55154[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 187

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 57458	GRCh38/hg38 1q22(chr1:155182457-155787428)x3	ASH1L, ASH1L-AS1 +45 more	Copy number gain	See cases	GUncertain significance
Select item 1260671	NC_000001.11:g.155609989C>T	MSTO1	Single nucleotide variant	not provided	GBenign
Select item 1287807	NC_000001.11:g.155610040C>T	MSTO1	Single nucleotide variant	not provided	GBenign
Select item 1260840	NC_000001.11:g.155610044A>G	MSTO1	Single nucleotide variant	not provided	GBenign
Select item 1270238	NC_000001.11:g.155610046del	MSTO1	Deletion	not provided	GBenign
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 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 438835	NM_018116.4(MSTO1):c.22G>A (p.Val8Met)	MSTO1 (V8M)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1698232	NM_018116.4(MSTO1):c.34C>G (p.Gln12Glu)	MSTO1 (Q12E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1098810	NM_018116.4(MSTO1):c.44A>G (p.His15Arg)	MSTO1 (H15R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 1693163	NM_018116.4(MSTO1):c.65C>A (p.Ala22Glu)	MSTO1 (A22E)	Single nucleotide variant (5 prime UTR variant +2 more)	See cases	GLikely pathogenic
Select item 987950	NM_018116.4(MSTO1):c.79C>T (p.Gln27Ter)	MSTO1 (Q27*)	Single nucleotide variant (nonsense +2 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	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 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 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 1288287	NM_018116.4(MSTO1):c.121C>A (p.Pro41Thr)	MSTO1 (P41T)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 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 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 1693164	NM_018116.4(MSTO1):c.220+5G>C	MSTO1	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	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 3065171	NM_018116.4(MSTO1):c.280G>A (p.Ala94Thr)	MSTO1 (A94T)	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GUncertain significance
Select item 711292	NM_018116.4(MSTO1):c.293A>G (p.Gln98Arg)	MSTO1 (Q98R)	Single nucleotide variant (missense variant +3 more)	not provided	GConflicting classifications of pathogenicity
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 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 775607	NM_018116.4(MSTO1):c.322C>T (p.Leu108Phe)	MSTO1 (L108F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
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 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 1271326	NM_018116.4(MSTO1):c.367-29T>C	MSTO1 (L58P)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
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 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 1676832	NM_018116.4(MSTO1):c.422-3C>G	MSTO1	Single nucleotide variant (intron variant)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	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 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 713032	NM_018116.4(MSTO1):c.489C>G (p.Val163=)	MSTO1	Single nucleotide variant (synonymous variant +2 more)	MSTO1-related disorder +1 more	GLikely benign
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 1018118	NM_018116.4(MSTO1):c.560G>A (p.Gly187Glu)	MSTO1 (G132E +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1277376	NM_018116.4(MSTO1):c.561-17A>G	MSTO1 (M1V)	Single nucleotide variant (missense variant +2 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +1 more	GBenign
Select item 830044	NM_018116.4(MSTO1):c.571C>T (p.Arg191Trp)	MSTO1 (R13W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 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 1310268	NM_018116.4(MSTO1):c.647A>G (p.His216Arg)	MSTO1 (H161R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 684407	NM_018116.4(MSTO1):c.651C>G (p.Phe217Leu)	MSTO1 (F162L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 522862	NM_018116.4(MSTO1):c.676C>T (p.Gln226Ter)	MSTO1 (Q226* +4 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GLikely pathogenic
Select item 1634285	NM_018116.4(MSTO1):c.679-20T>C	MSTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970610	NM_018116.4(MSTO1):c.679-11C>A	MSTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2170288	NM_018116.4(MSTO1):c.679-7C>T	MSTO1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1650651	NM_018116.4(MSTO1):c.679-6G>A	MSTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1608401	NM_018116.4(MSTO1):c.679-5T>C	MSTO1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 977147	NM_018116.4(MSTO1):c.706G>C (p.Asp236His)	MSTO1 (D181H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 977140	NM_018116.4(MSTO1):c.707A>G (p.Asp236Gly)	MSTO1 (D181G +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GUncertain significance
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 1329808	NM_018116.4(MSTO1):c.709G>A (p.Gly237Ser)	MSTO1 (G182S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	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 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 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 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 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 3337299	NM_018116.4(MSTO1):c.766C>T (p.Arg256Trp)	MSTO1 (R201W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1334866	NM_018116.4(MSTO1):c.766C>G (p.Arg256Gly)	MSTO1 (R201G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 1932696	NM_018116.4(MSTO1):c.801C>T (p.Pro267=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided	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)	not provided +1 more	GUncertain significance
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 1668571	NM_018116.4(MSTO1):c.810T>A (p.Arg270=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2123642	NM_018116.4(MSTO1):c.813+14A>G	MSTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987273	NM_018116.4(MSTO1):c.813+16A>C	MSTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2956650	NM_018116.4(MSTO1):c.813+17G>A	MSTO1	Single nucleotide variant (intron variant)	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 2101017	NM_018116.4(MSTO1):c.814-4C>T	MSTO1	Single nucleotide variant (intron variant)	not provided +1 more	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 1588803	NM_018116.4(MSTO1):c.833A>G (p.Tyr278Cys)	MSTO1 (Y100C +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 590277	NM_018116.4(MSTO1):c.836G>A (p.Arg279His)	MSTO1 (R279H +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +1 more	GConflicting classifications of pathogenicity
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 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 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 1334804	NM_018116.4(MSTO1):c.884C>T (p.Ser295Phe)	MSTO1 (S114F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 985820	NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)	MSTO1 (L115fs +4 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
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 870582	NM_018116.4(MSTO1):c.898T>G (p.Leu300Val)	MSTO1 (L119V +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 3296493	NM_018116.4(MSTO1):c.907G>A (p.Gly303Ser)	MSTO1 (G125S +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 2067904	NM_018116.4(MSTO1):c.930C>T (p.Pro310=)	MSTO1	Single nucleotide variant (synonymous variant +1 more)	MSTO1-related disorder +1 more	GLikely benign
Select item 1415994	NM_018116.4(MSTO1):c.931G>A (p.Glu311Lys)	MSTO1 (E133K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3339368	NM_018116.4(MSTO1):c.943_948del (p.Ser315_Phe316del)	MSTO1	Deletion (inframe_deletion +1 more)	not specified	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 438834	NM_018116.4(MSTO1):c.966+1G>A	MSTO1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1557975	NM_018116.4(MSTO1):c.966+19G>T	MSTO1	Single nucleotide variant (intron variant)	not provided	GBenign
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 438833	NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)	MSTO1 (T324I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

<< First< Prev

Page of 2