"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16846	NM_004415.4(DSP):c.88G>A (p.Val30Met)	DSP, DSP-AS1 (V30M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +8 more	GConflicting classifications of pathogenicity
Select item 923801	NM_004415.4(DSP):c.117G>T (p.Arg39Ser)	DSP-AS1, DSP (R39S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 451932	NM_004415.4(DSP):c.137G>A (p.Gly46Asp)	DSP, DSP-AS1 (G46D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +10 more	GConflicting classifications of pathogenicity
Select item 534291	NM_004415.4(DSP):c.170+5del	DSP, DSP-AS1	Deletion (intron variant)	Cardiomyopathy +2 more	GUncertain significance
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 +5 more	GConflicting classifications of pathogenicity
Select item 44875	NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)	DSP (C81Y)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +10 more	GConflicting classifications of pathogenicity
Select item 163236	NM_004415.4(DSP):c.269A>G (p.Gln90Arg)	DSP (Q90R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 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 626735	NM_004415.4(DSP):c.274-8_274-7delinsAT	DSP	Indel (intron variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 191634	NM_004415.4(DSP):c.386G>A (p.Arg129Gln)	DSP (R129Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 628319	NM_004415.4(DSP):c.485G>A (p.Arg162His)	DSP (R162H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GConflicting classifications of pathogenicity
Select item 388723	NM_004415.4(DSP):c.561C>T (p.Val187=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GLikely benign
Select item 2025682	NM_004415.4(DSP):c.575T>C (p.Leu192Ser)	DSP (L192S)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GConflicting classifications of pathogenicity
Select item 44945	NM_004415.4(DSP):c.688G>A (p.Asp230Asn)	DSP (D230N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GConflicting classifications of pathogenicity
Select item 377807	NM_004415.4(DSP):c.729C>T (p.Arg243=)	DSP	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 44951	NM_004415.4(DSP):c.741G>A (p.Ala247=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 2442877	NM_004415.4(DSP):c.801_820dup (p.Asn274fs)	DSP (N274fs)	Duplication (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 1329269	NM_004415.4(DSP):c.823A>G (p.Ile275Val)	DSP (I275V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 44977	NM_004415.4(DSP):c.860A>G (p.Asn287Ser)	DSP (N287S)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
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 178282	NM_004415.4(DSP):c.939+1G>A	DSP	Single nucleotide variant (splice donor variant)	Cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 44982	NM_004415.4(DSP):c.943C>T (p.Arg315Cys)	DSP (R315C)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +7 more	GConflicting classifications of pathogenicity
Select item 626736	NM_004415.4(DSP):c.1063C>T (p.Gln355Ter)	DSP (Q355*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GLikely pathogenic
Select item 357939	NM_004415.4(DSP):c.1149A>G (p.Glu383=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GConflicting classifications of pathogenicity
Select item 246658	NM_004415.4(DSP):c.1154C>T (p.Ala385Val)	DSP (A385V)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +9 more	GLikely benign
Select item 626737	NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)	DSP (L421P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +7 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 44856	NM_004415.4(DSP):c.1273C>T (p.Arg425Ter)	DSP (R425*)	Single nucleotide variant (nonsense)	DSP-related arrhythmogenic cardiomyopathy +7 more	GPathogenic/Likely pathogenic
Select item 857798	NM_004415.4(DSP):c.1288G>T (p.Glu430Ter)	DSP (E430*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GPathogenic/Likely pathogenic
Select item 188459	NM_004415.4(DSP):c.1352G>A (p.Arg451His)	DSP (R451H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 188460	NM_004415.4(DSP):c.1419+27_1419+28del	DSP	Deletion (intron variant)	Cardiomyopathy	GUncertain significance
Select item 626738	NM_004415.4(DSP):c.1444T>C (p.Cys482Arg)	DSP (C482R)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
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 915761	NM_004415.4(DSP):c.1520C>T (p.Ser507Phe)	DSP (S507F)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely pathogenic
Select item 465883	NM_004415.4(DSP):c.1574+7C>T	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GLikely benign
Select item 178026	NM_004415.4(DSP):c.1743C>T (p.Ala581=)	DSP	Single nucleotide variant (synonymous variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 658277	NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)	DSP (Q588*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GPathogenic/Likely pathogenic
Select item 919020	NM_004415.4(DSP):c.1970C>T (p.Thr657Ile)	DSP (T657I)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 915762	NM_004415.4(DSP):c.1992A>G (p.Gln664=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GBenign/Likely benign
Select item 626484	NM_004415.4(DSP):c.2036T>A (p.Ile679Lys)	DSP (I679K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 188462	NM_004415.4(DSP):c.2121C>T (p.Asn707=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GLikely benign
Select item 626485	NM_004415.4(DSP):c.2299T>G (p.Leu767Val)	DSP (L767V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 626486	NM_004415.4(DSP):c.2322C>G (p.Leu774=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 44874	NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)	DSP (R808C)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +8 more	GConflicting classifications of pathogenicity
Select item 626487	NM_004415.4(DSP):c.2423G>A (p.Arg808His)	DSP (R808H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 388661	NM_004415.4(DSP):c.2436+2T>C	DSP	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 8 +5 more	GConflicting classifications of pathogenicity
Select item 2691165	NM_004415.4(DSP):c.2437-11dup	DSP	Duplication (intron variant)	Cardiomyopathy	GBenign
Select item 199870	NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)	DSP (L851Q)	Single nucleotide variant (missense variant)	not specified +9 more	GConflicting classifications of pathogenicity
Select item 629587	NM_004415.4(DSP):c.2568C>T (p.Phe856=)	DSP	Single nucleotide variant (synonymous variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +4 more	GLikely benign
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 199872	NM_004415.4(DSP):c.2622C>G (p.Ile874Met)	DSP (I874M)	Single nucleotide variant (missense variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +8 more	GConflicting classifications of pathogenicity
Select item 44878	NM_004415.4(DSP):c.2673T>C (p.Tyr891=)	DSP	Single nucleotide variant (synonymous variant)	Woolly hair-skin fragility syndrome +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 right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 44881	NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)	DSP (R925W)	Single nucleotide variant (missense variant)	Woolly hair-skin fragility syndrome +10 more	GConflicting classifications of pathogenicity
Select item 199875	NM_004415.4(DSP):c.2774G>A (p.Arg925Gln)	DSP (R925Q)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +8 more	GConflicting classifications of pathogenicity
Select item 265104	NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)	DSP (L933F)	Single nucleotide variant (missense variant)	not specified +9 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 180326	NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)	DSP (R941*)	Single nucleotide variant (nonsense)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +5 more	GPathogenic/Likely pathogenic
Select item 1329263	NM_004415.4(DSP):c.2907del (p.Ser970fs)	DSP (S970fs)	Deletion (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 626488	NM_004415.4(DSP):c.2924T>C (p.Leu975Pro)	DSP (L975P)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 465890	NM_004415.4(DSP):c.2932A>G (p.Ile978Val)	DSP (I978V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +6 more	GConflicting classifications of pathogenicity
Select item 137170	NM_004415.4(DSP):c.2986-6T>A	DSP	Single nucleotide variant (intron variant)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +3 more	GBenign/Likely benign
Select item 518651	NM_004415.4(DSP):c.3102C>T (p.Ile1034=)	DSP	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 1329264	NM_004415.4(DSP):c.3137A>G (p.Asp1046Gly)	DSP (D1046G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 2691166	NM_004415.4(DSP):c.3195C>T (p.Tyr1065=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 626489	NM_004415.4(DSP):c.3282G>A (p.Lys1094=)	DSP	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 227342	NM_004415.4(DSP):c.3303C>T (p.Tyr1101=)	DSP	Single nucleotide variant (synonymous variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 2691167	NM_004415.4(DSP):c.3451G>T (p.Glu1151Ter)	DSP (E1151*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GLikely pathogenic
Select item 44893	NM_004415.4(DSP):c.3510G>A (p.Glu1170=)	DSP	Single nucleotide variant (synonymous variant)	not provided +7 more	GBenign/Likely benign
Select item 626490	NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)	DSP (R1184W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 8 +9 more	GConflicting classifications of pathogenicity
Select item 265810	NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)	DSP (R1184Q)	Single nucleotide variant (missense variant)	Lethal acantholytic epidermolysis bullosa +7 more	GConflicting classifications of pathogenicity
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 952426	NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter)	DSP (E1191*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GPathogenic/Likely pathogenic
Select item 199839	NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)	DSP (L1206I)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 925677	NM_004415.4(DSP):c.3633A>C (p.Glu1211Asp)	DSP (E1211D)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 44894	NM_004415.4(DSP):c.3646A>G (p.Ile1216Val)	DSP (I1216V)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2691168	NM_004415.4(DSP):c.3745C>G (p.Leu1249Val)	DSP (L1249V)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 1585335	NM_004415.4(DSP):c.3753T>C (p.Asp1251=)	DSP	Single nucleotide variant (intron variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GLikely benign
Select item 199881	NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter)	DSP (R1269*)	Single nucleotide variant (nonsense +1 more)	Cardiomyopathy +4 more	GPathogenic/Likely pathogenic
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 264035	NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)	DSP (R1308W)	Single nucleotide variant (missense variant +1 more)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 626739	NM_004415.4(DSP):c.3923G>T (p.Arg1308Leu)	DSP (R1308L)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +2 more	GUncertain significance
Select item 178028	NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)	DSP (R1308Q)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +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 right ventricular dysplasia 8 +4 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 +5 more	GLikely benign
Select item 626740	NM_004415.4(DSP):c.3982G>C (p.Glu1328Gln)	DSP (E1328Q)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +2 more	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 +7 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 provided +7 more	GBenign/Likely benign
Select item 199883	NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)	DSP (R1392Q)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 626741	NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)	DSP (R1400Q)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 8 +7 more	GConflicting classifications of pathogenicity
Select item 626742	NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro)	DSP (S1438P)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 626743	NM_004415.4(DSP):c.4332dup (p.Gln1445fs)	DSP (Q1445fs)	Duplication (frameshift variant +1 more)	Cardiomyopathy	GLikely pathogenic
Select item 44906	NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)	DSP (R1458G)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GBenign/Likely benign
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 920434	NM_004415.4(DSP):c.4395T>C (p.Tyr1465=)	DSP	Single nucleotide variant (synonymous variant +1 more)	Arrhythmogenic cardiomyopathy with wooly hair and keratoderma +2 more	GLikely benign
Select item 263576	NM_004415.4(DSP):c.4401A>G (p.Gln1467=)	DSP	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 626744	NM_004415.4(DSP):c.4447A>T (p.Ile1483Leu)	DSP (I1483L)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +2 more	GUncertain significance
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 465896	NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg)	DSP (L1489R)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity

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