ClinVar for Gene (Select 137492) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3332252	NM_152415.3(VPS37A):c.340A>C (p.Lys114Gln)	VPS37A (K114Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332251	NM_152415.3(VPS37A):c.932T>A (p.Phe311Tyr)	VPS37A (F305Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332250	NM_152415.3(VPS37A):c.986C>T (p.Ala329Val)	VPS37A (A323V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332249	NM_152415.3(VPS37A):c.187A>G (p.Ile63Val)	VPS37A (I63V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3296721	NM_004686.5(MTMR7):c.1460A>C (p.His487Pro)	MTMR7, VPS37A (H487P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296720	NM_004686.5(MTMR7):c.1325A>G (p.Asn442Ser)	MTMR7, VPS37A (N442S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296719	NM_004686.5(MTMR7):c.1823A>G (p.Asp608Gly)	MTMR7, VPS37A (D608G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296718	NM_004686.5(MTMR7):c.1895G>C (p.Cys632Ser)	MTMR7, VPS37A (C632S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245524	NC_000008.10:g.(?_17133886)_(17133996_?)del	VPS37A	Deletion	Hereditary spastic paraplegia 53	GUncertain significance
Select item 3216660	NM_004686.5(MTMR7):c.950T>C (p.Met317Thr)	MTMR7, VPS37A (M317T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216656	NM_004686.5(MTMR7):c.874C>T (p.Leu292Phe)	MTMR7, VPS37A (L292F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216576	NM_004686.5(MTMR7):c.1897C>T (p.Arg633Trp)	MTMR7, VPS37A (R633W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216572	NM_004686.5(MTMR7):c.1751G>T (p.Gly584Val)	MTMR7, VPS37A (G584V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216569	NM_004686.5(MTMR7):c.1751G>A (p.Gly584Glu)	MTMR7, VPS37A (G584E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216561	NM_004686.5(MTMR7):c.1630A>G (p.Lys544Glu)	MTMR7, VPS37A (K544E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216553	NM_004686.5(MTMR7):c.1536G>T (p.Gln512His)	MTMR7, VPS37A (Q512H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216521	NM_004686.5(MTMR7):c.1153T>A (p.Tyr385Asn)	MTMR7, VPS37A (Y385N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3216514	NM_004686.5(MTMR7):c.1100T>C (p.Met367Thr)	MTMR7, VPS37A (M367T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3188928	NM_152415.3(VPS37A):c.172A>G (p.Ile58Val)	VPS37A (I58V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3188927	NM_152415.3(VPS37A):c.1159A>T (p.Ile387Leu)	VPS37A (I297L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065769	NM_152415.3(VPS37A):c.898A>C (p.Lys300Gln)	VPS37A (K210Q +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 3063045	GRCh37/hg19 8p22(chr8:17143958-17240438)x1	MTMR7, VPS37A	Copy number loss	not specified	GUncertain significance
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3044627	NM_004686.5(MTMR7):c.1749T>G (p.Ser583Arg)	MTMR7, VPS37A (S583R)	Single nucleotide variant (missense variant +1 more)	MTMR7-related disorder	GLikely benign
Select item 3042663	NM_004686.5(MTMR7):c.1565T>C (p.Met522Thr)	VPS37A, MTMR7 (M522T)	Single nucleotide variant (missense variant +1 more)	MTMR7-related disorder	GLikely benign
Select item 3042315	NM_152415.3(VPS37A):c.174A>T (p.Ile58=)	VPS37A	Single nucleotide variant (synonymous variant +2 more)	VPS37A-related disorder	GLikely benign
Select item 3035557	NM_004686.5(MTMR7):c.1036G>A (p.Ala346Thr)	MTMR7, VPS37A (A346T)	Single nucleotide variant (missense variant +1 more)	MTMR7-related disorder	GLikely benign
Select item 3034900	NM_004686.5(MTMR7):c.1185C>T (p.Ile395=)	MTMR7, VPS37A	Single nucleotide variant (synonymous variant +1 more)	MTMR7-related disorder	GLikely benign
Select item 2990185	NM_152415.3(VPS37A):c.201-10C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2989399	NM_152415.3(VPS37A):c.159A>G (p.Arg53=)	VPS37A	Single nucleotide variant (synonymous variant +2 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2919200	NM_152415.3(VPS37A):c.417-20T>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2918221	NM_152415.3(VPS37A):c.125+11_125+15del	VPS37A	Deletion (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2913011	NM_152415.3(VPS37A):c.989T>G (p.Leu330Arg)	VPS37A (L330R +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53 +1 more	GUncertain significance
Select item 2912292	NM_152415.3(VPS37A):c.545CAA[2] (p.Thr184del)	VPS37A (T159del +2 more)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2884363	NM_152415.3(VPS37A):c.676G>C (p.Asp226His)	VPS37A (D226H +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2884147	NM_152415.3(VPS37A):c.777G>A (p.Leu259=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2878346	NM_152415.3(VPS37A):c.1191A>G (p.Leu397=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2864011	NM_152415.3(VPS37A):c.865A>C (p.Ser289Arg)	VPS37A (S264R +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2860669	NM_152415.3(VPS37A):c.417-17_417-15del	VPS37A	Microsatellite (intron variant)	Hereditary spastic paraplegia 53	GBenign
Select item 2859660	NM_152415.3(VPS37A):c.600A>T (p.Ser200=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2829538	NM_152415.3(VPS37A):c.915A>G (p.Thr305=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2829537	NM_152415.3(VPS37A):c.737A>T (p.Asn246Ile)	VPS37A (N221I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2822973	NM_152415.3(VPS37A):c.258A>G (p.Ile86Met)	VPS37A (I86M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2818617	NM_152415.3(VPS37A):c.571C>G (p.Pro191Ala)	VPS37A (P101A +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2812149	NM_152415.3(VPS37A):c.801C>T (p.Thr267=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2810998	NM_152415.3(VPS37A):c.817G>A (p.Val273Ile)	VPS37A (V183I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2770643	NM_152415.3(VPS37A):c.841+19G>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2756772	NM_152415.3(VPS37A):c.1113+13C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2753636	NM_152415.3(VPS37A):c.656G>A (p.Gly219Asp)	VPS37A (G194D +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2740450	NM_152415.3(VPS37A):c.438G>A (p.Gly146=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2733498	NM_152415.3(VPS37A):c.975T>C (p.Cys325=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2726718	NM_152415.3(VPS37A):c.163C>A (p.Pro55Thr)	VPS37A (P55T)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2720609	NM_152415.3(VPS37A):c.512C>T (p.Thr171Ile)	VPS37A (T171I +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2719530	NM_152415.3(VPS37A):c.841+12C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2714793	NM_152415.3(VPS37A):c.912T>C (p.Leu304=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2694979	NM_152415.3(VPS37A):c.75C>G (p.Leu25=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2694964	NM_152415.3(VPS37A):c.1114-18C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2685301	GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1	HR, MIR320A +95 more	Copy number loss	not provided	GPathogenic
Select item 2684530	GRCh37/hg19 8p22(chr8:16438155-17255355)x3	CNOT7, FGF20 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684529	GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3	ADAM18, ADAM2 +176 more	Copy number gain	not provided	GPathogenic
Select item 2684528	GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3	ADAM28, ADAM7 +145 more	Copy number gain	not provided	GPathogenic
Select item 2684526	GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3	ADAM28, ADAM7 +140 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2683003	NM_152415.3(VPS37A):c.1154A>C (p.Gln385Pro)	VPS37A (Q289P +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683002	NM_152415.3(VPS37A):c.449A>T (p.Tyr150Phe)	VPS37A (Y125F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682263	NM_152415.3(VPS37A):c.1113+1G>A	VPS37A	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 2671608	Single allele	ADAM18, ADAM2 +180 more	Duplication	not provided	GPathogenic
Select item 2622612	NM_152415.3(VPS37A):c.955C>A (p.His319Asn)	VPS37A (H313N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621719	NM_004686.5(MTMR7):c.1615G>C (p.Glu539Gln)	MTMR7, VPS37A (E539Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617288	NM_004686.5(MTMR7):c.1945G>T (p.Asp649Tyr)	MTMR7, VPS37A (D649Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603254	NM_152415.3(VPS37A):c.406G>A (p.Ala136Thr)	VPS37A (A136T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 2542090	NM_004686.5(MTMR7):c.1196T>C (p.Ile399Thr)	MTMR7, VPS37A (I399T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528916	NM_004686.5(MTMR7):c.1570G>A (p.Val524Met)	MTMR7, VPS37A (V524M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527703	NM_152415.3(VPS37A):c.77A>C (p.Gln26Pro)	VPS37A (Q26P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493869	NM_004686.5(MTMR7):c.1931A>C (p.Glu644Ala)	MTMR7, VPS37A (E644A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490000	NM_004686.5(MTMR7):c.1411C>G (p.Leu471Val)	MTMR7, VPS37A (L471V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484709	NM_152415.3(VPS37A):c.667A>C (p.Lys223Gln)	VPS37A (K133Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483309	NM_004686.5(MTMR7):c.1604T>G (p.Leu535Arg)	MTMR7, VPS37A (L535R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477226	NM_152415.3(VPS37A):c.1094G>A (p.Ser365Asn)	VPS37A (S340N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470029	NM_004686.5(MTMR7):c.1082G>A (p.Arg361Gln)	MTMR7, VPS37A (R361Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426516	NC_000008.10:g.(?_16850399)_(17885171_?)dup	CNOT7, FGF20 +9 more	Duplication	not provided	GUncertain significance
Select item 2425362	NM_152415.3(VPS37A):c.643-11C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2421066	NM_152415.3(VPS37A):c.417-9T>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2415747	NM_152415.3(VPS37A):c.126-16A>C	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2414195	NM_152415.3(VPS37A):c.125+15C>T	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53	GLikely benign
Select item 2413407	NM_152415.3(VPS37A):c.685G>T (p.Asp229Tyr)	VPS37A (D139Y +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53	GUncertain significance
Select item 2410882	NM_004686.5(MTMR7):c.1736C>A (p.Pro579His)	MTMR7, VPS37A (P579H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410577	NM_004686.5(MTMR7):c.1259A>G (p.Asn420Ser)	MTMR7, VPS37A (N420S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403930	NM_004686.5(MTMR7):c.1487T>C (p.Met496Thr)	MTMR7, VPS37A (M496T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389602	NM_004686.5(MTMR7):c.1664T>C (p.Val555Ala)	MTMR7, VPS37A (V555A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374248	NM_004686.5(MTMR7):c.1516C>T (p.Arg506Cys)	MTMR7, VPS37A (R506C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335570	NM_152415.3(VPS37A):c.577G>A (p.Ala193Thr)	VPS37A (A168T +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53 +1 more	GUncertain significance
Select item 2307157	NM_004686.5(MTMR7):c.859C>G (p.Leu287Val)	MTMR7, VPS37A (L287V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2306748	NM_004686.5(MTMR7):c.1966G>C (p.Val656Leu)	VPS37A, MTMR7 (V656L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287737	NM_004686.5(MTMR7):c.1898G>C (p.Arg633Pro)	MTMR7, VPS37A (R633P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269192	NM_152415.3(VPS37A):c.1076T>C (p.Ile359Thr)	VPS37A (I269T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250853	NM_152415.3(VPS37A):c.670A>T (p.Met224Leu)	VPS37A (M134L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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