"GeneDx"[submitter] AND "UQCC2"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1250225	NM_032340.4(UQCC2):c.*112C>T	UQCC2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 387464	NM_032340.4(UQCC2):c.*16C>T	UQCC2	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 387257	NM_032340.4(UQCC2):c.372T>C (p.His124=)	UQCC2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 380196	NM_032340.4(UQCC2):c.353A>G (p.Lys118Arg)	UQCC2 (K118R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 381205	NM_032340.4(UQCC2):c.321G>A (p.Met107Ile)	UQCC2 (M107I)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 7 +1 more	GLikely benign
Select item 2168428	NM_032340.4(UQCC2):c.291G>A (p.Leu97=)	UQCC2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1194865	NM_032340.4(UQCC2):c.284-98G>A	UQCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210844	NM_032340.4(UQCC2):c.284-109_284-108del	UQCC2	Deletion (intron variant)	not provided	GLikely benign
Select item 1180972	NM_032340.4(UQCC2):c.284-127A>G	UQCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193007	NM_032340.4(UQCC2):c.284-182C>T	UQCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669588	NM_032340.4(UQCC2):c.283+256C>A	UQCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684316	NM_032340.4(UQCC2):c.283+183C>T	UQCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3368046	NM_032340.4(UQCC2):c.261G>C (p.Glu87Asp)	UQCC2 (E87D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 516964	NM_032340.4(UQCC2):c.225C>A (p.Pro75=)	UQCC2	Single nucleotide variant (synonymous variant)	Mitochondrial complex III deficiency nuclear type 7 +1 more	GBenign/Likely benign
Select item 1178300	NM_032340.4(UQCC2):c.214-48G>T	UQCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292275	NM_032340.4(UQCC2):c.214-80T>C	UQCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180010	NM_032340.4(UQCC2):c.214-224G>A	UQCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211119	NM_032340.4(UQCC2):c.139-151A>G	UQCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673279	NM_032340.4(UQCC2):c.139-243G>A	UQCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669587	NM_032340.4(UQCC2):c.138+265T>C	UQCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192784	NM_032340.4(UQCC2):c.138+260A>G	UQCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196761	NM_032340.4(UQCC2):c.138+138C>A	UQCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676443	NM_032340.4(UQCC2):c.138+87G>T	UQCC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 507445	NM_032340.4(UQCC2):c.138+6C>T	UQCC2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 382977	NM_032340.4(UQCC2):c.123G>A (p.Glu41=)	UQCC2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1220358	NM_032340.4(UQCC2):c.112G>A (p.Ala38Thr)	UQCC2 (A38T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2502801	NM_032340.4(UQCC2):c.102G>A (p.Arg34=)	UQCC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 511602	NM_032340.4(UQCC2):c.75G>C (p.Arg25=)	UQCC2	Single nucleotide variant (synonymous variant)	Mitochondrial complex III deficiency nuclear type 7 +1 more	GLikely benign
Select item 2579899	NM_032340.4(UQCC2):c.61A>C (p.Thr21Pro)	UQCC2 (T21P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 713894	NM_032340.4(UQCC2):c.45A>C (p.Glu15Asp)	UQCC2 (E15D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 390553	NM_032340.3(UQCC2):c.-16A>G	UQCC2	Single nucleotide variant	not specified	GLikely benign
Select item 1292274	NC_000006.12:g.33711819A>C	UQCC2	Single nucleotide variant	not provided	GBenign
Select item 1182833	NC_000006.12:g.33711830C>G	UQCC2	Single nucleotide variant	not provided	GLikely benign
Select item 1691142	NC_000006.12:g.33711841C>A	UQCC2	Single nucleotide variant	not provided	GLikely benign
Select item 1206479	NC_000006.12:g.33712022A>G	UQCC2	Single nucleotide variant	not provided	GLikely benign
Select item 671160	NM_032340.3(UQCC2):c.-344T>C	UQCC2	Single nucleotide variant	not provided	GBenign

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Items: 36