ClinVar for Gene (Select 55154) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3212830	NM_018116.4(MSTO1):c.395G>A (p.Arg132Lys)	MSTO1 (R77K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3212820	NM_018116.4(MSTO1):c.300G>C (p.Lys100Asn)	MSTO1 (A5P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3212812	NM_018116.4(MSTO1):c.1289T>C (p.Leu430Pro)	MSTO1 (L253P +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3067754	NM_018116.4(MSTO1):c.967-3C>T	MSTO1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3067365	NM_018116.4(MSTO1):c.337C>G (p.Pro113Ala)	MSTO1 (P113A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3065172	NM_018116.4(MSTO1):c.305C>T (p.Thr102Ile)	MSTO1 (T102I)	Single nucleotide variant (missense variant +3 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +1 more	GUncertain significance
Select item 3065171	NM_018116.4(MSTO1):c.280G>A (p.Ala94Thr)	MSTO1 (A94T)	Single nucleotide variant (missense variant +2 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 3051196	NM_018116.4(MSTO1):c.804C>T (p.Tyr268=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	MSTO1-related disorder	GLikely benign
Select item 3046331	NM_018116.4(MSTO1):c.735G>A (p.Ala245=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	MSTO1-related disorder	GLikely benign
Select item 3029796	NM_018116.4(MSTO1):c.648T>G (p.His216Gln)	MSTO1 (H161Q +4 more)	Single nucleotide variant (missense variant +1 more)	MSTO1-related disorder	GUncertain significance
Select item 3026846	NM_018116.4(MSTO1):c.523C>T (p.Arg175Trp)	MSTO1 (R120W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3021987	NM_018116.4(MSTO1):c.1388+11C>T	MSTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976688	NM_018116.4(MSTO1):c.1365A>G (p.Gln455=)	MSTO1 (T468A +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2956650	NM_018116.4(MSTO1):c.813+17G>A	MSTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801497	NM_018116.4(MSTO1):c.1197A>G (p.Pro399=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2800120	NM_018116.4(MSTO1):c.1275C>T (p.Cys425=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2782368	NM_018116.4(MSTO1):c.700C>T (p.Leu234=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685830	GRCh37/hg19 1q22(chr1:155426830-155708996)x3	ASH1L, DAP3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2682660	NM_018116.4(MSTO1):c.1054T>C (p.Ser352Pro)	MSTO1 (S171P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662924	NM_018116.4(MSTO1):c.154C>A (p.Arg52Ser)	MSTO1 (R52S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2639433	NM_018116.4(MSTO1):c.1663C>T (p.Leu555=)	MSTO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2639432	NM_018116.4(MSTO1):c.996C>A (p.Ile332=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639431	NM_018116.4(MSTO1):c.579G>A (p.Glu193=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2639430	NM_018116.4(MSTO1):c.51C>G (p.Ala17=)	MSTO1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2632372	NM_018116.4(MSTO1):c.772A>G (p.Ile258Val)	MSTO1 (I203V +4 more)	Single nucleotide variant (missense variant +1 more)	MSTO1-related disorder	GUncertain significance
Select item 2622689	NM_018116.4(MSTO1):c.1459C>G (p.Pro487Ala)	MSTO1 (P309A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605463	NM_018116.4(MSTO1):c.1108G>A (p.Ala370Thr)	MSTO1 (A193T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600634	NM_018116.4(MSTO1):c.920G>T (p.Gly307Val)	MSTO1 (G130V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582865	NM_018116.4(MSTO1):c.1487C>T (p.Pro496Leu)	MSTO1 (P315L +4 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2579626	NM_018116.4(MSTO1):c.989G>A (p.Ser330Asn)	MSTO1 (S149N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572507	NM_018116.4(MSTO1):c.262G>T (p.Asp88Tyr)	MSTO1 (D88Y)	Single nucleotide variant (missense variant +2 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GUncertain significance
Select item 2571791	NM_018116.4(MSTO1):c.100C>T (p.Arg34Ter)	MSTO1 (R34*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2565853	NM_018116.4(MSTO1):c.727G>A (p.Ala243Thr)	MSTO1 (A62T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2550939	NM_018116.4(MSTO1):c.653A>T (p.Tyr218Phe)	MSTO1 (Y37F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530073	NM_018116.4(MSTO1):c.1583C>G (p.Thr528Ser)	MSTO1 (H355Q +15 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525306	NM_018116.4(MSTO1):c.1499C>T (p.Ala500Val)	MSTO1 (A445V +6 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 2456933	NM_018116.4(MSTO1):c.14C>T (p.Ala5Val)	MSTO1 (A5V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2446506	NM_018116.4(MSTO1):c.637G>A (p.Asp213Asn)	MSTO1 (D158N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2441561	NM_018116.4(MSTO1):c.767G>A (p.Arg256Gln)	MSTO1 (R201Q +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GLikely pathogenic
Select item 2433808	NM_018116.4(MSTO1):c.1034G>A (p.Arg345His)	MSTO1 (R164H +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GUncertain significance
Select item 2426444	NC_000001.10:g.(?_155582189)_(155583377_?)dup	MSTO1	Duplication	not provided	GLikely pathogenic
Select item 2426443	NC_000001.10:g.(?_155581953)_(155583377_?)dup	MSTO1	Duplication	not provided	GLikely pathogenic
Select item 2426442	NC_000001.10:g.(?_155581185)_(155581891_?)dup	MSTO1	Duplication	not provided	GUncertain significance
Select item 2426441	NC_000001.10:g.(?_155581953)_(155583377_?)del	MSTO1	Deletion	not provided	GPathogenic
Select item 2425657	NC_000001.10:g.(?_155581953)_(155880552_?)del	DAP3, GON4L +4 more	Deletion	not provided	GPathogenic
Select item 2391572	NM_018116.4(MSTO1):c.97G>C (p.Gly33Arg)	MSTO1 (G33R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2383174	NM_018116.4(MSTO1):c.128G>C (p.Gly43Ala)	MSTO1 (G43A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2382052	NM_018116.4(MSTO1):c.1417A>G (p.Arg473Gly)	MSTO1 (R292G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361601	NM_018116.4(MSTO1):c.1276C>T (p.His426Tyr)	MSTO1 (H426Y +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2358613	NM_018116.4(MSTO1):c.1318C>G (p.Leu440Val)	MSTO1 (L259V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345995	NM_018116.4(MSTO1):c.442G>A (p.Ala148Thr)	MSTO1 (A93T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2325916	NM_018116.4(MSTO1):c.1158T>G (p.Asp386Glu)	MSTO1 (D208E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325218	NM_018116.4(MSTO1):c.1334C>T (p.Thr445Ile)	MSTO1 (T264I +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2324022	NM_018116.4(MSTO1):c.113C>G (p.Ser38Cys)	MSTO1 (S38C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2321187	NM_018116.4(MSTO1):c.700C>G (p.Leu234Val)	MSTO1 (L53V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301126	NM_018116.4(MSTO1):c.1531T>C (p.Cys511Arg)	MSTO1 (C330R +15 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288753	NM_018116.4(MSTO1):c.443C>T (p.Ala148Val)	MSTO1 (A148V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2270703	NM_018116.4(MSTO1):c.370G>A (p.Val124Met)	MSTO1 (V124M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2230414	NM_018116.4(MSTO1):c.1167G>A (p.Met389Ile)	MSTO1 (M212I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229434	NM_018116.4(MSTO1):c.906G>T (p.Leu302Phe)	MSTO1 (L121F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229213	NM_018116.4(MSTO1):c.1A>C (p.Met1Leu)	MSTO1 (M1L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GLikely pathogenic
Select item 2229212	NM_018116.4(MSTO1):c.188A>C (p.Tyr63Ser)	MSTO1 (Y63S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2222613	NM_018116.4(MSTO1):c.944G>A (p.Ser315Asn)	MSTO1 (S134N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2196839	NM_018116.4(MSTO1):c.803A>G (p.Tyr268Cys)	MSTO1 (Y90C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2177151	NM_018116.4(MSTO1):c.875C>T (p.Ala292Val)	MSTO1 (A115V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175236	NM_018116.4(MSTO1):c.861C>T (p.Leu287=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2170288	NM_018116.4(MSTO1):c.679-7C>T	MSTO1	Single nucleotide variant (intron variant)	MSTO1-related disorder +1 more	GLikely benign
Select item 2142931	NM_018116.4(MSTO1):c.366+1G>C	MSTO1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 2132781	NM_018116.4(MSTO1):c.1350G>A (p.Leu450=)	MSTO1 (G463S +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2123642	NM_018116.4(MSTO1):c.813+14A>G	MSTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115269	NM_018116.4(MSTO1):c.816G>A (p.Glu272=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2101017	NM_018116.4(MSTO1):c.814-4C>T	MSTO1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2075309	NM_018116.4(MSTO1):c.780C>T (p.Thr260=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2067904	NM_018116.4(MSTO1):c.930C>T (p.Pro310=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2048375	NM_018116.4(MSTO1):c.862G>A (p.Val288Met)	MSTO1 (V107M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2044444	NM_018116.4(MSTO1):c.895C>A (p.Pro299Thr)	MSTO1 (P121T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2036343	NM_018116.4(MSTO1):c.1329T>C (p.Cys443=)	MSTO1 (Y278H +1 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2028326	NM_018116.4(MSTO1):c.708T>C (p.Asp236=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2025320	NM_018116.4(MSTO1):c.1185C>T (p.Thr395=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2011268	NM_018116.4(MSTO1):c.1328G>A (p.Cys443Tyr)	MSTO1 (C265Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1990266	NM_018116.4(MSTO1):c.1283+22_1283+24del	MSTO1	Deletion (intron variant)	not provided	GBenign
Select item 1987273	NM_018116.4(MSTO1):c.813+16A>C	MSTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1970610	NM_018116.4(MSTO1):c.679-11C>A	MSTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952175	NM_018116.4(MSTO1):c.1099-20G>A	MSTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941519	NM_018116.4(MSTO1):c.1388+12G>A	MSTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932696	NM_018116.4(MSTO1):c.801C>T (p.Pro267=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1910140	NM_018116.4(MSTO1):c.813+19A>G	MSTO1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1909329	NM_018116.4(MSTO1):c.732G>C (p.Lys244Asn)	MSTO1 (K244N +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1902387	NM_018116.4(MSTO1):c.1099-17C>G	MSTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1879095	NM_018116.4(MSTO1):c.1633C>A (p.His545Asn)	MSTO1 (A372E +15 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810197	NM_018116.4(MSTO1):c.725G>A (p.Gly242Asp)	MSTO1 (G187D +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GUncertain significance
Select item 1808454	GRCh37/hg19 1q22(chr1:155489474-156196407)x3	ARHGEF2, ASH1L +18 more	Copy number gain	not provided	GUncertain significance
Select item 1807627	GRCh37/hg19 1q22(chr1:155430631-155638366)x3	ASH1L, MSTO1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1723003	NM_018116.4(MSTO1):c.1511dup (p.Val506fs)	MSTO1 (P332fs +15 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1710255	NM_018116.4(MSTO1):c.716C>A (p.Ser239Tyr)	MSTO1 (S184Y +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GUncertain significance
Select item 1699858	NM_018116.4(MSTO1):c.1060G>T (p.Val354Phe)	MSTO1 (V173F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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