Related gene-specific medical variations for Gene (Select 57680) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244071	NC_000014.8:g.(?_21853772)_(21854355_?)dup	CHD8	Duplication	not provided	GUncertain significance
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 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 3005622	NM_001170629.2(CHD8):c.6772-18G>C	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964141	NM_001170629.2(CHD8):c.6860A>G (p.Lys2287Arg)	CHD8, LOC126861888 (K2008R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920694	NM_001170629.2(CHD8):c.1228C>T (p.Gln410Ter)	CHD8 (Q131* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 2902924	NM_001170629.2(CHD8):c.6940C>T (p.Arg2314Trp)	CHD8, LOC126861888 (R2035W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2894737	NM_001170629.2(CHD8):c.6913A>C (p.Asn2305His)	CHD8, LOC126861888 (N2305H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803754	NM_001170629.2(CHD8):c.7066-15T>C	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793090	NM_001170629.2(CHD8):c.6931C>G (p.Leu2311Val)	CHD8, LOC126861888 (L2032V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765474	NM_001170629.2(CHD8):c.6806A>G (p.Lys2269Arg)	CHD8, LOC126861888 (K1990R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712239	NM_001170629.2(CHD8):c.6931C>T (p.Leu2311=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2683918	NM_001170629.2(CHD8):c.2659A>G (p.Ile887Val)	CHD8 (I608V +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
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 2582437	NM_001170629.2(CHD8):c.6130C>T (p.Arg2044Ter)	CHD8 (R1765* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 2574671	NM_001170629.2(CHD8):c.3623G>T (p.Cys1208Phe)	CHD8 (C1208F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 2465538	NM_001170629.2(CHD8):c.7064C>T (p.Ala2355Val)	CHD8, LOC126861888 (A2355V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2441710	NM_001170629.2(CHD8):c.596A>C (p.Lys199Thr)	CHD8 (K199T)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440015	NM_001170629.2(CHD8):c.5837A>C (p.Asp1946Ala)	CHD8 (D1667A +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440014	NM_001170629.2(CHD8):c.1745G>A (p.Arg582Gln)	CHD8 (R303Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440012	NM_001170629.2(CHD8):c.4214C>T (p.Thr1405Met)	CHD8 (T1126M +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440010	NM_001170629.2(CHD8):c.6532_6534del (p.Ser2179del)	CHD8 (S1900del +1 more)	Deletion (inframe_deletion)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440009	NM_001170629.2(CHD8):c.1910G>A (p.Ser637Asn)	CHD8 (S358N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440008	NM_001170629.2(CHD8):c.6403G>A (p.Gly2135Arg)	CHD8 (G1856R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440007	NM_001170629.2(CHD8):c.2263C>T (p.Pro755Ser)	CHD8 (P476S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440006	NM_001170629.2(CHD8):c.637C>T (p.Pro213Ser)	CHD8 (P213S)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440005	NM_001170629.2(CHD8):c.899A>C (p.Gln300Pro)	CHD8 (Q21P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440004	NM_001170629.2(CHD8):c.6122A>G (p.Tyr2041Cys)	CHD8 (Y1762C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2440003	NM_001170629.2(CHD8):c.5275A>T (p.Ser1759Cys)	CHD8 (S1480C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2439084	NM_001170629.2(CHD8):c.5017C>T (p.Arg1673Ter)	CHD8 (R1394* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 2439079	NM_001170629.2(CHD8):c.1100dup (p.Pro368fs)	CHD8 (P368fs +1 more)	Duplication (frameshift variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 2430094	NM_001170629.2(CHD8):c.3511C>T (p.Gln1171Ter)	CHD8 (Q1171* +1 more)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GPathogenic
Select item 2430093	NM_001170629.2(CHD8):c.2937_2939delinsTC (p.Leu980fs)	CHD8 (L701fs +1 more)	Indel (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2430092	NM_001170629.2(CHD8):c.1582_1583del (p.Lys528fs)	CHD8 (K249fs +1 more)	Deletion (frameshift variant)	Autism spectrum disorder	GPathogenic
Select item 2429996	NM_001170629.2(CHD8):c.4081G>T (p.Glu1361Ter)	CHD8 (E1082* +1 more)	Single nucleotide variant (nonsense)	Developmental disorder	GLikely pathogenic
Select item 2429995	NM_001170629.2(CHD8):c.7638TGA[2] (p.Asp2549del)	CHD8 (D2270del +1 more)	Microsatellite (inframe_deletion)	Autism spectrum disorder	GLikely benign
Select item 2429994	NM_001170629.2(CHD8):c.7508A>C (p.His2503Pro)	CHD8 (H2224P +1 more)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429993	NM_001170629.2(CHD8):c.2365-10T>G	CHD8	Single nucleotide variant (intron variant)	Autism spectrum disorder	GLikely benign
Select item 2274492	NM_001170629.2(CHD8):c.6998G>A (p.Arg2333His)	CHD8, LOC126861888 (R2054H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2220873	NM_001170629.2(CHD8):c.6815C>T (p.Ala2272Val)	CHD8, LOC126861888 (A2272V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2155911	NM_001170629.2(CHD8):c.7060C>G (p.Leu2354Val)	CHD8, LOC126861888 (L2075V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137550	NM_001170629.2(CHD8):c.6941G>A (p.Arg2314Gln)	CHD8, LOC126861888 (R2314Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117509	NM_001170629.2(CHD8):c.6844C>T (p.Leu2282=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103613	NM_001170629.2(CHD8):c.6772-13del	CHD8, LOC126861888	Deletion (intron variant)	not provided	GLikely benign
Select item 2021095	NM_001170629.2(CHD8):c.6864G>A (p.Gly2288=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007047	NM_001170629.2(CHD8):c.6806_6808del (p.Lys2269_Leu2270delinsMet)	CHD8, LOC126861888	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1992411	NM_001170629.2(CHD8):c.3299T>C (p.Leu1100Pro)	CHD8 (L1100P +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 1992118	NM_001170629.2(CHD8):c.7001G>A (p.Arg2334Gln)	CHD8, LOC126861888 (R2055Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1992097	NM_001170629.2(CHD8):c.6886-20G>A	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1933189	NM_001170629.2(CHD8):c.6945C>A (p.Ile2315=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911649	NM_001170629.2(CHD8):c.7065+10A>G	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902003	NM_001170629.2(CHD8):c.6881T>C (p.Val2294Ala)	CHD8, LOC126861888 (V2015A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1809942	NM_001170629.2(CHD8):c.6772G>C (p.Glu2258Gln)	CHD8, LOC126861888 (E1979Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1756440	NM_001170629.2(CHD8):c.6985G>A (p.Glu2329Lys)	CHD8, LOC126861888 (E2050K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1755467	NM_001170629.2(CHD8):c.6795C>T (p.Phe2265=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1721264	NM_001170629.2(CHD8):c.6812T>C (p.Met2271Thr)	CHD8, LOC126861888 (M1992T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706251	NM_001170629.2(CHD8):c.7000C>T (p.Arg2334Trp)	CHD8, LOC126861888 (R2055W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700165	NM_001170629.2(CHD8):c.2841_2845delinsATC (p.Asp948fs)	CHD8 (D669fs +1 more)	Indel (frameshift variant)	Neurodevelopmental delay	GPathogenic
Select item 1696513	NM_001170629.2(CHD8):c.1720del (p.Arg574fs)	CHD8 (R295fs +1 more)	Deletion (frameshift variant)	CHD8-associated Neurodevelopmental syndrome	GLikely pathogenic
Select item 1678814	NM_001170629.2(CHD8):c.6850C>A (p.His2284Asn)	CHD8, LOC126861888 (H2005N +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1678567	NM_001170629.2(CHD8):c.6853AAG[2] (p.Lys2287del)	CHD8, LOC126861888 (K2008del +1 more)	Microsatellite (inframe_deletion)	not specified +3 more	GUncertain significance
Select item 1676469	NM_001170629.2(CHD8):c.5051+4A>G	CHD8	Single nucleotide variant	not provided	GUncertain significance
Select item 1676432	NM_001170629.2(CHD8):c.5414A>G (p.Asp1805Gly)	CHD8 (D1526G +1 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1676412	NM_020920.4(CHD8):c.5428TCCAGC[4] (p.Ser1814_Ser1815dup)	CHD8	Microsatellite	not provided	GUncertain significance
Select item 1387802	NM_001170629.2(CHD8):c.7045G>C (p.Val2349Leu)	CHD8, LOC126861888 (V2070L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1370414	NM_001170629.2(CHD8):c.6899G>A (p.Cys2300Tyr)	CHD8, LOC126861888 (C2021Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342452	NM_001170629.2(CHD8):c.3331G>C (p.Glu1111Gln)	CHD8 (E1111Q +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1330234	NM_001170629.2(CHD8):c.1601+5G>A	CHD8	Single nucleotide variant (intron variant)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 1319289	NM_001170629.2(CHD8):c.656C>G (p.Ser219Cys)	CHD8 (S219C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1304455	NM_001170629.2(CHD8):c.7055G>A (p.Arg2352Gln)	CHD8, LOC126861888 (R2073Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1271617	NM_001170629.2(CHD8):c.7065+86A>G	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269358	NM_001170629.2(CHD8):c.6772-255C>T	CHD8, LOC126861888 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1203118	NM_001170629.2(CHD8):c.6772-103T>G	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1048638	NM_001170629.2(CHD8):c.3331_3332del (p.Glu1111fs)	CHD8 (E1111fs +1 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 996899	NM_001170629.2(CHD8):c.6496C>T (p.Leu2166Phe)	CHD8 (L1887F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 992779	NM_001170629.2(CHD8):c.4904T>C (p.Ile1635Thr)	CHD8 (I1356T +1 more)	Single nucleotide variant (missense variant)	Autism +1 more	GUncertain significance
Select item 987310	NM_001170629.2(CHD8):c.2486+1G>A	CHD8	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 987154	NM_001170629.2(CHD8):c.3638del (p.Gly1213fs)	CHD8 (G1213fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987082	NM_001170629.2(CHD8):c.1351A>T (p.Arg451Ter)	CHD8 (R172* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 986872	NM_001170629.2(CHD8):c.1540G>T (p.Glu514Ter)	CHD8 (E235* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 975814	GRCh37/hg19 14q11.2(chr14:21887312-21918282)	CHD8	Copy number loss	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
Select item 975207	NM_001170629.2(CHD8):c.7399T>A (p.Ser2467Thr)	CHD8 (S2188T +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975206	NM_001170629.2(CHD8):c.7400C>A (p.Ser2467Tyr)	CHD8 (S2188Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 975205	NM_001170629.2(CHD8):c.422C>T (p.Thr141Ile)	CHD8 (T141I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 975204	NM_001170629.2(CHD8):c.7488_7517del (p.His2500_Pro2509del)	CHD8	Deletion (inframe_deletion)	Intellectual disability	GLikely benign
Select item 931928	NM_001170629.2(CHD8):c.5749G>A (p.Gly1917Ser)	CHD8 (G1917S +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 931698	NM_001170629.2(CHD8):c.1880C>G (p.Pro627Arg)	CHD8 (P348R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
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 871661	NM_001170629.2(CHD8):c.3002C>G (p.Ser1001Ter)	CHD8 (S1001* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 869427	NM_001170629.2(CHD8):c.3522C>A (p.Tyr1174Ter)	CHD8 (Y895* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 817233	NM_001170629.2(CHD8):c.7010_7014dup (p.Met2339fs)	CHD8, LOC126861888 (M2060fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 800655	Single allele	CHD8	Insertion	not provided	GLikely pathogenic
Select item 745268	NM_001170629.2(CHD8):c.6772-4C>G	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 685596	GRCh37/hg19 14q11.2(chr14:21869505-21919003)x1	CHD8	Copy number loss	not provided	GPathogenic
Select item 597884	NM_001170629.2(CHD8):c.6870A>C (p.Arg2290Ser)	CHD8, LOC126861888 (R2011S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 589553	NM_001170629.2(CHD8):c.6830G>C (p.Gly2277Ala)	CHD8, LOC126861888 (G1998A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 589428	NM_001170629.2(CHD8):c.7010T>A (p.Leu2337Gln)	CHD8, LOC126861888 (L2058Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589151	NM_001170629.2(CHD8):c.6836G>T (p.Gly2279Val)	CHD8, LOC126861888 (G2000V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 589146	NM_001170629.2(CHD8):c.6816G>A (p.Ala2272=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign

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