ClinVar (all) for Orgtrack (Select 506132) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2446878	NM_003366.4(UQCRC2):c.437T>C (p.Phe146Ser)	PDZD9, UQCRC2 (F146S)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 2446877	NM_003366.4(UQCRC2):c.1189G>A (p.Gly397Arg)	PDZD9, UQCRC2 (G397R)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 932944	NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	CFAP96, UFSP2 (V115E)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 106 +9 more	GConflicting classifications of pathogenicity
Select item 521094	NM_024417.5(FDXR):c.1309G>A (p.Gly437Ser)	FDXR (G443S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 433560	NM_015929.3(LIPT1):c.[131A>G];[875C>G]			Lipoyl transferase 1 deficiency	GPathogenic
Select item 94196	NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln)	KMT2D (P647Q)	Single nucleotide variant (missense variant)	Kabuki syndrome 1 +2 more	GConflicting classifications of pathogenicity

ClinVar