LOC126861888[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 150080	GRCh38/hg38 14q11.2(chr14:21038933-21428431)x3	ARHGEF40, CHD8 +22 more	Copy number gain	See cases	GUncertain significance
Select item 57748	GRCh38/hg38 14q11.2(chr14:21224511-21455608)x1	CHD8, HNRNPC +8 more	Copy number loss	See cases	GPathogenic
Select item 2803754	NM_001170629.2(CHD8):c.7066-15T>C	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271617	NM_001170629.2(CHD8):c.7065+86A>G	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1911649	NM_001170629.2(CHD8):c.7065+10A>G	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2465538	NM_001170629.2(CHD8):c.7064C>T (p.Ala2355Val)	CHD8, LOC126861888 (A2355V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 3256790	NM_001170629.2(CHD8):c.7054C>T (p.Arg2352Ter)	CHD8, LOC126861888 (R2073* +1 more)	Single nucleotide variant (nonsense)	Intellectual developmental disorder with autism and macrocephaly	GLikely pathogenic
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 1387802	NM_001170629.2(CHD8):c.7045G>C (p.Val2349Leu)	CHD8, LOC126861888 (V2070L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 196943	NM_001170629.2(CHD8):c.7036G>A (p.Glu2346Lys)	CHD8, LOC126861888 (E2067K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3363646	NM_001170629.2(CHD8):c.7023A>T (p.Leu2341Phe)	CHD8, LOC126861888 (L2062F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 2274492	NM_001170629.2(CHD8):c.6998G>A (p.Arg2333His)	CHD8, LOC126861888 (R2054H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 3371812	NM_001170629.2(CHD8):c.6970A>G (p.Thr2324Ala)	CHD8, LOC126861888 (T2045A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423861	NM_001170629.2(CHD8):c.6947del (p.Pro2316fs)	CHD8, LOC126861888 (P2037fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 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 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 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 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 2712239	NM_001170629.2(CHD8):c.6931C>T (p.Leu2311=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899057	NM_001170629.2(CHD8):c.6930C>T (p.Asp2310=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3369477	NM_001170629.2(CHD8):c.6910C>G (p.Pro2304Ala)	CHD8, LOC126861888 (P2025A +1 more)	Single nucleotide variant (missense variant)	not provided	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 1992097	NM_001170629.2(CHD8):c.6886-20G>A	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 504097	NM_001170629.2(CHD8):c.6876dup (p.Leu2293fs)	LOC126861888, CHD8 (L2014fs +1 more)	Duplication (frameshift variant)	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 2021095	NM_001170629.2(CHD8):c.6864G>A (p.Gly2288=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2117509	NM_001170629.2(CHD8):c.6844C>T (p.Leu2282=)	CHD8, LOC126861888	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 589553	NM_001170629.2(CHD8):c.6830G>C (p.Gly2277Ala)	CHD8, LOC126861888 (G1998A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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
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 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 2007047	NM_001170629.2(CHD8):c.6806_6808del (p.Lys2269_Leu2270delinsMet)	CHD8, LOC126861888	Deletion (inframe_indel)	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 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 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 745268	NM_001170629.2(CHD8):c.6772-4C>G	CHD8, LOC126861888	Single nucleotide variant (intron 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 3005622	NM_001170629.2(CHD8):c.6772-18G>C	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203118	NM_001170629.2(CHD8):c.6772-103T>G	CHD8, LOC126861888	Single nucleotide variant (intron variant)	not provided	GLikely benign
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

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Items: 66