"Baylor Genetics"[submitter] AND "COQ2"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031929	NM_001358921.2(COQ2):c.925G>T (p.Ala309Ser)	COQ2 (A309S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1031928	NM_001358921.2(COQ2):c.889A>T (p.Ser297Cys)	COQ2 (S297C +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 1031932	NM_001358921.2(COQ2):c.663G>A (p.Trp221Ter)	COQ2 (W271* +1 more)	Single nucleotide variant (nonsense)	Multiple system atrophy	GPathogenic
Select item 2582412	NM_001358921.2(COQ2):c.508del (p.Ala170fs)	COQ2 (A170fs +1 more)	Deletion (frameshift variant)	Multiple system atrophy 1, susceptibility to	GLikely pathogenic
Select item 1031931	NM_001358921.2(COQ2):c.491G>A (p.Gly164Glu)	COQ2 (G164E +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 1438	NM_001358921.2(COQ2):c.440G>A (p.Arg147His)	COQ2 (R197H +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GPathogenic/Likely pathogenic
Select item 1027998	NM_015697.9(COQ2):c.97C>T (p.His33Tyr)	COQ2, LOC112997540 (H33Y)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1	GUncertain significance
Select item 2671934	NM_015697.9(COQ2):c.-4C>T	COQ2, LOC112997540	Single nucleotide variant (5 prime UTR variant)	Multiple system atrophy 1, susceptibility to	GUncertain significance
Select item 625784	GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	ABRAXAS1, AFF1 +28 more	Copy number loss	not provided	GPathogenic