DSC2[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2565084	NM_024422.6(DSC2):c.2432del (p.Gly811fs)	DSC2 (G811fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1791176	NM_024422.6(DSC2):c.2431G>T (p.Gly811Ter)	DSC2 (G668* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 2866650	NM_024422.6(DSC2):c.2307T>A (p.Cys769Ter)	DSC2 (C626* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 2499179	NM_024422.6(DSC2):c.2251-74_2279del	DSC2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 536289	NC_000018.10:g.(?_31070706)_(31070870_?)del	DSC2	Deletion	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 1482220	NM_024422.6(DSC2):c.2250+1G>C	DSC2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely pathogenic
Select item 2824457	NM_024422.6(DSC2):c.2203C>T (p.Gln735Ter)	DSC2 (Q592* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 568186	NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter)	DSC2 (Q734*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 662906	NM_024422.6(DSC2):c.2186del (p.Pro729fs)	DSC2 (P729fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GPathogenic
Select item 1381031	NM_024422.6(DSC2):c.2136dup (p.Thr713fs)	DSC2 (T713fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 2835126	NM_024422.6(DSC2):c.2136del (p.Phe712fs)	DSC2 (F712fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 523695	NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs)	DSC2 (F708fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GPathogenic/Likely pathogenic
Select item 1451178	NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter)	DSC2 (W695*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 1687720	NM_024422.6(DSC2):c.1920dup (p.Pro641fs)	DSC2 (P641fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely pathogenic
Select item 2683755	NM_024422.6(DSC2):c.1888+2T>C	DSC2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely pathogenic
Select item 1322771	NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter)	DSC2 (Q620*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1455627	NM_024422.6(DSC2):c.1840_1841dup (p.Ser614fs)	DSC2 (S614fs)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 31635	NM_024422.6(DSC2):c.1841del (p.Ser614fs)	DSC2 (S614fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair	GPathogenic
Select item 1779905	NM_024422.6(DSC2):c.1777G>T (p.Glu593Ter)	DSC2 (E450* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 1359544	NM_024422.6(DSC2):c.1720_1733del (p.Asn573_Ser574insTer)	DSC2	Deletion (nonsense)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 235909	NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter)	DSC2 (Q554*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 418167	NM_024422.6(DSC2):c.1635_1636dup (p.Asn546fs)	DSC2 (N546fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 1693178	NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter)	DSC2 (S526*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 1075964	NM_024422.6(DSC2):c.1571del (p.Thr524fs)	DSC2 (T524fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 264340	NM_024422.6(DSC2):c.1521-1G>A	DSC2	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 2022403	NM_024422.6(DSC2):c.1520+1G>A	DSC2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely pathogenic
Select item 956109	NM_024422.6(DSC2):c.1486del (p.Tyr496fs)	DSC2 (Y496fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 16848	NM_024422.6(DSC2):c.1430del (p.Thr477fs)	DSC2 (T477fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 852942	NM_024422.6(DSC2):c.1370_1371dup (p.Val458fs)	DSC2 (V458fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 1499020	NM_024422.6(DSC2):c.1264-1G>A	DSC2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely pathogenic
Select item 2132520	NM_024422.6(DSC2):c.1260del (p.Lys421fs)	DSC2 (K421fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 1694869	NM_024422.6(DSC2):c.1239del (p.Asn413fs)	DSC2 (N413fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2705962	NM_024422.6(DSC2):c.1187dup (p.Leu396fs)	DSC2 (L253fs +1 more)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 2413319	NM_024422.6(DSC2):c.1187T>G (p.Leu396Ter)	DSC2 (L253* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 546042	NM_024422.6(DSC2):c.1167G>A (p.Trp389Ter)	DSC2 (W389*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1405349	NM_024422.6(DSC2):c.1053_1059del (p.His351fs)	DSC2 (H351fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 1429683	NM_024422.6(DSC2):c.1023dup (p.Ile342fs)	DSC2 (I342fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 468388	NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter)	DSC2 (Y332*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 2024891	NM_024422.6(DSC2):c.991C>T (p.Gln331Ter)	DSC2 (Q188* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 1967841	NM_024422.6(DSC2):c.929delinsTT (p.Gln310fs)	DSC2 (Q310fs)	Indel (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 410650	NM_024422.6(DSC2):c.882dup (p.Phe295fs)	DSC2 (F295fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 1300575	NM_024422.6(DSC2):c.880del (p.Leu294fs)	DSC2 (L294fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 3027249	NM_024422.6(DSC2):c.834_835dup (p.Arg279fs)	DSC2 (R136fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 523128	NM_024422.6(DSC2):c.749T>C (p.Phe250Ser)	DSC2 (F250S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely pathogenic
Select item 1068704	NM_024422.6(DSC2):c.729del (p.Phe243fs)	DSC2 (F243fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 2880847	NM_024422.6(DSC2):c.686del (p.Leu229fs)	DSC2 (L229fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 1319918	NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer)	DSC2	Deletion (nonsense)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 162504	NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter)	DSC2 (Y221*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 1750194	NM_024422.6(DSC2):c.587_597del (p.Tyr196fs)	DSC2 (Y196fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 3067807	NM_024422.6(DSC2):c.584_595delinsCA (p.Leu195fs)	DSC2 (L195fs +1 more)	Indel (frameshift variant)	not provided	GPathogenic
Select item 1749235	NM_024422.6(DSC2):c.571_572dup (p.Asp191fs)	DSC2 (D191fs)	Microsatellite (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1693187	NM_024422.6(DSC2):c.501_502dup (p.Thr168fs)	DSC2 (T168fs)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 961444	NM_024422.6(DSC2):c.474+2T>A	DSC2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely pathogenic
Select item 1067443	NM_024422.6(DSC2):c.474+1G>T	DSC2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely pathogenic
Select item 422733	NM_024422.6(DSC2):c.473del (p.Gln158fs)	DSC2 (Q158fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1741492	NM_024422.6(DSC2):c.456_458delinsCG (p.Pro153fs)	DSC2 (P153fs)	Indel (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1678125	NM_024422.6(DSC2):c.355-1G>A	DSC2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 3227847	NM_024422.6(DSC2):c.354+2T>A	DSC2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1182317	NM_024422.6(DSC2):c.354+1G>T	DSC2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 536288	NC_000018.9:g.(?_28673502)_(28673626_?)dup	DSC2	Duplication	Arrhythmogenic right ventricular dysplasia 11	GLikely pathogenic
Select item 2691163	NM_024422.6(DSC2):c.154+2T>A	DSC2	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GLikely pathogenic
Select item 1515598	NM_024422.6(DSC2):c.154+2T>C	DSC2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely pathogenic
Select item 46168	NM_024422.6(DSC2):c.154+1G>A	DSC2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 2982386	NM_024422.6(DSC2):c.133del (p.Ala45fs)	DSC2 (A45fs)	Deletion (5 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 817185	NM_024422.6(DSC2):c.123del (p.Lys42fs)	DSC2 (K42fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GPathogenic/Likely pathogenic
Select item 1074769	NM_024422.6(DSC2):c.110_114del (p.Leu37fs)	DSC2 (L37fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 424228	NM_024422.6(DSC2):c.101dup (p.Asn34fs)	DSC2 (N34fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 504024	NM_024422.6(DSC2):c.77del (p.Ile26fs)	DSC2 (I26fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2426821	NC_000018.9:g.(?_28673522)_(28673606_?)del	DSC2	Deletion	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 2426820	NC_000018.9:g.(?_28681846)_(28681934_?)del	DSC2	Deletion	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 831421	NC_000018.10:g.(?_31068005)_(31070860_?)del	DSC2	Deletion	Arrhythmogenic right ventricular dysplasia 11	GLikely pathogenic
Select item 536290	NC_000018.9:g.(?_28654629)_(28673626_?)dup	DSC2	Duplication	Arrhythmogenic right ventricular dysplasia 11	GPathogenic

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Items: 73