"Clinical Genetics, Academic Medical Center"[submitter] AND "DSP"[gene - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	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 465915	NM_004415.4(DSP):c.81C>A (p.Arg27=)	DSP, DSP-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GLikely benign
Select item 534307	NM_004415.4(DSP):c.82T>G (p.Tyr28Asp)	DSP, DSP-AS1 (Y28D)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 16846	NM_004415.4(DSP):c.88G>A (p.Val30Met)	DSP, DSP-AS1 (V30M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +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)	not provided +8 more	GBenign/Likely 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 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 1284527	NM_004415.4(DSP):c.423-9dup	DSP	Duplication (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GBenign
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 199849	NM_004415.4(DSP):c.424C>T (p.Leu142Phe)	DSP (L142F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 163239	NM_004415.4(DSP):c.522T>C (p.Cys174=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +9 more	GBenign/Likely benign
Select item 388723	NM_004415.4(DSP):c.561C>T (p.Val187=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GLikely benign
Select item 44949	NM_004415.4(DSP):c.727-10T>G	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GConflicting classifications of pathogenicity
Select item 44952	NM_004415.4(DSP):c.741= (p.Ala247=)	DSP	Single nucleotide variant (no sequence alteration)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GBenign/Likely benign
Select item 44951	NM_004415.4(DSP):c.741G>A (p.Ala247=)	DSP	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 36026	NM_004415.4(DSP):c.913A>T (p.Ile305Phe)	DSP (I305F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +8 more	GBenign/Likely benign
Select item 228653	NM_004415.4(DSP):c.939C>T (p.Ser313=)	DSP	Single nucleotide variant (synonymous variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 178282	NM_004415.4(DSP):c.939+1G>A	DSP	Single nucleotide variant (splice donor variant)	Cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 380258	NM_004415.4(DSP):c.939+17C>T	DSP	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1284612	NM_004415.4(DSP):c.944G>A (p.Arg315His)	DSP (R315H)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
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 44854	NM_004415.4(DSP):c.1266+6G>T	DSP	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 199836	NM_004415.4(DSP):c.1344G>A (p.Leu448=)	DSP	Single nucleotide variant (synonymous variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 1284320	NM_004415.4(DSP):c.1419+18A>C	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 44860	NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe)	DSP (Y494F)	Single nucleotide variant (missense variant)	not specified +9 more	GBenign/Likely benign
Select item 44861	NM_004415.4(DSP):c.1488G>A (p.Thr496=)	DSP	Single nucleotide variant (synonymous variant)	Woolly hair-skin fragility syndrome +7 more	GBenign/Likely benign
Select item 228636	NM_004415.4(DSP):c.1517C>T (p.Pro506Leu)	DSP (P506L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 44863	NM_004415.4(DSP):c.1574+14G>T	DSP	Single nucleotide variant (intron variant)	Woolly hair-skin fragility syndrome +5 more	GConflicting classifications of pathogenicity
Select item 516260	NM_004415.4(DSP):c.1575-15C>G	DSP	Single nucleotide variant (intron variant)	Woolly hair-skin fragility syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1284661	NM_004415.4(DSP):c.1670_1671del (p.Ile557fs)	DSP (I557fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 534278	NM_004415.4(DSP):c.1671A>G (p.Ile557Met)	DSP (I557M)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GUncertain significance
Select item 161226	NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)	DSP (A566T)	Single nucleotide variant (missense variant)	not specified +11 more	GConflicting classifications of pathogenicity
Select item 36018	NM_004415.4(DSP):c.1702-18C>T	DSP	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 908965	NM_004415.4(DSP):c.1903+4G>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +6 more	GConflicting classifications of pathogenicity
Select item 36019	NM_004415.4(DSP):c.1903+7T>C	DSP	Single nucleotide variant (intron variant)	Cardiomyopathy +6 more	GBenign
Select item 178027	NM_004415.4(DSP):c.1920C>T (p.Ile640=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 44870	NM_004415.4(DSP):c.2091A>G (p.Gly697=)	DSP	Single nucleotide variant (synonymous variant)	Lethal acantholytic epidermolysis bullosa +9 more	GBenign
Select item 188462	NM_004415.4(DSP):c.2121C>T (p.Asn707=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GLikely benign
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 1284322	NM_004415.4(DSP):c.2297+2T>A	DSP	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 44873	NM_004415.4(DSP):c.2346C>T (p.Asp782=)	DSP	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 44876	NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)	DSP (R866C)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +9 more	GConflicting classifications of pathogenicity
Select item 137169	NM_004415.4(DSP):c.2630+18C>T	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GBenign/Likely benign
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 44878	NM_004415.4(DSP):c.2673T>C (p.Tyr891=)	DSP	Single nucleotide variant (synonymous variant)	not provided +8 more	GBenign/Likely benign
Select item 177781	NM_004415.4(DSP):c.2723G>A (p.Arg908His)	DSP (R908H)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +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)	not provided +8 more	GBenign/Likely 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 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)	Cardiovascular phenotype +9 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)	Lethal acantholytic epidermolysis bullosa +8 more	GConflicting classifications of pathogenicity
Select item 380731	NM_004415.4(DSP):c.3729A>G (p.Ser1243=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GLikely benign
Select item 178028	NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)	DSP (R1308Q)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +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)	not provided +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)	Woolly hair-skin fragility syndrome +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)	Woolly hair-skin fragility syndrome +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 44907	NM_004415.4(DSP):c.4383G>A (p.Glu1461=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Woolly hair-skin fragility syndrome +7 more	GBenign/Likely benign
Select item 44915	NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys)	DSP (Y1512C)	Single nucleotide variant (missense variant +1 more)	not provided +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 44919	NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys)	DSP (N1526K)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GBenign
Select item 1284428	NM_004415.4(DSP):c.4602A>G (p.Glu1534=)	DSP	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1174875	NM_004415.4(DSP):c.4608_4612del (p.Arg1537fs)	DSP (R1537fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 44917	NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys)	DSP (R1537C)	Single nucleotide variant (missense variant +1 more)	not provided +12 more	GBenign/Likely benign
Select item 357953	NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg)	DSP (Q1560R)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +7 more	GUncertain significance
Select item 534325	NM_004415.4(DSP):c.4749C>T (p.Thr1583=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +3 more	GLikely benign
Select item 36021	NM_004415.4(DSP):c.4773G>A (p.Arg1591=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Lethal acantholytic epidermolysis bullosa +7 more	GBenign/Likely benign
Select item 919855	NM_004415.4(DSP):c.5174G>A (p.Arg1725Gln)	DSP (R1725Q)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +2 more	GUncertain significance
Select item 178032	NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)	DSP (N1726K)	Single nucleotide variant (missense variant +1 more)	DSP-related disorder +9 more	GConflicting classifications of pathogenicity
Select item 44925	NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln)	DSP (R1738Q)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +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 357958	NM_004415.4(DSP):c.5316T>C (p.Asp1772=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +6 more	GConflicting classifications of pathogenicity
Select item 44929	NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)	DSP (E1833V +2 more)	Single nucleotide variant (missense variant)	not provided +12 more	GBenign/Likely benign
Select item 1175027	NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala)	DSP (G1421A +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
Select item 666381	NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser)	DSP (P1582S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
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)	not provided +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 44938	NM_004415.4(DSP):c.6390T>C (p.Ala2130=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +7 more	GBenign/Likely benign
Select item 180344	NM_004415.4(DSP):c.6393del (p.Gly2133fs)	DSP (G2133fs +2 more)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GPathogenic/Likely pathogenic
Select item 199901	NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)	DSP (G2133S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +9 more	GConflicting classifications of pathogenicity
Select item 534300	NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp)	DSP (R2189W +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GConflicting classifications of pathogenicity
Select item 44940	NM_004415.4(DSP):c.6655G>A (p.Val2219Ile)	DSP (V2219I +2 more)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +8 more	GBenign/Likely benign
Select item 44941	NM_004415.4(DSP):c.6678T>A (p.Gly2226=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
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 44943	NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)	DSP (A2294G +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
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 188473	NM_004415.4(DSP):c.7125G>A (p.Gly2375=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 1284655	NM_004415.4(DSP):c.7196A>G (p.Glu2399Gly)	DSP (E1800G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202182	NM_004415.4(DSP):c.7586A>G (p.Asp2529Gly)	DSP (D1930G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 137172	NM_004415.4(DSP):c.7734C>T (p.Ser2578=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +10 more	GBenign/Likely benign
Select item 195821	NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)	DSP (F2582C +2 more)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
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 44957	NM_004415.4(DSP):c.7995G>A (p.Thr2665=)	DSP	Single nucleotide variant (synonymous variant)	Woolly hair-skin fragility syndrome +5 more	GBenign/Likely 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 163289	NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)	DSP (Y2731H +2 more)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +7 more	GConflicting classifications of pathogenicity
Select item 281973	NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln)	DSP (R2752Q +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 44962	NM_004415.4(DSP):c.8268A>C (p.Ile2756=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign

<< First< Prev

Page of 2