ClinVar for MedGen (Select 336069) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954116	NM_004415.4(DSP):c.1386_1389del (p.Leu463fs)	DSP (L463fs)	Deletion (frameshift variant)	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 cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2953974	NM_004415.4(DSP):c.860A>C (p.Asn287Thr)	DSP (N287T)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2953966	NM_004415.4(DSP):c.7619A>T (p.Asp2540Val)	DSP (D1941V +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2953856	NM_004415.4(DSP):c.5551C>T (p.Gln1851Ter)	DSP (Q1252* +2 more)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2953796	NM_004415.4(DSP):c.1903+1G>T	DSP	Single nucleotide variant (splice donor variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely pathogenic
Select item 2953787	NM_004415.4(DSP):c.1815_1820dup (p.Lys607_Ile608insArgLys)	DSP	Duplication (inframe_insertion)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2953688	NM_004415.4(DSP):c.2794-13A>T	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 2953670	NM_004415.4(DSP):c.7689G>C (p.Leu2563Phe)	DSP (L2563F +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2953604	NM_004415.4(DSP):c.3134G>C (p.Arg1045Pro)	DSP (R1045P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2953591	NM_004415.4(DSP):c.2794-17T>G	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2953580	NM_004415.4(DSP):c.5262_5266dup (p.Leu1756fs)	DSP (L1756fs)	Duplication (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2953579	NM_004415.4(DSP):c.6595C>G (p.Leu2199Val)	DSP (L1600V +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2953527	NM_004415.4(DSP):c.1044+5G>T	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2953526	NM_004415.4(DSP):c.8481C>G (p.Ser2827=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
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 2953281	NM_004415.4(DSP):c.2313G>A (p.Arg771=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2953229	NM_004415.4(DSP):c.5440_5441del (p.Ser1814fs)	DSP (S1371fs +2 more)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2953128	NM_004415.4(DSP):c.4951C>T (p.Gln1651Ter)	DSP (Q1651*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2953050	NM_004415.4(DSP):c.7541C>T (p.Ser2514Phe)	DSP (S1915F +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2952976	NM_004415.4(DSP):c.2525C>G (p.Thr842Ser)	DSP (T842S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2952854	NM_004415.4(DSP):c.1575-9G>T	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2952754	NM_004415.4(DSP):c.3018dup (p.Leu1007fs)	DSP (L1007fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2952726	NM_004415.4(DSP):c.1438dup (p.Asp480fs)	DSP (D480fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2952685	NM_004415.4(DSP):c.3045G>A (p.Arg1015=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2952594	NM_004415.4(DSP):c.1125T>C (p.Asn375=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2952500	NM_004415.4(DSP):c.742A>G (p.Ile248Val)	DSP (I248V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2952471	NM_004415.4(DSP):c.727-20T>G	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2952305	NM_004415.4(DSP):c.1965T>C (p.Ile655=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
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 2952226	NM_004415.4(DSP):c.5250G>A (p.Leu1750=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2952222	NM_004415.4(DSP):c.2770_2771dup (p.Met924fs)	DSP (M924fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2952188	NM_004415.4(DSP):c.5548A>C (p.Lys1850Gln)	DSP (K1251Q +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2952113	NM_004415.4(DSP):c.8601T>C (p.Ser2867=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2951961	NM_004415.4(DSP):c.5303_5304dup (p.Leu1769fs)	DSP (L1769fs)	Duplication (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 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 2951857	NM_004415.4(DSP):c.1061T>G (p.Leu354Arg)	DSP (L354R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2951626	NM_004415.4(DSP):c.6859A>G (p.Thr2287Ala)	DSP (T1688A +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2951517	NM_004415.4(DSP):c.420A>G (p.Lys140=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2951428	NM_004415.4(DSP):c.4252C>T (p.Gln1418Ter)	DSP (Q1418*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2951422	NM_004415.4(DSP):c.8140A>T (p.Lys2714Ter)	DSP (K2714* +2 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2951204	NM_004415.4(DSP):c.892T>G (p.Trp298Gly)	DSP (W298G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2951004	NM_004415.4(DSP):c.6827A>G (p.Glu2276Gly)	DSP (E1677G +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2950835	NM_004415.4(DSP):c.3919_3920delinsTT (p.Ala1307Phe)	DSP (A1307F)	Indel (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2950820	NM_004415.4(DSP):c.3243G>T (p.Glu1081Asp)	DSP (E1081D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2950732	NM_004415.4(DSP):c.6118A>G (p.Ile2040Val)	DSP (I1441V +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2950495	NM_004415.4(DSP):c.5438_5441del (p.Glu1813fs)	DSP (E1214fs +2 more)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2950490	NM_004415.4(DSP):c.1701+7C>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2950485	NM_004415.4(DSP):c.3629A>G (p.Tyr1210Cys)	DSP (Y1210C)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2950384	NM_004415.4(DSP):c.3371G>A (p.Arg1124Lys)	DSP (R1124K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2950362	NM_004415.4(DSP):c.4044_4047del (p.Ser1349fs)	DSP (S1349fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2950338	NM_004415.4(DSP):c.2650C>G (p.Gln884Glu)	DSP (Q884E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2950290	NM_004415.4(DSP):c.170+19A>G	DSP, DSP-AS1	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2950273	NM_004415.4(DSP):c.931G>C (p.Ala311Pro)	DSP (A311P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2950261	NM_004415.4(DSP):c.3958A>G (p.Ile1320Val)	DSP (I1320V)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2950252	NM_004415.4(DSP):c.389A>G (p.Gln130Arg)	DSP (Q130R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2950250	NM_004415.4(DSP):c.2311del (p.Arg771fs)	DSP (R771fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2950221	NM_004415.4(DSP):c.439G>C (p.Glu147Gln)	DSP (E147Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2950198	NM_004415.4(DSP):c.8014dup (p.Gln2672fs)	DSP (Q2672fs +2 more)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2950113	NM_004415.4(DSP):c.7214_7217del (p.Leu2405fs)	DSP (L1806fs +2 more)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2949989	NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)	DSP (Q1286*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2949980	NM_004415.4(DSP):c.4462C>T (p.Gln1488Ter)	DSP (Q1488*)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2949950	NM_004415.4(DSP):c.939+11C>G	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2949848	NM_004415.4(DSP):c.4608dup (p.Arg1537fs)	DSP (R1537fs)	Duplication (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2949843	NM_004415.4(DSP):c.4902del (p.Gln1635fs)	DSP (Q1635fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2949735	NM_004415.4(DSP):c.5648C>A (p.Ser1883Ter)	DSP (S1284* +2 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2949694	NM_004415.4(DSP):c.4882_4886delinsTCTT (p.Arg1628fs)	DSP (R1628fs)	Indel (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2949296	NM_004415.4(DSP):c.1276G>T (p.Glu426Ter)	DSP (E426*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2949278	NM_004415.4(DSP):c.3144C>G (p.Asn1048Lys)	DSP (N1048K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2949118	NM_004415.4(DSP):c.6826G>A (p.Glu2276Lys)	DSP (E1677K +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2949110	NM_004415.4(DSP):c.1619T>C (p.Leu540Pro)	DSP (L540P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2949045	NM_004415.4(DSP):c.8478C>T (p.Arg2826=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2949041	NM_004415.4(DSP):c.4749C>A (p.Thr1583=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2949007	NM_004415.4(DSP):c.1702-7_1702-3del	DSP	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2948749	NM_004415.4(DSP):c.6551T>A (p.Val2184Glu)	DSP (V1585E +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2948578	NM_004415.4(DSP):c.7633G>T (p.Asp2545Tyr)	DSP (D2545Y +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
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 2948297	NM_004415.4(DSP):c.1680del (p.Arg561fs)	DSP (R561fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2948276	NM_004415.4(DSP):c.4134C>T (p.His1378=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2948239	NM_004415.4(DSP):c.735A>G (p.Lys245=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2948232	NM_004415.4(DSP):c.1903+15T>C	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2948153	NM_004415.4(DSP):c.7499A>G (p.Glu2500Gly)	DSP (E2057G +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2947959	NM_004415.4(DSP):c.1445_1446del (p.Cys482fs)	DSP (C482fs)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2947917	NM_004415.4(DSP):c.3131C>T (p.Ala1044Val)	DSP (A1044V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2947858	NM_004415.4(DSP):c.8241C>G (p.Thr2747=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2947762	NM_004415.4(DSP):c.6640A>C (p.Arg2214=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2947760	NM_004415.4(DSP):c.962T>A (p.Val321Asp)	DSP (V321D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2947759	NM_004415.4(DSP):c.944_945delinsAA (p.Arg315Gln)	DSP (R315Q)	Indel (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2947559	NM_004415.4(DSP):c.939+8C>G	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2947234	NM_004415.4(DSP):c.5907T>C (p.Asp1969=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2947138	NM_004415.4(DSP):c.1702-7C>G	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2946998	NM_004415.4(DSP):c.1523_1524del (p.Val508fs)	DSP (V508fs)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2946970	NM_004415.4(DSP):c.6605del (p.Leu2201_Ser2202insTer)	DSP	Deletion (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2946927	NM_004415.4(DSP):c.2606G>A (p.Arg869Lys)	DSP (R869K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2946907	NM_004415.4(DSP):c.6278T>C (p.Ile2093Thr)	DSP (I1494T +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2946646	NM_004415.4(DSP):c.123_125dup (p.Tyr42_Ser43insTyr)	DSP-AS1, DSP	Duplication (inframe_insertion)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2946489	NM_004415.4(DSP):c.7204A>G (p.Ser2402Gly)	DSP (S1803G +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2946437	NM_004415.4(DSP):c.7886A>G (p.Glu2629Gly)	DSP (E2629G +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 2946428	NM_004415.4(DSP):c.2528C>G (p.Ser843Ter)	DSP (S843*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GPathogenic
Select item 2946418	NM_004415.4(DSP):c.2338A>G (p.Thr780Ala)	DSP (T780A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance

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