"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MPV17"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1065949	NM_002437.5(MPV17):c.428T>G (p.Leu143Ter)	MPV17 (L143*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +2 more	GPathogenic/Likely pathogenic
Select item 424255	NM_002437.5(MPV17):c.408+1G>A	MPV17	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +2 more	GLikely pathogenic
Select item 418309	NM_002437.5(MPV17):c.375G>A (p.Arg125=)	MPV17	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely pathogenic
Select item 38355	NM_002437.5(MPV17):c.293C>T (p.Pro98Leu)	MPV17 (P98L)	Single nucleotide variant (missense variant)	MPV17-related disorder +4 more	GPathogenic
Select item 596898	NM_002437.5(MPV17):c.283G>A (p.Gly95Ser)	MPV17 (G95S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1166440	NM_002437.5(MPV17):c.180C>A (p.Gly60=)	MPV17	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

ClinVar