DSP[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[p - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 915713	NM_004415.4(DSP):c.171T>A (p.Cys57Ter)	DSP (C57*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GLikely pathogenic
Select item 3074239	NM_004415.4(DSP):c.202C>T (p.Gln68Ter)	DSP (Q68*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 163230	NM_004415.4(DSP):c.208_209dup (p.Ile71fs)	DSP (I71fs)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 44872	NM_004415.4(DSP):c.214C>T (p.Gln72Ter)	DSP (Q72*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 505712	NM_004415.4(DSP):c.226C>T (p.Gln76Ter)	DSP (Q76*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely pathogenic
Select item 199914	NM_004415.4(DSP):c.243_251del (p.Cys81_Arg84delinsTer)	DSP	Deletion (nonsense)	not provided	GPathogenic
Select item 2632674	NM_004415.4(DSP):c.243del (p.Cys81_Leu82insTer)	DSP	Deletion (frameshift variant)	DSP-related disorder	GLikely pathogenic
Select item 2953301	NM_004415.4(DSP):c.247_248del (p.Met83fs)	DSP (M83fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2587384	NM_004415.4(DSP):c.250_273+1del	DSP	Deletion (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 451211	NM_004415.4(DSP):c.250C>T (p.Arg84Ter)	DSP (R84*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 265102	NM_004415.4(DSP):c.268C>T (p.Gln90Ter)	DSP (Q90*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GPathogenic
Select item 199915	NM_004415.4(DSP):c.273del (p.Glu92fs)	DSP (E92fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 199847	NM_004415.4(DSP):c.273+1G>A	DSP	Single nucleotide variant (splice donor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GPathogenic/Likely pathogenic
Select item 2940839	NM_004415.4(DSP):c.292G>T (p.Gly98Ter)	DSP (G98*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 853704	NM_004415.4(DSP):c.313C>T (p.Arg105Ter)	DSP (R105*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GPathogenic
Select item 1075966	NM_004415.4(DSP):c.320T>A (p.Leu107Ter)	DSP (L107*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 658607	NM_004415.4(DSP):c.330_334del (p.Phe111fs)	DSP (F111fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 566602	NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter)	DSP (C110*)	Indel (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 817780	NM_004415.4(DSP):c.344_345dup (p.Asp116fs)	DSP (D116fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2103203	NM_004415.4(DSP):c.384dup (p.Arg129fs)	DSP (R129fs)	Duplication (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2943570	NM_004415.4(DSP):c.415del (p.Gln139fs)	DSP (Q139fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2664078	NM_004415.4(DSP):c.422+1G>A	DSP	Single nucleotide variant (splice donor variant)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis +2 more	GLikely pathogenic
Select item 1066387	NM_004415.4(DSP):c.422+2T>G	DSP	Single nucleotide variant (splice donor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely pathogenic
Select item 1066724	NM_004415.4(DSP):c.423-2A>G	DSP	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely pathogenic
Select item 432430	NM_004415.4(DSP):c.423-1G>T	DSP	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GPathogenic/Likely pathogenic
Select item 1425499	NM_004415.4(DSP):c.448C>T (p.Arg150Ter)	DSP (R150*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 464964	NM_004415.4(DSP):c.465del (p.Ile156fs)	DSP (I156fs)	Deletion (frameshift variant)	Cardiomyopathy +2 more	GPathogenic
Select item 44922	NM_004415.4(DSP):c.478C>T (p.Arg160Ter)	DSP (R160*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GPathogenic/Likely pathogenic
Select item 942288	NM_004415.4(DSP):c.490_491insAGCTCGAGTCCCT (p.Ala164fs)	DSP (A164fs)	Insertion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 503972	NM_004415.3(DSP):c.491_492delCCins15 (p.?)	DSP	Indel	not provided	GPathogenic
Select item 179249	NM_004415.4(DSP):c.491_492delinsAGCTCGAGTCCCTCG (p.Ala164fs)	DSP (A164fs)	Indel (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1435272	NM_004415.4(DSP):c.522T>A (p.Cys174Ter)	DSP (C174*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 652401	NM_004415.4(DSP):c.523C>T (p.Gln175Ter)	DSP (Q175*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 3072283	NM_004415.4(DSP):c.526_527del (p.Ser176fs)	DSP (S176fs)	Microsatellite (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 44927	NM_004415.4(DSP):c.534_535insA (p.Gly179fs)	DSP (G179fs)	Insertion (frameshift variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 1748369	NM_004415.4(DSP):c.557_558del (p.His186fs)	DSP (H186fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 2945865	NM_004415.4(DSP):c.573_576del (p.Cys191fs)	DSP (C191fs)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 2942328	NM_004415.4(DSP):c.582G>A (p.Trp194Ter)	DSP (W194*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 1470918	NM_004415.4(DSP):c.597+1G>A	DSP	Single nucleotide variant (splice donor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely pathogenic
Select item 1322784	NM_004415.4(DSP):c.623del (p.Gly208fs)	DSP (G208fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 930487	NM_004415.4(DSP):c.621G>A (p.Trp207Ter)	DSP (W207*)	Single nucleotide variant (nonsense)	Keratosis palmoplantaris striata 2	GLikely pathogenic
Select item 1453153	NM_004415.4(DSP):c.646dup (p.Gln216fs)	DSP (Q216fs)	Duplication (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 2951942	NM_004415.4(DSP):c.698G>A (p.Trp233Ter)	DSP (W233*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 44946	NM_004415.4(DSP):c.699G>A (p.Trp233Ter)	DSP (W233*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +10 more	GPathogenic/Likely pathogenic
Select item 836494	NM_004415.4(DSP):c.700C>T (p.Gln234Ter)	DSP (Q234*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 44948	NM_004415.4(DSP):c.712dup (p.Ile238fs)	DSP (I238fs)	Duplication	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GPathogenic/Likely pathogenic
Select item 1944860	NM_004415.4(DSP):c.729del (p.Glu244fs)	DSP (E244fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2631476	NM_004415.4(DSP):c.747C>A (p.Tyr249Ter)	DSP (Y249*)	Single nucleotide variant (nonsense)	DSP-related disorder	GPathogenic
Select item 1012338	NM_004415.4(DSP):c.748C>T (p.Gln250Ter)	DSP (Q250*)	Single nucleotide variant (nonsense)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis	GPathogenic
Select item 2937827	NM_004415.4(DSP):c.777+2T>C	DSP	Single nucleotide variant (splice donor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely pathogenic
Select item 581651	NM_004415.4(DSP):c.778-2A>G	DSP	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GLikely pathogenic
Select item 1693214	NM_004415.4(DSP):c.793_794del (p.Arg265fs)	DSP (R265fs)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 2442877	NM_004415.4(DSP):c.801_820dup (p.Asn274fs)	DSP (N274fs)	Duplication (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 2136361	NM_004415.4(DSP):c.808C>T (p.Arg270Ter)	DSP (R270*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 1691628	NM_004415.4(DSP):c.811C>T (p.Gln271Ter)	DSP (Q271*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1184590	NM_004415.4(DSP):c.818dup (p.Asn274fs)	DSP (N274fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 834988	NM_004415.4(DSP):c.827_830del (p.Ile276fs)	DSP (I276fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2943617	NM_004415.4(DSP):c.829C>T (p.Gln277Ter)	DSP (Q277*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 3073039	NM_004415.4(DSP):c.855G>A (p.Trp285Ter)	DSP (W285*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GPathogenic
Select item 16839	NM_004415.4(DSP):c.861T>G (p.Asn287Lys)	DSP (N287K)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GPathogenic
Select item 44978	NM_004415.4(DSP):c.867C>A (p.Cys289Ter)	DSP (C289*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GPathogenic/Likely pathogenic
Select item 1426433	NM_004415.4(DSP):c.888C>A (p.Tyr296Ter)	DSP (Y296*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 199855	NM_004415.4(DSP):c.888C>G (p.Tyr296Ter)	DSP (Y296*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2664470	NM_004415.4(DSP):c.893G>A (p.Trp298Ter)	DSP (W298*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic/Likely pathogenic
Select item 1073737	NM_004415.4(DSP):c.894G>A (p.Trp298Ter)	DSP (W298*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2954090	NM_004415.4(DSP):c.897C>A (p.Ser299Arg)	DSP (S299R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 16838	NM_004415.4(DSP):c.897C>G (p.Ser299Arg)	DSP (S299R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8	GPathogenic
Select item 517382	NM_004415.4(DSP):c.919C>T (p.Gln307Ter)	DSP (Q307*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 1354106	NM_004415.4(DSP):c.924dup (p.Gln309fs)	DSP (Q309fs)	Duplication (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 692081	NM_004415.4(DSP):c.925C>T (p.Gln309Ter)	DSP (Q309*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 199916	NM_004415.4(DSP):c.928dup (p.Glu310fs)	DSP (E310fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 2948569	NM_004415.4(DSP):c.931del (p.Ala311fs)	DSP (A311fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 817186	NM_004415.4(DSP):c.935dup (p.Ser313fs)	DSP (S313fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1076116	NM_004415.4(DSP):c.939+1G>T	DSP	Single nucleotide variant (splice donor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 838578	NM_004415.4(DSP):c.939+1del	DSP	Deletion (splice donor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 178282	NM_004415.4(DSP):c.939+1G>A	DSP	Single nucleotide variant (splice donor variant)	Cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 1467653	NM_004415.4(DSP):c.939+2T>C	DSP	Single nucleotide variant (splice donor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 1488934	NM_004415.4(DSP):c.940-2del	DSP	Deletion (splice acceptor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely pathogenic
Select item 855556	NM_004415.4(DSP):c.942dup (p.Arg315fs)	DSP (R315fs)	Duplication (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 636386	NM_004415.4(DSP):c.942del (p.Arg315fs)	DSP (R315fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 16836	NM_004415.4(DSP):c.991C>T (p.Gln331Ter)	DSP (Q331*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +2 more	GPathogenic
Select item 2922082	NM_004415.4(DSP):c.997del (p.Ser333fs)	DSP (S333fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 1443015	NM_004415.4(DSP):c.1003del (p.Gln335fs)	DSP (Q335fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 1452776	NM_004415.4(DSP):c.1009_1010dup (p.Leu338fs)	DSP (L338fs)	Duplication (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2952259	NM_004415.4(DSP):c.1042G>T (p.Glu348Ter)	DSP (E348*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2943373	NM_004415.4(DSP):c.1045-1G>C	DSP	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely pathogenic
Select item 418788	NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs)	DSP (D352fs)	Indel (frameshift variant)	Conduction disorder of the heart +1 more	GPathogenic/Likely pathogenic
Select item 464956	NM_004415.4(DSP):c.1060_1061del (p.Leu354fs)	DSP (L354fs)	Microsatellite (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic
Select item 626736	NM_004415.4(DSP):c.1063C>T (p.Gln355Ter)	DSP (Q355*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GLikely pathogenic
Select item 1379682	NM_004415.4(DSP):c.1080G>A (p.Trp360Ter)	DSP (W360*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 518907	NM_004415.4(DSP):c.1087C>T (p.Gln363Ter)	DSP (Q363*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GPathogenic
Select item 1454040	NM_004415.4(DSP):c.1099_1100del (p.Cys367fs)	DSP (C367fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2130528	NM_004415.4(DSP):c.1119del (p.Glu374fs)	DSP (E374fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GPathogenic
Select item 2775269	NM_004415.4(DSP):c.1138C>T (p.Gln380Ter)	DSP (Q380*)	Single nucleotide variant (nonsense)	Cardiomyopathy +1 more	GLikely pathogenic
Select item 222590	NM_004415.4(DSP):c.1140+2T>G	DSP	Single nucleotide variant (splice donor variant)	Primary dilated cardiomyopathy	GLikely pathogenic
Select item 517383	NM_004415.4(DSP):c.1141-2A>T	DSP	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 199856	NM_004415.4(DSP):c.1141-2A>G	DSP	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1482201	NM_004415.4(DSP):c.1141-1G>A	DSP	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely pathogenic
Select item 44852	NM_004415.4(DSP):c.1146del (p.Phe382fs)	DSP (F382fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GPathogenic
Select item 464957	NM_004415.4(DSP):c.1162del (p.Thr388fs)	DSP (T388fs)	Deletion (frameshift variant)	Cardiovascular phenotype +2 more	GPathogenic

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