Related gene-specific medical variations for Gene (Select 1352) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2081819	NM_001303.4(COX10):c.18C>T (p.His6=)	COX10, LOC130060303	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1800551	NM_001303.4(COX10):c.793T>G (p.Phe265Val)	COX10, LOC105943586 (F265V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1241858	NM_001303.4(COX10):c.928+144T>C	COX10, LOC105943586	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236819	NM_001303.4(COX10):c.696-11del	COX10, LOC105943586	Deletion (intron variant)	not provided	GBenign
Select item 1202561	NM_001303.4(COX10):c.928+170G>A	COX10, LOC105943586	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198090	NM_001303.4(COX10):c.696-132C>A	COX10, LOC105943586	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1013385	NM_001303.4(COX10):c.724TGT[1] (p.Cys243del)	COX10, LOC105943586 (C243del)	Microsatellite (inframe_deletion)	Mitochondrial complex 4 deficiency, nuclear type 3 +1 more	GUncertain significance
Select item 890835	NM_001303.4(COX10):c.870G>A (p.Val290=)	COX10, LOC105943586	Single nucleotide variant (synonymous variant)	Leigh syndrome +1 more	GUncertain significance
Select item 890834	NM_001303.4(COX10):c.736C>T (p.Pro246Ser)	COX10, LOC105943586 (P246S)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GUncertain significance
Select item 815905	GRCh37/hg19 17p12(chr17:13933395-14055324)x1	COX10	Copy number loss	not provided	GUncertain significance
Select item 808237	NM_001303.4(COX10):c.763G>A (p.Val255Met)	COX10, LOC105943586 (V255M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 688021	GRCh37/hg19 17p12(chr17:13879079-14013128)x1	COX10	Copy number loss	not provided	GPathogenic
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 564400	GRCh37/hg19 17p12(chr17:14041216-14108096)x1	COX10	Copy number loss	not provided	GUncertain significance
Select item 444400	NM_001303.4(COX10):c.906G>A (p.Ala302=)	LOC105943586, COX10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 321816	NM_001303.4(COX10):c.909C>T (p.Ala303=)	COX10, LOC105943586	Single nucleotide variant (synonymous variant)	Leigh syndrome +2 more	GConflicting classifications of pathogenicity
Select item 287432	NM_001303.4(COX10):c.781G>T (p.Ala261Ser)	COX10, LOC105943586 (A261S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 253914	GRCh37/hg19 17p12(chr17:14110043-14111913)x3	COX10	Copy number gain	See cases	GUncertain significance
Select item 253545	GRCh37/hg19 17p12(chr17:14110043-14111913)x1	COX10	Copy number loss	See cases	GPathogenic
Select item 137005	NM_001303.4(COX10):c.33C>T (p.Arg11=)	COX10, LOC130060303	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 136998	NM_001303.4(COX10):c.928+12G>A	COX10, LOC105943586	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 136997	NM_001303.4(COX10):c.773T>A (p.Leu258His)	LOC105943586, COX10 (L258H)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 136996	NM_001303.4(COX10):c.738G>A (p.Pro246=)	COX10, LOC105943586	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 136995	NM_001303.4(COX10):c.699A>G (p.Pro233=)	COX10, LOC105943586	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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

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Items: 38