ClinVar for Gene (Select 1312) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330401	NM_006440.5(TXNRD2):c.19G>A (p.Ala7Thr)	COMT, TXNRD2 (A7T)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3246993	NC_000022.10:g.(?_19747167)_(20052185_?)dup	ARVCF, COMT +5 more	Duplication	Primary dilated cardiomyopathy	GUncertain significance
Select item 3242338	GRCh37/hg19 22q11.21(chr22:19016502-21464637)x1	AIFM3, ARVCF +43 more	Copy number loss	not provided	GPathogenic
Select item 3242337	GRCh37/hg19 22q11.1-11.21(chr22:16849364-20311389)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3242284	GRCh37/hg19 22q11.21(chr22:18888685-21465668)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 3239101	NM_000754.4(COMT):c.402G>A (p.Ala134=)	COMT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3225595	NM_006440.5(TXNRD2):c.5C>T (p.Ala2Val)	COMT, TXNRD2 (A2V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3225591	NM_006440.5(TXNRD2):c.29G>T (p.Gly10Val)	TXNRD2, COMT (G10V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 3148947	GRCh37/hg19 22q11.21(chr22:18648856-21800471)x1	AIFM3, ARVCF +49 more	Copy number loss	See cases	GPathogenic
Select item 3148946	GRCh37/hg19 22q11.21(chr22:18649190-21800471)x3	AIFM3, ARVCF +49 more	Copy number gain	not provided	GPathogenic
Select item 3148922	GRCh37/hg19 22q11.21(chr22:18919478-21461017)x3	AIFM3, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148919	GRCh37/hg19 22q11.21(chr22:18649190-21022258)x3	ARVCF, C22orf39 +37 more	Copy number gain	See cases	GPathogenic
Select item 3148863	GRCh37/hg19 22q11.1-11.21(chr22:16888900-20312661)x3	ADA2, ARVCF +44 more	Copy number gain	not provided	GPathogenic
Select item 3148859	GRCh37/hg19 22q11.21(chr22:18919478-21927646)x3	AIFM3, ARVCF +50 more	Copy number gain	not provided	GPathogenic
Select item 3147939	NM_000754.4(COMT):c.685T>C (p.Phe229Leu)	ARVCF, COMT (F229L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054100	NM_000754.4(COMT):c.801C>T (p.Ser267=)	ARVCF, COMT	Single nucleotide variant (synonymous variant)	COMT-related disorder	GLikely benign
Select item 3049619	NM_006440.5(TXNRD2):c.24G>C (p.Leu8=)	COMT, TXNRD2	Single nucleotide variant (synonymous variant +2 more)	TXNRD2-related disorder	GLikely benign
Select item 3046825	NM_000754.4(COMT):c.1-5T>C	COMT	Single nucleotide variant (5 prime UTR variant +1 more)	COMT-related disorder	GLikely benign
Select item 3046309	NM_000754.4(COMT):c.207C>T (p.Pro69=)	COMT	Single nucleotide variant (synonymous variant)	COMT-related disorder	GLikely benign
Select item 3045453	NM_000754.4(COMT):c.756G>A (p.Glu252=)	ARVCF, COMT	Single nucleotide variant (synonymous variant)	COMT-related disorder	GLikely benign
Select item 2713883	NM_006440.5(TXNRD2):c.8C>T (p.Ala3Val)	COMT, TXNRD2 (A3V)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 2685672	GRCh37/hg19 22q11.1-11.21(chr22:17832142-20945625)x1	RTL10, RTN4R +45 more	Copy number loss	not provided	GPathogenic
Select item 2684929	GRCh37/hg19 22q11.21(chr22:19533622-19938011)x3	COMT, GNB1L +5 more	Copy number gain	not provided	GPathogenic
Select item 2684927	GRCh37/hg19 22q11.21(chr22:18916843-20716903)x3	ARVCF, C22orf39 +30 more	Copy number gain	not provided	GPathogenic
Select item 2672921	GRCh37/hg19 22q11.21(chr22:18893888-21563415)x1	CLTCL1, COMT +46 more	Copy number loss	not provided	GPathogenic
Select item 2663892	GRCh38/hg38 22q11.21(chr22:18856290-21070117)x3	AIFM3, ARVCF +174 more	Copy number gain	Microcephaly-digital anomalies-intellectual disability syndrome	GPathogenic
Select item 2652873	NM_000754.4(COMT):c.*578G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2652872	NM_000754.4(COMT):c.609C>T (p.Leu203=)	COMT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2580321	GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1	ARVCF, C22orf39 +27 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2580309	GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3	AIFM3, ARVCF +45 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal +1 more	GPathogenic
Select item 2580291	GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3	ARVCF, C22orf39 +30 more	Copy number gain	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 2579266	GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1	AIFM3, ARVCF +169 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 2574689	GRCh37/hg19 22q11.21(chr22:18916842-20311810)	COMT, ARVCF +26 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2574134	NC_000022.11:g.18948676_21110520del	LOC130066999, LOC130067004 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 2572172	NC_000022.11:g.18948676_21110520dup	LOC130066967, TSSK2 +170 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 2571168	GRCh37/hg19 22q11.21(chr22:18893888-21481925)x1	AIFM3, ARVCF +45 more	Copy number loss	not provided	GPathogenic
Select item 2564287	NM_006440.5(TXNRD2):c.25C>A (p.Arg9=)	COMT, TXNRD2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2561861	NM_006440.5(TXNRD2):c.22C>T (p.Leu8=)	COMT, TXNRD2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype	GLikely benign
Select item 2500149	NM_000754.4(COMT):c.575_576insT (p.Trp193fs)	COMT (W143fs +1 more)	Insertion (frameshift variant)	Bardet-Biedl syndrome	GPathogenic
Select item 2498202	Single allele	AIFM3, ARVCF +190 more	Deletion	22q11.2 deletion syndrome	GPathogenic
Select item 2445211	Single allele	AIFM3, ARVCF +45 more	Deletion	See cases	GPathogenic
Select item 2424095	NC_000022.10:g.(?_17565982)_(20052185_?)del	ADA2, ARVCF +35 more	Deletion	Vasculitis due to ADA2 deficiency +1 more	GPathogenic
Select item 2352410	NM_000754.4(COMT):c.700C>T (p.Arg234Cys)	ARVCF, COMT (R234C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336011	NM_000754.4(COMT):c.756G>C (p.Glu252Asp)	ARVCF, COMT (E202D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289835	NM_000754.4(COMT):c.718G>C (p.Glu240Gln)	ARVCF, COMT (E190Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214411	NM_000754.4(COMT):c.428C>G (p.Pro143Arg)	COMT (P93R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2061846	NM_006440.5(TXNRD2):c.14C>G (p.Ala5Gly)	COMT, TXNRD2 (A5G)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1982942	NM_006440.5(TXNRD2):c.6G>C (p.Ala2=)	COMT, TXNRD2	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 1949005	NM_006440.5(TXNRD2):c.1A>G (p.Met1Val)	COMT, TXNRD2 (M1V)	Single nucleotide variant (missense variant +3 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1879568	GRCh37/hg19 22q11.21(chr22:19184000-21416024)x1	AIFM3, ARVCF +38 more	Copy number loss	not provided	GPathogenic
Select item 1879567	GRCh37/hg19 22q11.21(chr22:18894078-21414817)x1	GP1BB, SCARF2 +45 more	Copy number loss	not provided	GPathogenic
Select item 1879566	GRCh37/hg19 22q11.21(chr22:18893888-21570386)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1879565	GRCh37/hg19 22q11.21(chr22:18834445-21414817)x1	TXNRD2, USP41 +45 more	Copy number loss	not provided	GPathogenic
Select item 1808875	GRCh37/hg19 22q11.21(chr22:18644791-21041014)x1	MRPL40, PRODH +37 more	Copy number loss	not provided	GPathogenic
Select item 1808741	GRCh37/hg19 22q11.21(chr22:18916843-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	not provided	GPathogenic
Select item 1808737	GRCh37/hg19 22q11.21(chr22:18916843-21075592)x1	ARVCF, C22orf39 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808679	GRCh37/hg19 22q11.21(chr22:19336598-21208828)x1	ARVCF, C22orf39 +30 more	Copy number loss	not provided	GPathogenic
Select item 1808642	GRCh37/hg19 22q11.21(chr22:18644543-21800797)x1	C22orf39, CDC45 +49 more	Copy number loss	not provided	GPathogenic
Select item 1808633	GRCh37/hg19 22q11.21(chr22:18916843-21915509)x1	AIFM3, ARVCF +50 more	Copy number loss	not provided	GPathogenic
Select item 1808620	GRCh37/hg19 22q11.21(chr22:18648867-21798907)x3	LZTR1, KLHL22 +49 more	Copy number gain	not provided	GPathogenic
Select item 1808608	GRCh37/hg19 22q11.21(chr22:18916828-21800797)x1	AIFM3, ARVCF +47 more	Copy number loss	not provided	GPathogenic
Select item 1808421	GRCh37/hg19 22q11.21(chr22:19046677-21465662)x1	CDC45, CLTCL1 +43 more	Copy number loss	not provided	GPathogenic
Select item 1808239	GRCh37/hg19 22q11.21(chr22:18916843-20311858)x1	ARVCF, C22orf39 +26 more	Copy number loss	not provided	GPathogenic
Select item 1808077	GRCh37/hg19 22q11.21(chr22:18648867-20311858)x3	ARVCF, C22orf39 +28 more	Copy number gain	not provided	GPathogenic
Select item 1807875	GRCh37/hg19 22q11.21(chr22:19647905-21153690)x1	ARVCF, COMT +24 more	Copy number loss	not provided	GPathogenic
Select item 1807729	GRCh37/hg19 22q11.21(chr22:18916843-21033401)x1	CDC45, CLDN5 +35 more	Copy number loss	not provided	GPathogenic
Select item 1807726	GRCh37/hg19 22q11.21(chr22:18916843-21800471)x1	C22orf39, AIFM3 +47 more	Copy number loss	not provided	GPathogenic
Select item 1807719	GRCh37/hg19 22q11.21(chr22:18916843-21804563)x3	AIFM3, ARVCF +47 more	Copy number gain	not provided	GPathogenic
Select item 1807705	GRCh37/hg19 22q11.21(chr22:18648867-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	not provided	GPathogenic
Select item 1807702	GRCh37/hg19 22q11.21(chr22:18916843-21798907)x3	RTL10, RTN4R +47 more	Copy number gain	not provided	GPathogenic
Select item 1798657	NM_006440.5(TXNRD2):c.-2C>T	COMT, TXNRD2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1794907	NM_006440.5(TXNRD2):c.26G>C (p.Arg9Pro)	TXNRD2, COMT (R9P)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1785878	NM_006440.5(TXNRD2):c.20C>T (p.Ala7Val)	COMT, TXNRD2 (A7V)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1785876	NM_006440.5(TXNRD2):c.20C>G (p.Ala7Gly)	COMT, TXNRD2 (A7G)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1780378	NM_006440.5(TXNRD2):c.17T>C (p.Val6Ala)	COMT, TXNRD2 (V6A)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype	GUncertain significance
Select item 1750981	NM_006440.5(TXNRD2):c.-5C>A	COMT, TXNRD2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1711557	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x3	AIFM3, ARVCF +45 more	Copy number gain	not provided	GPathogenic
Select item 1710917	GRCh37/hg19 22q11.21(chr22:18916842-21465659)x1	AIFM3, ARVCF +44 more	Copy number loss	See cases	GPathogenic
Select item 1708200	GRCh37/hg19 22q11.21(chr22:18644542-21465659)x1	AIFM3, ARVCF +46 more	Copy number loss	See cases	GPathogenic
Select item 1707629	GRCh37/hg19 22q11.21(chr22:18718623-21563155)x1	AIFM3, ESS2 +47 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1707626	GRCh37/hg19 22q11.21(chr22:18644702-21467607)x1	USP18, USP41 +52 more	Copy number loss	Syndromic anorectal malformation	GPathogenic
Select item 1703650	GRCh37/hg19 22q11.1-11.21(chr22:16888899-21915509)	ADA2, AIFM3 +68 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703649	GRCh37/hg19 22q11.21(chr22:18916827-21804886)	AIFM3, ARVCF +47 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703647	GRCh37/hg19 22q11.21(chr22:18917047-21465659)	AIFM3, ARVCF +44 more	Copy number gain	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703644	GRCh37/hg19 22q11.21(chr22:18893344-21650280)	AIFM3, ARVCF +46 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703643	GRCh37/hg19 22q11.21(chr22:18648866-21798907)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703642	GRCh37/hg19 22q11.21(chr22:18644790-21800471)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703641	GRCh37/hg19 22q11.21(chr22:18916842-21798907)	AIFM3, ARVCF +47 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703640	GRCh37/hg19 22q11.21(chr22:18644790-21798907)	ESS2, FAM230A +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703639	GRCh37/hg19 22q11.21(chr22:18645353-21800797)	AIFM3, ARVCF +49 more	Copy number loss	DiGeorge syndrome	GPathogenic
Select item 1703237	Single allele	LOC108510655, LOC110120888 +169 more	Duplication	Chromosome 22q11.2 microduplication syndrome	GPathogenic
Select item 1703235	Single allele	LOC130066968, LOC130066969 +169 more	Deletion	Chromosome 22q11.2 deletion syndrome, distal	GPathogenic
Select item 1701447	GRCh37/hg19 22q11.21(chr22:18893888-21414817)x1	RTL10, USP41 +45 more	Copy number loss	not provided	GPathogenic
Select item 1684640	Single allele	LOC130066986, LOC130066994 +170 more	Deletion	Velocardiofacial syndrome	GPathogenic
Select item 1684558	GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1	AIFM3, ARVCF +41 more	Copy number loss	See cases	GPathogenic
Select item 1684555	GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1	AIFM3, ARVCF +45 more	Copy number loss	See cases	GPathogenic
Select item 1591345	NM_006440.5(TXNRD2):c.21G>A (p.Ala7=)	COMT, TXNRD2	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy	GLikely benign
Select item 1583601	NM_006440.5(TXNRD2):c.6G>T (p.Ala2=)	COMT, TXNRD2	Single nucleotide variant (synonymous variant +2 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 1449488	NC_000022.10:g.(?_19929214)_(19929336_?)dup	COMT, TXNRD2	Duplication	Primary dilated cardiomyopathy	GUncertain significance
Select item 1446528	NC_000022.10:g.(?_19918553)_(19969614_?)del	ARVCF, COMT +1 more	Deletion	Primary dilated cardiomyopathy	GUncertain significance

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