ClinVar for Gene (Select 1352) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3250786	NM_001303.4(COX10):c.921C>T (p.Leu307=)	COX10, LOC105943586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3243145	NC_000017.10:g.(?_14005415)_(14005579_?)del	COX10	Deletion	not provided	GUncertain significance
Select item 3148867	GRCh37/hg19 17p12(chr17:14070220-15482833)x1	CDRT15, CDRT4 +6 more	Copy number loss	See cases	GPathogenic
Select item 3148860	GRCh37/hg19 17p12(chr17:14073536-15503234)x1	CDRT15, CDRT4 +7 more	Copy number loss	See cases	GPathogenic
Select item 3076433	NM_001303.4(COX10):c.937C>T (p.Leu313Phe)	COX10 (L313F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076432	NM_001303.4(COX10):c.866C>T (p.Ala289Val)	COX10, LOC105943586 (A289V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3076430	NM_001303.4(COX10):c.435G>C (p.Glu145Asp)	COX10 (E145D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3076427	NM_001303.4(COX10):c.1300G>A (p.Gly434Arg)	COX10 (G434R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3076426	NM_001303.4(COX10):c.1277T>C (p.Met426Thr)	COX10 (M426T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 3026902	NM_001303.4(COX10):c.675G>A (p.Pro225=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004760	NM_001303.4(COX10):c.1260G>T (p.Pro420=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994321	NM_001303.4(COX10):c.516C>T (p.Thr172=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981625	NM_001303.4(COX10):c.1281C>T (p.Leu427=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967787	NM_001303.4(COX10):c.625-17T>C	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891572	NM_001303.4(COX10):c.1108_1109delinsAT (p.Ala370Ile)	COX10 (A370I)	Indel (missense variant)	not provided	GUncertain significance
Select item 2876119	NM_001303.4(COX10):c.1281C>A (p.Leu427=)	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 2792861	NM_001303.4(COX10):c.929-9_929-8insTCC	COX10	Insertion (intron variant)	not provided	GLikely benign
Select item 2772490	NM_001303.4(COX10):c.1263G>A (p.Leu421=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717925	NM_001303.4(COX10):c.1293G>A (p.Arg431=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2672715	GRCh37/hg19 17p12(chr17:14095306-15472344)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 2671610	Single allele	CDRT15, CDRT4 +6 more	Deletion	not provided	GPathogenic
Select item 2647496	NM_001303.4(COX10):c.858G>C (p.Trp286Cys)	COX10, LOC105943586 (W286C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2624113	NM_001303.4(COX10):c.1310A>T (p.Asp437Val)	COX10 (D437V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2591064	NM_001303.4(COX10):c.922G>A (p.Asp308Asn)	COX10, LOC105943586 (D308N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2582510	NM_001303.4(COX10):c.1262T>C (p.Leu421Pro)	COX10 (L421P)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GUncertain significance
Select item 2582413	NM_001303.4(COX10):c.620del (p.Asn207fs)	COX10 (N207fs)	Deletion (frameshift variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GLikely pathogenic
Select item 2580345	GRCh37/hg19 17p12(chr17:14095256-15492591)x3	CDRT15, CDRT4 +7 more	Copy number gain	Charcot-Marie-Tooth disease type 1E	GPathogenic
Select item 2580333	GRCh37/hg19 17p12(chr17:14095256-15477547)x1	CDRT15, CDRT4 +6 more	Copy number loss	Hereditary liability to pressure palsies	GPathogenic
Select item 2552078	NM_001303.4(COX10):c.1162A>C (p.Ile388Leu)	COX10 (I388L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2519922	NM_001303.4(COX10):c.727T>A (p.Cys243Ser)	COX10, LOC105943586 (C243S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2509214	NM_001303.4(COX10):c.599C>A (p.Ser200Tyr)	COX10 (S200Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498729	GRCh37/hg19 17p12(chr17:14095306-15472344)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 2498728	GRCh37/hg19 17p12(chr17:14095306-15466762)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 2478916	NM_001303.4(COX10):c.713C>T (p.Ser238Phe)	COX10, LOC105943586 (S238F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2417360	NM_001303.4(COX10):c.1316G>A (p.Gly439Glu)	COX10 (G439E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413136	NM_001303.4(COX10):c.878C>T (p.Ala293Val)	COX10, LOC105943586 (A293V)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GUncertain significance
Select item 2413135	NM_001303.4(COX10):c.1037C>T (p.Ser346Leu)	COX10 (S346L)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 3	GUncertain significance
Select item 2351988	NM_001303.4(COX10):c.908C>A (p.Ala303Asp)	COX10, LOC105943586 (A303D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2306554	NM_001303.4(COX10):c.1090C>G (p.Leu364Val)	COX10 (L364V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231510	NM_001303.4(COX10):c.1060C>T (p.Arg354Trp)	COX10 (R354W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192684	NM_001303.4(COX10):c.1286G>A (p.Cys429Tyr)	COX10 (C429Y)	Single nucleotide variant (missense variant)	not provided	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 2192234	NM_001303.4(COX10):c.1020C>T (p.Gly340=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191195	NM_001303.4(COX10):c.1312G>A (p.Ala438Thr)	COX10 (A438T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2191194	NM_001303.4(COX10):c.1206C>T (p.Asp402=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 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 2137929	NM_001303.4(COX10):c.1015C>T (p.Arg339Trp)	COX10 (R339W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2137927	NM_001303.4(COX10):c.683G>A (p.Arg228His)	COX10 (R228H)	Single nucleotide variant (missense variant)	not provided	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 2097949	NM_001303.4(COX10):c.695+19G>C	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2092271	NM_001303.4(COX10):c.929-6G>A	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2082467	NM_001303.4(COX10):c.312G>A (p.Pro104=)	COX10	Single nucleotide variant (synonymous variant)	not provided	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 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)	Inborn genetic diseases +1 more	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 2048273	NM_001303.4(COX10):c.384A>G (p.Glu128=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2019594	NM_001303.4(COX10):c.929-7_929-5dup	COX10	Duplication (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 2014466	NM_001303.4(COX10):c.674C>G (p.Pro225Arg)	COX10 (P225R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009799	NM_001303.4(COX10):c.563G>A (p.Cys188Tyr)	COX10 (C188Y)	Single nucleotide variant (missense variant)	not provided	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 2005450	NM_001303.4(COX10):c.1260GCT[7] (p.Leu425_Met426insLeuLeu)	COX10	Microsatellite (inframe_insertion)	not provided	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 1987128	NM_001303.4(COX10):c.1120C>T (p.Leu374=)	COX10	Single nucleotide variant (synonymous 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 1976924	NM_001303.4(COX10):c.500-19C>T	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1975227	NM_001303.4(COX10):c.625-10C>A	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974339	NM_001303.4(COX10):c.561C>G (p.Pro187=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973811	NM_001303.4(COX10):c.965A>C (p.Gln322Pro)	COX10 (Q322P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1939383	NM_001303.4(COX10):c.929-8_929-7dup	COX10	Duplication (intron 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 1930357	NM_001303.4(COX10):c.1047C>T (p.His349=)	COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1915327	NM_001303.4(COX10):c.611A>G (p.Asn204Ser)	COX10 (N204S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1914916	NM_001303.4(COX10):c.625-9T>C	COX10	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1879390	GRCh37/hg19 17p12(chr17:14110127-15472344)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808978	GRCh37/hg19 17p12(chr17:14078283-15479940)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808684	GRCh37/hg19 17p12(chr17:14087934-15491532)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808667	GRCh37/hg19 17p12(chr17:14083055-15484859)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808665	GRCh37/hg19 17p12(chr17:14087934-15484358)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808614	GRCh37/hg19 17p12(chr17:14073563-15479923)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808605	GRCh37/hg19 17p12(chr17:14087934-15483608)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic
Select item 1808529	GRCh37/hg19 17p12(chr17:14077819-15491532)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807927	GRCh37/hg19 17p12(chr17:14087788-15484858)x1	CDRT15, CDRT4 +6 more	Copy number loss	not provided	GPathogenic
Select item 1807821	GRCh37/hg19 17p12(chr17:14083055-15483608)x3	CDRT15, CDRT4 +6 more	Copy number gain	not provided	GPathogenic

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