)	CHD8 (I312V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144204	NM_001170629.2(CHD8):c.1711A>G (p.Ile571Val)	CHD8 (I571V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144203	NM_001170629.2(CHD8):c.1364A>G (p.Gln455Arg)	CHD8 (Q455R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3144202	NM_001170629.2(CHD8):c.1076C>T (p.Ser359Leu)	CHD8 (S80L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068947	NM_001170629.2(CHD8):c.4159C>G (p.Leu1387Val)	CHD8 (L1108V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068393	NM_001170629.2(CHD8):c.2827C>T (p.Arg943Cys)	CHD8 (R664C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3065999	NM_001170629.2(CHD8):c.3996_3997del (p.Gln1332fs)	CHD8 (Q1053fs +1 more)	Deletion (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 3064946	NM_001170629.2(CHD8):c.5924C>T (p.Pro1975Leu)	CHD8 (P1696L +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3061887	NM_001170629.2(CHD8):c.2062del (p.Gln687_Leu688insTer)	CHD8	Deletion (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 3051326	NM_001170629.2(CHD8):c.4727+6C>G	CHD8	Single nucleotide variant (intron variant)	CHD8-related disorder	GLikely 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 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 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 3024317	NM_001170629.2(CHD8):c.3389G>A (p.Arg1130His)	CHD8 (R1130H +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 3023811	NM_001170629.2(CHD8):c.1090C>T (p.Pro364Ser)	CHD8 (P85S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3019074	NM_001170629.2(CHD8):c.7183-13T>G	CHD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3017797	NM_001170629.2(CHD8):c.1459G>A (p.Asp487Asn)	CHD8 (D208N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3015784	NM_001170629.2(CHD8):c.6168G>A (p.Arg2056=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3014156	NM_001170629.2(CHD8):c.1387C>A (p.Arg463=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012247	NM_001170629.2(CHD8):c.1969C>T (p.Leu657Phe)	CHD8 (L378F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011838	NM_001170629.2(CHD8):c.1974T>G (p.Pro658=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011230	NM_001170629.2(CHD8):c.466G>T (p.Ala156Ser)	CHD8 (A156S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3011228	NM_001170629.2(CHD8):c.5283G>A (p.Lys1761=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011150	NM_001170629.2(CHD8):c.5681G>A (p.Arg1894Gln)	CHD8 (R1894Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3010897	NM_001170629.2(CHD8):c.3672C>T (p.Cys1224=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3010896	NM_001170629.2(CHD8):c.3885C>T (p.Ile1295=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009462	NM_001170629.2(CHD8):c.5252G>A (p.Arg1751His)	CHD8 (R1751H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009315	NM_001170629.2(CHD8):c.7426G>T (p.Val2476Leu)	CHD8 (V2476L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009016	NM_001170629.2(CHD8):c.7213G>C (p.Val2405Leu)	CHD8 (V2126L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008412	NM_001170629.2(CHD8):c.6320-4C>A	CHD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008073	NM_001170629.2(CHD8):c.1890G>A (p.Gln630=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007351	NM_001170629.2(CHD8):c.3347G>T (p.Cys1116Phe)	CHD8 (C837F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007008	NM_001170629.2(CHD8):c.1074A>G (p.Pro358=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005622	NM_001170629.2(CHD8):c.6772-18G>C	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004766	NM_001170629.2(CHD8):c.1567G>A (p.Gly523Ser)	CHD8 (G244S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004456	NM_001170629.2(CHD8):c.4629T>C (p.Thr1543=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003576	NM_001170629.2(CHD8):c.5036C>G (p.Ser1679Cys)	CHD8 (S1400C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002772	NM_001170629.2(CHD8):c.3501T>C (p.Asp1167=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002594	NM_001170629.2(CHD8):c.6261C>T (p.Ser2087=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002291	NM_001170629.2(CHD8):c.3831G>A (p.Leu1277=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001868	NM_001170629.2(CHD8):c.4239T>C (p.Asp1413=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001824	NM_001170629.2(CHD8):c.5183-16A>G	CHD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000644	NM_001170629.2(CHD8):c.5588C>T (p.Ala1863Val)	CHD8 (A1584V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000524	NM_001170629.2(CHD8):c.1690C>A (p.Arg564=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000313	NM_001170629.2(CHD8):c.7158A>C (p.Thr2386=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998304	NM_001170629.2(CHD8):c.1643C>A (p.Thr548Asn)	CHD8 (T269N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2998302	NM_001170629.2(CHD8):c.5249G>A (p.Arg1750Gln)	CHD8 (R1471Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996287	NM_001170629.2(CHD8):c.6167G>C (p.Arg2056Pro)	CHD8 (R1777P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994877	NM_001170629.2(CHD8):c.5146A>G (p.Met1716Val)	CHD8 (M1437V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2993909	NM_001170629.2(CHD8):c.2836A>G (p.Ile946Val)	CHD8 (I667V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993684	NM_001170629.2(CHD8):c.726C>T (p.Ser242=)	CHD8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992884	NM_001170629.2(CHD8):c.4571-12C>T	CHD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992785	NM_001170629.2(CHD8):c.7267C>A (p.Arg2423=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992652	NM_001170629.2(CHD8):c.6289G>C (p.Glu2097Gln)	CHD8 (E1818Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2992610	NM_001170629.2(CHD8):c.4063-20C>G	CHD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992179	NM_001170629.2(CHD8):c.5251C>T (p.Arg1751Cys)	CHD8 (R1751C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992145	NM_001170629.2(CHD8):c.2934A>G (p.Thr978=)	CHD8	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2991519	NM_001170629.2(CHD8):c.7194T>C (p.Thr2398=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990621	NM_001170629.2(CHD8):c.6160G>A (p.Val2054Ile)	CHD8 (V1775I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990300	NM_001170629.2(CHD8):c.2025-19A>G	CHD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989775	NM_001170629.2(CHD8):c.1215+15T>C	CHD8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987286	NM_001170629.2(CHD8):c.1387C>T (p.Arg463Trp)	CHD8 (R463W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986518	NM_001170629.2(CHD8):c.517G>A (p.Ala173Thr)	CHD8 (A173T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985181	NM_001170629.2(CHD8):c.7549C>T (p.Pro2517Ser)	CHD8 (P2238S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984688	NM_001170629.2(CHD8):c.2365-15C>T	CHD8	Single nucleotide variant (intron variant)	not provided	GLikely benign

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