"GeneDx"[submitter] AND "MSTO1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 438835	NM_018116.4(MSTO1):c.22G>A (p.Val8Met)	MSTO1 (V8M)	Single nucleotide variant (missense variant +2 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +1 more	GConflicting classifications of pathogenicity
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 2571791	NM_018116.4(MSTO1):c.100C>T (p.Arg34Ter)	MSTO1 (R34*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 3370226	NM_018116.4(MSTO1):c.119A>T (p.Glu40Val)	MSTO1 (E40V)	Single nucleotide variant (missense variant +2 more)	not provided	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 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 1271326	NM_018116.4(MSTO1):c.367-29T>C	MSTO1 (L58P)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
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 3364153	NM_018116.4(MSTO1):c.592G>C (p.Gly198Arg)	MSTO1 (G143R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 684407	NM_018116.4(MSTO1):c.651C>G (p.Phe217Leu)	MSTO1 (F162L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +2 more	GConflicting classifications of pathogenicity
Select item 977147	NM_018116.4(MSTO1):c.706G>C (p.Asp236His)	MSTO1 (D181H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn mitochondrial myopathy +2 more	GPathogenic/Likely pathogenic
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 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 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)	not provided +1 more	GPathogenic/Likely pathogenic
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 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
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 1329804	NM_018116.4(MSTO1):c.1367A>C (p.Gln456Pro)	MSTO1 (Q275P +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	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 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 1311103	NM_018116.4(MSTO1):c.1442T>G (p.Leu481Arg)	MSTO1 (L300R +4 more)	Single nucleotide variant (missense variant +2 more)	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 1289453	NM_018116.4(MSTO1):c.1586A>G (p.Lys529Arg)	MSTO1 (K337R +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1290043	NM_018116.4(MSTO1):c.1591G>A (p.Asp531Asn)	MSTO1 (D339N +15 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3378116	NM_018116.4(MSTO1):c.1685A>G (p.Tyr562Cys)	MSTO1 (Y370C +9 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 253835	GRCh37/hg19 1q22(chr1:155412745-155755215)x3	YY1AP1, ASH1L +3 more	Copy number gain	See cases	GUncertain significance

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Items: 33