DSP[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2665016	NM_004415.4(DSP):c.170+2341A>G	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8	GUncertain significance
Select item 668834	NM_004415.4(DSP):c.171-315_171-314insTATT	DSP	Insertion (intron variant)	not provided	GBenign
Select item 683487	NM_004415.4(DSP):c.171-285A>G	DSP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277449	NM_004415.4(DSP):c.171-97G>C	DSP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3074378	NM_004415.4(DSP):c.171-10G>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely benign
Select item 1172204	NM_004415.4(DSP):c.171-6C>T	DSP	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 2946287	NM_004415.4(DSP):c.171-5C>G	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 2929437	NM_004415.4(DSP):c.171-5C>T	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 534301	NM_004415.4(DSP):c.171-3dup	DSP	Duplication (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 509445	NM_004415.4(DSP):c.171-4T>C	DSP	Single nucleotide variant (intron variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 915713	NM_004415.4(DSP):c.171T>A (p.Cys57Ter)	DSP (C57*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GLikely pathogenic
Select item 925417	NM_004415.4(DSP):c.174A>G (p.Gln58=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 926170	NM_004415.4(DSP):c.177C>T (p.Thr59=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GBenign/Likely benign
Select item 949785	NM_004415.4(DSP):c.178G>A (p.Gly60Ser)	DSP (G60S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +6 more	GConflicting classifications of pathogenicity
Select item 1436000	NM_004415.4(DSP):c.181A>G (p.Thr61Ala)	DSP (T61A)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GUncertain significance
Select item 2656210	NM_004415.4(DSP):c.182C>A (p.Thr61Lys)	DSP (T61K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 836054	NM_004415.4(DSP):c.182C>T (p.Thr61Met)	DSP (T61M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +3 more	GConflicting classifications of pathogenicity
Select item 386619	NM_004415.4(DSP):c.183G>A (p.Thr61=)	DSP	Single nucleotide variant (synonymous variant)	not provided +5 more	GLikely benign
Select item 921503	NM_004415.4(DSP):c.185T>C (p.Met62Thr)	DSP (M62T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1034730	NM_004415.4(DSP):c.186G>A (p.Met62Ile)	DSP (M62I)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GUncertain significance
Select item 1172354	NM_004415.4(DSP):c.192G>T (p.Arg64Ser)	DSP (R64S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1113576	NM_004415.4(DSP):c.192G>A (p.Arg64=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GLikely benign
Select item 487612	NM_004415.4(DSP):c.193C>T (p.His65Tyr)	DSP (H65Y)	Single nucleotide variant (missense variant)	Wolff-Parkinson-White pattern	GUncertain significance
Select item 566790	NM_004415.4(DSP):c.194A>G (p.His65Arg)	DSP (H65R)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 534288	NM_004415.4(DSP):c.194A>T (p.His65Leu)	DSP (H65L)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 1643259	NM_004415.4(DSP):c.195C>T (p.His65=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 199931	NM_004415.4(DSP):c.197A>T (p.Gln66Leu)	DSP (Q66L)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GConflicting classifications of pathogenicity
Select item 2932872	NM_004415.4(DSP):c.201C>A (p.Asn67Lys)	DSP (N67K)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 701059	NM_004415.4(DSP):c.201C>T (p.Asn67=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 3074239	NM_004415.4(DSP):c.202C>T (p.Gln68Ter)	DSP (Q68*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GLikely pathogenic
Select item 2942753	NM_004415.4(DSP):c.204G>A (p.Gln68=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 163230	NM_004415.4(DSP):c.208_209dup (p.Ile71fs)	DSP (I71fs)	Microsatellite (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 804374	NM_004415.4(DSP):c.208A>G (p.Thr70Ala)	DSP (T70A)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GConflicting classifications of pathogenicity
Select item 1331864	NM_004415.4(DSP):c.209C>T (p.Thr70Ile)	DSP (T70I)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1629464	NM_004415.4(DSP):c.210C>T (p.Thr70=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2500550	NM_004415.4(DSP):c.211A>G (p.Ile71Val)	DSP (I71V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44872	NM_004415.4(DSP):c.214C>T (p.Gln72Ter)	DSP (Q72*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 761082	NM_004415.4(DSP):c.223C>T (p.Leu75=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 1565523	NM_004415.4(DSP):c.225G>A (p.Leu75=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 505712	NM_004415.4(DSP):c.226C>T (p.Gln76Ter)	DSP (Q76*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GLikely pathogenic
Select item 651396	NM_004415.4(DSP):c.227A>G (p.Gln76Arg)	DSP (Q76R)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 2935730	NM_004415.4(DSP):c.231C>T (p.Asn77=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 1009019	NM_004415.4(DSP):c.232T>G (p.Cys78Gly)	DSP (C78G)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 3072621	NM_004415.4(DSP):c.233G>T (p.Cys78Phe)	DSP (C78F)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 2032238	NM_004415.4(DSP):c.234C>T (p.Cys78=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GBenign
Select item 199835	NM_004415.4(DSP):c.237C>T (p.Ser79=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GBenign/Likely benign
Select item 2474311	NM_004415.4(DSP):c.238G>C (p.Asp80His)	DSP (D80H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1360811	NM_004415.4(DSP):c.238G>A (p.Asp80Asn)	DSP (D80N)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 1035519	NM_004415.4(DSP):c.242G>T (p.Cys81Phe)	DSP (C81F)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 199914	NM_004415.4(DSP):c.243_251del (p.Cys81_Arg84delinsTer)	DSP	Deletion (nonsense)	not provided	GPathogenic
Select item 44875	NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)	DSP (C81Y)	Single nucleotide variant (missense variant)	not provided +10 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 1077495	NM_004415.4(DSP):c.243C>T (p.Cys81=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GConflicting classifications of pathogenicity
Select item 2953301	NM_004415.4(DSP):c.247_248del (p.Met83fs)	DSP (M83fs)	Deletion (frameshift variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GPathogenic
Select item 2587384	NM_004415.4(DSP):c.250_273+1del	DSP	Deletion (splice donor variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 1057620	NM_004415.4(DSP):c.248T>C (p.Met83Thr)	DSP (M83T)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 520443	NM_004415.4(DSP):c.249G>A (p.Met83Ile)	DSP (M83I)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GConflicting classifications of pathogenicity
Select item 2117081	NM_004415.4(DSP):c.250C>A (p.Arg84=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 1525232	NM_004415.4(DSP):c.250C>G (p.Arg84Gly)	DSP (R84G)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GUncertain significance
Select item 451211	NM_004415.4(DSP):c.250C>T (p.Arg84Ter)	DSP (R84*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GPathogenic
Select item 640720	NM_004415.4(DSP):c.251G>A (p.Arg84Gln)	DSP (R84Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 3074262	NM_004415.4(DSP):c.253G>A (p.Ala85Thr)	DSP (A85T)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 2453256	NM_004415.4(DSP):c.255A>T (p.Ala85=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1312551	NM_004415.4(DSP):c.256G>C (p.Glu86Gln)	DSP (E86Q)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GConflicting classifications of pathogenicity
Select item 1413372	NM_004415.4(DSP):c.259C>G (p.Leu87Val)	DSP (L87V)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GBenign
Select item 1794028	NM_004415.4(DSP):c.262A>T (p.Ile88Phe)	DSP (I88F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1432445	NM_004415.4(DSP):c.262A>G (p.Ile88Val)	DSP (I88V)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GUncertain significance
Select item 163235	NM_004415.4(DSP):c.264C>T (p.Ile88=)	DSP	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 222571	NM_004415.4(DSP):c.265G>A (p.Val89Met)	DSP (V89M)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GConflicting classifications of pathogenicity
Select item 265102	NM_004415.4(DSP):c.268C>T (p.Gln90Ter)	DSP (Q90*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 163236	NM_004415.4(DSP):c.269A>G (p.Gln90Arg)	DSP (Q90R)	Single nucleotide variant (missense variant)	Cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 3073471	NM_004415.4(DSP):c.270G>C (p.Gln90His)	DSP (Q90H)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma	GUncertain significance
Select item 632785	NM_004415.4(DSP):c.272C>T (p.Pro91Leu)	DSP (P91L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 199915	NM_004415.4(DSP):c.273del (p.Glu92fs)	DSP (E92fs)	Deletion (frameshift variant)	Primary dilated cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 199847	NM_004415.4(DSP):c.273+1G>A	DSP	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 199848	NM_004415.4(DSP):c.273+3A>G	DSP	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 163237	NM_004415.4(DSP):c.273+5G>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +10 more	GConflicting classifications of pathogenicity
Select item 2067678	NM_004415.4(DSP):c.273+7_273+8insC	DSP	Insertion (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 2067683	NM_004415.4(DSP):c.273+8T>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 1137528	NM_004415.4(DSP):c.273+9T>C	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 2067687	NM_004415.4(DSP):c.273+10_273+11insGTGCAG	DSP	Insertion (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GUncertain significance
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 668529	NM_004415.4(DSP):c.273+11C>G	DSP	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 2945043	NM_004415.4(DSP):c.273+13T>C	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 1620643	NM_004415.4(DSP):c.273+14G>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 675400	NM_004415.4(DSP):c.273+180G>T	DSP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675401	NM_004415.4(DSP):c.273+191A>G	DSP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671433	NM_004415.4(DSP):c.274-309A>G	DSP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672775	NM_004415.4(DSP):c.274-285dup	DSP	Duplication (intron variant)	not provided	GBenign
Select item 137167	NM_004415.4(DSP):c.274-31T>C	DSP	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2143055	NM_004415.4(DSP):c.274-20A>C	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 1954413	NM_004415.4(DSP):c.274-18G>C	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 2931463	NM_004415.4(DSP):c.274-13T>C	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +1 more	GLikely benign
Select item 2775258	NM_004415.4(DSP):c.274-11T>C	DSP	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 1608278	NM_004415.4(DSP):c.274-9T>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 626735	NM_004415.4(DSP):c.274-8_274-7delinsAT	DSP	Indel (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GUncertain significance
Select item 2921477	NM_004415.4(DSP):c.274-7C>G	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +1 more	GLikely benign
Select item 3251115	NM_004415.4(DSP):c.274-6T>C	DSP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 920924	NM_004415.4(DSP):c.274-4T>G	DSP	Single nucleotide variant (intron variant)	Cardiomyopathy	GLikely benign
Select item 203365	NM_004415.4(DSP):c.274-3C>G	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8	GUncertain significance

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