20153[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 1374

<< First< Prev

Page of 14

	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 1194978	NM_001170629.2(CHD8):c.*148C>T	CHD8	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1183346	NM_001170629.2(CHD8):c.*142del	CHD8	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 2501457	NM_001170629.2(CHD8):c.7744dup (p.Ter2582LeuextTer?)	CHD8	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2264157	NM_001170629.2(CHD8):c.7733A>G (p.Asp2578Gly)	CHD8 (D2578G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431864	NM_001170629.2(CHD8):c.7724C>T (p.Ser2575Phe)	CHD8 (S2296F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 1504346	NM_001170629.2(CHD8):c.7720G>A (p.Asp2574Asn)	CHD8 (D2295N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704091	NM_001170629.2(CHD8):c.7708C>A (p.Pro2570Thr)	CHD8 (P2291T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928492	NM_001170629.2(CHD8):c.7676G>A (p.Arg2559Lys)	CHD8 (R2280K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328209	NM_001170629.2(CHD8):c.7675A>G (p.Arg2559Gly)	CHD8 (R2280G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 587884	NM_001170629.2(CHD8):c.7665T>C (p.Asp2555=)	CHD8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign
Select item 2903784	NM_001170629.2(CHD8):c.7662T>C (p.Tyr2554=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635772	NM_001170629.2(CHD8):c.7661A>T (p.Tyr2554Phe)	CHD8 (Y2275F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944661	NM_001170629.2(CHD8):c.7650A>T (p.Leu2550Phe)	CHD8 (L2271F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3233664	NM_001170629.2(CHD8):c.7644T>C (p.Asp2548=)	CHD8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1902498	NM_001170629.2(CHD8):c.7632AGA[1] (p.Glu2545del)	CHD8 (E2266del +1 more)	Microsatellite (inframe_deletion)	not provided	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 2692370	NM_001170629.2(CHD8):c.7620_7631dup (p.Asp2543_Glu2544insAspAspGluAsp)	CHD8	Duplication	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2076602	NM_001170629.2(CHD8):c.7632A>G (p.Glu2544=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3339822	NM_001170629.2(CHD8):c.7626G>T (p.Glu2542Asp)	CHD8 (E2263D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1759851	NM_001170629.2(CHD8):c.7621G>A (p.Asp2541Asn)	CHD8 (D2541N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 196999	NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=)	CHD8	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 421933	NM_001170629.2(CHD8):c.7607C>T (p.Pro2536Leu)	CHD8 (P2257L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069882	NM_001170629.2(CHD8):c.7605A>G (p.Gln2535=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644061	NM_001170629.2(CHD8):c.7602G>A (p.Leu2534=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716512	NM_001170629.2(CHD8):c.7600C>A (p.Leu2534Met)	CHD8 (L2255M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919602	NM_001170629.2(CHD8):c.7590G>A (p.Arg2530=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943660	NM_001170629.2(CHD8):c.7589G>T (p.Arg2530Leu)	CHD8 (R2530L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1759638	NM_001170629.2(CHD8):c.7588C>G (p.Arg2530Gly)	CHD8 (R2251G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1989230	NM_001170629.2(CHD8):c.7583C>T (p.Thr2528Ile)	CHD8 (T2249I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579923	NM_001170629.2(CHD8):c.7576G>A (p.Gly2526Ser)	CHD8 (G2247S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2963302	NM_001170629.2(CHD8):c.7569C>T (p.Thr2523=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1197216	NM_001170629.2(CHD8):c.7569C>A (p.Thr2523=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1577852	NM_001170629.2(CHD8):c.7563G>T (p.Val2521=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2442733	NM_001170629.2(CHD8):c.7559C>G (p.Pro2520Arg)	CHD8 (P2241R +1 more)	Single nucleotide variant (missense variant)	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 2794124	NM_001170629.2(CHD8):c.7536A>G (p.Arg2512=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031804	NM_001170629.2(CHD8):c.7533G>A (p.Leu2511=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805752	NM_001170629.2(CHD8):c.7533G>C (p.Leu2511Phe)	CHD8 (L2232F +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with autism and macrocephaly	GUncertain significance
Select item 2504370	NM_001170629.2(CHD8):c.7524T>A (p.His2508Gln)	CHD8 (H2229Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1759292	NM_001170629.2(CHD8):c.7506CCATCACCA[3] (p.His2508_Pro2509insHisHisHis)	CHD8	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1678275	NM_001170629.2(CHD8):c.7522C>T (p.His2508Tyr)	CHD8 (H2229Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861387	NM_001170629.2(CHD8):c.7521C>G (p.His2507Gln)	CHD8 (H2228Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 975204	NM_001170629.2(CHD8):c.7488_7517del (p.His2500_Pro2509del)	CHD8	Deletion (inframe_deletion)	Intellectual disability	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 1510534	NM_001170629.2(CHD8):c.7496_7504del (p.Pro2499_Pro2501del)	CHD8	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2768190	NM_001170629.2(CHD8):c.7499A>G (p.His2500Arg)	CHD8 (H2221R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206097	NM_001170629.2(CHD8):c.7499A>C (p.His2500Pro)	CHD8 (H2221P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1759173	NM_001170629.2(CHD8):c.7497C>T (p.Pro2499=)	CHD8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 589785	NM_001170629.2(CHD8):c.7496C>A (p.Pro2499His)	CHD8 (P2220H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 39634	NM_001170629.2(CHD8):c.7481ACC[4] (p.His2498del)	CHD8 (H2219del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 588736	NM_001170629.2(CHD8):c.7493A>C (p.His2498Pro)	CHD8 (H2219P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1223593	NM_001170629.2(CHD8):c.7490A>C (p.His2497Pro)	CHD8 (H2218P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2818505	NM_001170629.2(CHD8):c.7484A>C (p.His2495Pro)	CHD8 (H2216P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195359	NM_001170629.2(CHD8):c.7472T>C (p.Met2491Thr)	CHD8 (M2212T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 589310	NM_001170629.2(CHD8):c.7461C>G (p.Asp2487Glu)	CHD8 (D2208E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1554825	NM_001170629.2(CHD8):c.7452T>A (p.Pro2484=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1328602	NM_001170629.2(CHD8):c.7450C>G (p.Pro2484Ala)	CHD8 (P2205A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2247272	NM_001170629.2(CHD8):c.7445C>T (p.Ser2482Leu)	CHD8 (S2203L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554044	NM_001170629.2(CHD8):c.7436G>A (p.Gly2479Asp)	CHD8 (G2479D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 1684090	NM_001170629.2(CHD8):c.7411C>T (p.Pro2471Ser)	CHD8 (P2192S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788659	NM_001170629.2(CHD8):c.7406C>G (p.Ser2469Cys)	CHD8 (S2469C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901023	NM_001170629.2(CHD8):c.7405T>G (p.Ser2469Ala)	CHD8 (S2190A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1690435	NM_001170629.2(CHD8):c.7365G>A (p.Gln2455=)	CHD8	Single nucleotide variant (synonymous variant)	See cases +1 more	GConflicting classifications of pathogenicity
Select item 2044257	NM_001170629.2(CHD8):c.7357G>A (p.Gly2453Ser)	CHD8 (G2174S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1945731	NM_001170629.2(CHD8):c.7357G>T (p.Gly2453Cys)	CHD8 (G2174C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505951	NM_001170629.2(CHD8):c.7352G>A (p.Ser2451Asn)	CHD8 (S2172N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911468	NM_001170629.2(CHD8):c.7345C>T (p.His2449Tyr)	CHD8 (H2449Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 721718	NM_001170629.2(CHD8):c.7338G>A (p.Thr2446=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1961673	NM_001170629.2(CHD8):c.7337C>T (p.Thr2446Met)	CHD8 (T2446M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2893784	NM_001170629.2(CHD8):c.7335C>T (p.Asn2445=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698179	NM_001170629.2(CHD8):c.7329G>A (p.Leu2443=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698180	NM_001170629.2(CHD8):c.7324T>A (p.Ser2442Thr)	CHD8 (S2442T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573461	NM_001170629.2(CHD8):c.7317del (p.Ser2440fs)	CHD8 (S2161fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 975203	NM_001170629.2(CHD8):c.7297A>G (p.Met2433Val)	CHD8 (M2154V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2757887	NM_001170629.2(CHD8):c.7296C>T (p.Leu2432=)	CHD8	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2440016	NM_001170629.2(CHD8):c.7287G>A (p.Met2429Ile)	CHD8 (M2150I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1328818	NM_001170629.2(CHD8):c.7280C>T (p.Ser2427Phe)	CHD8 (S2148F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807157	NM_001170629.2(CHD8):c.7279T>C (p.Ser2427Pro)	CHD8 (S2148P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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

<< First< Prev

Page of 14