C5193076[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 418311	NM_002437.5(MPV17):c.461G>T (p.Arg154Met)	MPV17 (R154M)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 16164	NM_002437.5(MPV17):c.359G>A (p.Trp120Ter)	MPV17 (W120*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +2 more	GPathogenic/Likely 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 38348	NM_002437.5(MPV17):c.206G>A (p.Trp69Ter)	MPV17 (W69*)	Single nucleotide variant (nonsense)	MPV17-related mitochondrial DNA maintenance defect +3 more	GPathogenic/Likely pathogenic
Select item 381523	NM_002437.5(MPV17):c.191C>G (p.Pro64Arg)	MPV17 (P64R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +3 more	GPathogenic/Likely pathogenic
Select item 626263	NM_002437.5(MPV17):c.122G>A (p.Arg41Gln)	MPV17 (R41Q)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) +3 more	GPathogenic/Likely pathogenic
Select item 214660	NM_002437.5(MPV17):c.121C>T (p.Arg41Trp)	MPV17 (R41W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

ClinVar