"Color Diagnostics, LLC DBA Color Health"[submitter] AND "DSC2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 918432	NM_024422.6(DSC2):c.*3G>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 2775166	NM_024422.6(DSC2):c.2705G>A (p.Ter902=)	DSC2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy	GLikely benign
Select item 919658	NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 925175	NM_024422.6(DSC2):c.2694C>A (p.Cys898Ter)	DSC2 (C898*)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 1332455	NM_024422.6(DSC2):c.2692T>C (p.Cys898Arg)	DSC2 (C898R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +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)	Arrhythmogenic right ventricular dysplasia 11 +6 more	GBenign/Likely benign
Select item 926923	NM_024422.6(DSC2):c.2684C>G (p.Ala895Gly)	DSC2 (A895G)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 1171567	NM_024422.6(DSC2):c.2669A>G (p.Lys890Arg)	DSC2 (K890R)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 1332545	NM_024422.6(DSC2):c.2646A>G (p.Glu882=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +1 more	GLikely benign
Select item 927699	NM_024422.6(DSC2):c.2644G>A (p.Glu882Lys)	DSC2 (E882K)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +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)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GUncertain significance
Select item 1332645	NM_024422.6(DSC2):c.2628AGA[2] (p.Glu878del)	DSC2 (E878del)	Microsatellite (3 prime UTR variant +1 more)	Cardiomyopathy	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)	Arrhythmogenic right ventricular dysplasia 11 +5 more	GBenign/Likely benign
Select item 2775167	NM_024422.6(DSC2):c.2631A>G (p.Glu877=)	DSC2	Single nucleotide variant (synonymous variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +1 more	GLikely benign
Select item 2775168	NM_024422.6(DSC2):c.2627A>G (p.Gln876Arg)	DSC2 (Q876R +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	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)	Cardiomyopathy +4 more	GUncertain significance
Select item 1962410	NM_024422.6(DSC2):c.2625A>G (p.Arg875=)	DSC2	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GLikely benign
Select item 633190	NM_024422.6(DSC2):c.2624G>A (p.Arg875Gln)	DSC2 (R875Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +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 specified +5 more	GUncertain significance
Select item 926640	NM_024422.6(DSC2):c.2621A>G (p.Glu874Gly)	DSC2 (E874G)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 1332446	NM_024422.6(DSC2):c.2620G>A (p.Glu874Lys)	DSC2 (E874K)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 46184	NM_024422.6(DSC2):c.2616C>T (p.Cys872=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GBenign/Likely benign
Select item 923184	NM_024422.6(DSC2):c.2610T>C (p.Gly870=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GLikely benign
Select item 918734	NM_024422.6(DSC2):c.2608G>T (p.Gly870Cys)	DSC2 (G870C)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 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)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 924245	NM_024422.6(DSC2):c.2597C>T (p.Ala866Val)	DSC2 (A866V)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 921447	NM_024422.6(DSC2):c.2597C>G (p.Ala866Gly)	DSC2 (A866G)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 919775	NM_024422.6(DSC2):c.2595G>A (p.Val865=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GLikely benign
Select item 2775169	NM_024422.6(DSC2):c.2593G>A (p.Val865Met)	DSC2 (V722M +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 536272	NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu)	DSC2 (S864L)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +3 more	GUncertain significance
Select item 918246	NM_024422.6(DSC2):c.2589A>G (p.Gly863=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy	GLikely benign
Select item 924672	NM_024422.6(DSC2):c.2583_2587dup (p.Gly863fs)	DSC2 (G863fs)	Duplication (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	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)	not specified +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)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GUncertain significance
Select item 918556	NM_024422.6(DSC2):c.2577T>A (p.Tyr859Ter)	DSC2 (Y859*)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy	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 922827	NM_024422.6(DSC2):c.2574C>T (p.Asn858=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy	GLikely benign
Select item 3893839	NM_024422.6(DSC2):c.2573A>G (p.Asn858Ser)	DSC2 (N715S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 921658	NM_024422.6(DSC2):c.2571T>C (p.Tyr857=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GLikely benign
Select item 923961	NM_024422.6(DSC2):c.2570A>G (p.Tyr857Cys)	DSC2 (Y857C)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 920716	NM_024422.6(DSC2):c.2569T>C (p.Tyr857His)	DSC2 (Y857H)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 919524	NM_024422.6(DSC2):c.2568A>G (p.Thr856=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +3 more	GLikely benign
Select item 3894092	NM_024422.6(DSC2):c.2556C>G (p.Asp852Glu)	DSC2 (D709E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 921942	NM_024422.6(DSC2):c.2553del (p.Asp852fs)	DSC2 (D852fs)	Deletion (3 prime UTR variant +1 more)	Cardiomyopathy	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)	Cardiovascular phenotype +3 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 +3 more	GLikely benign
Select item 1332086	NM_024422.6(DSC2):c.2532T>C (p.Asp844=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy	GLikely benign
Select item 1171576	NM_024422.6(DSC2):c.2530G>C (p.Asp844His)	DSC2 (D844H)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 921012	NM_024422.6(DSC2):c.2518C>T (p.Leu840=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy	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)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GUncertain significance
Select item 2775170	NM_024422.6(DSC2):c.2509-11C>T	DSC2	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 628646	NM_024422.6(DSC2):c.2509-95C>T	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy	GLikely benign
Select item 923294	NM_024422.6(DSC2):c.2509-108A>T	DSC2 (I845F)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GLikely benign
Select item 918631	NM_024422.6(DSC2):c.2509-116A>G	DSC2 (H842R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 927470	NM_024422.6(DSC2):c.2509-120G>A	DSC2 (G841R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GLikely benign
Select item 46182	NM_024422.6(DSC2):c.2498G>A (p.Arg833His)	DSC2 (R833H)	Single nucleotide variant (missense variant)	not provided +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 536277	NM_024422.6(DSC2):c.2472G>A (p.Ser824=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 161223	NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)	DSC2 (S824L)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 2775171	NM_024422.6(DSC2):c.2467dup (p.Tyr823fs)	DSC2 (Y680fs +1 more)	Duplication (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 575762	NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter)	DSC2 (Y821*)	Single nucleotide variant (nonsense)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 3273785	NM_024422.6(DSC2):c.2460A>G (p.Arg820=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 919815	NM_024422.6(DSC2):c.2452A>G (p.Asn818Asp)	DSC2 (N818D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 3894091	NM_024422.6(DSC2):c.2450A>G (p.Asp817Gly)	DSC2 (D674G +1 more)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 751894	NM_024422.6(DSC2):c.2442G>C (p.Thr814=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 511117	NM_024422.6(DSC2):c.2442G>A (p.Thr814=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +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 919602	NM_024422.6(DSC2):c.2438A>C (p.His813Pro)	DSC2 (H813P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 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)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 326393	NM_024422.6(DSC2):c.2430G>A (p.Arg810=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GConflicting classifications of pathogenicity
Select item 925204	NM_024422.6(DSC2):c.2419G>C (p.Asp807His)	DSC2 (D807H)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 920917	NM_024422.6(DSC2):c.2403C>T (p.Gly801=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 574172	NM_024422.6(DSC2):c.2402G>A (p.Gly801Asp)	DSC2 (G801D)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 180113	NM_024422.6(DSC2):c.2398G>T (p.Ala800Ser)	DSC2 (A800S)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 925244	NM_024422.6(DSC2):c.2394G>A (p.Arg798=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 46179	NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu)	DSC2 (R798L)	Single nucleotide variant (missense variant)	not provided +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)	Familial isolated arrhythmogenic right ventricular dysplasia +5 more	GBenign
Select item 630584	NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp)	DSC2 (R798W)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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 920174	NM_024422.6(DSC2):c.2384A>T (p.Glu795Val)	DSC2 (E795V)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +1 more	GUncertain significance
Select item 2192094	NM_024422.6(DSC2):c.2383G>A (p.Glu795Lys)	DSC2 (E652K +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 920502	NM_024422.6(DSC2):c.2382G>A (p.Ser794=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +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 +4 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 921980	NM_024422.6(DSC2):c.2374C>T (p.Gln792Ter)	DSC2 (Q792*)	Single nucleotide variant (nonsense)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 923614	NM_024422.6(DSC2):c.2371C>A (p.His791Asn)	DSC2 (H791N)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 923278	NM_024422.6(DSC2):c.2370A>G (p.Gly790=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GLikely benign
Select item 180319	NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)	DSC2 (G790del)	Microsatellite (inframe_deletion)	Cardiomyopathy +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)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 923371	NM_024422.6(DSC2):c.2368G>A (p.Gly790Arg)	DSC2 (G790R)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GUncertain significance
Select item 576483	NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu)	DSC2 (G789E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 922883	NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr)	DSC2 (K788T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1424090	NM_024422.6(DSC2):c.2359G>A (p.Val787Met)	DSC2 (V787M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GConflicting classifications of pathogenicity
Select item 46177	NM_024422.6(DSC2):c.2357T>C (p.Met786Thr)	DSC2 (M786T)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GUncertain significance
Select item 998654	NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly)	DSC2 (E785G)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 263563	NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys)	DSC2 (E785K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 629699	NM_024422.6(DSC2):c.2352C>T (p.Ile784=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GLikely benign
Select item 519515	NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys)	DSC2 (E782K)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance

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