ClinVar for Gene (Select 57617) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2685509	GRCh37/hg19 15q15.1(chr15:41171132-41262130)x1	CHAC1, DLL4 +1 more	Copy number loss	not provided	GLikely pathogenic
Select item 2645187	NM_020857.3(VPS18):c.2133C>T (p.Arg711=)	VPS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645186	NM_020857.3(VPS18):c.1524C>T (p.Gly508=)	VPS18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617323	NM_020857.3(VPS18):c.161C>T (p.Ser54Phe)	VPS18 (S54F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616243	NM_020857.3(VPS18):c.2023C>G (p.Arg675Gly)	VPS18 (R675G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2609275	NM_020857.3(VPS18):c.181G>C (p.Val61Leu)	VPS18 (V61L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598477	NM_020857.3(VPS18):c.1162C>T (p.Arg388Cys)	VPS18 (R388C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538627	NM_020857.3(VPS18):c.1598A>G (p.Lys533Arg)	VPS18 (K533R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533593	NM_020857.3(VPS18):c.1219C>T (p.Arg407Cys)	VPS18 (R407C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533075	NM_020857.3(VPS18):c.2774C>T (p.Ala925Val)	VPS18 (A925V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527915	NM_020857.3(VPS18):c.44C>T (p.Ser15Leu)	VPS18 (S15L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2516434	NM_020857.3(VPS18):c.493G>A (p.Ala165Thr)	VPS18 (A165T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482721	NM_020857.3(VPS18):c.2036T>G (p.Leu679Arg)	VPS18 (L679R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481461	NM_020857.3(VPS18):c.788G>A (p.Ser263Asn)	VPS18 (S263N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481460	NM_020857.3(VPS18):c.1984G>A (p.Ala662Thr)	VPS18 (A662T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479889	NM_020857.3(VPS18):c.1491G>C (p.Glu497Asp)	VPS18 (E497D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478662	NM_020857.3(VPS18):c.2723C>T (p.Pro908Leu)	VPS18 (P908L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476160	NM_020857.3(VPS18):c.368A>G (p.Tyr123Cys)	VPS18 (Y123C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454297	NM_020857.3(VPS18):c.1293T>A (p.Asp431Glu)	VPS18 (D431E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424553	NC_000015.9:g.(?_40987528)_(41230232_?)dup	ZFYVE19, C15orf62 +9 more	Duplication	not provided	GUncertain significance
Select item 2407116	NM_020857.3(VPS18):c.1564T>C (p.Cys522Arg)	VPS18 (C522R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2395170	NM_020857.3(VPS18):c.1798C>T (p.Pro600Ser)	VPS18 (P600S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391962	NM_020857.3(VPS18):c.1597A>C (p.Lys533Gln)	VPS18 (K533Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375375	NM_020857.3(VPS18):c.557C>T (p.Pro186Leu)	VPS18 (P186L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356729	NM_020857.3(VPS18):c.464G>A (p.Ser155Asn)	VPS18 (S155N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351768	NM_020857.3(VPS18):c.308T>C (p.Met103Thr)	VPS18 (M103T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344730	NM_020857.3(VPS18):c.377G>A (p.Arg126Gln)	VPS18 (R126Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331586	NM_020857.3(VPS18):c.298G>A (p.Val100Ile)	VPS18 (V100I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318979	NM_020857.3(VPS18):c.2081A>G (p.His694Arg)	VPS18 (H694R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318266	NM_020857.3(VPS18):c.303C>A (p.His101Gln)	VPS18 (H101Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308877	NM_020857.3(VPS18):c.548G>T (p.Gly183Val)	VPS18 (G183V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307461	NM_020857.3(VPS18):c.1171G>T (p.Val391Leu)	VPS18 (V391L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2302351	NM_020857.3(VPS18):c.1751C>T (p.Ala584Val)	VPS18 (A584V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291973	NM_020857.3(VPS18):c.117G>T (p.Lys39Asn)	VPS18 (K39N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286732	NM_020857.3(VPS18):c.1271C>T (p.Thr424Met)	VPS18 (T424M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274244	NM_020857.3(VPS18):c.2619G>T (p.Met873Ile)	VPS18 (M873I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260171	NM_020857.3(VPS18):c.520C>G (p.Leu174Val)	VPS18 (L174V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253998	NM_020857.3(VPS18):c.1181A>G (p.Glu394Gly)	VPS18 (E394G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248485	NM_020857.3(VPS18):c.2131C>T (p.Arg711Cys)	VPS18 (R711C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248211	NM_020857.3(VPS18):c.2866G>A (p.Asp956Asn)	VPS18 (D956N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247874	NM_020857.3(VPS18):c.1289C>T (p.Ala430Val)	VPS18 (A430V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244399	NM_020857.3(VPS18):c.2309T>C (p.Val770Ala)	VPS18 (V770A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239151	NM_020857.3(VPS18):c.454G>A (p.Gly152Ser)	VPS18 (G152S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238412	NM_020857.3(VPS18):c.1141T>C (p.Tyr381His)	VPS18 (Y381H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230080	NM_020857.3(VPS18):c.2113G>A (p.Ala705Thr)	VPS18 (A705T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213493	NM_020857.3(VPS18):c.905C>T (p.Pro302Leu)	VPS18 (P302L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211039	NM_020857.3(VPS18):c.1504C>T (p.Arg502Trp)	VPS18 (R502W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210055	NM_020857.3(VPS18):c.1282C>T (p.Arg428Trp)	VPS18 (R428W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208278	NM_020857.3(VPS18):c.2286C>G (p.His762Gln)	VPS18 (H762Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206748	NM_020857.3(VPS18):c.2024G>A (p.Arg675Gln)	VPS18 (R675Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1526445	GRCh37/hg19 15q15.1(chr15:41194121-41452728)	CHAC1, DLL4 +2 more	Copy number gain	not specified	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980032	GRCh37/hg19 15q15.1(chr15:40464942-41196807)x4	DISP2, C15orf62 +23 more	Copy number gain	not provided	GUncertain significance
Select item 791192	NM_020857.3(VPS18):c.1823G>A (p.Arg608His)	VPS18 (R608H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 714592	NM_020857.3(VPS18):c.2310A>G (p.Val770=)	VPS18	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 61