C2677589[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296007	NM_020247.5(COQ8A):c.-113A>G	COQ8A, LOC129932681	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +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 136305	NM_020247.5(COQ8A):c.-10+8T>C	COQ8A, LOC129932682	Single nucleotide variant (intron variant)	Autosomal recessive cerebellar ataxia +2 more	GBenign/Likely benign
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 136295	NM_020247.5(COQ8A):c.67G>A (p.Val23Met)	COQ8A (V23M)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +3 more	GConflicting classifications of pathogenicity
Select item 873642	NM_020247.5(COQ8A):c.116C>T (p.Ala39Val)	COQ8A (A39V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 128273	NM_020247.5(COQ8A):c.117G>A (p.Ala39=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive cerebellar ataxia +3 more	GBenign
Select item 214026	NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)	COQ8A (H80Y)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia +3 more	GBenign/Likely benign
Select item 136297	NM_020247.5(COQ8A):c.255T>G (p.His85Gln)	COQ8A (H85Q)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia +3 more	GBenign/Likely benign
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 136299	NM_020247.5(COQ8A):c.291C>T (p.Ser97=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive cerebellar ataxia +3 more	GConflicting classifications of pathogenicity
Select item 874635	NM_020247.5(COQ8A):c.297C>T (p.Pro99=)	COQ8A	Single nucleotide variant (synonymous variant)	COQ8A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 214027	NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr)	COQ8A (D100Y)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 804510	NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln)	COQ8A (P105Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 296009	NM_020247.5(COQ8A):c.358G>A (p.Val120Met)	COQ8A (V120M)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 377442	NM_020247.5(COQ8A):c.384C>T (p.Ala128=)	COQ8A	Single nucleotide variant (synonymous variant)	COQ8A-related condition +3 more	GBenign/Likely benign
Select item 296010	NM_020247.5(COQ8A):c.427G>A (p.Gly143Arg)	COQ8A (G143R)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +2 more	GUncertain significance
Select item 874636	NM_020247.5(COQ8A):c.467T>C (p.Met156Thr)	COQ8A (M156T)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
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 875574	NM_020247.5(COQ8A):c.525C>T (p.Ala175=)	COQ8A	Single nucleotide variant (synonymous variant)	COQ8A-related condition +3 more	GConflicting classifications of pathogenicity
Select item 214032	NM_020247.5(COQ8A):c.655+9G>A	COQ8A	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 296012	NM_020247.5(COQ8A):c.687G>A (p.Leu229=)	COQ8A	Single nucleotide variant (synonymous 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 296015	NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)	COQ8A (R271C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 876570	NM_020247.5(COQ8A):c.854A>C (p.Asp285Ala)	COQ8A (D285A)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GUncertain significance
Select item 381728	NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)	COQ8A (A304V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3645	NM_020247.5(COQ8A):c.993C>T (p.Phe331=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
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 731772	NM_020247.5(COQ8A):c.1089C>T (p.Gly363=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 296017	NM_020247.5(COQ8A):c.1163-10C>T	COQ8A	Single nucleotide variant (intron variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 136303	NM_020247.5(COQ8A):c.1185C>T (p.Ile395=)	COQ8A	Single nucleotide variant (synonymous variant)	COQ8A-related condition +3 more	GBenign/Likely benign
Select item 296018	NM_020247.5(COQ8A):c.1188C>T (p.Asp396=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 873711	NM_020247.5(COQ8A):c.1236C>T (p.Ala412=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GConflicting classifications of pathogenicity
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 743002	NM_020247.5(COQ8A):c.1257-9C>T	COQ8A	Single nucleotide variant (intron variant)	not provided +1 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 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 874682	NM_020247.5(COQ8A):c.1343T>C (p.Val448Ala)	COQ8A (V448A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 763998	NM_020247.5(COQ8A):c.1395C>T (p.Asn465=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +1 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 296022	NM_020247.5(COQ8A):c.1399-13G>A	COQ8A	Single nucleotide variant (intron variant)	not specified +3 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 874683	NM_020247.5(COQ8A):c.1450T>A (p.Phe484Ile)	COQ8A (F484I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 874684	NM_020247.5(COQ8A):c.1533G>A (p.Thr511=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GUncertain significance
Select item 377445	NM_020247.5(COQ8A):c.1572+7G>A	COQ8A	Single nucleotide variant (intron variant)	Autosomal recessive ataxia due to ubiquinone deficiency +2 more	GConflicting classifications of pathogenicity
Select item 296023	NM_020247.5(COQ8A):c.1644C>T (p.Thr548=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia due to ubiquinone deficiency +3 more	GConflicting classifications of pathogenicity
Select item 875627	NM_020247.5(COQ8A):c.1659+14C>T	COQ8A	Single nucleotide variant (intron variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GConflicting classifications of pathogenicity
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 225030	NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)	COQ8A (M555I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 296026	NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)	COQ8A (A571T)	Single nucleotide variant (missense variant)	Autosomal recessive cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
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 128275	NM_020247.5(COQ8A):c.1716T>C (p.Ser572=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive cerebellar ataxia +2 more	GBenign
Select item 719067	NM_020247.5(COQ8A):c.1752C>T (p.Thr584=)	COQ8A	Single nucleotide variant (synonymous variant)	COQ8A-related condition +2 more	GConflicting classifications of pathogenicity
Select item 716523	NM_020247.5(COQ8A):c.1776C>T (p.Pro592=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 296028	NM_020247.5(COQ8A):c.1800C>T (p.Val600=)	COQ8A	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia due to ubiquinone deficiency +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 214046	NM_020247.5(COQ8A):c.1844dup (p.Ser616fs)	COQ8A (S616fs)	Duplication (frameshift variant)	ADCK3-Related Disorders +2 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 876627	NM_020247.5(COQ8A):c.1936C>A (p.Gln646Lys)	COQ8A (Q646K)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GConflicting classifications of pathogenicity
Select item 873773	NM_020247.5(COQ8A):c.*110G>C	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GUncertain significance
Select item 296031	NM_020247.5(COQ8A):c.*133G>A	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +2 more	GBenign/Likely benign
Select item 296032	NM_020247.5(COQ8A):c.*150C>T	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +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 296034	NM_020247.5(COQ8A):c.*230G>A	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GBenign/Likely benign
Select item 873774	NM_020247.5(COQ8A):c.*234G>A	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GUncertain significance
Select item 296035	NM_020247.5(COQ8A):c.*252A>C	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 296036	NM_020247.5(COQ8A):c.*326C>G	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 874730	NM_020247.5(COQ8A):c.*401A>G	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GUncertain significance
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 296040	NM_020247.5(COQ8A):c.*464G>A	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GBenign
Select item 874731	NM_020247.5(COQ8A):c.*497C>T	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GUncertain significance
Select item 296041	NM_020247.5(COQ8A):c.*570T>C	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 296046	NM_020247.5(COQ8A):c.*693G>T	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
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 875672	NM_020247.5(COQ8A):c.*759T>C	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GUncertain significance
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 296049	NM_020247.5(COQ8A):c.*790A>G	COQ8A	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive cerebellar ataxia +2 more	GBenign/Likely benign
Select item 296050	NM_020247.4(COQ8A):c.807_808insT	COQ8A	Duplication	not provided +3 more	GBenign

ClinVar

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Items: 85