"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC112997 - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1900531	NM_001358921.2(COQ2):c.219G>T (p.Pro73=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 218722	NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala)	COQ2, LOC112997540 (D115A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 136980	NM_001358921.2(COQ2):c.189G>T (p.Val63=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 559292	NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)	COQ2, LOC112997540 (S107T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 214223	NM_001358921.2(COQ2):c.137C>T (p.Pro46Leu)	COQ2, LOC112997540 (P96L +1 more)	Single nucleotide variant (missense variant)	COQ2-related disorder +1 more	GBenign/Likely benign
Select item 1285203	NM_001358921.2(COQ2):c.136C>T (p.Pro46Ser)	COQ2, LOC112997540 (P46S +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3032732	NM_001358921.2(COQ2):c.99T>A (p.Arg33=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	COQ2-related disorder	GLikely benign
Select item 128828	NM_001358921.2(COQ2):c.46G>T (p.Val16Leu)	COQ2, LOC112997540 (V66L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1937718	NM_001358921.2(COQ2):c.27C>T (p.Phe9=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2633919	NM_001358921.2(COQ2):c.2T>C (p.Met1Thr)	COQ2, LOC112997540 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	COQ2-related disorder	GUncertain significance
Select item 817635	NM_001358921.2(COQ2):c.-30del	COQ2, LOC112997540 (I41fs)	Deletion (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 136978	NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)	COQ2, LOC112997540 (R22*)	Single nucleotide variant (nonsense)	Coenzyme Q10 deficiency, primary, 1 +4 more	GBenign/Likely benign
Select item 136977	NM_015697.9(COQ2):c.64A>C (p.Arg22=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1366236	NM_015697.9(COQ2):c.61G>A (p.Gly21Ser)	COQ2, LOC112997540 (G21S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 260677	NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=)	LOC112997540, COQ2	Single nucleotide variant (synonymous variant)	Multiple system atrophy 1, susceptibility to +3 more	GBenign/Likely benign