ClinVar for MedGen (Select 87618) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256533	NM_001943.5(DSG2):c.710T>A (p.Leu237Ter)	DSG2 (L237*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic
Select item 3236838	NM_000540.3(RYR1):c.[10097G>A;11798A>G4711A>G]	RYR1 (R3366H +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
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 3076036	NM_004415.4(DSP):c.3110dup (p.Leu1037fs)	DSP (L1037fs)	Duplication (frameshift variant)	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 3075877	NM_004415.4(DSP):c.3789_3805del (p.Thr1264fs)	DSP (T1264fs)	Deletion (frameshift variant +1 more)	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 3075479	NM_001943.5(DSG2):c.249C>T (p.Leu83=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
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 3075436	NM_001943.5(DSG2):c.820A>G (p.Asn274Asp)	DSG2 (N274D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075425	NM_001943.5(DSG2):c.-5del	DSG2, LOC130062340	Deletion (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075420	NM_001943.5(DSG2):c.1095G>A (p.Arg365=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
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 3075287	NM_001943.5(DSG2):c.3065T>C (p.Phe1022Ser)	DSG2, DSG2-AS1 (F1022S)	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 3075217	NM_001943.5(DSG2):c.1990C>G (p.Pro664Ala)	DSG2 (P664A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075213	NM_001943.5(DSG2):c.2477T>C (p.Leu826Ser)	DSG2, DSG2-AS1 (L826S)	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075199	NM_001943.5(DSG2):c.863dup (p.Glu289fs)	DSG2 (E289fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075198	NM_001943.5(DSG2):c.64A>G (p.Ser22Gly)	DSG2 (S22G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075192	NM_001943.5(DSG2):c.1657A>G (p.Ser553Gly)	DSG2 (S553G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075178	NM_001943.5(DSG2):c.3138G>A (p.Val1046=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
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 3075174	NM_001943.5(DSG2):c.1512_1513del (p.Gln504fs)	DSG2 (Q504fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075173	NM_001943.5(DSG2):c.1513A>T (p.Thr505Ser)	DSG2 (T505S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
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 3075167	NM_001943.5(DSG2):c.2799G>A (p.Val933=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous 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 3075035	NM_001943.5(DSG2):c.82-13dup	DSG2	Duplication (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3075027	NM_001943.5(DSG2):c.1879+1G>T	DSG2	Single nucleotide variant (splice donor variant)	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 3074984	NM_001943.5(DSG2):c.2505A>T (p.Thr835=)	DSG2, DSG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3074926	NM_001943.5(DSG2):c.2839C>T (p.Pro947Ser)	DSG2, DSG2-AS1 (P947S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074893	NM_001943.5(DSG2):c.2996C>G (p.Ser999Trp)	DSG2, DSG2-AS1 (S999W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074866	NM_001943.5(DSG2):c.2573C>T (p.Ala858Val)	DSG2, DSG2-AS1 (A858V)	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 3074704	NM_001943.5(DSG2):c.1212A>G (p.Ser404=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3074678	NM_001943.5(DSG2):c.410A>T (p.Asn137Ile)	DSG2 (N137I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074660	NM_001943.5(DSG2):c.2119G>A (p.Gly707Arg)	DSG2, DSG2-AS1 (G707R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074655	NM_001943.5(DSG2):c.617C>A (p.Ala206Asp)	DSG2 (A206D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074644	NM_001943.5(DSG2):c.2666C>A (p.Pro889Gln)	DSG2-AS1, DSG2 (P889Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
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 3074549	NM_001943.5(DSG2):c.1762C>T (p.Leu588Phe)	DSG2 (L588F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074524	NM_001943.5(DSG2):c.1948A>T (p.Thr650Ser)	DSG2 (T650S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3074507	NM_001943.5(DSG2):c.2101T>A (p.Ser701Thr)	DSG2, DSG2-AS1 (S701T)	Single nucleotide variant (missense variant)	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 3074361	NM_001943.5(DSG2):c.3006G>T (p.Leu1002=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
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 3074320	NM_001943.5(DSG2):c.1702A>C (p.Ile568Leu)	DSG2 (I568L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
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 3074205	NM_001943.5(DSG2):c.570T>C (p.Asn190=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3074188	NM_001943.5(DSG2):c.253dup (p.Ile85fs)	DSG2 (I85fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
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 3074080	NM_001943.5(DSG2):c.13C>T (p.Pro5Ser)	DSG2, LOC130062340 (P5S)	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 3074023	NM_001943.5(DSG2):c.3151_3152dup (p.Leu1051_Ala1052insTer)	DSG2, DSG2-AS1	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073889	NM_001943.5(DSG2):c.943G>C (p.Gly315Arg)	DSG2 (G315R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	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 3073846	NM_001943.5(DSG2):c.2981C>T (p.Pro994Leu)	DSG2, DSG2-AS1 (P994L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073806	NM_001943.5(DSG2):c.53T>G (p.Phe18Cys)	DSG2 (F18C)	Single nucleotide variant (missense variant)	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 3073750	NM_001943.5(DSG2):c.2851G>C (p.Val951Leu)	DSG2, DSG2-AS1 (V951L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073710	NM_001943.5(DSG2):c.2239A>C (p.Thr747Pro)	DSG2, DSG2-AS1 (T747P)	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 3073601	NM_001943.5(DSG2):c.188A>G (p.Asp63Gly)	DSG2 (D63G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073598	NM_001943.5(DSG2):c.1133A>G (p.Lys378Arg)	DSG2 (K378R)	Single nucleotide variant (missense 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 3073534	NM_001943.5(DSG2):c.1887A>G (p.Pro629=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3073532	NM_001943.5(DSG2):c.1879+5G>C	DSG2	Single nucleotide variant (intron variant)	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 3073425	NM_001943.5(DSG2):c.2248G>A (p.Ala750Thr)	DSG2, DSG2-AS1 (A750T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073406	NM_001943.5(DSG2):c.1019T>G (p.Val340Gly)	DSG2 (V340G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073395	NM_001943.5(DSG2):c.1494A>G (p.Thr498=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3073364	NM_001943.5(DSG2):c.2751G>C (p.Ala917=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 3073361	NM_001005242.3(PKP2):c.1362del (p.Lys456fs)	PKP2 (K347fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GPathogenic

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