"Fulgent Genetics, Fulgent Genetics"[submitter] AND "LOC112997540"[gen - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60536	NM_001358921.2(COQ2):c.232A>G (p.Met78Val)	LOC112997540, COQ2 (M128V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 214228	NM_001358921.2(COQ2):c.227G>A (p.Arg76His)	COQ2, LOC112997540 (R126H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1484996	NM_001358921.2(COQ2):c.182C>T (p.Ala61Val)	COQ2, LOC112997540 (A111V +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 1698040	NM_001358921.2(COQ2):c.165G>C (p.Gln55His)	COQ2, LOC112997540 (Q105H +1 more)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GUncertain significance
Select item 631951	NM_001358921.2(COQ2):c.138dup (p.Ala47fs)	COQ2, LOC112997540 (A97fs +1 more)	Duplication (frameshift variant)	Coenzyme Q10 deficiency, primary, 1 +3 more	GConflicting classifications of pathogenicity
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 1510650	NM_001358921.2(COQ2):c.89C>T (p.Ala30Val)	COQ2, LOC112997540 (A80V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1698355	NM_001358921.2(COQ2):c.71G>A (p.Trp24Ter)	COQ2, LOC112997540 (W24* +1 more)	Single nucleotide variant (nonsense)	Coenzyme Q10 deficiency, primary, 1 +2 more	GLikely pathogenic
Select item 1511523	NM_001358921.2(COQ2):c.11C>G (p.Ser4Trp)	COQ2, LOC112997540 (S4W +1 more)	Single nucleotide variant (missense variant)	Multiple system atrophy 1, susceptibility to +2 more	GUncertain significance
Select item 1438750	NM_001358921.2(COQ2):c.-2C>G	COQ2, LOC112997540 (A50G)	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple system atrophy 1, susceptibility to +3 more	GUncertain significance
Select item 1381926	NM_015697.9(COQ2):c.94G>A (p.Ala32Thr)	COQ2, LOC112997540 (A32T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1358438	NM_015697.9(COQ2):c.83C>A (p.Ala28Glu)	COQ2, LOC112997540 (A28E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 1357524	NM_015697.9(COQ2):c.57G>T (p.Gln19His)	COQ2, LOC112997540 (Q19H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1695503	NM_015697.9(COQ2):c.34G>C (p.Gly12Arg)	COQ2, LOC112997540 (G12R)	Single nucleotide variant (missense variant)	not provided +2 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