COX10[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 1273311	NC_000017.11:g.14069166C>T	COX10, COX10-DT	Single nucleotide variant	not provided	GBenign
Select item 1216738	NC_000017.11:g.14069201G>T	COX10, COX10-DT	Single nucleotide variant	not provided	GLikely benign
Select item 673119	NM_001303.3(COX10):c.-401C>T	COX10, COX10-DT	Single nucleotide variant	not provided	GBenign
Select item 321802	NM_001303.3(COX10):c.-170C>G	COX10, COX10-DT	Single nucleotide variant (non-coding transcript variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321803	NM_001303.3(COX10):c.-112G>A	COX10	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign
Select item 321804	NM_001303.3(COX10):c.-109G>A	COX10	Single nucleotide variant	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GBenign/Likely benign
Select item 321805	NM_001303.4(COX10):c.-90G>T	COX10	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 891985	NM_001303.4(COX10):c.-89G>C	COX10	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +3 more	GUncertain significance
Select item 889563	NM_001303.4(COX10):c.-89G>T	COX10	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +2 more	GUncertain significance
Select item 321806	NM_001303.4(COX10):c.-63C>T	COX10	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +2 more	GBenign/Likely benign
Select item 321807	NM_001303.4(COX10):c.-40G>A	COX10	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 391036	NM_001303.4(COX10):c.-35A>G	COX10	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 321808	NM_001303.4(COX10):c.-29C>A	COX10	Single nucleotide variant (5 prime UTR variant)	Leigh syndrome +1 more	GUncertain significance
Select item 321809	NM_001303.4(COX10):c.-24G>A	COX10	Single nucleotide variant (5 prime UTR variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
Select item 7527	NM_001303.4(COX10):c.2T>C (p.Met1Thr)	COX10, LOC130060303 (M1T)	Single nucleotide variant (missense variant +1 more)	Mitochondrial complex 4 deficiency, nuclear type 3	GPathogenic
Select item 384201	NM_001303.4(COX10):c.15G>T (p.Pro5=)	COX10, LOC130060303	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2081819	NM_001303.4(COX10):c.18C>T (p.His6=)	COX10, LOC130060303	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3076428	NM_001303.4(COX10):c.20C>G (p.Thr7Ser)	COX10, LOC130060303 (T7S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 137005	NM_001303.4(COX10):c.33C>T (p.Arg11=)	COX10, LOC130060303	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 1693693	NM_001303.4(COX10):c.34C>T (p.Leu12Phe)	COX10, LOC130060303 (L12F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1622696	NM_001303.4(COX10):c.43+10C>G	COX10, LOC130060303	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1528991	NM_001303.4(COX10):c.43+12G>A	COX10, LOC130060303	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 669477	NM_001303.4(COX10):c.43+166T>C	COX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202237	NM_001303.4(COX10):c.43+184G>T	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272959	NM_001303.4(COX10):c.44-287G>A	COX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683588	NM_001303.4(COX10):c.44-178G>A	COX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198282	NM_001303.4(COX10):c.44-62G>A	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 890219	NM_001303.4(COX10):c.44-3T>C	COX10	Single nucleotide variant (intron variant)	Leigh syndrome +1 more	GUncertain significance
Select item 2007152	NM_001303.4(COX10):c.44-2A>G	COX10	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 377745	NM_001303.4(COX10):c.48C>T (p.Cys16=)	COX10	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2183450	NM_001303.4(COX10):c.49G>A (p.Val17Ile)	COX10 (V17I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 321810	NM_001303.4(COX10):c.64T>A (p.Trp22Arg)	COX10 (W22R)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 2192294	NM_001303.4(COX10):c.74A>G (p.Glu25Gly)	COX10 (E25G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137004	NM_001303.4(COX10):c.83C>T (p.Thr28Ile)	COX10 (T28I)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GBenign/Likely benign
Select item 3076431	NM_001303.4(COX10):c.85A>G (p.Ile29Val)	COX10 (I29V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2519191	NM_001303.4(COX10):c.86T>C (p.Ile29Thr)	COX10 (I29T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 377746	NM_001303.4(COX10):c.93C>A (p.Asp31Glu)	COX10 (D31E)	Single nucleotide variant (missense variant)	COX10-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1956680	NM_001303.4(COX10):c.94T>G (p.Ser32Ala)	COX10 (S32A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 321811	NM_001303.4(COX10):c.123G>A (p.Arg41=)	COX10	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +1 more	GUncertain significance
Select item 1999499	NM_001303.4(COX10):c.170A>G (p.Lys57Arg)	COX10 (K57R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440518	NM_001303.4(COX10):c.172C>T (p.Arg58Cys)	COX10 (R58C)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GUncertain significance
Select item 321812	NM_001303.4(COX10):c.173G>A (p.Arg58His)	COX10 (R58H)	Single nucleotide variant (missense variant)	Leigh syndrome +4 more	GUncertain significance
Select item 1291575	NM_001303.4(COX10):c.177+43_177+44insATTT	COX10	Insertion (intron variant)	not provided	GBenign
Select item 674116	NM_001303.4(COX10):c.177+167C>T	COX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672514	NM_001303.4(COX10):c.178-284dup	COX10	Duplication (intron variant)	not provided	GBenign
Select item 1259083	NM_001303.4(COX10):c.178-252A>G	COX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 137006	NM_001303.4(COX10):c.184A>T (p.Thr62Ser)	COX10 (T62S)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GBenign
Select item 321813	NM_001303.4(COX10):c.192G>A (p.Leu64=)	COX10	Single nucleotide variant (synonymous variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2070995	NM_001303.4(COX10):c.212A>T (p.Gln71Leu)	COX10 (Q71L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2069002	NM_001303.4(COX10):c.249C>G (p.Phe83Leu)	COX10 (F83L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 725217	NM_001303.4(COX10):c.260C>T (p.Thr87Ile)	COX10 (T87I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 742407	NM_001303.4(COX10):c.282A>G (p.Ala94=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 137007	NM_001303.4(COX10):c.290A>G (p.Tyr97Cys)	COX10 (Y97C)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GBenign/Likely benign
Select item 2038449	NM_001303.4(COX10):c.296T>G (p.Met99Arg)	COX10 (M99R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137008	NM_001303.4(COX10):c.302C>T (p.Pro101Leu)	COX10 (P101L)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1335255	NM_001303.4(COX10):c.306C>T (p.Leu102=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 498097	NM_001303.4(COX10):c.307T>G (p.Ser103Ala)	COX10 (S103A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449007	NM_001303.4(COX10):c.311C>T (p.Pro104Leu)	COX10 (P104L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2082467	NM_001303.4(COX10):c.312G>A (p.Pro104=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3269036	NM_001303.4(COX10):c.334A>G (p.Lys112Glu)	COX10 (K112E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1162811	NM_001303.4(COX10):c.338C>G (p.Pro113Arg)	COX10 (P113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066892	NM_001303.4(COX10):c.352T>C (p.Leu118=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3076429	NM_001303.4(COX10):c.368C>T (p.Pro123Leu)	COX10 (P123L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 618042	NM_001303.4(COX10):c.380T>C (p.Ile127Thr)	COX10 (I127T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2048273	NM_001303.4(COX10):c.384A>G (p.Glu128=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030367	NM_001303.4(COX10):c.394G>T (p.Asp132Tyr)	COX10 (D132Y)	Single nucleotide variant (missense variant)	Leigh syndrome +3 more	GUncertain significance
Select item 1677043	NM_001303.4(COX10):c.413_414del (p.Lys138fs)	COX10 (K138fs)	Deletion (frameshift variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GLikely pathogenic
Select item 379670	NM_001303.4(COX10):c.425G>A (p.Arg142Gln)	COX10 (R142Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3076430	NM_001303.4(COX10):c.435G>C (p.Glu145Asp)	COX10 (E145D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 430559	NM_001303.4(COX10):c.445C>T (p.Gln149Ter)	COX10 (Q149*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2313640	NM_001303.4(COX10):c.454G>T (p.Asp152Tyr)	COX10 (D152Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2098996	NM_001303.4(COX10):c.456T>G (p.Asp152Glu)	COX10 (D152E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137009	NM_001303.4(COX10):c.476G>A (p.Arg159Gln)	COX10 (R159Q)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GBenign
Select item 1612494	NM_001303.4(COX10):c.480A>T (p.Leu160=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805251	NM_001303.4(COX10):c.499+20T>C	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288821	NM_001303.4(COX10):c.499+277T>G	COX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236228	NM_001303.4(COX10):c.500-168A>G	COX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193132	NM_001303.4(COX10):c.500-130C>T	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259968	NM_001303.4(COX10):c.500-62C>T	COX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246347	NM_001303.4(COX10):c.500-49T>C	COX10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217029	NM_001303.4(COX10):c.500-40C>T	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976924	NM_001303.4(COX10):c.500-19C>T	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2018958	NM_001303.4(COX10):c.500-16dup	COX10	Duplication (intron variant)	not provided	GLikely benign
Select item 668211	NM_001303.4(COX10):c.500-4G>A	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1979269	NM_001303.4(COX10):c.503_504inv (p.Leu168Pro)	COX10 (L168P)	Inversion (missense variant)	not provided	GUncertain significance
Select item 137003	NM_001303.4(COX10):c.504G>A (p.Leu168=)	COX10	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GBenign
Select item 2994321	NM_001303.4(COX10):c.516C>T (p.Thr172=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1370660	NM_001303.4(COX10):c.520G>A (p.Ala174Thr)	COX10 (A174T)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +1 more	GUncertain significance
Select item 2683409	NM_001303.4(COX10):c.523G>T (p.Ala175Ser)	COX10 (A175S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176831	NM_001303.4(COX10):c.524C>T (p.Ala175Val)	COX10 (A175V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1899210	NM_001303.4(COX10):c.524C>G (p.Ala175Gly)	COX10 (A175G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642171	NM_001303.4(COX10):c.528A>G (p.Gly176=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933255	NM_001303.4(COX10):c.534A>G (p.Ala178=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1227342	NM_001303.4(COX10):c.535T>C (p.Leu179=)	COX10	Single nucleotide variant (synonymous variant)	Mitochondrial complex 4 deficiency, nuclear type 3 +1 more	GBenign/Likely benign
Select item 2618508	NM_001303.4(COX10):c.542C>T (p.Pro181Leu)	COX10 (P181L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 321814	NM_001303.4(COX10):c.543G>A (p.Pro181=)	COX10	Single nucleotide variant (synonymous variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1974339	NM_001303.4(COX10):c.561C>G (p.Pro187=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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