kimonis rufescens - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41584	NM_000143.4(FH):c.908T>C (p.Leu303Ser)	FH (L303S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 390255	NM_000143.4(FH):c.907T>G (p.Leu303Val)	FH (L303V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 29705	NM_000143.4(FH):c.521C>G (p.Pro174Arg)	FH	Single nucleotide variant (missense variant)	Fumarase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 280124	NM_007126.5(VCP):c.283C>T (p.Arg95Cys)	VCP (R95C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 209179	NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro)	NUBPL (L104P +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex I deficiency +3 more	GPathogenic/Likely pathogenic
Select item 50216	NM_025152.3(NUBPL):c.693+1G>A	NUBPL	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 50317	NM_025152.3(NUBPL):c.815-27T>C	NUBPL	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 7	NM_025152.2(NUBPL):c.[166G>A;815-27T>C]	NUBPL (G56R)	Single nucleotide variant (intron variant +2 more)	Mitochondrial complex I deficiency	GPathogenic

ClinVar