"Baylor Genetics"[submitter] AND "MTFMT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031156	NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del)	MTFMT (K377del)	Microsatellite (inframe_deletion)	Mitochondrial complex 1 deficiency, nuclear type 27 +2 more	GUncertain significance
Select item 39827	NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)	MTFMT (S209L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +10 more	GPathogenic
Select item 1027739	NM_139242.4(MTFMT):c.466C>T (p.Pro156Ser)	MTFMT (P156S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15	GUncertain significance
Select item 1027738	NM_139242.4(MTFMT):c.460C>T (p.Arg154Cys)	MTFMT (R154C)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15	GUncertain significance
Select item 1027737	NM_139242.4(MTFMT):c.419+3A>G	MTFMT	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 39829	NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu)	MTFMT (S125L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 15	GPathogenic/Likely pathogenic
Select item 1031157	NM_139242.4(MTFMT):c.34C>A (p.Pro12Thr)	MTFMT (P12T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

ClinVar