ClinVar for Gene (Select 27072) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355928	NM_014396.4(VPS41):c.1128+2T>A	VPS41	Single nucleotide variant (splice donor variant)	VPS41-related condition	GUncertain significance
Select item 3332275	NM_014396.4(VPS41):c.2270G>A (p.Arg757His)	VPS41 (R757H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332274	NM_014396.4(VPS41):c.2482A>G (p.Met828Val)	VPS41 (M828V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332273	NM_014396.4(VPS41):c.614A>G (p.Asn205Ser)	VPS41 (N205S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332272	NM_014396.4(VPS41):c.643C>T (p.Pro215Ser)	VPS41 (P190S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332271	NM_014396.4(VPS41):c.1033C>T (p.Leu345Phe)	VPS41 (L345F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 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 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 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 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 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 3188962	NM_014396.4(VPS41):c.17A>T (p.Glu6Val)	VPS41 (E6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062975	GRCh37/hg19 7p14.1(chr7:38484106-42786613)x1	AMPH, CDK13 +8 more	Copy number loss	not specified	GPathogenic
Select item 2657393	NM_014396.4(VPS41):c.155C>G (p.Thr52Arg)	VPS41 (T52R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2657392	NM_014396.4(VPS41):c.438C>T (p.Thr146=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657391	NM_014396.4(VPS41):c.2376G>A (p.Glu792=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	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 2657389	NM_014396.4(VPS41):c.2439T>C (p.His813=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 2524729	NM_014396.4(VPS41):c.298G>A (p.Gly100Ser)	VPS41 (G100S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 2502449	NM_014396.4(VPS41):c.368T>C (p.Phe123Ser)	VPS41 (F123S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 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 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 2444671	NM_014396.4(VPS41):c.2359+6T>G	VPS41	Single nucleotide variant (intron variant)	not provided	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 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 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 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 2359877	NM_014396.4(VPS41):c.2514_2537dup (p.Ala848_Ile849insLysAsnArgGlyProGlySerAla)	VPS41	Duplication (inframe_insertion)	Inborn genetic diseases	GBenign
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 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 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 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 2320801	NM_014396.4(VPS41):c.1615G>A (p.Val539Ile)	VPS41 (V539I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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
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 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 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 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 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 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 2241997	NM_014396.4(VPS41):c.2405-5G>T	VPS41	Single nucleotide variant (intron 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 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 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1698322	NM_014396.4(VPS41):c.61-1G>A	VPS41	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1527351	GRCh37/hg19 7p14.1(chr7:38883386-39488125)	POU6F2, VPS41	Copy number gain	not specified	GUncertain significance
Select item 1527345	GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473)	ADCYAP1R1, AMPH +53 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340861	GRCh37/hg19 7p14.1(chr7:38728844-40069964)x3	CDK13, POU6F2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1288943	NM_014396.4(VPS41):c.1551-166G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285662	NM_014396.4(VPS41):c.*121A>G	VPS41	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1282659	NM_014396.4(VPS41):c.2405-176T>G	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 1280186	NM_014396.4(VPS41):c.322-68T>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279808	NM_014396.4(VPS41):c.2484+160G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278387	NM_014396.4(VPS41):c.321+146G>A	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278360	NM_014396.4(VPS41):c.1563C>T (p.Asp521=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1276064	NM_014396.4(VPS41):c.61-23A>G	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 1273168	NM_014396.4(VPS41):c.1128+54_1128+57del	VPS41	Deletion (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 1263393	NM_014396.4(VPS41):c.2122+51C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
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 1260450	NM_014396.4(VPS41):c.1012+118C>G	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 1259616	NM_014396.4(VPS41):c.*61A>G	VPS41	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1257590	NM_014396.4(VPS41):c.785-65T>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250671	NM_014396.4(VPS41):c.1981+97C>T	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250036	NM_014396.4(VPS41):c.720G>A (p.Val240=)	VPS41	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1249481	NM_014396.4(VPS41):c.883-198A>G	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246828	NM_014396.4(VPS41):c.322-118C>T	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 1242980	NM_014396.4(VPS41):c.384+166A>C	VPS41	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240634	NM_014396.4(VPS41):c.21+159G>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 1239138	NM_014396.4(VPS41):c.2123-196C>T	VPS41	Single nucleotide variant (intron 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 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

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