"Genome-Nilou Lab"[submitter] AND "COQ8A"[gene] - ClinVar - NCBI

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Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128273	NM_020247.5(COQ8A):c.117G>A (p.Ala39=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 683200	NM_020247.5(COQ8A):c.730+260T>C	COQ8A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 671530	NM_020247.5(COQ8A):c.854-81A>G	COQ8A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 671531	NM_020247.5(COQ8A):c.940-52C>G	COQ8A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1183738	NM_020247.5(COQ8A):c.1256+32del	COQ8A	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1188901	NM_020247.5(COQ8A):c.1257-56G>T	COQ8A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 128274	NM_020247.5(COQ8A):c.1440C>T (p.Phe480=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia due to ubiquinone deficiency +2 more	GBenign
Select item 676090	NM_020247.5(COQ8A):c.1573-52G>A	COQ8A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 518313	NM_020247.5(COQ8A):c.1573-20C>G	COQ8A	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 296024	NM_020247.5(COQ8A):c.1660-9T>C	COQ8A	Single nucleotide variant (intron variant)	Autosomal recessive ataxia due to ubiquinone deficiency +2 more	GBenign
Select item 128275	NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive cerebellar ataxia +2 more	GBenign