LOC105943586[gene] - ClinVar

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Items: 42

	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 58100	GRCh38/hg38 17p12(chr17:14126296-15659587)x3	CDRT15, CDRT3 +27 more	Copy number gain	See cases	GPathogenic
Select item 8430	NC_000017.11:g.(14170534_14194724)_(15567585_15591587)del	CDRT15, CDRT3 +25 more	Deletion	Autosomal recessive Dejerine-Sottas syndrome +2 more	GPathogenic
Select item 545215	NC_000017.11:g.(?_14178908)_(15518547_?)del	CDRT15, CDRT3 +23 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 154234	GRCh38/hg38 17p12(chr17:14179737-15664355)x3	CDRT15, CDRT3 +27 more	Copy number gain	See cases	GPathogenic
Select item 154140	GRCh38/hg38 17p12(chr17:14179737-15571773)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 545216	NC_000017.11:g.(?_14183541)_(15573247_?)del	CDRT15, CDRT3 +25 more	Deletion	Autism	GLikely pathogenic
Select item 155232	GRCh38/hg38 17p12(chr17:14184470-15586786)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 155236	GRCh38/hg38 17p12(chr17:14184616-15597331)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 153289	GRCh38/hg38 17p12(chr17:14184616-15588218)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 153241	GRCh38/hg38 17p12(chr17:14184616-15581544)x1	CDRT15, CDRT3 +25 more	Copy number loss	See cases	GPathogenic
Select item 153240	GRCh38/hg38 17p12(chr17:14184616-15581544)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 152376	GRCh38/hg38 17p12(chr17:14184616-15581044)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 152875	GRCh38/hg38 17p12(chr17:14186983-15570276)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 58103	GRCh38/hg38 17p12(chr17:14186983-15563870)x3	CDRT15, CDRT3 +23 more	Copy number gain	See cases	GPathogenic
Select item 58102	GRCh38/hg38 17p12(chr17:14186983-15578926)x3	CDRT15, CDRT3 +25 more	Copy number gain	See cases	GPathogenic
Select item 1198090	NM_001303.4(COX10):c.696-132C>A	COX10, LOC105943586	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236819	NM_001303.4(COX10):c.696-11del	COX10, LOC105943586	Deletion (intron variant)	not provided	GBenign
Select item 136995	NM_001303.4(COX10):c.699A>G (p.Pro233=)	COX10, LOC105943586	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 1013385	NM_001303.4(COX10):c.724TGT[1] (p.Cys243del)	COX10, LOC105943586 (C243del)	Microsatellite (inframe_deletion)	not provided +1 more	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 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 136996	NM_001303.4(COX10):c.738G>A (p.Pro246=)	COX10, LOC105943586	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 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 1800551	NM_001303.4(COX10):c.793T>G (p.Phe265Val)	COX10, LOC105943586 (F265V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 890835	NM_001303.4(COX10):c.870G>A (p.Val290=)	LOC105943586, COX10	Single nucleotide variant (synonymous variant)	Leigh syndrome +1 more	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 444400	NM_001303.4(COX10):c.906G>A (p.Ala302=)	COX10, LOC105943586	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 321816	NM_001303.4(COX10):c.909C>T (p.Ala303=)	LOC105943586, COX10	Single nucleotide variant (synonymous variant)	Mitochondrial complex IV deficiency, nuclear type 1 +2 more	GConflicting classifications of pathogenicity
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 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 136998	NM_001303.4(COX10):c.928+12G>A	COX10, LOC105943586	Single nucleotide variant (intron variant)	Mitochondrial complex IV deficiency, nuclear type 1 +3 more	GBenign
Select item 1241858	NM_001303.4(COX10):c.928+144T>C	COX10, LOC105943586	Single nucleotide variant (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

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Items: 42