ClinVar for MedGen (Select 98276) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 638372	NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser)	MAPT (R222S +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple system atrophy +4 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 +4 more	GConflicting classifications of pathogenicity
Select item 60539	NM_001358921.2(COQ2):c.1010G>A (p.Arg337Gln)	COQ2 (R387Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 60538	NM_001358921.2(COQ2):c.1009C>T (p.Arg337Ter)	COQ2 (R387*)	Single nucleotide variant (nonsense)	Multiple system atrophy	Grisk factor
Select item 60537	NM_001358921.2(COQ2):c.878T>C (p.Val293Ala)	COQ2 (V293A)	Single nucleotide variant (missense variant)	Multiple system atrophy	Grisk factor
Select item 60536	NM_001358921.2(COQ2):c.232A>G (p.Met78Val)	COQ2, LOC112997540 (M128V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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