Related gene-specific medical variations 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 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 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 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 2652873	NM_000754.4(COMT):c.*578G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 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 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 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 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 1339933	NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala)	COMT, TXNRD2 (G10A)	Single nucleotide variant (missense variant +2 more)	Primary dilated cardiomyopathy	GUncertain significance
Select item 1208611	NC_000022.11:g.19941868_19941883dup	TXNRD2, COMT +1 more	Duplication (5 prime UTR variant)	not provided	GLikely benign
Select item 1185877	NC_000022.11:g.19942002T>C	COMT, LOC130066962 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1000359	NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr)	COMT, TXNRD2 (M1T)	Single nucleotide variant (missense variant +3 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 829796	NM_000754.4(COMT):c.-200C>T	COMT, TXNRD2	Single nucleotide variant (synonymous variant +2 more)	Tramadol response	Gdrug response
Select item 829795	NM_000754.4(COMT):c.-198C>T	COMT, TXNRD2 (A5T)	Single nucleotide variant (missense variant +2 more)	Tramadol response	Gdrug response
Select item 829794	NM_000754.4(COMT):c.-197C>T	COMT, TXNRD2 (M4I)	Single nucleotide variant (missense variant +2 more)	Tramadol response	Gdrug response
Select item 829793	NM_000754.4(COMT):c.-182C>T	COMT, TXNRD2	Single nucleotide variant (5 prime UTR variant +1 more)	Tramadol response	Gdrug response
Select item 829789	NM_000754.4(COMT):c.-91-9492C>T	COMT, LOC112694766	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829788	NM_000754.4(COMT):c.-91-9455G>A	COMT, LOC112694766	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829761	NM_000754.4(COMT):c.616-68C>T	ARVCF, COMT	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829760	NM_000754.4(COMT):c.616-45G>C	ARVCF, COMT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 829759	NM_000754.4(COMT):c.616-40C>T	ARVCF, COMT	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 829758	NM_000754.4(COMT):c.620G>A (p.Cys207Tyr)	ARVCF, COMT (C207Y +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829757	NM_000754.4(COMT):c.623G>A (p.Gly208Asp)	ARVCF, COMT (G208D +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829756	NM_000754.4(COMT):c.666C>A (p.Ile222=)	ARVCF, COMT	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 829755	NM_000754.4(COMT):c.704G>A (p.Gly235Glu)	ARVCF, COMT (G185E +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829754	NM_000754.4(COMT):c.707G>A (p.Ser236Asn)	ARVCF, COMT (S186N +1 more)	Single nucleotide variant (missense variant)	Tramadol response	Gdrug response
Select item 829753	NM_000754.4(COMT):c.720G>A (p.Glu240=)	ARVCF, COMT	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 829752	NM_000754.4(COMT):c.733C>T (p.Gln245Ter)	ARVCF, COMT (Q245* +1 more)	Single nucleotide variant (nonsense)	Tramadol response	Gdrug response
Select item 829751	NM_000754.4(COMT):c.769C>T (p.Leu257=)	ARVCF, COMT	Single nucleotide variant (synonymous variant)	Tramadol response	Gdrug response
Select item 829750	NM_000754.4(COMT):c.*11G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829749	NM_000754.4(COMT):c.*17C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829748	NM_000754.4(COMT):c.*20C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829747	NM_000754.4(COMT):c.*22C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829746	NM_000754.4(COMT):c.*43G>C	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829745	NM_000754.4(COMT):c.*585A>G	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829744	NM_000754.4(COMT):c.*604G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829743	NM_000754.4(COMT):c.*623C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829742	NM_000754.4(COMT):c.*626T>C	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829741	NM_000754.4(COMT):c.*631C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829740	NM_000754.4(COMT):c.*638T>C	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829739	NM_000754.4(COMT):c.*647C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829738	NM_000754.4(COMT):c.*648T>C	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829737	NM_000754.4(COMT):c.*649C>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829736	NM_000754.4(COMT):c.*650C>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829735	NM_000754.4(COMT):c.*706C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829734	NM_000754.4(COMT):c.*708C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829733	NM_000754.4(COMT):c.*749C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829732	NM_000754.4(COMT):c.*764C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829731	NM_000754.4(COMT):c.*783G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829730	NM_000754.4(COMT):c.*855G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829729	NM_000754.4(COMT):c.*1025C>G	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829728	NM_000754.4(COMT):c.*1061G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829727	NM_000754.4(COMT):c.*1078G>C	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829726	NM_000754.4(COMT):c.*1083G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829725	NM_000754.4(COMT):c.*1091C>G	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829724	NM_000754.4(COMT):c.*1132C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829723	NM_000754.4(COMT):c.*1134A>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829722	NM_000754.4(COMT):c.*1158del	ARVCF, COMT	Deletion (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829721	NM_000754.4(COMT):c.*1159G>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829720	NM_000754.4(COMT):c.*1169T>C	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 829719	NM_000754.4(COMT):c.*1214A>C	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828995	NM_000754.4(COMT):c.-159G>T	LOC130066961, COMT	Single nucleotide variant (5 prime UTR variant)	Tramadol response	Gdrug response
Select item 828994	NM_000754.4(COMT):c.-101C>T	LOC130066961, COMT	Single nucleotide variant (5 prime UTR variant)	Tramadol response	Gdrug response
Select item 828993	NM_000754.4(COMT):c.-92+87del	COMT, LOC130066962	Deletion (intron variant)	Tramadol response	Gdrug response
Select item 828965	NM_000754.4(COMT):c.480C>G (p.Asp160Glu)	COMT, MIR4761 (D110E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Tramadol response	Gdrug response
Select item 828954	NM_000754.4(COMT):c.616-124C>A	ARVCF, COMT	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828953	NM_000754.4(COMT):c.616-119C>A	ARVCF, COMT	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828952	NM_000754.4(COMT):c.616-116A>G	ARVCF, COMT	Single nucleotide variant (intron variant)	Tramadol response	Gdrug response
Select item 828951	NM_000754.4(COMT):c.*61G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828950	NM_000754.4(COMT):c.*90G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828949	NM_000754.4(COMT):c.*155A>C	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828948	NM_000754.4(COMT):c.*212G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828947	NM_000754.4(COMT):c.*251A>G	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828946	NM_000754.4(COMT):c.*296C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828945	NM_000754.4(COMT):c.*300T>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828944	NM_000754.4(COMT):c.*319T>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828943	NM_000754.4(COMT):c.*321C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828942	NM_000754.4(COMT):c.*345G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828941	NM_000754.4(COMT):c.376_381del	ARVCF, COMT	Deletion (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828940	NM_000754.4(COMT):c.*397del	ARVCF, COMT	Deletion (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828939	NM_000754.4(COMT):c.*412G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828938	NM_000754.4(COMT):c.*522G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response

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