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

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 1187612	NM_006294.5(UQCRB):c.154_164dup	UQCRB	Duplication (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 215347	NM_006294.5(UQCRB):c.324G>T (p.Trp108Cys)	UQCRB (W108C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 379798	NM_006294.5(UQCRB):c.279G>A (p.Pro93=)	UQCRB (R139H)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 1704766	NM_006294.5(UQCRB):c.278C>T (p.Pro93Leu)	UQCRB (P61L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 215348	NM_006294.5(UQCRB):c.274del (p.Glu92fs)	UQCRB (E60fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1189147	NM_006294.5(UQCRB):c.259-65C>T	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234097	NM_006294.5(UQCRB):c.259-165dup	UQCRB	Duplication (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1213618	NM_006294.5(UQCRB):c.259-240G>A	UQCRB	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 676767	NM_006294.5(UQCRB):c.259-274C>T	UQCRB (P123L)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 1246446	NM_006294.5(UQCRB):c.258+282C>T	UQCRB	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 811923	NM_006294.5(UQCRB):c.258+268G>A	UQCRB (V90I)	Single nucleotide variant (missense variant +2 more)	Mitochondrial complex III deficiency nuclear type 3 +1 more	GLikely benign
Select item 676764	NM_006294.5(UQCRB):c.258+213C>G	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219586	NM_006294.5(UQCRB):c.258+175C>T	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 514264	NM_006294.5(UQCRB):c.258+7C>T	UQCRB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1199991	NM_006294.5(UQCRB):c.249A>C (p.Lys83Asn)	UQCRB (K51N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 288054	NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln)	UQCRB (L67Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 137889	NM_006294.5(UQCRB):c.195G>A (p.Arg65=)	UQCRB	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1193387	NM_006294.5(UQCRB):c.92-29G>C	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294148	NM_006294.5(UQCRB):c.92-56dup	UQCRB	Duplication (intron variant)	not provided	GBenign
Select item 1204385	NM_006294.5(UQCRB):c.92-288A>C	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196916	NM_006294.5(UQCRB):c.91+224C>T	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254874	NM_006294.5(UQCRB):c.91+51dup	UQCRB	Duplication (intron variant)	not provided	GBenign
Select item 1202034	NM_006294.5(UQCRB):c.91+62G>T	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194509	NM_006294.5(UQCRB):c.91+30GTT[4]	UQCRB	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1186980	NM_006294.5(UQCRB):c.91+36G>A	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137888	NM_006294.5(UQCRB):c.91+16G>C	UQCRB	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 390908	NM_006294.5(UQCRB):c.91+11G>C	UQCRB	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 215346	NM_006294.5(UQCRB):c.56A>T (p.Lys19Ile)	UQCRB (K19I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 1215663	NM_006294.5(UQCRB):c.20-29G>A	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200319	NM_006294.5(UQCRB):c.20-45A>G	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678336	NM_006294.5(UQCRB):c.20-143T>C	UQCRB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267794	NM_006294.5(UQCRB):c.20-300G>A	UQCRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684319	NM_006294.5(UQCRB):c.19+271T>C	UQCRB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 384986	NM_006294.5(UQCRB):c.19+13G>C	LOC130000789, UQCRB-AS1 +1 more	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3370089	NM_006294.5(UQCRB):c.19+4A>G	LOC130000789, UQCRB +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 137890	NM_006294.5(UQCRB):c.-13C>T	LOC130000789, UQCRB +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 383051	NM_006294.4(UQCRB):c.-39T>C	UQCRB, UQCRB-AS1	Single nucleotide variant	not specified	GLikely benign
Select item 675850	NM_006294.4(UQCRB):c.-100G>T	UQCRB, UQCRB-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 1201217	NC_000008.11:g.96235727G>A	UQCRB, UQCRB-AS1	Single nucleotide variant	not provided	GLikely benign
Select item 1253307	NC_000008.11:g.96235770A>T	UQCRB, UQCRB-AS1	Single nucleotide variant	not provided	GBenign

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Items: 41