"Revvity Omics, Revvity"[submitter] AND "MSTO1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 504109	NM_018116.4(MSTO1):c.1259del (p.Gly420fs)	MSTO1 (G239fs +4 more)	Deletion (frameshift variant +1 more)	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome +1 more	GPathogenic

ClinVar