"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "COQ2"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128830	NM_001358921.2(COQ2):c.840C>T (p.Ser280=)	COQ2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 214224	NM_001358921.2(COQ2):c.800C>T (p.Thr267Met)	COQ2 (T317M +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 128829	NM_001358921.2(COQ2):c.744T>C (p.Asp248=)	COQ2	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, primary, 1 +2 more	GBenign
Select item 3380984	NM_001358921.2(COQ2):c.543-4_543del	COQ2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2162055	NM_001358921.2(COQ2):c.445A>G (p.Ile149Val)	COQ2 (I149V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3379543	NM_001358921.2(COQ2):c.345_346delinsGT (p.Phe115_Gly116delinsLeuCys)	COQ2	Indel (missense variant)	not provided	GUncertain significance
Select item 439551	NM_001358921.2(COQ2):c.310G>A (p.Gly104Ser)	COQ2 (G154S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 559292	NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr)	COQ2, LOC112997540 (S107T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 631951	NM_001358921.2(COQ2):c.138dup (p.Ala47fs)	COQ2, LOC112997540 (A97fs +1 more)	Duplication (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 128828	NM_001358921.2(COQ2):c.46G>T (p.Val16Leu)	LOC112997540, COQ2 (V66L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 559293	NM_001358921.2(COQ2):c.18C>G (p.Ala6=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 136978	NM_015697.9(COQ2):c.64A>T (p.Arg22Ter)	COQ2, LOC112997540 (R22*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis +4 more	GBenign/Likely benign
Select item 260677	NM_015697.9(COQ2):c.30G>A (p.Arg10=)	COQ2, LOC112997540	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign