ClinVar for MedGen (Select 1620960) - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336212	NM_018116.4(MSTO1):c.1190G>A (p.Trp397Ter)	MSTO1 (W216* +4 more)	Single nucleotide variant (nonsense +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GPathogenic
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 (5 prime UTR variant +2 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 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 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 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 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 1691765	NM_018116.4(MSTO1):c.1435C>T (p.Pro479Ser)	MSTO1 (P298S +6 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1684294	NM_018116.4(MSTO1):c.1600C>T (p.Arg534Cys)	MSTO1 (A361V +15 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +1 more	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 1286450	NM_018116.4(MSTO1):c.1426C>T (p.Pro476Ser)	MSTO1 (P295S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
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 1033468	NM_018116.4(MSTO1):c.1229G>A (p.Arg410His)	MSTO1 (R232H +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1033467	NM_018116.4(MSTO1):c.1059G>A (p.Met353Ile)	MSTO1 (M172I +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +1 more	GUncertain significance
Select item 1033466	NM_018116.4(MSTO1):c.1024G>A (p.Val342Ile)	MSTO1 (V342I +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GUncertain significance
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 987949	NM_018116.4(MSTO1):c.1099-1G>A	MSTO1	Single nucleotide variant (splice acceptor variant)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GPathogenic
Select item 985820	NM_018116.4(MSTO1):c.887_888del (p.Leu296fs)	MSTO1 (L115fs +4 more)	Deletion (frameshift variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +3 more	GPathogenic/Likely pathogenic
Select item 977147	NM_018116.4(MSTO1):c.706G>C (p.Asp236His)	MSTO1 (D181H +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +2 more	GPathogenic/Likely pathogenic
Select item 977146	NM_018116.4(MSTO1):c.1433A>G (p.Tyr478Cys)	MSTO1 (Y297C +4 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GUncertain significance
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 870581	NM_018116.4(MSTO1):c.1021A>G (p.Thr341Ala)	MSTO1 (T160A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 684407	NM_018116.4(MSTO1):c.651C>G (p.Phe217Leu)	MSTO1 (F162L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn mitochondrial myopathy +2 more	GConflicting classifications of pathogenicity
Select item 590277	NM_018116.4(MSTO1):c.836G>A (p.Arg279His)	MSTO1 (R279H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 504109	NM_018116.4(MSTO1):c.1259del (p.Gly420fs)	MSTO1 (G239fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
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 438834	NM_018116.4(MSTO1):c.966+1G>A	MSTO1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 438833	NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)	MSTO1 (T324I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 438832	NM_018116.4(MSTO1):c.1128C>A (p.Phe376Leu)	MSTO1 (F376L +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GPathogenic
Select item 438831	NM_018116.4(MSTO1):c.1033C>T (p.Arg345Cys)	MSTO1 (R345C +4 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	GPathogenic

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Links from MedGen

Items: 34