ClinVar for MedGen (Select 767522) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068275	NM_003366.4(UQCRC2):c.117+1G>T	UQCRC2	Single nucleotide variant (splice donor variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 2506293	NM_003366.4(UQCRC2):c.729dup (p.Leu244fs)	PDZD9, UQCRC2 (L244fs)	Duplication (frameshift variant)	Mitochondrial complex III deficiency nuclear type 5	GLikely pathogenic
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 2444151	NM_003366.4(UQCRC2):c.1254dup (p.Val419fs)	PDZD9, UQCRC2 (V419fs)	Duplication (frameshift variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 2438492	NM_003366.4(UQCRC2):c.206G>A (p.Ser69Asn)	UQCRC2 (S69N)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 1254725	NM_003366.4(UQCRC2):c.266T>C (p.Leu89Pro)	PDZD9, UQCRC2 (L89P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1177305	NM_003366.4(UQCRC2):c.323G>A (p.Gly108Asp)	PDZD9, UQCRC2 (G108D)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GPathogenic
Select item 1032124	NM_003366.4(UQCRC2):c.661A>T (p.Ile221Phe)	PDZD9, UQCRC2 (I221F)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 1029699	NM_003366.4(UQCRC2):c.1228T>C (p.Ser410Pro)	PDZD9, UQCRC2 (S410P)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GUncertain significance
Select item 996066	NM_003366.4(UQCRC2):c.665G>C (p.Gly222Ala)	PDZD9, UQCRC2 (G222A)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5	GPathogenic
Select item 775106	NM_003366.4(UQCRC2):c.953A>C (p.Gln318Pro)	UQCRC2, PDZD9 (Q318P)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5 +1 more	GLikely benign
Select item 430295	NM_003366.4(UQCRC2):c.361T>C (p.Tyr121His)	PDZD9, UQCRC2 (Y121H)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5 +1 more	GConflicting classifications of pathogenicity
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 41880	NM_003366.4(UQCRC2):c.547C>T (p.Arg183Trp)	UQCRC2, PDZD9 (R183W)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 5 +1 more	GPathogenic/Likely pathogenic