"PreventionGenetics, part of Exact Sciences"[submitter] AND "DSP"[gene - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 36015	NM_004415.4(DSP):c.1dup (p.Met1fs)	DSP, DSP-AS1 (M1fs)	Duplication	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 2632353	NM_004415.4(DSP):c.44_68del (p.Gly15fs)	DSP, DSP-AS1 (G15fs)	Deletion (frameshift variant)	DSP-related disorder	GLikely pathogenic
Select item 534320	NM_004415.4(DSP):c.78G>T (p.Leu26=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Woolly hair-skin fragility syndrome +9 more	GLikely benign
Select item 16846	NM_004415.4(DSP):c.88G>A (p.Val30Met)	DSP, DSP-AS1 (V30M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 925222	NM_004415.4(DSP):c.99C>T (p.Gly33=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GLikely benign
Select item 44855	NM_004415.4(DSP):c.126T>C (p.Tyr42=)	DSP-AS1, DSP	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 44864	NM_004415.4(DSP):c.157T>G (p.Ser53Ala)	DSP, DSP-AS1 (S53A)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 925417	NM_004415.4(DSP):c.174A>G (p.Gln58=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GConflicting classifications of pathogenicity
Select item 2632674	NM_004415.4(DSP):c.243del (p.Cys81_Leu82insTer)	DSP	Deletion (frameshift variant)	DSP-related disorder	GLikely pathogenic
Select item 163236	NM_004415.4(DSP):c.269A>G (p.Gln90Arg)	DSP (Q90R)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 44879	NM_004415.4(DSP):c.273+10C>T	DSP	Single nucleotide variant (intron variant)	Lethal acantholytic epidermolysis bullosa +5 more	GBenign/Likely benign
Select item 137167	NM_004415.4(DSP):c.274-31T>C	DSP	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1581728	NM_004415.4(DSP):c.422+14A>G	DSP	Single nucleotide variant (intron variant)	DSP-related disorder +2 more	GLikely benign
Select item 44902	NM_004415.4(DSP):c.423-16_423-15insC	DSP	Insertion (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GBenign/Likely benign
Select item 44945	NM_004415.4(DSP):c.688G>A (p.Asp230Asn)	DSP (D230N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +6 more	GConflicting classifications of pathogenicity
Select item 377807	NM_004415.4(DSP):c.729C>T (p.Arg243=)	DSP	Single nucleotide variant (synonymous variant)	DSP-related disorder +5 more	GLikely benign
Select item 2631476	NM_004415.4(DSP):c.747C>A (p.Tyr249Ter)	DSP (Y249*)	Single nucleotide variant (nonsense)	DSP-related disorder	GPathogenic
Select item 36026	NM_004415.4(DSP):c.913A>T (p.Ile305Phe)	DSP (I305F)	Single nucleotide variant (missense variant)	not specified +8 more	GBenign/Likely benign
Select item 259381	NM_004415.4(DSP):c.1141-44C>T	DSP	Single nucleotide variant (intron variant)	Keratosis palmoplantaris striata 2 +6 more	GBenign
Select item 357939	NM_004415.4(DSP):c.1149A>G (p.Glu383=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GConflicting classifications of pathogenicity
Select item 629813	NM_004415.4(DSP):c.1266+6G>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GConflicting classifications of pathogenicity
Select item 199836	NM_004415.4(DSP):c.1344G>A (p.Leu448=)	DSP	Single nucleotide variant (synonymous variant)	Woolly hair-skin fragility syndrome +8 more	GConflicting classifications of pathogenicity
Select item 2630258	NM_004415.4(DSP):c.1417C>A (p.Gln473Lys)	DSP (Q473K)	Single nucleotide variant (missense variant)	DSP-related disorder +1 more	GUncertain significance
Select item 44867	NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)	DSP (N593S)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GBenign/Likely benign
Select item 465884	NM_004415.4(DSP):c.1806T>C (p.Asp602=)	DSP	Single nucleotide variant (synonymous variant)	DSP-related disorder +4 more	GBenign/Likely benign
Select item 259382	NM_004415.4(DSP):c.1904-49T>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GBenign
Select item 179772	NM_004415.4(DSP):c.2130+1G>A	DSP	Single nucleotide variant (splice donor variant)	Cardiomyopathy +4 more	GLikely pathogenic
Select item 44871	NM_004415.4(DSP):c.2134G>A (p.Val712Met)	DSP (V712M)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +9 more	GConflicting classifications of pathogenicity
Select item 388489	NM_004415.4(DSP):c.2631-5C>T	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GConflicting classifications of pathogenicity
Select item 44877	NM_004415.4(DSP):c.2631G>A (p.Arg877=)	DSP	Single nucleotide variant (synonymous variant)	Lethal acantholytic epidermolysis bullosa +9 more	GBenign
Select item 413267	NM_004415.4(DSP):c.2722C>T (p.Arg908Cys)	DSP (R908C)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GLikely benign
Select item 177781	NM_004415.4(DSP):c.2723G>A (p.Arg908His)	DSP (R908H)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +8 more	GConflicting classifications of pathogenicity
Select item 44881	NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)	DSP (R925W)	Single nucleotide variant (missense variant)	Cardiomyopathy +12 more	GConflicting classifications of pathogenicity
Select item 3046371	NM_004415.4(DSP):c.2793+6A>G	DSP	Single nucleotide variant (intron variant)	DSP-related disorder	GLikely benign
Select item 3031722	NM_004415.4(DSP):c.2794-4A>G	DSP	Single nucleotide variant (intron variant)	DSP-related disorder	GLikely benign
Select item 44886	NM_004415.4(DSP):c.2862C>T (p.Cys954=)	DSP	Single nucleotide variant (synonymous variant)	Woolly hair-skin fragility syndrome +7 more	GBenign
Select item 137170	NM_004415.4(DSP):c.2986-6T>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GBenign/Likely benign
Select item 259383	NM_004415.4(DSP):c.3084+24T>G	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GBenign
Select item 259384	NM_004415.4(DSP):c.3084+28G>A	DSP	Single nucleotide variant (intron variant)	Keratosis palmoplantaris striata 2 +6 more	GBenign
Select item 514140	NM_004415.4(DSP):c.3096C>T (p.Thr1032=)	DSP	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
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 227341	NM_004415.4(DSP):c.3276G>C (p.Ser1092=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 192115	NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn)	DSP (K1099N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GLikely benign
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 44895	NM_004415.4(DSP):c.3696C>A (p.Ser1232=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 178028	NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)	DSP (R1308Q)	Single nucleotide variant (missense variant +1 more)	Lethal acantholytic epidermolysis bullosa +10 more	GBenign/Likely benign
Select item 513664	NM_004415.4(DSP):c.3954G>A (p.Lys1318=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GConflicting classifications of pathogenicity
Select item 44898	NM_004415.4(DSP):c.3981C>T (p.Ile1327=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GLikely benign
Select item 2632222	NM_004415.4(DSP):c.4045A>C (p.Ser1349Arg)	DSP (S1349R)	Single nucleotide variant (missense variant +1 more)	DSP-related disorder	GUncertain significance
Select item 44899	NM_004415.4(DSP):c.4065T>C (p.Tyr1355=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Woolly hair-skin fragility syndrome +8 more	GConflicting classifications of pathogenicity
Select item 2629253	NM_004415.4(DSP):c.4177G>A (p.Ala1393Thr)	DSP (A1393T)	Single nucleotide variant (missense variant +1 more)	DSP-related disorder	GUncertain significance
Select item 44906	NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)	DSP (R1458G)	Single nucleotide variant (missense variant +1 more)	Primary familial dilated cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 44910	NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp)	DSP (R1497W)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 44912	NM_004415.4(DSP):c.4515G>A (p.Ala1505=)	DSP	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GLikely benign
Select item 44915	NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)	DSP (Y1512C)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GBenign
Select item 405228	NM_004415.4(DSP):c.4565C>T (p.Thr1522Met)	DSP (T1522M)	Single nucleotide variant (missense variant +1 more)	DSP-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 44917	NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)	DSP (R1537C)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +12 more	GBenign/Likely benign
Select item 264550	NM_004415.4(DSP):c.4752G>A (p.Ala1584=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +9 more	GLikely benign
Select item 36021	NM_004415.4(DSP):c.4773G>A (p.Arg1591=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GBenign/Likely benign
Select item 180332	NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe)	DSP (S1658F)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GUncertain significance
Select item 178032	NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)	DSP (N1726K)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 712162	NM_004415.4(DSP):c.5202G>C (p.Leu1734=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GLikely benign
Select item 44925	NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln)	DSP (R1738Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GBenign
Select item 44926	NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)	DSP (E1740K)	Single nucleotide variant (missense variant +1 more)	Woolly hair-skin fragility syndrome +12 more	GConflicting classifications of pathogenicity
Select item 3030184	NM_004415.4(DSP):c.5476A>T (p.Lys1826Ter)	DSP (K1227* +2 more)	Single nucleotide variant (nonsense)	DSP-related disorder	GLikely pathogenic
Select item 44929	NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)	DSP (E1833V +2 more)	Single nucleotide variant (missense variant)	not specified +12 more	GBenign/Likely benign
Select item 178031	NM_004415.4(DSP):c.5523A>C (p.Ser1841=)	DSP	Single nucleotide variant (synonymous variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 163281	NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys)	DSP (R1852C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 357959	NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)	DSP (N1865Y +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GConflicting classifications of pathogenicity
Select item 2636860	NM_004415.4(DSP):c.5801G>A (p.Arg1934Gln)	DSP (R1335Q +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 393020	NM_004415.4(DSP):c.5804A>G (p.Tyr1935Cys)	DSP (Y1935C +2 more)	Single nucleotide variant (missense variant)	DSP-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 259385	NM_004415.4(DSP):c.5913G>T (p.Leu1971=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GLikely benign
Select item 413270	NM_004415.4(DSP):c.6207C>T (p.Val2069=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 44936	NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)	DSP (D2070N +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +9 more	GConflicting classifications of pathogenicity
Select item 377812	NM_004415.4(DSP):c.6381C>T (p.Ala2127=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 920235	NM_004415.4(DSP):c.6732C>T (p.Asp2244=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GLikely benign
Select item 3032714	NM_004415.4(DSP):c.6792C>A (p.Tyr2264Ter)	DSP (Y1665* +2 more)	Single nucleotide variant (nonsense)	DSP-related disorder	GLikely pathogenic
Select item 188472	NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser)	DSP (T2267S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GBenign/Likely benign
Select item 44947	NM_004415.4(DSP):c.7122C>T (p.Thr2374=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +9 more	GBenign
Select item 357964	NM_004415.4(DSP):c.7548G>A (p.Arg2516=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +10 more	GBenign/Likely benign
Select item 246673	NM_004415.4(DSP):c.7552G>A (p.Val2518Ile)	DSP (V2518I +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GConflicting classifications of pathogenicity
Select item 1394420	NM_004415.4(DSP):c.7648G>C (p.Gly2550Arg)	DSP (G1951R +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GConflicting classifications of pathogenicity
Select item 137172	NM_004415.4(DSP):c.7734C>T (p.Ser2578=)	DSP	Single nucleotide variant (synonymous variant)	Woolly hair-skin fragility syndrome +10 more	GBenign/Likely benign
Select item 1518550	NM_004415.4(DSP):c.7735G>C (p.Asp2579His)	DSP (D2579H +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GUncertain significance
Select item 921407	NM_004415.4(DSP):c.7751G>A (p.Ser2584Asn)	DSP (S2141N +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 163287	NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)	DSP (R2639Q +2 more)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +10 more	GConflicting classifications of pathogenicity
Select item 246675	NM_004415.4(DSP):c.8019C>T (p.Asp2673=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 44960	NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del)	DSP (K2706del +2 more)	Microsatellite (inframe_deletion)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GBenign/Likely benign
Select item 3043700	NM_004415.4(DSP):c.8154C>G (p.Leu2718=)	DSP	Single nucleotide variant (synonymous variant)	DSP-related disorder	GLikely benign
Select item 44961	NM_004415.4(DSP):c.8175C>A (p.Arg2725=)	DSP	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 413274	NM_004415.4(DSP):c.8199G>C (p.Thr2733=)	DSP	Single nucleotide variant (synonymous variant)	not provided +6 more	GLikely benign
Select item 653551	NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr)	DSP (I2797T +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GConflicting classifications of pathogenicity
Select item 44967	NM_004415.4(DSP):c.8472G>C (p.Gly2824=)	DSP	Single nucleotide variant (synonymous variant)	Lethal acantholytic epidermolysis bullosa +10 more	GConflicting classifications of pathogenicity
Select item 179202	NM_004415.3(DSP):c.8487_8498del12	DSP	Deletion	not specified +6 more	GLikely benign

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Items: 94