ClinVar for Gene (Select 5318) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3073206	NM_001005242.3(PKP2):c.686C>G (p.Thr229Ser)	PKP2 (T120S +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073150	NM_001005242.3(PKP2):c.2085T>C (p.His695=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3073119	NM_001005242.3(PKP2):c.607A>T (p.Ser203Cys)	PKP2 (S203C +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073116	NM_001005242.3(PKP2):c.13G>A (p.Gly5Ser)	PKP2 (G5S)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072985	NM_001005242.3(PKP2):c.1035-10G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3072962	NM_001005242.3(PKP2):c.447G>T (p.Glu149Asp)	PKP2 (E149D +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072905	NM_001005242.3(PKP2):c.1938C>T (p.Ile646=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072904	NM_001005242.3(PKP2):c.1379-2117T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3072720	NM_001005242.3(PKP2):c.1484C>T (p.Pro495Leu)	PKP2 (P386L +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072718	NM_001005242.3(PKP2):c.434T>G (p.Leu145Arg)	PKP2 (L145R +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072571	NM_001005242.3(PKP2):c.447G>C (p.Glu149Asp)	PKP2 (E149D +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072496	NM_001005242.3(PKP2):c.1674+5T>C	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072486	NM_001005242.3(PKP2):c.400A>C (p.Lys134Gln)	PKP2 (K134Q +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072448	NM_001005242.3(PKP2):c.729C>T (p.Tyr243=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3072266	NM_001005242.3(PKP2):c.223+3G>A	PKP2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 3072254	NM_001005242.3(PKP2):c.1164G>A (p.Arg388=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3072163	NM_001005242.3(PKP2):c.395C>T (p.Ser132Phe)	PKP2 (S132F +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072121	NM_001005242.3(PKP2):c.712C>G (p.Pro238Ala)	PKP2 (P129A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072110	NM_001005242.3(PKP2):c.222C>T (p.Asn74=)	PKP2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3072061	NM_001005242.3(PKP2):c.766T>C (p.Leu256=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3072053	NM_001005242.3(PKP2):c.1379-2106C>T	PKP2 (H461Y)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072047	NM_001005242.3(PKP2):c.1674G>A (p.Lys558=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3072033	NM_001005242.3(PKP2):c.1405G>A (p.Asp469Asn)	PKP2 (D360N +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3071996	NM_001005242.3(PKP2):c.890G>A (p.Ser297Asn)	PKP2 (S188N +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3071995	NM_001005242.3(PKP2):c.1703A>G (p.His568Arg)	PKP2 (H459R +2 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3071907	NM_001005242.3(PKP2):c.338C>G (p.Ala113Gly)	PKP2 (A113G +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3071894	NM_001005242.3(PKP2):c.2192T>C (p.Val731Ala)	PKP2 (V775A +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3071795	NM_001005242.3(PKP2):c.813C>A (p.Val271=)	PKP2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance

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