"GeneDx"[submitter] AND "DSC2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60207	GRCh38/hg38 18q12.1(chr18:29444510-31247986)x3	DSC1, DSC2 +9 more	Copy number gain	See cases	GUncertain significance
Select item 58324	GRCh38/hg38 18q12.1(chr18:31016495-31171928)x1	DSC1, DSC2 +2 more	Copy number loss	See cases	GUncertain significance
Select item 326390	NM_024422.6(DSC2):c.*137A>G	DSC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 326392	NM_024422.6(DSC2):c.*46A>T	DSC2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 919658	NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +2 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 1256763	NM_024422.6(DSC2):c.2685dup (p.Glu896fs)	DSC2 (E896fs)	Duplication (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1261032	NM_024422.6(DSC2):c.2684_2685insG (p.Glu896fs)	DSC2 (E896fs)	Insertion (3 prime UTR variant +1 more)	not provided	GBenign
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 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 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 46184	NM_024422.6(DSC2):c.2616C>T (p.Cys872=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +4 more	GBenign/Likely benign
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 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 1310522	NM_024422.6(DSC2):c.2549C>G (p.Ala850Gly)	DSC2 (A850G)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 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 383528	NM_024422.6(DSC2):c.2509-16T>C	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GLikely benign
Select item 673650	NM_024422.6(DSC2):c.2509-22G>A	DSC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 918631	NM_024422.6(DSC2):c.2509-116A>G	DSC2 (H842R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 388405	NM_024422.6(DSC2):c.2509-118A>G	DSC2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1196217	NM_024422.6(DSC2):c.2509-140_2509-139dup	DSC2	Duplication (intron variant)	not provided	GLikely benign
Select item 675743	NM_024422.6(DSC2):c.2509-245A>G	DSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679432	NM_024422.6(DSC2):c.2508+309C>T	DSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 679455	NM_024422.6(DSC2):c.2508+305G>T	DSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198667	NM_024422.6(DSC2):c.2508+207A>T	DSC2	Single nucleotide variant (intron variant)	not provided	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 199779	NM_024422.6(DSC2):c.2487del (p.Phe829fs)	DSC2 (F829fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 46180	NM_024422.6(DSC2):c.2398del (p.Ala800fs)	DSC2 (A800fs)	Deletion (frameshift variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 199774	NM_024422.6(DSC2):c.2396G>A (p.Gly799Glu)	DSC2 (G799E)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GUncertain significance
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 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 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 432627	NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu)	DSC2 (G790E)	Single nucleotide variant (missense variant)	not provided +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 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 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 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 2499179	NM_024422.6(DSC2):c.2251-74_2279del	DSC2	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
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 163181	NM_024422.6(DSC2):c.2263G>A (p.Gly755Ser)	DSC2 (G755S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 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 389631	NM_024422.6(DSC2):c.2251-13G>A	DSC2	Single nucleotide variant (intron variant)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GLikely benign
Select item 382352	NM_024422.6(DSC2):c.2251-20G>A	DSC2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 261707	NM_024422.6(DSC2):c.2251-49T>C	DSC2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1287908	NM_024422.6(DSC2):c.2251-98T>C	DSC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 889792	NM_024422.6(DSC2):c.2250+12G>T	DSC2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 468378	NM_024422.6(DSC2):c.2250+3A>G	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GConflicting classifications of pathogenicity
Select item 419220	NM_024422.6(DSC2):c.2250+2T>C	DSC2	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 380732	NM_024422.6(DSC2):c.2163G>A (p.Thr721=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 377803	NM_024422.6(DSC2):c.2157T>C (p.Ser719=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GLikely benign
Select item 510846	NM_024422.6(DSC2):c.2151G>C (p.Gly717=)	DSC2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 178017	NM_024422.6(DSC2):c.2139G>A (p.Thr713=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +5 more	GConflicting classifications of pathogenicity
Select item 429956	NM_024422.6(DSC2):c.2138C>T (p.Thr713Met)	DSC2 (T713M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1235628	NM_024422.6(DSC2):c.2126-20A>T	DSC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 679454	NM_024422.6(DSC2):c.2126-239G>T	DSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675742	NM_024422.6(DSC2):c.2125+190G>A	DSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194068	NM_024422.6(DSC2):c.2125+189C>T	DSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 199778	NM_024422.6(DSC2):c.2125+1del	DSC2	Deletion (splice donor variant)	Dilated cardiomyopathy 1A +2 more	GLikely pathogenic
Select item 519402	NM_024422.6(DSC2):c.2104T>C (p.Leu702=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 418603	NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser)	DSC2 (R680S)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 629564	NM_024422.6(DSC2):c.2035C>T (p.His679Tyr)	DSC2 (H679Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 199757	NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile)	DSC2 (T678I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 226617	NM_024422.6(DSC2):c.2019C>T (p.Thr673=)	DSC2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 416264	NM_024422.6(DSC2):c.1981G>A (p.Val661Ile)	DSC2 (V661I)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GLikely benign
Select item 46175	NM_024422.6(DSC2):c.1971C>A (p.Gly657=)	DSC2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 385101	NM_024422.6(DSC2):c.1938T>C (p.Tyr646=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GLikely benign
Select item 46174	NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter)	DSC2 (Y646*)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 80797	NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn)	DSC2 (D640N)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 46173	NM_024422.6(DSC2):c.1914G>C (p.Gln638His)	DSC2 (Q638H)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 46172	NM_024422.6(DSC2):c.1901G>A (p.Arg634His)	DSC2 (R634H)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1191361	NM_024422.6(DSC2):c.1889-29T>C	DSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671451	NM_024422.6(DSC2):c.1889-36T>C	DSC2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275962	NM_024422.6(DSC2):c.1889-291T>C	DSC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200136	NM_024422.6(DSC2):c.1888+268_1888+274del	DSC2	Deletion (intron variant)	not provided	GLikely benign
Select item 1218518	NM_024422.6(DSC2):c.1888+256_1888+262del	DSC2	Deletion (intron variant)	not provided	GLikely benign
Select item 1270941	NM_024422.6(DSC2):c.1888+216CA[21]	DSC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1267678	NM_024422.6(DSC2):c.1888+216CA[19]	DSC2	Microsatellite (intron variant)	not provided	GBenign
Select item 1264791	NM_024422.6(DSC2):c.1888+216CA[22]	DSC2	Microsatellite (intron variant)	not provided	GBenign

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