ClinVar for Gene (Select 285521) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269045	NM_001297732.2(COX18):c.136G>A (p.Val46Ile)	COX18 (V46I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3269044	NM_001297732.2(COX18):c.937T>A (p.Ser313Thr)	COX18 (S313T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269043	NM_001297732.2(COX18):c.785G>T (p.Arg262Leu)	COX18 (R110L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269042	NM_001297732.2(COX18):c.566G>A (p.Arg189Gln)	COX18 (R189Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076457	NM_001297732.2(COX18):c.920G>A (p.Arg307Gln)	COX18 (R306Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076455	NM_001297732.2(COX18):c.754C>T (p.Arg252Cys)	COX18 (R252C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076454	NM_001297732.2(COX18):c.545T>C (p.Ile182Thr)	COX18 (I182T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076453	NM_001297732.2(COX18):c.391G>T (p.Ala131Ser)	COX18 (A131S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076452	NM_001297732.2(COX18):c.265T>G (p.Ser89Ala)	COX18 (S89A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3076451	NM_001297732.2(COX18):c.263T>C (p.Leu88Pro)	COX18 (L88P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2685114	GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1	ADAMTS3, AFM +58 more	Copy number loss	not provided	GPathogenic
Select item 2618509	NM_001297732.2(COX18):c.411G>T (p.Leu137Phe)	COX18 (L137F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2597393	NM_001297732.2(COX18):c.498C>G (p.His166Gln)	COX18 (H166Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589279	NM_001297732.2(COX18):c.112C>T (p.Leu38Phe)	COX18 (L38F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554429	NM_001297732.2(COX18):c.11G>A (p.Arg4Gln)	COX18 (G41S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506394	NM_001297732.2(COX18):c.667G>C (p.Asp223His)	COX18 (D222H +3 more)	Single nucleotide variant (missense variant)	Mitochondrial complex IV deficiency, nuclear type 1	GUncertain significance
Select item 2457452	NM_001297732.2(COX18):c.917G>A (p.Cys306Tyr)	COX18 (C306Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391117	NM_001297732.2(COX18):c.77C>T (p.Ala26Val)	COX18 (A26V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321831	NM_001297732.2(COX18):c.316C>G (p.His106Asp)	COX18 (H106D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313535	NM_001297732.2(COX18):c.583G>T (p.Ala195Ser)	COX18 (A44S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255568	NM_001297732.2(COX18):c.461G>A (p.Arg154Lys)	COX18 (R157K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207693	NM_001297732.2(COX18):c.188C>T (p.Pro63Leu)	COX18 (R100W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807860	GRCh37/hg19 4q13.3(chr4:73813059-74048878)x3	ANKRD17, COX18	Copy number gain	not provided	GUncertain significance
Select item 1684642	NC_000004.12:g.67833055_82716065del	LINC01088, LINC01094 +330 more	Deletion	See cases	GPathogenic
Select item 1527095	GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154)	CXCL5, CXCL6 +51 more	Copy number loss	not specified	GPathogenic
Select item 1527090	GRCh37/hg19 4q13.1-13.3(chr4:61867555-74711517)	ADAMTS3, ADGRL3 +58 more	Copy number loss	not specified	GPathogenic
Select item 1341976	GRCh37/hg19 4q13.3(chr4:73694233-73984429)x3	ANKRD17, COX18	Copy number gain	not provided	GUncertain significance
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	ENAM, LOC123477761 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 984402	NM_001297732.2(COX18):c.908G>A (p.Arg303His)	COX18 (R151H +3 more)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 983172	GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	ABRAXAS1, ADAMTS3 +97 more	Copy number loss	See cases	GPathogenic
Select item 814566	GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	CXCL3, LIN54 +82 more	Copy number loss	not provided	GPathogenic
Select item 814563	GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1	ADAMTS3, AFM +92 more	Copy number loss	not provided	GPathogenic
Select item 685751	GRCh37/hg19 4q13.3(chr4:73831863-73970545)x1	ANKRD17, COX18	Copy number loss	not provided	GUncertain significance
Select item 685523	GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1	ADAMTS3, AFM +51 more	Copy number loss	not provided	GPathogenic
Select item 685236	GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3	CCNG2, CCNI +109 more	Copy number gain	not provided	GPathogenic
Select item 512415	NM_001297732.2(COX18):c.174G>A (p.Leu58=)	COX18 (W95*)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 443262	GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1	ADAMTS3, AFM +75 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394975	GRCh37/hg19 4q13.3(chr4:73628282-74044783)x3	ANKRD17, COX18	Copy number gain	See cases	GUncertain significance
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 151728	GRCh38/hg38 4q13.3(chr4:72953320-73179066)x3	ANKRD17, COX18 +2 more	Copy number gain	See cases	GUncertain significance
Select item 150729	GRCh38/hg38 4q13.3(chr4:72888410-73179113)x3	ANKRD17, COX18 +2 more	Copy number gain	See cases	GLikely benign
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 148549	GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1	ADAMTS3, AFM +121 more	Copy number loss	See cases	GLikely pathogenic
Select item 146971	GRCh38/hg38 4q13.3(chr4:72953350-73179096)x3	ANKRD17, COX18 +2 more	Copy number gain	See cases	GBenign
Select item 58031	GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3	ADAMTS3, AFM +166 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 51