ClinVar for MedGen (Select 373205) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065037	NM_001005242.3(PKP2):c.2446-1G>A	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3021918	NM_001005242.3(PKP2):c.1554A>C (p.Leu518=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 3018358	NM_001005242.3(PKP2):c.261C>T (p.Val87=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign
Select item 3018342	NM_001005242.3(PKP2):c.2271C>T (p.Asn757=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 3014068	NM_001005242.3(PKP2):c.2358-14C>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 3014005	NM_001005242.3(PKP2):c.1882A>G (p.Lys628Glu)	PKP2 (K573E +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 3010342	NM_001005242.3(PKP2):c.1870A>G (p.Lys624Glu)	PKP2 (K668E +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 3010175	NM_001005242.3(PKP2):c.1443T>C (p.Leu481=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 3009769	NM_001005242.3(PKP2):c.2358-20G>T	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 3008483	NM_001005242.3(PKP2):c.808C>T (p.Gln270Ter)	PKP2 (Q270* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3004937	NM_001005242.3(PKP2):c.1557-15dup	PKP2	Duplication (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GBenign
Select item 3003791	NM_001005242.3(PKP2):c.1839+6T>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 3000663	NM_001005242.3(PKP2):c.2229T>G (p.Leu743=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign
Select item 2996297	NM_001005242.3(PKP2):c.1035-20dup	PKP2	Duplication (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2994426	NM_001005242.3(PKP2):c.596T>A (p.Ile199Asn)	PKP2 (I90N +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2989116	NM_001005242.3(PKP2):c.357T>G (p.Tyr119Ter)	PKP2 (Y10* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 2988328	NM_001005242.3(PKP2):c.964G>C (p.Gly322Arg)	PKP2 (G322R +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2982306	NM_001005242.3(PKP2):c.2013+5G>A	PKP2 (S564N +2 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2980475	NM_001005242.3(PKP2):c.433C>T (p.Leu145=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2979986	NM_001005242.3(PKP2):c.275T>C (p.Leu92Ser)	PKP2 (L92S)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2972694	NM_001005242.3(PKP2):c.125G>A (p.Gly42Glu)	PKP2 (G42E)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 2970844	NM_001005242.3(PKP2):c.182A>G (p.Gln61Arg)	PKP2 (Q61R)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2968940	NM_001005242.3(PKP2):c.1726G>A (p.Ala576Thr)	PKP2 (A620T +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2966921	NM_001005242.3(PKP2):c.1378+17A>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2964183	NM_001005242.3(PKP2):c.2384C>T (p.Ala795Val)	PKP2 (A740V +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2962707	NM_001005242.3(PKP2):c.1854G>A (p.Val618=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2957273	NM_001005242.3(PKP2):c.2151T>G (p.Ser717=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2956382	NM_001005242.3(PKP2):c.2471T>G (p.Val824Gly)	PKP2 (S761A +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2920421	NM_001005242.3(PKP2):c.946A>C (p.Arg316=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2920013	NM_001005242.3(PKP2):c.336+16A>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2918253	NM_001005242.3(PKP2):c.1379-1989C>T	PKP2 (P500S)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2917411	NM_001005242.3(PKP2):c.1034+19C>T	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2912116	NM_001005242.3(PKP2):c.1379-2107C>T	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2912057	NM_001005242.3(PKP2):c.223+13C>T	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2911833	NM_001005242.3(PKP2):c.53G>A (p.Gly18Asp)	PKP2 (G18D)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2910980	NM_001005242.3(PKP2):c.1171-20T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2907562	NM_001005242.3(PKP2):c.2168-16T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2906686	NM_001005242.3(PKP2):c.2462C>T (p.Thr821Ile)	PKP2 (T766I +5 more)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2903032	NM_001005242.3(PKP2):c.274T>C (p.Leu92=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign
Select item 2901672	NM_001005242.3(PKP2):c.453T>C (p.Ser151=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2900632	NM_001005242.3(PKP2):c.827C>T (p.Pro276Leu)	PKP2 (P167L +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2897228	NM_001005242.3(PKP2):c.1840-19T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2895614	NM_001005242.3(PKP2):c.735G>A (p.Arg245=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2894931	NM_001005242.3(PKP2):c.2221A>G (p.Thr741Ala)	PKP2 (T632A +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 2894797	NM_001005242.3(PKP2):c.223+13C>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2890916	NM_001005242.3(PKP2):c.2307T>C (p.Leu769=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign
Select item 2888670	NM_001005242.3(PKP2):c.2446-17G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2886299	NM_001005242.3(PKP2):c.1034+13C>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2884887	NM_001005242.3(PKP2):c.2273T>C (p.Ile758Thr)	PKP2 (I758T +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2878784	NM_001005242.3(PKP2):c.1756A>G (p.Ile586Val)	PKP2 (I586V +2 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2877976	NM_001005242.3(PKP2):c.2013+8T>C	PKP2 (I718T +2 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2875287	NM_001005242.3(PKP2):c.348T>A (p.Thr116=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GLikely benign
Select item 2873219	NM_001005242.3(PKP2):c.1224T>C (p.Asn408=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2869055	NM_001005242.3(PKP2):c.525G>T (p.Gly175=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2862991	NM_001005242.3(PKP2):c.1059G>A (p.Leu353=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2862264	NM_001005242.3(PKP2):c.2087T>A (p.Val696Asp)	PKP2 (V641D +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2862214	NM_001005242.3(PKP2):c.2166T>C (p.Ile722=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2861139	NM_001005242.3(PKP2):c.218G>C (p.Gly73Ala)	PKP2 (G73A)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2858779	NM_001005242.3(PKP2):c.1675-10G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2856096	NM_001005242.3(PKP2):c.919A>G (p.Ser307Gly)	PKP2 (S198G +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2848788	NM_001005242.3(PKP2):c.2357+13G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2845003	NM_001005242.3(PKP2):c.2374G>A (p.Ala792Thr)	PKP2 (A792T +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2843468	NM_001005242.3(PKP2):c.1883del (p.Lys628fs)	PKP2 (K519fs +3 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 2841805	NM_001005242.3(PKP2):c.1732C>T (p.Leu578Phe)	PKP2 (L622F +2 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2840900	NM_001005242.3(PKP2):c.654_679dup (p.Ser227fs)	PKP2 (S227fs +1 more)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 2839118	NM_001005242.3(PKP2):c.2404del (p.Ser802fs)	PKP2 (L630fs +5 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 2838996	NM_001005242.3(PKP2):c.336+7del	PKP2	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2837794	NM_001005242.3(PKP2):c.1716C>G (p.Tyr572Ter)	PKP2 (Y572* +2 more)	Single nucleotide variant (nonsense +1 more)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 2833786	NM_001005242.3(PKP2):c.923_1034+262del	PKP2	Deletion (splice donor variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 2833539	NM_001005242.3(PKP2):c.2383G>A (p.Ala795Thr)	PKP2 (A839T +3 more)	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2829412	NM_001005242.3(PKP2):c.2319G>A (p.Gly773=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2828449	NM_001005242.3(PKP2):c.786G>T (p.Leu262=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 2828033	NM_001005242.3(PKP2):c.916_931del (p.Pro306fs)	PKP2 (P306fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 2825481	NM_001005242.3(PKP2):c.2340C>T (p.Ala780=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2824162	NM_001005242.3(PKP2):c.1338G>A (p.Leu446=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2823408	NM_001005242.3(PKP2):c.488A>G (p.His163Arg)	PKP2 (H54R +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2819858	NM_001005242.3(PKP2):c.1189A>T (p.Ile397Phe)	PKP2 (I288F +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2814766	NM_001005242.3(PKP2):c.2368A>G (p.Asn790Asp)	PKP2 (N790D +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2813094	NM_001005242.3(PKP2):c.2013+2T>C	PKP2 (V672A +2 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 2812305	NM_001005242.3(PKP2):c.1177C>A (p.Gln393Lys)	PKP2 (Q284K +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2811434	NM_001005242.3(PKP2):c.924C>A (p.Val308=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2804033	NM_001005242.3(PKP2):c.2511C>T (p.Asp837=)	PKP2 (T774I +1 more)	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2803282	NM_001005242.3(PKP2):c.875A>C (p.Gln292Pro)	PKP2 (Q292P +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 2800154	NM_001005242.3(PKP2):c.1139A>C (p.Glu380Ala)	PKP2 (E380A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2798972	NM_001005242.3(PKP2):c.1035-8_1035-5del	PKP2	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2797411	NM_001005242.3(PKP2):c.257A>G (p.Tyr86Cys)	PKP2 (Y86C)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2793291	NM_001005242.3(PKP2):c.1170+17G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2792965	NM_001005242.3(PKP2):c.1893G>A (p.Glu631=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2792714	NM_001005242.3(PKP2):c.1757del (p.Ile586fs)	PKP2 (I477fs +2 more)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 2792328	NM_001005242.3(PKP2):c.9C>T (p.Ala3=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2791746	NM_001005242.3(PKP2):c.1107G>A (p.Arg369=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2791226	NM_001005242.3(PKP2):c.2474A>C (p.Asn825Thr)	PKP2 (N869T +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2791023	NM_001005242.3(PKP2):c.1556+15A>T	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2788857	NM_001005242.3(PKP2):c.1379-2068C>A	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2782138	NM_001005242.3(PKP2):c.1379-2010A>T	PKP2 (R493W)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9 +1 more	GUncertain significance
Select item 2779371	NM_001005242.3(PKP2):c.1592C>T (p.Ala531Val)	PKP2 (A422V +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2778808	NM_001005242.3(PKP2):c.417G>A (p.Arg139=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2777237	NM_001005242.3(PKP2):c.2055T>C (p.Ser685=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2776470	NM_001005242.3(PKP2):c.2448T>C (p.Ala816=)	PKP2 (L753P +1 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely benign
Select item 2774104	NM_001005242.3(PKP2):c.912T>C (p.Ala304=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign

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