ClinVar for Gene (Select 84701) - ClinVar

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Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076466	NM_032609.3(COX4I2):c.470G>T (p.Gly157Val)	COX4I2 (G157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076465	NM_032609.3(COX4I2):c.289C>T (p.Arg97Cys)	COX4I2 (R97C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076464	NM_032609.3(COX4I2):c.289C>G (p.Arg97Gly)	COX4I2 (R97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 3051848	NM_032609.3(COX4I2):c.345C>T (p.Phe115=)	COX4I2	Single nucleotide variant (synonymous variant)	COX4I2-related condition	GLikely benign
Select item 3042463	NM_032609.3(COX4I2):c.174C>T (p.Asn58=)	COX4I2	Single nucleotide variant (synonymous variant)	COX4I2-related condition	GLikely benign
Select item 2967541	NM_032609.3(COX4I2):c.379+11A>G	COX4I2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957797	NM_032609.3(COX4I2):c.82+15C>T	COX4I2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908703	NM_032609.3(COX4I2):c.86G>A (p.Arg29His)	COX4I2 (R29H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896497	NM_032609.3(COX4I2):c.481C>T (p.Arg161Cys)	COX4I2 (R161C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880670	NM_032609.3(COX4I2):c.367C>G (p.Gln123Glu)	COX4I2 (Q123E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843912	NM_032609.3(COX4I2):c.155C>A (p.Pro52His)	COX4I2 (P52H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2743865	NM_032609.3(COX4I2):c.336C>T (p.Phe112=)	COX4I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2743864	NM_032609.3(COX4I2):c.328T>G (p.Phe110Val)	COX4I2 (F110V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739274	NM_032609.3(COX4I2):c.464T>C (p.Val155Ala)	COX4I2 (V155A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2705420	NM_032609.3(COX4I2):c.396G>A (p.Pro132=)	COX4I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2510354	NM_032609.3(COX4I2):c.91G>A (p.Gly31Arg)	COX4I2 (G31R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2410600	NM_032609.3(COX4I2):c.118T>C (p.Cys40Arg)	COX4I2 (C40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366959	NM_032609.3(COX4I2):c.416G>A (p.Arg139Gln)	COX4I2 (R139Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357845	NM_032609.3(COX4I2):c.91G>C (p.Gly31Arg)	COX4I2 (G31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325018	NM_032609.3(COX4I2):c.242T>A (p.Val81Glu)	COX4I2 (V81E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266368	NM_032609.3(COX4I2):c.75A>C (p.Glu25Asp)	COX4I2 (E25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213735	NM_032609.3(COX4I2):c.278C>T (p.Ala93Val)	COX4I2 (A93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2190355	NM_032609.3(COX4I2):c.467A>G (p.Gln156Arg)	COX4I2 (Q156R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188130	NM_032609.3(COX4I2):c.482G>T (p.Arg161Leu)	COX4I2 (R161L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164603	NM_032609.3(COX4I2):c.279G>A (p.Ala93=)	COX4I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2154681	NM_032609.3(COX4I2):c.28G>A (p.Val10Met)	COX4I2 (V10M)	Single nucleotide variant (missense variant)	Pancreatic insufficiency-anemia-hyperostosis syndrome +1 more	GUncertain significance
Select item 2080702	NM_032609.3(COX4I2):c.275T>C (p.Phe92Ser)	COX4I2 (F92S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2073077	NM_032609.3(COX4I2):c.333C>G (p.Phe111Leu)	COX4I2 (F111L)	Single nucleotide variant (missense variant)	Pancreatic insufficiency-anemia-hyperostosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2067153	NM_032609.3(COX4I2):c.338T>C (p.Ile113Thr)	COX4I2 (I113T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2063053	NM_032609.3(COX4I2):c.231C>T (p.His77=)	COX4I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028039	NM_032609.3(COX4I2):c.378C>T (p.Tyr126=)	COX4I2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1987824	NM_032609.3(COX4I2):c.411C>T (p.Asp137=)	COX4I2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906309	NM_032609.3(COX4I2):c.154C>T (p.Pro52Ser)	COX4I2 (P52S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1557052	NM_032609.3(COX4I2):c.82+10_82+17dup	COX4I2	Duplication (intron variant)	not provided	GLikely benign
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1399512	NM_032609.3(COX4I2):c.346G>A (p.Ala116Thr)	COX4I2 (A116T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347696	NM_032609.3(COX4I2):c.488A>C (p.Asp163Ala)	COX4I2 (D163A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1340492	GRCh37/hg19 20q11.21(chr20:29652122-30518304)x3	BCL2L1, COX4I2 +15 more	Copy number gain	not provided	GLikely benign
Select item 1340141	GRCh37/hg19 20q11.21(chr20:29652122-30272637)x3	BCL2L1, COX4I2 +10 more	Copy number gain	not provided	GLikely benign
Select item 1292100	NC_000020.11:g.31637737G>T	COX4I2	Single nucleotide variant	not provided	GBenign
Select item 1275666	NM_032609.3(COX4I2):c.380-282T>C	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271777	NM_032609.3(COX4I2):c.379+299T>C	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271229	NM_032609.3(COX4I2):c.380-67G>A	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267585	NM_032609.3(COX4I2):c.1-131G>A	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258594	NM_032609.3(COX4I2):c.1-278C>G	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251432	NM_032609.3(COX4I2):c.380-119C>T	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250923	NC_000020.11:g.31645101T>G	COX4I2	Single nucleotide variant	not provided	GBenign
Select item 1244826	NM_032609.3(COX4I2):c.1-57G>C	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229499	NM_032609.3(COX4I2):c.83-97A>G	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225894	NM_032609.3(COX4I2):c.-1+27C>T	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183218	NM_032609.3(COX4I2):c.247+257G>A	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1032977	NM_032609.3(COX4I2):c.175G>C (p.Ala59Pro)	COX4I2 (A59P)	Single nucleotide variant (missense variant)	Pancreatic insufficiency-anemia-hyperostosis syndrome +1 more	GConflicting classifications of pathogenicity
Select item 979729	GRCh37/hg19 20q11.21(chr20:29833534-30494851)x3	DEFB115, DEFB123 +15 more	Copy number gain	not provided	GLikely benign
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 811601	NM_032609.3(COX4I2):c.408G>A (p.Thr136=)	COX4I2	Single nucleotide variant (synonymous variant)	Pancreatic insufficiency-anemia-hyperostosis syndrome +1 more	GLikely benign
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 688778	GRCh37/hg19 20q11.21(chr20:29835457-30232565)x3	COX4I2, DEFB115 +9 more	Copy number gain	not provided	GUncertain significance
Select item 681930	NM_032609.3(COX4I2):c.-40G>A	COX4I2, LOC130065606	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 668668	NM_032609.3(COX4I2):c.83-10G>T	COX4I2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 618043	NM_032609.3(COX4I2):c.88G>C (p.Gly30Arg)	COX4I2 (G30R)	Single nucleotide variant (missense variant)	Pancreatic insufficiency-anemia-hyperostosis syndrome +1 more	GBenign/Likely benign
Select item 560101	Single allele	CST11, CST2 +89 more	Duplication	not provided	GPathogenic
Select item 506588	NM_032609.3(COX4I2):c.114C>T (p.Thr38=)	COX4I2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 446352	GRCh37/hg19 20q11.21(chr20:29425357-30226690)x3	COX4I2, DEFB115 +10 more	Copy number gain	See cases	GUncertain significance
Select item 443671	GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	ABHD12, ACSS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442379	GRCh37/hg19 20q11.21(chr20:29833535-30599771)x3	BCL2L1, CCM2L +18 more	Copy number gain	See cases	GUncertain significance
Select item 395214	GRCh37/hg19 20q11.21(chr20:29877878-30231917)x3	COX4I2, DEFB116 +8 more	Copy number gain	See cases	GLikely benign
Select item 391212	NM_032609.3(COX4I2):c.234C>T (p.Ala78=)	COX4I2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 338039	NM_032609.3(COX4I2):c.482G>A (p.Arg161His)	COX4I2 (R161H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 338032	NM_032609.3(COX4I2):c.83-8_83-7del	COX4I2	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 338031	NM_032609.3(COX4I2):c.1-6C>T	COX4I2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CD93, PDRG1 +89 more	Copy number gain	See cases	GPathogenic
Select item 197362	NM_032609.3(COX4I2):c.253C>T (p.Arg85Trp)	COX4I2 (R85W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 152494	GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3	COX4I2, DEFB115 +27 more	Copy number gain	See cases	GUncertain significance
Select item 149125	GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4	ABALON, BCL2L1 +62 more	Copy number gain	See cases	GLikely pathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 2655	NM_032609.3(COX4I2):c.412G>A (p.Glu138Lys)	COX4I2 (E138K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 86