"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PDZD9"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 382034	NM_003366.4(UQCRC2):c.442C>A (p.Arg148Ser)	PDZD9, UQCRC2 (R148S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 380582	NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln)	UQCRC2, PDZD9 (R183Q)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5 +2 more	GBenign
Select item 387755	NM_003366.4(UQCRC2):c.582C>T (p.Asp194=)	UQCRC2, PDZD9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 380590	NM_003366.4(UQCRC2):c.761G>A (p.Arg254His)	PDZD9, UQCRC2 (R254H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 381445	NM_003366.4(UQCRC2):c.1048-7G>C	PDZD9, UQCRC2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3380376	NM_003366.4(UQCRC2):c.1255G>A (p.Val419Met)	PDZD9, UQCRC2 (V419M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380179	NM_003366.4(UQCRC2):c.1281G>A (p.Ala427=)	UQCRC2, PDZD9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

ClinVar