Related gene-specific medical variations for Gene (Select 421) - ClinVar

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Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3045453	NM_000754.4(COMT):c.756G>A (p.Glu252=)	ARVCF, COMT	Single nucleotide variant (synonymous variant)	COMT-related disorder	GLikely benign
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 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 930993	NM_001670.3(ARVCF):c.2439-2A>C	ARVCF	Single nucleotide variant (splice acceptor variant)	See cases	GUncertain significance
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 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
Select item 828937	NM_000754.4(COMT):c.*545A>C	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828936	NM_000754.4(COMT):c.*558A>C	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828935	NM_000754.4(COMT):c.*869C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828934	NM_000754.4(COMT):c.*878C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828933	NM_000754.4(COMT):c.*892del	ARVCF, COMT	Deletion (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828932	NM_000754.4(COMT):c.*893C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828931	NM_000754.4(COMT):c.*899C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828930	NM_000754.4(COMT):c.*903C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828929	NM_000754.4(COMT):c.*921C>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828928	NM_000754.4(COMT):c.*935G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828927	NM_000754.4(COMT):c.*936C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828926	NM_000754.4(COMT):c.*941C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828925	NM_000754.4(COMT):c.*956C>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828924	NM_000754.4(COMT):c.*964T>C	COMT, ARVCF	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828923	NM_000754.4(COMT):c.*969A>T	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828922	NM_000754.4(COMT):c.*988C>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828921	NM_000754.4(COMT):c.*1001T>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 828920	NM_000754.4(COMT):c.*1014G>A	ARVCF, COMT	Single nucleotide variant (3 prime UTR variant)	Tramadol response	Gdrug response
Select item 813697	NM_001670.3(ARVCF):c.1837G>A (p.Asp613Asn)	ARVCF (D613N)	Single nucleotide variant (missense variant)	Microcephaly	GUncertain significance
Select item 795073	NM_000754.4(COMT):c.714C>T (p.Cys238=)	COMT, ARVCF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745306	NM_000754.4(COMT):c.616-9T>G	ARVCF, COMT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 256784	NM_000754.4(COMT):c.*10dup	ARVCF, COMT	Duplication (3 prime UTR variant)	not specified +1 more	GBenign

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Links from Gene

Items: 90