VPS41[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 1285662	NM_014396.4(VPS41):c.*121A>G	VPS41	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1259616	NM_014396.4(VPS41):c.*61A>G	VPS41	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2278382	NM_014396.4(VPS41):c.2557A>G (p.Lys853Glu)	VPS41 (K828E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188968	NM_014396.4(VPS41):c.2555T>C (p.Met852Thr)	VPS41 (M827T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188967	NM_014396.4(VPS41):c.2554A>G (p.Met852Val)	VPS41 (M827V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359877	NM_014396.4(VPS41):c.2514_2537dup (p.Ala848_Ile849insLysAsnArgGlyProGlySerAla)	VPS41	Duplication (inframe_insertion)	Inborn genetic diseases	GBenign
Select item 2540039	NM_014396.4(VPS41):c.2517T>A (p.Ser839Arg)	VPS41 (S839R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217745	NM_014396.4(VPS41):c.2495C>T (p.Ala832Val)	VPS41 (A807V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1279808	NM_014396.4(VPS41):c.2484+160G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2657389	NM_014396.4(VPS41):c.2439T>C (p.His813=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3188966	NM_014396.4(VPS41):c.2425G>A (p.Val809Met)	VPS41 (V809M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2657390	NM_014396.4(VPS41):c.2418C>T (p.Pro806=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2568472	NM_014396.4(VPS41):c.2411C>G (p.Ala804Gly)	VPS41 (A779G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241997	NM_014396.4(VPS41):c.2405-5G>T	VPS41	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1282659	NM_014396.4(VPS41):c.2405-176T>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2657391	NM_014396.4(VPS41):c.2376G>A (p.Glu792=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1175719	NM_014396.4(VPS41):c.2372G>T (p.Cys791Phe)	VPS41 (C791F +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 29	GPathogenic
Select item 3188965	NM_014396.4(VPS41):c.2371T>C (p.Cys791Arg)	VPS41 (C766R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444671	NM_014396.4(VPS41):c.2359+6T>G	VPS41	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3188964	NM_014396.4(VPS41):c.2293G>A (p.Val765Ile)	VPS41 (V740I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2310607	NM_014396.4(VPS41):c.2186G>A (p.Arg729His)	VPS41 (R704H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1230897	NM_014396.4(VPS41):c.2123-101G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273716	NM_014396.4(VPS41):c.2123-129A>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273568	NM_014396.4(VPS41):c.2123-133A>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239138	NM_014396.4(VPS41):c.2123-196C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224190	NM_014396.4(VPS41):c.2122+105T>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245939	NM_014396.4(VPS41):c.2122+97G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239332	NM_014396.4(VPS41):c.2122+58T>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263393	NM_014396.4(VPS41):c.2122+51C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2508104	NM_014396.4(VPS41):c.2078G>A (p.Gly693Glu)	VPS41 (G693E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456999	NM_014396.4(VPS41):c.2048C>T (p.Ala683Val)	VPS41 (A658V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531794	NM_014396.4(VPS41):c.2033A>G (p.His678Arg)	VPS41 (H678R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431434	NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)	VPS41 (R642* +1 more)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia, autosomal recessive 29	GLikely pathogenic
Select item 2333897	NM_014396.4(VPS41):c.1985G>A (p.Arg662Gln)	VPS41 (R637Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1175721	NM_014396.4(VPS41):c.1984C>T (p.Arg662Ter)	VPS41 (R637* +1 more)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia, autosomal recessive 29	GPathogenic
Select item 1250671	NM_014396.4(VPS41):c.1981+97C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3188963	NM_014396.4(VPS41):c.1936A>G (p.Ile646Val)	VPS41 (I621V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1175722	NM_014396.4(VPS41):c.1898G>C (p.Arg633Pro)	VPS41 (R633P +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 29	GPathogenic
Select item 2212547	NM_014396.4(VPS41):c.1832G>A (p.Arg611His)	VPS41 (R611H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329402	NM_014396.4(VPS41):c.1789T>C (p.Tyr597His)	VPS41 (Y572H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296620	NM_014396.4(VPS41):c.1786G>T (p.Val596Leu)	VPS41 (V571L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320801	NM_014396.4(VPS41):c.1615G>A (p.Val539Ile)	VPS41 (V539I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1278360	NM_014396.4(VPS41):c.1563C>T (p.Asp521=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1288943	NM_014396.4(VPS41):c.1551-166G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280860	NM_014396.4(VPS41):c.1550+133C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3188961	NM_014396.4(VPS41):c.1541T>A (p.Leu514Gln)	VPS41 (L489Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320985	NM_014396.4(VPS41):c.1456G>T (p.Asp486Tyr)	VPS41 (D461Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1175720	NM_014396.4(VPS41):c.1423-2A>G	VPS41	Single nucleotide variant (splice acceptor variant)	Spinocerebellar ataxia, autosomal recessive 29	GPathogenic
Select item 3188960	NM_014396.4(VPS41):c.1421A>T (p.Glu474Val)	VPS41 (E474V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364905	NM_014396.4(VPS41):c.1391T>C (p.Ile464Thr)	VPS41 (I439T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457058	NM_014396.4(VPS41):c.1387A>G (p.Met463Val)	VPS41 (M438V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286564	NM_014396.4(VPS41):c.1354G>A (p.Gly452Ser)	VPS41 (G452S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1225371	NM_014396.4(VPS41):c.1329+174_1329+175insC	VPS41	Insertion (intron variant)	not provided	GBenign
Select item 1227656	NM_014396.4(VPS41):c.1329+100del	VPS41	Deletion (intron variant)	not provided	GBenign
Select item 2616410	NM_014396.4(VPS41):c.1308T>G (p.Phe436Leu)	VPS41 (F436L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1260776	NM_014396.4(VPS41):c.1294G>A (p.Glu432Lys)	VPS41 (E407K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2542982	NM_014396.4(VPS41):c.1292A>G (p.Tyr431Cys)	VPS41 (Y431C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2499038	NM_014396.4(VPS41):c.1246C>T (p.Arg416Cys)	VPS41 (R391C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 707945	NM_014396.4(VPS41):c.1215G>C (p.Leu405=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2525697	NM_014396.4(VPS41):c.1207A>G (p.Asn403Asp)	VPS41 (N378D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399091	NM_014396.4(VPS41):c.1178A>T (p.Lys393Met)	VPS41 (K368M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1229328	NM_014396.4(VPS41):c.1129-40dup	VPS41	Duplication (intron variant)	not provided	GBenign
Select item 1273168	NM_014396.4(VPS41):c.1128+54_1128+57del	VPS41	Deletion (intron variant)	not provided	GBenign
Select item 1227386	NM_014396.4(VPS41):c.1012+125T>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260450	NM_014396.4(VPS41):c.1012+118C>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235181	NM_014396.4(VPS41):c.1012+50del	VPS41	Deletion (intron variant)	not provided	GBenign
Select item 1231650	NM_014396.4(VPS41):c.1012+38A>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178944	NM_014396.4(VPS41):c.1012+4G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2594855	NM_014396.4(VPS41):c.1007A>G (p.His336Arg)	VPS41 (H336R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1249481	NM_014396.4(VPS41):c.883-198A>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272913	NM_014396.4(VPS41):c.882+167C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175718	NM_014396.4(VPS41):c.853T>C (p.Ser285Pro)	VPS41 (S285P +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia, autosomal recessive 29	GPathogenic
Select item 3188974	NM_014396.4(VPS41):c.792G>T (p.Gln264His)	VPS41 (Q239H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188973	NM_014396.4(VPS41):c.791A>T (p.Gln264Leu)	VPS41 (Q239L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243822	NM_014396.4(VPS41):c.791A>G (p.Gln264Arg)	VPS41 (Q239R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1257590	NM_014396.4(VPS41):c.785-65T>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183416	NM_014396.4(VPS41):c.785-111C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260173	NM_014396.4(VPS41):c.784+54G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2484511	NM_014396.4(VPS41):c.730A>C (p.Lys244Gln)	VPS41 (K219Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1250036	NM_014396.4(VPS41):c.720G>A (p.Val240=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1235994	NM_014396.4(VPS41):c.717+197G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181871	NM_014396.4(VPS41):c.717+30G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2266311	NM_014396.4(VPS41):c.710C>A (p.Ser237Tyr)	VPS41 (S237Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188972	NM_014396.4(VPS41):c.694A>G (p.Ile232Val)	VPS41 (I207V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359163	NM_014396.4(VPS41):c.622C>T (p.Arg208Trp)	VPS41 (R183W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3188971	NM_014396.4(VPS41):c.571G>A (p.Gly191Ser)	VPS41 (G166S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188970	NM_014396.4(VPS41):c.571-1G>A	VPS41	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GUncertain significance
Select item 2382370	NM_014396.4(VPS41):c.560C>T (p.Ala187Val)	VPS41 (A162V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1220843	NM_014396.4(VPS41):c.450+53C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1065412	NM_014396.4(VPS41):c.450+1G>T	VPS41	Single nucleotide variant (splice donor variant)	Spinocerebellar ataxia, autosomal recessive 29	GPathogenic
Select item 2657392	NM_014396.4(VPS41):c.438C>T (p.Thr146=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2522104	NM_014396.4(VPS41):c.415T>C (p.Ser139Pro)	VPS41 (S114P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311365	NM_014396.4(VPS41):c.394G>C (p.Val132Leu)	VPS41 (V107L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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