"Ambry Genetics"[submitter] AND "DSC2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2066513	NM_024422.6(DSC2):c.2695A>T (p.Met899Leu)	DSC2 (M756L +1 more)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GConflicting classifications of pathogenicity
Select item 1332455	NM_024422.6(DSC2):c.2692T>C (p.Cys898Arg)	DSC2 (C898R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 46186	NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)	DSC2 (A897fs)	Duplication (3 prime UTR variant +1 more)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 1423280	NM_024422.6(DSC2):c.2642T>A (p.Leu881His)	DSC2 (L881H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 1172326	NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg)	DSC2 (G880R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 199775	NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly)	DSC2 (D879G)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +5 more	GBenign/Likely benign
Select item 1038106	NM_024422.6(DSC2):c.2627A>T (p.Gln876Leu)	DSC2 (Q876L)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 179501	NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu)	DSC2 (Q876E)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GUncertain significance
Select item 633190	NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)	DSC2 (R875Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 179373	NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)	DSC2 (R875*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +5 more	GUncertain significance
Select item 427964	NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)	DSC2 (S868F)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 3227844	NM_024422.6(DSC2):c.2591C>G (p.Ser864Trp)	DSC2 (S721W +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1793451	NM_024422.6(DSC2):c.2588G>T (p.Gly863Val)	DSC2 (G863V +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 46183	NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)	DSC2 (G863R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 199787	NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs)	DSC2 (G863fs)	Microsatellite (3 prime UTR variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 199785	NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys)	DSC2 (Y859C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GUncertain significance
Select item 919524	NM_024422.6(DSC2):c.2568A>G (p.Thr856=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +3 more	GLikely benign
Select item 2151667	NM_024422.6(DSC2):c.2559T>C (p.Tyr853=)	DSC2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GLikely benign
Select item 1792903	NM_024422.6(DSC2):c.2548G>T (p.Ala850Ser)	DSC2 (A850S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 199786	NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs)	DSC2 (A850fs)	Indel (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 926569	NM_024422.6(DSC2):c.2546A>C (p.His849Pro)	DSC2 (H849P)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +2 more	GLikely benign
Select item 753312	NM_024422.6(DSC2):c.2541C>T (p.His847=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +2 more	GLikely benign
Select item 2882352	NM_024422.6(DSC2):c.2514G>A (p.Val838=)	DSC2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 971484	NM_024422.6(DSC2):c.2512G>A (p.Val838Met)	DSC2 (V838M)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2255694	NM_024422.6(DSC2):c.2508+1G>A	DSC2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GUncertain significance
Select item 699252	NM_024422.6(DSC2):c.2502T>C (p.Leu834=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 46182	NM_024422.6(DSC2):c.2498G>A (p.Arg833His)	DSC2 (R833H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 180318	NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)	DSC2 (R833C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1791867	NM_024422.6(DSC2):c.2478G>C (p.Trp826Cys)	DSC2 (W826C +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1460984	NM_024422.6(DSC2):c.2475G>C (p.Glu825Asp)	DSC2 (E825D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 536277	NM_024422.6(DSC2):c.2472G>A (p.Ser824=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GConflicting classifications of pathogenicity
Select item 161223	NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)	DSC2 (S824L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 3273785	NM_024422.6(DSC2):c.2460A>G (p.Arg820=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GUncertain significance
Select item 936571	NM_024422.6(DSC2):c.2456G>A (p.Cys819Tyr)	DSC2 (C819Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GUncertain significance
Select item 511117	NM_024422.6(DSC2):c.2442G>A (p.Thr814=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 926604	NM_024422.6(DSC2):c.2441C>T (p.Thr814Met)	DSC2 (T814M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1791325	NM_024422.6(DSC2):c.2440A>T (p.Thr814Ser)	DSC2 (T671S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 919602	NM_024422.6(DSC2):c.2438A>C (p.His813Pro)	DSC2 (H813P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 920514	NM_024422.6(DSC2):c.2436A>G (p.Gly812=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2565084	NM_024422.6(DSC2):c.2432del (p.Gly811fs)	DSC2 (G811fs +1 more)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 1791176	NM_024422.6(DSC2):c.2431G>T (p.Gly811Ter)	DSC2 (G668* +1 more)	Single nucleotide variant (nonsense)	Cardiovascular phenotype	GPathogenic
Select item 326393	NM_024422.6(DSC2):c.2430G>A (p.Arg810=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 2450333	NM_024422.6(DSC2):c.2426G>A (p.Cys809Tyr)	DSC2 (C809Y +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1790904	NM_024422.6(DSC2):c.2412C>T (p.His804=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1026971	NM_024422.6(DSC2):c.2408A>G (p.His803Arg)	DSC2 (H803R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 925244	NM_024422.6(DSC2):c.2394G>A (p.Arg798=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 46179	NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu)	DSC2 (R798L)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 36006	NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln)	DSC2 (R798Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +5 more	GBenign
Select item 630584	NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp)	DSC2 (R798W)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 928096	NM_024422.6(DSC2):c.2391C>T (p.Cys797=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 920502	NM_024422.6(DSC2):c.2382G>A (p.Ser794=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 373169	NM_024422.6(DSC2):c.2381C>T (p.Ser794Leu)	DSC2 (S794L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 536286	NM_024422.6(DSC2):c.2379C>A (p.Thr793=)	DSC2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1790345	NM_024422.6(DSC2):c.2375A>G (p.Gln792Arg)	DSC2 (Q649R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2196262	NM_024422.6(DSC2):c.2373C>T (p.His791=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GLikely benign
Select item 923278	NM_024422.6(DSC2):c.2370A>G (p.Gly790=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 180319	NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)	DSC2 (G790del)	Microsatellite (inframe_deletion)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 326394	NM_024422.6(DSC2):c.2367A>T (p.Gly789=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GConflicting classifications of pathogenicity
Select item 576483	NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu)	DSC2 (G789E)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 1424090	NM_024422.6(DSC2):c.2359G>A (p.Val787Met)	DSC2 (V787M)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 998654	NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly)	DSC2 (E785G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 263563	NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys)	DSC2 (E785K)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 519515	NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys)	DSC2 (E782K)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 1789909	NM_024422.6(DSC2):c.2343G>A (p.Gln781=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 191619	NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)	DSC2 (G779R)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 518278	NM_024422.6(DSC2):c.2328C>G (p.Ile776Met)	DSC2 (I776M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 46178	NM_024422.6(DSC2):c.2326A>G (p.Ile776Val)	DSC2 (I776V)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 199773	NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala)	DSC2 (G773A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 191620	NM_024422.6(DSC2):c.2314G>A (p.Val772Met)	DSC2 (V772M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GConflicting classifications of pathogenicity
Select item 628497	NM_024422.6(DSC2):c.2313C>T (p.Thr771=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 1789327	NM_024422.6(DSC2):c.2303T>C (p.Val768Ala)	DSC2 (V625A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 199772	NM_024422.6(DSC2):c.2298G>C (p.Gln766His)	DSC2 (Q766H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GConflicting classifications of pathogenicity
Select item 373271	NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr)	DSC2 (A763T)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 468379	NM_024422.6(DSC2):c.2286C>T (p.Gly762=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 2251478	NM_024422.6(DSC2):c.2285G>A (p.Gly762Asp)	DSC2 (G619D +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 962620	NM_024422.6(DSC2):c.2279C>G (p.Thr760Ser)	DSC2 (T760S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3227843	NM_024422.6(DSC2):c.2277A>G (p.Gln759=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1788858	NM_024422.6(DSC2):c.2276A>C (p.Gln759Pro)	DSC2 (Q616P +1 more)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GUncertain significance
Select item 536270	NM_024422.6(DSC2):c.2264G>T (p.Gly755Val)	DSC2 (G755V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GConflicting classifications of pathogenicity
Select item 382242	NM_024422.6(DSC2):c.2259G>A (p.Ala753=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 536263	NM_024422.6(DSC2):c.2258C>T (p.Ala753Val)	DSC2 (A753V)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +4 more	GUncertain significance
Select item 1788507	NM_024422.6(DSC2):c.2255C>T (p.Ser752Phe)	DSC2 (S752F +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 234986	NM_024422.6(DSC2):c.2251-5T>G	DSC2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 3273784	NM_024422.6(DSC2):c.2250+1G>T	DSC2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 199771	NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln)	DSC2 (K749Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GUncertain significance
Select item 264255	NM_024422.6(DSC2):c.2244C>T (p.Asp748=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 2274200	NM_024422.6(DSC2):c.2237G>A (p.Gly746Glu)	DSC2 (G603E +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3227842	NM_024422.6(DSC2):c.2233C>T (p.Pro745Ser)	DSC2 (P602S +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 925539	NM_024422.6(DSC2):c.2231C>T (p.Ala744Val)	DSC2 (A744V)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 468377	NM_024422.6(DSC2):c.2226A>G (p.Thr742=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 2068893	NM_024422.6(DSC2):c.2217A>G (p.Val739=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GLikely benign
Select item 178912	NM_024422.6(DSC2):c.2208C>T (p.Asn736=)	DSC2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 264369	NM_024422.6(DSC2):c.2202G>A (p.Gln734=)	DSC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 326396	NM_024422.6(DSC2):c.2198C>T (p.Ala733Val)	DSC2 (A733V)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GUncertain significance
Select item 36005	NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)	DSC2 (L732V)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 423386	NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)	DSC2 (D731N)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 662906	NM_024422.6(DSC2):c.2186del (p.Pro729fs)	DSC2 (P729fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 928244	NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr)	DSC2 (P729T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 757279	NM_024422.6(DSC2):c.2175A>C (p.Pro725=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GLikely benign
Select item 3227841	NM_024422.6(DSC2):c.2164T>C (p.Ser722Pro)	DSC2 (S579P +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance

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