56997[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 1809607	GRCh38/hg38 1q32.2-42.13(chr1:228006998-228061271)x2	LOC126806029, LOC129932471 +720 more	Copy number loss	Orofacial cleft 2	Gassociation
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 147449	GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1	ACBD3, ACBD3-AS1 +287 more	Copy number loss	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 155156	GRCh38/hg38 1q42.12-42.13(chr1:225382172-230418801)x1	ABCB10, ACBD3 +309 more	Copy number loss	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 146517	GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1	ABCB10, ACBD3 +313 more	Copy number loss	See cases	GPathogenic
Select item 1298455	NC_000001.11:g.226898403T>C	PSEN2, COQ8A	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 1176225	NC_000001.11:g.226898653G>A	COQ8A, PSEN2	Single nucleotide variant (genic downstream transcript variant)	not provided	GLikely benign
Select item 296006	NM_020247.4(COQ8A):c.-137C>A	COQ8A, LOC129932681	Single nucleotide variant	Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type +1 more	GUncertain significance
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 1985006	NM_020247.5(COQ8A):c.10A>G (p.Ile4Val)	COQ8A (I4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214037	NM_020247.5(COQ8A):c.11T>A (p.Ile4Lys)	COQ8A (I4K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585375	NM_020247.5(COQ8A):c.13T>C (p.Leu5=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1552119	NM_020247.5(COQ8A):c.25A>G (p.Ile9Val)	COQ8A (I9V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2690576	NM_020247.5(COQ8A):c.32del (p.Val11fs)	COQ8A (V11fs)	Deletion (frameshift variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GLikely pathogenic
Select item 446801	NM_020247.5(COQ8A):c.50A>G (p.Lys17Arg)	COQ8A (K17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1602907	NM_020247.5(COQ8A):c.54G>T (p.Leu18=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902283	NM_020247.5(COQ8A):c.56C>T (p.Thr19Ile)	COQ8A (T19I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 755045	NM_020247.5(COQ8A):c.57C>G (p.Thr19=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738347	NM_020247.5(COQ8A):c.57C>T (p.Thr19=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011836	NM_020247.5(COQ8A):c.62C>A (p.Ala21Glu)	COQ8A (A21E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214025	NM_020247.5(COQ8A):c.62C>T (p.Ala21Val)	COQ8A (A21V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 136294	NM_020247.5(COQ8A):c.63G>A (p.Ala21=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +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)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1968617	NM_020247.5(COQ8A):c.68T>C (p.Val23Ala)	COQ8A (V23A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2099402	NM_020247.5(COQ8A):c.69G>A (p.Val23=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 136296	NM_020247.5(COQ8A):c.78C>T (p.His26=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2136062	NM_020247.5(COQ8A):c.87C>G (p.His29Gln)	COQ8A (H29Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948340	NM_020247.5(COQ8A):c.96C>T (p.Ile32=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214038	NM_020247.5(COQ8A):c.97G>A (p.Gly33Arg)	COQ8A (G33R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1619977	NM_020247.5(COQ8A):c.99A>C (p.Gly33=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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)	not specified +3 more	GBenign
Select item 1027505	NM_020247.5(COQ8A):c.127del (p.Leu43fs)	COQ8A (L43fs)	Deletion (frameshift variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GPathogenic
Select item 1186913	NM_020247.5(COQ8A):c.127_128delinsA (p.Leu43fs)	COQ8A (L43fs)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1401003	NM_020247.5(COQ8A):c.137C>T (p.Thr46Met)	COQ8A (T46M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184390	NM_020247.5(COQ8A):c.145G>A (p.Glu49Lys)	COQ8A (E49K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446788	NM_020247.5(COQ8A):c.148del (p.Gln50fs)	COQ8A (Q50fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1256284	NM_020247.5(COQ8A):c.150G>T (p.Gln50His)	COQ8A (Q50H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974271	NM_020247.5(COQ8A):c.156C>T (p.Gly52=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2117315	NM_020247.5(COQ8A):c.169A>G (p.Lys57Glu)	COQ8A (K57E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 807529	NM_020247.5(COQ8A):c.175C>T (p.Gln59Ter)	COQ8A (Q59*)	Single nucleotide variant (nonsense)	Autosomal recessive ataxia due to ubiquinone deficiency	GPathogenic
Select item 1968258	NM_020247.5(COQ8A):c.177+6G>T	COQ8A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2868028	NM_020247.5(COQ8A):c.177+12T>C	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 375332	NC_000001.10:g.227150977_227195656del44680	CDC42BPA, COQ8A +3 more	Deletion	Autosomal recessive ataxia due to ubiquinone deficiency	GPathogenic
Select item 669686	NM_020247.5(COQ8A):c.178-309C>T	COQ8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186570	NM_020247.5(COQ8A):c.178-99G>A	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665337	NM_020247.5(COQ8A):c.178-17G>A	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1650619	NM_020247.5(COQ8A):c.178-17G>T	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1654544	NM_020247.5(COQ8A):c.178-8C>T	COQ8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2290889	NM_020247.5(COQ8A):c.178-3C>T	COQ8A	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1909823	NM_020247.5(COQ8A):c.178-2A>G	COQ8A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1475635	NM_020247.5(COQ8A):c.178G>A (p.Gly60Ser)	COQ8A (G60S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738253	NM_020247.5(COQ8A):c.192T>C (p.His64=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3254972	NM_020247.5(COQ8A):c.210del (p.Asn71fs)	COQ8A (N71fs)	Deletion (frameshift variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GPathogenic
Select item 1359760	NM_020247.5(COQ8A):c.211A>T (p.Asn71Tyr)	COQ8A (N71Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954192	NM_020247.5(COQ8A):c.219C>T (p.Gly73=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 547864	NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser)	COQ8A (G74S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 760740	NM_020247.5(COQ8A):c.225A>C (p.Pro75=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955576	NM_020247.5(COQ8A):c.227A>G (p.Glu76Gly)	COQ8A (E76G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932710	NM_020247.5(COQ8A):c.234G>C (p.Glu78Asp)	COQ8A (E78D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 446798	NM_020247.5(COQ8A):c.240C>T (p.His80=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 987278	NM_020247.5(COQ8A):c.248dup (p.His85fs)	COQ8A (H85fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1928062	NM_020247.5(COQ8A):c.250_253del (p.Pro84fs)	COQ8A (P84fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2176952	NM_020247.5(COQ8A):c.251C>T (p.Pro84Leu)	COQ8A (P84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936042	NM_020247.5(COQ8A):c.252G>A (p.Pro84=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 136297	NM_020247.5(COQ8A):c.255T>G (p.His85Gln)	COQ8A (H85Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 136298	NM_020247.5(COQ8A):c.258A>C (p.Ala86=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1602992	NM_020247.5(COQ8A):c.259G>A (p.Ala87Thr)	COQ8A (A87T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1034816	NM_020247.5(COQ8A):c.260C>T (p.Ala87Val)	COQ8A (A87V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177565	NM_020247.5(COQ8A):c.262G>A (p.Gly88Arg)	COQ8A (G88R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030698	NM_020247.5(COQ8A):c.263G>T (p.Gly88Val)	COQ8A (G88V)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency	GUncertain significance
Select item 930030	NM_020247.5(COQ8A):c.280_284del (p.Ser95fs)	COQ8A (S95fs)	Deletion (frameshift variant)	Coenzyme Q10 deficiency, primary, 1	GLikely pathogenic
Select item 1626284	NM_020247.5(COQ8A):c.279C>T (p.Phe93=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113253	NM_020247.5(COQ8A):c.281C>T (p.Ser94Phe)	COQ8A (S94F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136299	NM_020247.5(COQ8A):c.291C>T (p.Ser97=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2200957	NM_020247.5(COQ8A):c.292G>A (p.Ala98Thr)	COQ8A (A98T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 874635	NM_020247.5(COQ8A):c.297C>T (p.Pro99=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1954090	NM_020247.5(COQ8A):c.298G>A (p.Asp100Asn)	COQ8A (D100N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214027	NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr)	COQ8A (D100Y)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1704970	NM_020247.5(COQ8A):c.308C>T (p.Ala103Val)	COQ8A (A103V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 738132	NM_020247.5(COQ8A):c.309G>A (p.Ala103=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089943	NM_020247.5(COQ8A):c.312C>A (p.Pro104=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 804510	NM_020247.5(COQ8A):c.314C>A (p.Pro105Gln)	COQ8A (P105Q)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia due to ubiquinone deficiency +1 more	GUncertain significance
Select item 1945836	NM_020247.5(COQ8A):c.319C>G (p.Leu107Val)	COQ8A (L107V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2916997	NM_020247.5(COQ8A):c.322G>C (p.Gly108Arg)	COQ8A (G108R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1977252	NM_020247.5(COQ8A):c.330C>T (p.Ala110=)	COQ8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 585378	NM_020247.5(COQ8A):c.335G>A (p.Ser112Asn)	COQ8A (S112N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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