ClinVar for Gene (Select 1824) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242756	NC_000018.9:g.(?_28647981)_(29178638_?)del	DSC1, TTR +5 more	Deletion	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 3227848	NM_024422.6(DSC2):c.921A>G (p.Thr307=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227847	NM_024422.6(DSC2):c.354+2T>A	DSC2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3227846	NM_024422.6(DSC2):c.330T>C (p.Phe110=)	DSC2	Single nucleotide variant (5 prime UTR variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227845	NM_024422.6(DSC2):c.271_272insCAAT (p.Lys91fs)	DSC2 (K91fs)	Insertion (5 prime UTR variant +1 more)	Cardiovascular phenotype	GPathogenic
Select item 3227844	NM_024422.6(DSC2):c.2591C>G (p.Ser864Trp)	DSC2 (S721W +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227843	NM_024422.6(DSC2):c.2277A>G (p.Gln759=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227842	NM_024422.6(DSC2):c.2233C>T (p.Pro745Ser)	DSC2 (P602S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227841	NM_024422.6(DSC2):c.2164T>C (p.Ser722Pro)	DSC2 (S579P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227839	NM_024422.6(DSC2):c.1683G>T (p.Gly561=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3227838	NM_024422.6(DSC2):c.1646T>C (p.Val549Ala)	DSC2 (V406A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227837	NM_024422.6(DSC2):c.1396G>A (p.Asp466Asn)	DSC2 (D323N +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227836	NM_024422.6(DSC2):c.1058C>G (p.Pro353Arg)	DSC2 (P210R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3085851	NM_024422.6(DSC2):c.716A>G (p.Asn239Ser)	DSC2 (N239S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3085850	NM_024422.6(DSC2):c.458C>G (p.Pro153Arg)	DSC2 (P10R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3075460	NM_024422.6(DSC2):c.1820C>T (p.Pro607Leu)	DSC2 (P464L +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3075452	NM_024422.6(DSC2):c.2230G>T (p.Ala744Ser)	DSC2 (A601S +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3075169	NM_024422.6(DSC2):c.1951del (p.Thr651fs)	DSC2 (T508fs +1 more)	Deletion (frameshift variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3075168	NM_024422.6(DSC2):c.2216T>C (p.Val739Ala)	DSC2 (V596A +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3075026	NM_024422.6(DSC2):c.521G>C (p.Arg174Thr)	DSC2 (R174T +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074949	NM_024422.6(DSC2):c.1376C>T (p.Thr459Ile)	DSC2 (T316I +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074889	NM_024422.6(DSC2):c.*1G>A	DSC2	Single nucleotide variant (3 prime UTR variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074776	NM_024422.6(DSC2):c.1009A>G (p.Thr337Ala)	DSC2 (T194A +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074757	NM_024422.6(DSC2):c.2057G>A (p.Gly686Asp)	DSC2 (G543D +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074753	NM_024422.6(DSC2):c.1063T>G (p.Phe355Val)	DSC2 (F212V +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074727	NM_024422.6(DSC2):c.1766T>G (p.Met589Arg)	DSC2 (M446R +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074668	NM_024422.6(DSC2):c.754del (p.Ile252fs)	DSC2 (I109fs +1 more)	Deletion (frameshift variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074662	NM_024422.6(DSC2):c.2125_2126insA (p.Cys709Ter)	DSC2 (C566* +1 more)	Insertion (nonsense)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074661	NM_024422.6(DSC2):c.2125T>A (p.Cys709Ser)	DSC2 (C566S +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074629	NM_024422.6(DSC2):c.1805C>G (p.Pro602Arg)	DSC2 (P459R +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074576	NM_024422.6(DSC2):c.898A>C (p.Thr300Pro)	DSC2 (T157P +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074561	NM_024422.6(DSC2):c.1426C>A (p.Gln476Lys)	DSC2 (Q333K +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074527	NM_024422.6(DSC2):c.278G>A (p.Ser93Asn)	DSC2 (S93N)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074517	NM_024422.6(DSC2):c.78A>G (p.Ile26Met)	DSC2 (I26M)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074436	NM_024422.6(DSC2):c.2049A>G (p.Pro683=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 3074303	NM_024422.6(DSC2):c.899C>A (p.Thr300Asn)	DSC2 (T157N +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074279	NM_024422.6(DSC2):c.1197T>C (p.Asn399=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 3074276	NM_024422.6(DSC2):c.1611A>G (p.Ala537=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 3074210	NM_024422.6(DSC2):c.1521-12C>A	DSC2	Single nucleotide variant (intron variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074185	NM_024422.6(DSC2):c.482C>T (p.Ser161Phe)	DSC2 (S161F +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074095	NM_024422.6(DSC2):c.1892C>G (p.Thr631Arg)	DSC2 (T488R +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074051	NM_024422.6(DSC2):c.1856T>C (p.Val619Ala)	DSC2 (V476A +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3074003	NM_024422.6(DSC2):c.98A>G (p.Lys33Arg)	DSC2 (K33R)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073981	NM_024422.6(DSC2):c.2437C>A (p.His813Asn)	DSC2 (H670N +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073967	NM_024422.6(DSC2):c.1424T>A (p.Ile475Lys)	DSC2 (I332K +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073857	NM_024422.6(DSC2):c.2329A>G (p.Lys777Glu)	DSC2 (K634E +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073754	NM_024422.6(DSC2):c.1399G>A (p.Glu467Lys)	DSC2 (E324K +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073720	NM_024422.6(DSC2):c.703G>A (p.Asp235Asn)	DSC2 (D235N +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073633	NM_024422.6(DSC2):c.2548_2549insT (p.Ala850fs)	DSC2 (A707fs +1 more)	Insertion (frameshift variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073569	NM_024422.6(DSC2):c.2491C>T (p.Gln831Ter)	DSC2 (Q688* +1 more)	Single nucleotide variant (nonsense)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073500	NM_024422.6(DSC2):c.679C>A (p.Leu227Met)	DSC2 (L227M +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073491	NM_024422.6(DSC2):c.416C>T (p.Pro139Leu)	DSC2 (P139L)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073420	NM_024422.6(DSC2):c.1125A>G (p.Arg375=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 3073398	NM_024422.6(DSC2):c.2637T>C (p.Asp879=)	DSC2	Single nucleotide variant (synonymous variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 3073377	NM_024422.6(DSC2):c.2319A>G (p.Gly773=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 3073323	NM_024422.6(DSC2):c.2434G>C (p.Gly812Arg)	DSC2 (G669R +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073216	NM_024422.6(DSC2):c.397G>T (p.Ala133Ser)	DSC2 (A133S)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073118	NM_024422.6(DSC2):c.1502G>A (p.Arg501Lys)	DSC2 (R358K +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3073050	NM_024422.6(DSC2):c.213C>G (p.Phe71Leu)	DSC2 (F71L)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072938	NM_024422.6(DSC2):c.990T>A (p.Gly330=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 3072933	NM_024422.6(DSC2):c.2040T>G (p.Arg680=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072917	NM_024422.6(DSC2):c.53T>G (p.Leu18Arg)	DSC2, DSCAS (L18R)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072872	NM_024422.6(DSC2):c.1138G>A (p.Asp380Asn)	DSC2 (D380N)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072832	NM_024422.6(DSC2):c.2478G>A (p.Trp826Ter)	DSC2 (W683* +1 more)	Single nucleotide variant (nonsense)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072825	NM_024422.6(DSC2):c.1996G>T (p.Val666Phe)	DSC2 (V523F +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072813	NM_024422.6(DSC2):c.682C>G (p.Pro228Ala)	DSC2 (P228A +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072747	NM_024422.6(DSC2):c.320A>G (p.Lys107Arg)	DSC2 (K107R)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072743	NM_024422.6(DSC2):c.401A>C (p.Lys134Thr)	DSC2 (K134T)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072617	NM_024422.6(DSC2):c.1784T>C (p.Val595Ala)	DSC2 (V452A +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072577	NM_024422.6(DSC2):c.1684A>G (p.Thr562Ala)	DSC2 (T419A +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072530	NM_024422.6(DSC2):c.353del (p.Lys118fs)	DSC2 (K118fs)	Deletion (frameshift variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072471	NM_024422.6(DSC2):c.2051G>A (p.Arg684Lys)	DSC2 (R541K +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072387	NM_024422.6(DSC2):c.200G>A (p.Ser67Asn)	DSC2 (S67N)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072369	NM_024422.6(DSC2):c.251C>G (p.Thr84Ser)	DSC2 (T84S)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072343	NM_024422.6(DSC2):c.2189A>T (p.Asp730Val)	DSC2 (D587V +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072342	NM_024422.6(DSC2):c.2003T>A (p.Leu668Gln)	DSC2 (L525Q +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072285	NM_024422.6(DSC2):c.1625dup (p.Asn542fs)	DSC2 (N399fs +1 more)	Duplication (frameshift variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072189	NM_024422.6(DSC2):c.41T>G (p.Leu14Arg)	DSC2, DSCAS (L14R)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072151	NM_024422.6(DSC2):c.2131C>G (p.Leu711Val)	DSC2 (L568V +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072149	NM_024422.6(DSC2):c.2482A>C (p.Ser828Arg)	DSC2 (S685R +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072074	NM_024422.6(DSC2):c.2264G>A (p.Gly755Asp)	DSC2 (G612D +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072069	NM_024422.6(DSC2):c.1452A>T (p.Ala484=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 3072058	NM_024422.6(DSC2):c.191T>C (p.Ile64Thr)	DSC2 (I64T)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072045	NM_024422.6(DSC2):c.2121C>A (p.Leu707=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 3072023	NM_024422.6(DSC2):c.1531T>G (p.Leu511Val)	DSC2 (L368V +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072020	NM_024422.6(DSC2):c.143TTG[1] (p.Val49del)	DSC2 (V49del)	Microsatellite (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3071997	NM_024422.6(DSC2):c.706G>A (p.Glu236Lys)	DSC2 (E236K +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3071954	NM_024422.6(DSC2):c.2541C>A (p.His847Gln)	DSC2 (H704Q +1 more)	Single nucleotide variant (missense variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3071946	NM_024422.6(DSC2):c.878C>T (p.Thr293Ile)	DSC2 (T150I +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3071922	NM_024422.6(DSC2):c.2590T>G (p.Ser864Ala)	DSC2 (S721A +1 more)	Single nucleotide variant (missense variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3071865	NM_024422.6(DSC2):c.1066dup (p.Thr356fs)	DSC2 (T213fs +1 more)	Duplication (frameshift variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3071851	NM_024422.6(DSC2):c.131A>G (p.Asp44Gly)	DSC2 (D44G)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3071839	NM_024422.6(DSC2):c.2012G>C (p.Cys671Ser)	DSC2 (C528S +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +1 more	GUncertain significance
Select item 3071689	NM_024422.6(DSC2):c.2470T>G (p.Ser824Ala)	DSC2 (S681A +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3071682	NM_024422.6(DSC2):c.2009A>G (p.Asp670Gly)	DSC2 (D527G +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3071676	NM_024422.6(DSC2):c.2253T>C (p.Tyr751=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 3071666	NM_024422.6(DSC2):c.1251T>C (p.Leu417=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 3071619	NM_024422.6(DSC2):c.302C>A (p.Thr101Asn)	DSC2 (T101N)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3071568	NM_024422.6(DSC2):c.70A>C (p.Ile24Leu)	DSC2 (I24L)	Single nucleotide variant (5 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3071549	NM_024422.6(DSC2):c.475-2A>C	DSC2	Single nucleotide variant (splice acceptor variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance

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