C1864826[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369568	NM_004415.3(DSP):c.-281C>T	DSP-AS1, DSP	Single nucleotide variant	Arrhythmogenic right ventricular cardiomyopathy +3 more	GLikely benign
Select item 357929	NM_004415.3(DSP):c.-260A>G	DSP, DSP-AS1	Single nucleotide variant	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357930	NM_004415.4(DSP):c.-228C>A	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Lethal acantholytic epidermolysis bullosa +3 more	GUncertain significance
Select item 357931	NM_004415.4(DSP):c.-190G>T	DSP-AS1, DSP	Single nucleotide variant (5 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +3 more	GUncertain significance
Select item 357932	NM_004415.4(DSP):c.-179T>C	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 357933	NM_004415.4(DSP):c.-157G>A	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Lethal acantholytic epidermolysis bullosa +5 more	GUncertain significance
Select item 909575	NM_004415.4(DSP):c.-104G>A	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GUncertain significance
Select item 909576	NM_004415.4(DSP):c.-76C>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GUncertain significance
Select item 910508	NM_004415.4(DSP):c.-70C>T	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GUncertain significance
Select item 357934	NM_004415.4(DSP):c.-36C>A	DSP, DSP-AS1	Single nucleotide variant (5 prime UTR variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +3 more	GUncertain significance
Select item 36015	NM_004415.4(DSP):c.1dup (p.Met1fs)	DSP, DSP-AS1 (M1fs)	Duplication	Lethal acantholytic epidermolysis bullosa +7 more	GConflicting classifications of pathogenicity
Select item 357935	NM_004415.4(DSP):c.9C>T (p.Cys3=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GConflicting classifications of pathogenicity
Select item 44858	NM_004415.4(DSP):c.12C>G (p.Asn4Lys)	DSP, DSP-AS1 (N4K)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 357936	NM_004415.4(DSP):c.36C>T (p.Asn12=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GConflicting classifications of pathogenicity
Select item 16846	NM_004415.4(DSP):c.88G>A (p.Val30Met)	DSP, DSP-AS1 (V30M)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 36016	NM_004415.4(DSP):c.105G>A (p.Gly35=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +8 more	GBenign/Likely benign
Select item 44855	NM_004415.4(DSP):c.126T>C (p.Tyr42=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign
Select item 44875	NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)	DSP (C81Y)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 163235	NM_004415.4(DSP):c.264C>T (p.Ile88=)	DSP	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 163236	NM_004415.4(DSP):c.269A>G (p.Gln90Arg)	DSP (Q90R)	Single nucleotide variant (missense variant)	DSP-related condition +8 more	GConflicting classifications of pathogenicity
Select item 163237	NM_004415.4(DSP):c.273+5G>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +10 more	GConflicting classifications of pathogenicity
Select item 44879	NM_004415.4(DSP):c.273+10C>T	DSP	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 910568	NM_004415.4(DSP):c.314G>A (p.Arg105Gln)	DSP (R105Q)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 911798	NM_004415.4(DSP):c.718G>C (p.Ala240Pro)	DSP (A240P)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +2 more	GUncertain significance
Select item 357937	NM_004415.4(DSP):c.727-11T>C	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GConflicting classifications of pathogenicity
Select item 44980	NM_004415.4(DSP):c.889G>A (p.Asp297Asn)	DSP (D297N)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 357938	NM_004415.4(DSP):c.913A>G (p.Ile305Val)	DSP (I305V)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 36026	NM_004415.4(DSP):c.913A>T (p.Ile305Phe)	DSP (I305F)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GBenign/Likely benign
Select item 228653	NM_004415.4(DSP):c.939C>T (p.Ser313=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 44982	NM_004415.4(DSP):c.943C>T (p.Arg315Cys)	DSP (R315C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 357939	NM_004415.4(DSP):c.1149A>G (p.Glu383=)	DSP	Single nucleotide variant (synonymous variant)	DSP-related condition +5 more	GConflicting classifications of pathogenicity
Select item 246658	NM_004415.4(DSP):c.1154C>T (p.Ala385Val)	DSP (A385V)	Single nucleotide variant (missense variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +8 more	GLikely benign
Select item 137168	NM_004415.4(DSP):c.1206G>A (p.Lys402=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 199836	NM_004415.4(DSP):c.1344G>A (p.Leu448=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 199861	NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)	DSP (R490C)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 357940	NM_004415.4(DSP):c.1469G>A (p.Arg490His)	DSP (R490H)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 44860	NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)	DSP (Y494F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GBenign/Likely benign
Select item 228635	NM_004415.4(DSP):c.1483G>A (p.Val495Met)	DSP (V495M)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +8 more	GConflicting classifications of pathogenicity
Select item 44861	NM_004415.4(DSP):c.1488G>A (p.Thr496=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GBenign/Likely benign
Select item 405222	NM_004415.4(DSP):c.1562A>C (p.Asp521Ala)	DSP (D521A)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 44863	NM_004415.4(DSP):c.1574+14G>T	DSP	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 516260	NM_004415.4(DSP):c.1575-15C>G	DSP	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 161226	NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	DSP (A566T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +11 more	GConflicting classifications of pathogenicity
Select item 178026	NM_004415.4(DSP):c.1743C>T (p.Ala581=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 44867	NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)	DSP (N593S)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 357941	NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)	DSP (D614N)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +7 more	GConflicting classifications of pathogenicity
Select item 911906	NM_004415.4(DSP):c.1848G>A (p.Gln616=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GConflicting classifications of pathogenicity
Select item 908965	NM_004415.4(DSP):c.1903+4G>A	DSP	Single nucleotide variant (intron variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 36019	NM_004415.4(DSP):c.1903+7T>C	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +6 more	GBenign
Select item 534311	NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)	DSP (L691F)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 909839	NM_004415.4(DSP):c.2131-5G>C	DSP	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 910737	NM_004415.4(DSP):c.2246T>C (p.Leu749Pro)	DSP (L749P)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +5 more	GUncertain significance
Select item 357942	NM_004415.4(DSP):c.2247A>G (p.Leu749=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 910738	NM_004415.4(DSP):c.2259G>A (p.Leu753=)	DSP	Single nucleotide variant (synonymous variant)	Woolly hair-skin fragility syndrome +3 more	GConflicting classifications of pathogenicity
Select item 44873	NM_004415.4(DSP):c.2346C>T (p.Asp782=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 534302	NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys)	DSP (Y787C)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 357943	NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)	DSP (E793K)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 357944	NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)	DSP (D802N)	Single nucleotide variant (missense variant)	not specified +7 more	GUncertain significance
Select item 44874	NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)	DSP (R808C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 909027	NM_004415.4(DSP):c.2582C>T (p.Thr861Ile)	DSP (T861I)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 44876	NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)	DSP (R866C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 44877	NM_004415.4(DSP):c.2631G>A (p.Arg877=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis +9 more	GBenign
Select item 44878	NM_004415.4(DSP):c.2673T>C (p.Tyr891=)	DSP	Single nucleotide variant (synonymous variant)	Epidermolysis bullosa simplex due to plakophilin deficiency +8 more	GBenign/Likely benign
Select item 909887	NM_004415.4(DSP):c.2719C>A (p.Arg907Ser)	DSP (R907S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GUncertain significance
Select item 357945	NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)	DSP (R907C)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 177781	NM_004415.4(DSP):c.2723G>A (p.Arg908His)	DSP (R908H)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 199874	NM_004415.4(DSP):c.2765C>T (p.Thr922Ile)	DSP (T922I)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 44881	NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)	DSP (R925W)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 199875	NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)	DSP (R925Q)	Single nucleotide variant (missense variant)	Familial restrictive cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 36020	NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)	DSP (G939S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +8 more	GBenign/Likely benign
Select item 44886	NM_004415.4(DSP):c.2862C>T (p.Cys954=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GBenign
Select item 357946	NM_004415.4(DSP):c.2878-4G>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GConflicting classifications of pathogenicity
Select item 581025	NM_004415.4(DSP):c.2966C>T (p.Ser989Phe)	DSP (S989F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GUncertain significance
Select item 518651	NM_004415.4(DSP):c.3102C>T (p.Ile1034=)	DSP	Single nucleotide variant (synonymous variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 44890	NM_004415.4(DSP):c.3123C>T (p.Leu1041=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 357947	NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)	DSP (S1049L)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 357948	NM_004415.4(DSP):c.3147G>A (p.Ser1049=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 227342	NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)	DSP	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 465892	NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln)	DSP (R1113Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 357949	NM_004415.4(DSP):c.3389A>G (p.Asp1130Gly)	DSP (D1130G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GUncertain significance
Select item 908051	NM_004415.4(DSP):c.3423A>C (p.Gln1141His)	DSP (Q1141H)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +4 more	GUncertain significance
Select item 179013	NM_004415.4(DSP):c.3507C>T (p.Tyr1169=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 44893	NM_004415.4(DSP):c.3510G>A (p.Glu1170=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GBenign/Likely benign
Select item 188465	NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)	DSP (Y1188H)	Single nucleotide variant (missense variant)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 357950	NM_004415.4(DSP):c.3601G>A (p.Glu1201Lys)	DSP (E1201K)	Single nucleotide variant (missense variant +1 more)	Lethal acantholytic epidermolysis bullosa +3 more	GConflicting classifications of pathogenicity
Select item 163266	NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)	DSP (T1217M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 580092	NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser)	DSP (N1257S)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 178030	NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)	DSP (K1288Q)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +8 more	GConflicting classifications of pathogenicity
Select item 691716	NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)	DSP (R1302C)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 178028	NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)	DSP (R1308Q)	Single nucleotide variant (missense variant +1 more)	Epidermolysis bullosa simplex due to plakophilin deficiency +10 more	GBenign/Likely benign
Select item 44897	NM_004415.4(DSP):c.3963G>A (p.Gln1321=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 44899	NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 357951	NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp)	DSP (E1357D)	Single nucleotide variant (missense variant +1 more)	Lethal acantholytic epidermolysis bullosa +6 more	GUncertain significance
Select item 566122	NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)	DSP (T1373A)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +8 more	GConflicting classifications of pathogenicity
Select item 44900	NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser)	DSP (T1381S)	Single nucleotide variant (missense variant +1 more)	not specified +7 more	GBenign/Likely benign
Select item 44906	NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)	DSP (R1458G)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 357952	NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln)	DSP (R1458Q)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 44907	NM_004415.4(DSP):c.4383G>A (p.Glu1461=)	DSP	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GBenign/Likely benign
Select item 44908	NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser)	DSP (R1485S)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +9 more	GBenign/Likely benign
Select item 228641	NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)	DSP (E1493A)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GConflicting classifications of pathogenicity

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