ClinVar for Gene (Select 5318) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361572	NM_001005242.3(PKP2):c.356A>T (p.Tyr119Phe)	PKP2 (Y10F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338805	NM_001005242.3(PKP2):c.2227C>T (p.Leu743Phe)	PKP2 (L634F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3338804	NM_001005242.3(PKP2):c.2289C>A (p.Tyr763Ter)	PKP2 (Y654* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3338738	NM_001005242.3(PKP2):c.2411G>A (p.Trp804Ter)	PKP2 (G632R +5 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3337476	NM_001005242.3(PKP2):c.46G>T (p.Val16Phe)	PKP2 (V16F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337475	NM_001005242.3(PKP2):c.2290C>T (p.Gln764Ter)	PKP2 (Q655* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 3307106	NM_001005242.3(PKP2):c.2015T>C (p.Met672Thr)	PKP2 (M563T +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3307105	NM_001005242.3(PKP2):c.349G>A (p.Ala117Thr)	PKP2 (A117T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3307104	NM_001005242.3(PKP2):c.523G>A (p.Gly175Arg)	PKP2 (G175R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3307103	NM_001005242.3(PKP2):c.1366A>G (p.Lys456Glu)	PKP2 (K347E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3307102	NM_001005242.3(PKP2):c.1746T>G (p.Tyr582Ter)	PKP2 (Y626* +2 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GPathogenic
Select item 3307101	NM_001005242.3(PKP2):c.1931C>T (p.Ser644Phe)	PKP2 (S644F +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3307100	NM_001005242.3(PKP2):c.1379-2024G>A	PKP2 (G488D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3307099	NM_001005242.3(PKP2):c.1561A>G (p.Met521Val)	PKP2 (M521V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3307098	NM_001005242.3(PKP2):c.648A>G (p.Thr216=)	PKP2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3307097	NM_001005242.3(PKP2):c.740G>A (p.Gly247Glu)	PKP2 (G247E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3307096	NM_001005242.3(PKP2):c.2336T>C (p.Met779Thr)	PKP2 (M724T +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3307095	NM_001005242.3(PKP2):c.1688G>A (p.Cys563Tyr)	PKP2 (C563Y +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3307094	NM_001005242.3(PKP2):c.1322G>C (p.Arg441Pro)	PKP2 (R332P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3256715	NM_004572.3:c.224_1034del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3244299	NC_000012.11:g.(?_32978391)_(32996200_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 3244298	NC_000012.11:g.(?_32978346)_(32996155_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 3244297	NC_000012.11:g.(?_33031462)_(33032597_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 3244296	NC_000012.11:g.(?_33031916)_(33033605_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3244295	NC_000012.11:g.(?_32954329)_(32955343_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 3244294	NC_000012.11:g.(?_32993942)_(33003927_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3244292	NC_000012.11:g.(?_33049423)_(33049665_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3244291	NC_000012.11:g.(?_32945358)_(33049665_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3236122	NM_001005242.3(PKP2):c.1840-6G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 3224328	NM_001005242.3(PKP2):c.982G>A (p.Gly328Arg)	PKP2 (G219R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224327	NM_001005242.3(PKP2):c.932A>T (p.Asp311Val)	PKP2 (D202V +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224326	NM_001005242.3(PKP2):c.916_918delinsACT (p.Pro306Thr)	PKP2 (P197T +1 more)	Indel (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 3224324	NM_001005242.3(PKP2):c.731C>G (p.Pro244Arg)	PKP2 (P135R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224323	NM_001005242.3(PKP2):c.410A>C (p.Glu137Ala)	PKP2 (E137A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224322	NM_001005242.3(PKP2):c.2467T>C (p.Phe823Leu)	PKP2 (F714L +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3224321	NM_001005242.3(PKP2):c.2021C>T (p.Thr674Ile)	PKP2 (T565I +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224320	NM_001005242.3(PKP2):c.1779C>G (p.Ile593Met)	PKP2 (I484M +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3224319	NM_001005242.3(PKP2):c.1615A>G (p.Ile539Val)	PKP2 (I430V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224317	NM_001005242.3(PKP2):c.1420C>G (p.Leu474Val)	PKP2 (L365V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224316	NM_001005242.3(PKP2):c.1402A>G (p.Asn468Asp)	PKP2 (N359D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224315	NM_001005242.3(PKP2):c.1035-4C>T	PKP2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 3224314	NM_001005242.3(PKP2):c.1033G>T (p.Gly345Trp)	PKP2 (G236W +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3224313	NM_001005242.3(PKP2):c.1000A>G (p.Thr334Ala)	PKP2 (T225A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3213997	NM_001005242.3(PKP2):c.562C>T (p.Leu188Phe)	PKP2 (L188F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3213995	NM_001005242.3(PKP2):c.1043A>C (p.Asp348Ala)	PKP2 (D239A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3076074	NM_001005242.3(PKP2):c.1378G>A (p.Gly460Ser)	PKP2 (D460N +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3076071	NM_001005242.3(PKP2):c.385C>T (p.Gln129Ter)	PKP2 (Q129* +1 more)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3076022	NM_001005242.3(PKP2):c.20del (p.Pro7fs)	PKP2 (P7fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3076017	NM_001005242.3(PKP2):c.971_972insCGCCT (p.Ala326fs)	PKP2 (A217fs +1 more)	Insertion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3076016	NM_001005242.3(PKP2):c.12del (p.Gly5fs)	PKP2 (G5fs)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3075933	NM_001005242.3(PKP2):c.1657del (p.Tyr553fs)	PKP2 (Y444fs +2 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 3075565	NM_001005242.3(PKP2):c.1576G>T (p.Ala526Ser)	PKP2 (A417S +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075465	NM_001005242.3(PKP2):c.880T>A (p.Ser294Thr)	PKP2 (S185T +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075462	NM_001005242.3(PKP2):c.1376C>T (p.Thr459Ile)	PKP2 (T350I +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075441	NM_001005242.3(PKP2):c.2197A>C (p.Ile733Leu)	PKP2 (I624L +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075407	NM_001005242.3(PKP2):c.1288A>G (p.Lys430Glu)	PKP2 (K321E +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075322	NM_001005242.3(PKP2):c.1072A>G (p.Ser358Gly)	PKP2 (S249G +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075269	NM_001005242.3(PKP2):c.2405C>G (p.Ser802Cys)	PKP2 (L630V +5 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075176	NM_001005242.3(PKP2):c.105G>A (p.Glu35=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3075172	NM_001005242.3(PKP2):c.337-6G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3075133	NM_001005242.3(PKP2):c.149C>G (p.Thr50Arg)	PKP2 (T50R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075063	NM_001005242.3(PKP2):c.2482A>T (p.Thr828Ser)	PKP2 (T719S +3 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075008	NM_001005242.3(PKP2):c.326A>C (p.Asp109Ala)	PKP2 (D109A)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074994	NM_001005242.3(PKP2):c.721C>A (p.Leu241Ile)	PKP2 (L132I +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074855	NM_001005242.3(PKP2):c.1642G>A (p.Gly548Arg)	PKP2 (G439R +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074826	NM_001005242.3(PKP2):c.1267G>T (p.Val423Leu)	PKP2 (V314L +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074764	NM_001005242.3(PKP2):c.1999G>C (p.Ala667Pro)	PKP2 (A558P +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074734	NM_001005242.3(PKP2):c.1961C>T (p.Thr654Ile)	PKP2 (T545I +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074732	NM_001005242.3(PKP2):c.1936A>G (p.Ile646Val)	PKP2 (I537V +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074729	NM_001005242.3(PKP2):c.37A>C (p.Ile13Leu)	PKP2 (I13L)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074712	NM_001005242.3(PKP2):c.315T>C (p.Pro105=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3074634	NM_001005242.3(PKP2):c.1498C>G (p.Pro500Ala)	PKP2 (P391A +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074575	NM_001005242.3(PKP2):c.286G>T (p.Asp96Tyr)	PKP2 (D96Y)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074496	NM_001005242.3(PKP2):c.1352A>T (p.Asp451Val)	PKP2 (D342V +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074467	NM_001005242.3(PKP2):c.1252G>A (p.Ala418Thr)	PKP2 (A309T +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074363	NM_001005242.3(PKP2):c.512G>A (p.Arg171Lys)	PKP2 (R171K +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074360	NM_001005242.3(PKP2):c.2105A>G (p.Lys702Arg)	PKP2 (K593R +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074341	NM_001005242.3(PKP2):c.1080C>G (p.Leu360=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3074212	NM_001005242.3(PKP2):c.1833A>G (p.Val611=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3074181	NM_001005242.3(PKP2):c.1547G>A (p.Gly516Glu)	PKP2 (G407E +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074179	NM_001005242.3(PKP2):c.1913T>C (p.Val638Ala)	PKP2 (V529A +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074055	NM_001005242.3(PKP2):c.424_426del (p.Arg142del)	PKP2 (R142del +1 more)	Deletion (inframe_deletion)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073859	NM_001005242.3(PKP2):c.89T>G (p.Leu30Arg)	PKP2 (L30R)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073789	NM_001005242.3(PKP2):c.1174A>T (p.Asn392Tyr)	PKP2 (N283Y +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073764	NM_001005242.3(PKP2):c.380C>G (p.Thr127Arg)	PKP2 (T127R +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073698	NM_001005242.3(PKP2):c.1403A>T (p.Asn468Ile)	PKP2 (N359I +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073672	NM_001005242.3(PKP2):c.1116T>G (p.Ala372=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3073646	NM_001005242.3(PKP2):c.2145T>C (p.Asn715=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3073603	NM_001005242.3(PKP2):c.1034+4A>G	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073564	NM_001005242.3(PKP2):c.1797A>T (p.Lys599Asn)	PKP2 (K490N +2 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073441	NM_001005242.3(PKP2):c.1106G>T (p.Arg369Met)	PKP2 (R260M +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073437	NM_001005242.3(PKP2):c.1848G>C (p.Gln616His)	PKP2 (Q507H +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073426	NM_001005242.3(PKP2):c.519G>T (p.Gln173His)	PKP2 (Q173H +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073361	NM_001005242.3(PKP2):c.1362del (p.Lys456fs)	PKP2 (K347fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 3073329	NM_001005242.3(PKP2):c.1379-2071G>C	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3073297	NM_001005242.3(PKP2):c.1375A>G (p.Thr459Ala)	PKP2 (T350A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073271	NM_001005242.3(PKP2):c.*1G>A	PKP2	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073266	NM_001005242.3(PKP2):c.144C>T (p.Gly48=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073265	NM_001005242.3(PKP2):c.143G>A (p.Gly48Asp)	PKP2 (G48D)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073228	NM_001005242.3(PKP2):c.172G>A (p.Glu58Lys)	PKP2 (E58K)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance

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