"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "MPV17"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339192	NM_002437.5(MPV17):c.388G>C (p.Ala130Pro)	MPV17 (A130P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
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)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +4 more	GPathogenic
Select item 290443	NM_002437.5(MPV17):c.280-1dup	MPV17	Duplication (splice acceptor variant)	Charcot-Marie-Tooth disease, axonal, type 2EE +2 more	GConflicting classifications of pathogenicity
Select item 3235053	NM_002437.5(MPV17):c.265A>T (p.Met89Leu)	MPV17 (M89L)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GUncertain significance
Select item 1345696	NM_002437.5(MPV17):c.263A>T (p.Lys88Met)	MPV17 (K88M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 694364	NM_002437.5(MPV17):c.107A>C (p.Gln36Pro)	MPV17 (Q36P)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	GConflicting classifications of pathogenicity

ClinVar