UQCRFS1[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 153639	GRCh38/hg38 19q12-13.11(chr19:29051888-31967596)x1	C19orf12, CCNE1 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 2649667	NM_006003.3(UQCRFS1):c.786G>A (p.Thr262=)	UQCRFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2401093	NM_006003.3(UQCRFS1):c.785C>T (p.Thr262Met)	UQCRFS1 (T262M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186886	NM_006003.3(UQCRFS1):c.631G>C (p.Val211Leu)	UQCRFS1 (V211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 619499	NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter)	UQCRFS1 (R204*)	Single nucleotide variant (nonsense)	Propionic acidemia +2 more	GPathogenic
Select item 1176071	NM_006003.3(UQCRFS1):c.519C>G (p.Pro173=)	UQCRFS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789459	NM_006003.3(UQCRFS1):c.471C>T (p.Ser157=)	UQCRFS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3186885	NM_006003.3(UQCRFS1):c.409G>A (p.Val137Ile)	UQCRFS1 (V137I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2272703	NM_006003.3(UQCRFS1):c.376G>C (p.Ala126Pro)	UQCRFS1 (A126P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3331175	NM_006003.3(UQCRFS1):c.314A>G (p.Glu105Gly)	UQCRFS1 (E105G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186883	NM_006003.3(UQCRFS1):c.233A>T (p.Tyr78Phe)	UQCRFS1 (Y78F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 619297	NM_006003.3(UQCRFS1):c.215-1G>C	UQCRFS1	Single nucleotide variant (splice acceptor variant)	Propionic acidemia +2 more	GPathogenic
Select item 2380543	NM_006003.3(UQCRFS1):c.151A>T (p.Ser51Cys)	LOC130064117, UQCRFS1 (S51C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457838	NM_006003.3(UQCRFS1):c.125T>A (p.Val42Glu)	LOC130064117, UQCRFS1 (V42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 619501	NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp)	UQCRFS1 (V14D)	Single nucleotide variant (missense variant)	Propionic acidemia +2 more	GPathogenic
Select item 2479116	NM_006003.3(UQCRFS1):c.37C>G (p.Pro13Ala)	UQCRFS1 (P13A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1684191	NM_006003.3(UQCRFS1):c.24A>G (p.Ser8=)	LOC130064118, UQCRFS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1684192	NM_006003.3(UQCRFS1):c.16T>G (p.Ser6Ala)	LOC130064118, UQCRFS1 (S6A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2278050	NM_006003.3(UQCRFS1):c.5T>C (p.Leu2Ser)	LOC130064118, UQCRFS1 (L2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2682253	NC_000019.9:g.(?_29696226)_(29704059_?)del	UQCRFS1	Deletion	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816075	GRCh37/hg19 19q12(chr19:29118589-29791099)x3	UQCRFS1	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564604	GRCh37/hg19 19q12(chr19:29083484-31804809)x3	VSTM2B, ZNF536 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564593	GRCh37/hg19 19q12(chr19:29341513-29818674)x1	UQCRFS1	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442775	GRCh37/hg19 19q11-12(chr19:28271107-31110233)x1	C19orf12, CCNE1 +6 more	Copy number loss	See cases	GLikely pathogenic

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Items: 32