"Fulgent Genetics, Fulgent Genetics"[submitter] AND "COQ8A"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 214026	NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)	COQ8A (H80Y)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +3 more	GBenign/Likely benign
Select item 3645	NM_020247.5(COQ8A):c.993C>T (p.Phe331=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia due to ubiquinone deficiency +4 more	GBenign
Select item 242458	NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)	COQ8A (R348*)	Single nucleotide variant (nonsense)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GPathogenic
Select item 1338924	NM_020247.5(COQ8A):c.1047G>A (p.Met349Ile)	COQ8A (M349I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 136302	NM_020247.5(COQ8A):c.1053C>T (p.Gly351=)	COQ8A	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +3 more	GBenign/Likely benign
Select item 214044	NM_020247.5(COQ8A):c.1286A>G (p.Tyr429Cys)	COQ8A (Y429C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 757020	NM_020247.5(COQ8A):c.1554C>T (p.Phe518=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia due to ubiquinone deficiency +2 more	GBenign/Likely benign
Select item 446793	NM_020247.5(COQ8A):c.1797C>T (p.Leu599=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 377446	NM_020247.5(COQ8A):c.1824C>T (p.Ser608=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign