UQCC2[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ANKRD66, C6orf201 +2580 more	Copy number gain	See cases	GPathogenic
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 specified +1 more	GBenign
Select item 381205	NM_032340.4(UQCC2):c.321G>A (p.Met107Ile)	UQCC2 (M107I)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2168428	NM_032340.4(UQCC2):c.291G>A (p.Leu97=)	UQCC2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2107019	NM_032340.4(UQCC2):c.284-19_284-18del	UQCC2	Deletion (intron variant)	not provided	GLikely benign
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 2980796	NM_032340.4(UQCC2):c.283+3A>C	UQCC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2961346	NM_032340.4(UQCC2):c.252G>A (p.Ser84=)	UQCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 516964	NM_032340.4(UQCC2):c.225C>A (p.Pro75=)	UQCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1948497	NM_032340.4(UQCC2):c.222C>T (p.Arg74=)	UQCC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969728	NM_032340.4(UQCC2):c.218C>T (p.Pro73Leu)	UQCC2 (P73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910100	NM_032340.4(UQCC2):c.214-3C>T	UQCC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 133295	NM_032340.4(UQCC2):c.214-3C>G	UQCC2	Single nucleotide variant (intron variant)	Mitochondrial complex III deficiency nuclear type 7	GPathogenic
Select item 799527	NM_032340.4(UQCC2):c.214-10C>T	UQCC2	Single nucleotide variant (intron variant)	not provided	GLikely 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 2466714	NM_032340.4(UQCC2):c.190C>A (p.His64Asn)	UQCC2 (H64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459368	NM_032340.4(UQCC2):c.182C>T (p.Ala61Val)	UQCC2 (A61V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1905608	NM_032340.4(UQCC2):c.138+18G>A	UQCC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1368816	NM_032340.4(UQCC2):c.138G>A (p.Gln46=)	UQCC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 3186854	NM_032340.4(UQCC2):c.119G>A (p.Arg40Gln)	UQCC2 (R40Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1956668	NM_032340.4(UQCC2):c.113C>T (p.Ala38Val)	UQCC2 (A38V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1220358	NM_032340.4(UQCC2):c.112G>A (p.Ala38Thr)	UQCC2 (A38T)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 7 +1 more	GUncertain significance
Select item 2902034	NM_032340.4(UQCC2):c.103G>A (p.Val35Ile)	UQCC2 (V35I)	Single nucleotide variant (missense variant)	not provided	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 2499488	NM_032340.4(UQCC2):c.101G>A (p.Arg34Gln)	UQCC2 (R34Q)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 7	GPathogenic
Select item 2982576	NM_032340.4(UQCC2):c.97C>A (p.Gln33Lys)	UQCC2 (Q33K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511602	NM_032340.4(UQCC2):c.75G>C (p.Arg25=)	UQCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2287031	NM_032340.4(UQCC2):c.74G>A (p.Arg25Gln)	UQCC2 (R25Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1510873	NM_032340.4(UQCC2):c.46T>C (p.Trp16Arg)	UQCC2 (W16R)	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 1032949	NM_032340.4(UQCC2):c.37T>C (p.Cys13Arg)	UQCC2 (C13R)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 7	GUncertain significance
Select item 635828	NM_032340.4(UQCC2):c.28C>T (p.Leu10Phe)	UQCC2 (L10F)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 635827	NM_032340.4(UQCC2):c.23G>C (p.Arg8Pro)	UQCC2 (R8P)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 585258	NM_032340.3(UQCC2):c.[23G>C;28C>T]	UQCC2 (R8P +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex III deficiency nuclear type 7	GPathogenic
Select item 1905848	NM_032340.4(UQCC2):c.13C>A (p.Arg5=)	UQCC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3053139	NM_032340.4(UQCC2):c.-2A>C	UQCC2	Single nucleotide variant (5 prime UTR variant)	UQCC2-related disorder	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
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 1527234	GRCh37/hg19 6p21.32-21.31(chr6:33069892-33751391)	B3GALT4, BAK1 +23 more	Copy number gain	not specified	GUncertain significance
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 68