CN239204[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296006	NM_020247.4(COQ8A):c.-137C>A	COQ8A, LOC129932681	Single nucleotide variant	Autosomal recessive cerebellar ataxia +1 more	GUncertain significance
Select item 296008	NM_020247.5(COQ8A):c.-75C>T	COQ8A	Single nucleotide variant (5 prime UTR variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +1 more	GUncertain significance
Select item 136294	NM_020247.5(COQ8A):c.63G>A (p.Ala21=)	COQ8A	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +3 more	GConflicting classifications of pathogenicity
Select item 136298	NM_020247.5(COQ8A):c.258A>C (p.Ala86=)	COQ8A	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +3 more	GConflicting classifications of pathogenicity
Select item 296011	NM_020247.5(COQ8A):c.521C>A (p.Thr174Lys)	COQ8A (T174K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214033	NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr)	COQ8A (A233T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 296013	NM_020247.5(COQ8A):c.719A>C (p.Glu240Ala)	COQ8A (E240A)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +2 more	GUncertain significance
Select item 296014	NM_020247.5(COQ8A):c.798G>A (p.Thr266=)	COQ8A	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +2 more	GConflicting classifications of pathogenicity
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 296016	NM_020247.5(COQ8A):c.1060G>A (p.Glu354Lys)	COQ8A (E354K)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +2 more	GUncertain significance
Select item 296019	NM_020247.5(COQ8A):c.1256+11C>G	COQ8A	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 296020	NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn)	COQ8A (D420N)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +2 more	GConflicting classifications of pathogenicity
Select item 296021	NM_020247.5(COQ8A):c.1398+12C>A	COQ8A	Single nucleotide variant (intron variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +2 more	GConflicting classifications of pathogenicity
Select item 128274	NM_020247.5(COQ8A):c.1440C>T (p.Phe480=)	COQ8A	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +2 more	GBenign
Select item 296025	NM_020247.5(COQ8A):c.1679T>C (p.Leu560Ser)	COQ8A (L560S)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +1 more	GUncertain significance
Select item 296027	NM_020247.5(COQ8A):c.1713C>A (p.Ala571=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 296029	NM_020247.5(COQ8A):c.1809C>T (p.Pro603=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 214036	NM_020247.5(COQ8A):c.1914C>T (p.Ser638=)	COQ8A	Single nucleotide variant (synonymous variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +3 more	GBenign/Likely benign
Select item 296030	NM_020247.5(COQ8A):c.*22C>T	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive cerebellar ataxia +1 more	GUncertain significance
Select item 296033	NM_020247.5(COQ8A):c.*184G>C	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 296037	NM_020247.5(COQ8A):c.*349G>A	COQ8A	Single nucleotide variant (3 prime UTR variant)	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +2 more	GConflicting classifications of pathogenicity
Select item 296038	NM_020247.5(COQ8A):c.*389dup	COQ8A	Duplication (3 prime UTR variant)	Autosomal recessive cerebellar ataxia +1 more	GBenign
Select item 296039	NM_020247.5(COQ8A):c.*425G>T	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 296042	NM_020247.5(COQ8A):c.*612C>T	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 296043	NM_020247.5(COQ8A):c.*613G>A	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 296044	NM_020247.5(COQ8A):c.*631C>G	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 296045	NM_020247.5(COQ8A):c.*681G>A	COQ8A	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 296047	NM_020247.5(COQ8A):c.*727C>T	COQ8A	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 296048	NM_020247.5(COQ8A):c.*761G>A	COQ8A	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 296050	NM_020247.4(COQ8A):c.807_808insT	COQ8A	Duplication	not provided +3 more	GBenign
Select item 368867	NM_020247.4(COQ8A):c.*815C>T	COQ8A	Single nucleotide variant	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +2 more	GBenign

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Items: 31