ClinVar for PubMed (Select 17105751) - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2913240	NM_001943.5(DSG2):c.45+2T>C	DSG2, LOC130062340	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 2828585	NM_001943.5(DSG2):c.11_12insGCGAGGGTGCGATGGCACGGAG (p.Ser4fs)	DSG2, LOC130062340 (S4fs)	Insertion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2826490	NM_001943.5(DSG2):c.505G>T (p.Glu169Ter)	DSG2 (E169*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2807637	NM_001943.5(DSG2):c.853C>T (p.Gln285Ter)	DSG2 (Q285*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2767204	NM_001943.5(DSG2):c.462C>G (p.Asp154Glu)	DSG2 (D154E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2746733	NM_001943.5(DSG2):c.498del (p.Ser167fs)	DSG2 (S167fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2739198	NM_001943.5(DSG2):c.1801del (p.Glu601fs)	DSG2 (E601fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2736719	NM_001943.5(DSG2):c.462C>A (p.Asp154Glu)	DSG2 (D154E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2692970	NM_001943.5(DSG2):c.1689del (p.Arg565fs)	DSG2 (R565fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2576619	NM_001943.5(DSG2):c.1385del (p.Asn462fs)	DSG2 (N462fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic/Likely pathogenic
Select item 2118301	NM_001943.5(DSG2):c.290del (p.Pro97fs)	DSG2 (P97fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2110919	NM_001943.5(DSG2):c.361G>T (p.Glu121Ter)	DSG2 (E121*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2094454	NM_001943.5(DSG2):c.829-1G>A	DSG2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 2093339	NM_001943.5(DSG2):c.912_941delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp304_Ser314delinsGluIleGlyTrpGlnIleLeuHisLeuLysTer)	DSG2	Indel (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2052694	NM_001943.5(DSG2):c.81+1G>C	DSG2	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2024795	NM_001943.5(DSG2):c.1759dup (p.Thr587fs)	DSG2 (T587fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2017768	NM_001943.5(DSG2):c.2001+1G>A	DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 1918191	NM_001943.5(DSG2):c.1433dup (p.Thr480fs)	DSG2 (T480fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GPathogenic/Likely pathogenic
Select item 1752786	NM_001943.5(DSG2):c.630del (p.Phe211fs)	DSG2 (F211fs)	Deletion (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic
Select item 1507790	NM_001943.5(DSG2):c.82-1G>A	DSG2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1459814	NM_001943.5(DSG2):c.909del (p.Asp304fs)	DSG2 (D304fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 1459522	NM_001943.5(DSG2):c.917G>A (p.Trp306Ter)	DSG2 (W306*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 1456782	NM_001943.5(DSG2):c.423del (p.Lys141fs)	DSG2 (K141fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 1455568	NM_001943.5(DSG2):c.27C>A (p.Tyr9Ter)	DSG2, LOC130062340 (Y9*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 1429481	NM_001943.5(DSG2):c.1053_1056dup (p.Ile353fs)	DSG2 (I353fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 1427568	NM_001943.5(DSG2):c.527_533del (p.Thr176fs)	DSG2 (T176fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 1353815	NM_001943.5(DSG2):c.1705C>T (p.Gln569Ter)	DSG2 (Q569*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 1301518	NM_001943.5(DSG2):c.829-2A>T	DSG2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1171153	NM_001943.5(DSG2):c.355C>T (p.Arg119Ter)	DSG2 (R119*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 931696	NM_001943.5(DSG2):c.803_810dup (p.Val271fs)	DSG2 (V271fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 925437	NM_001943.5(DSG2):c.45+1G>T	DSG2, LOC130062340	Single nucleotide variant (splice donor variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 862906	NM_001943.5(DSG2):c.216+1G>T	DSG2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +1 more	GLikely pathogenic
Select item 691669	NM_001943.5(DSG2):c.882dup (p.Val295fs)	DSG2 (V295fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GPathogenic/Likely pathogenic
Select item 666600	NM_001943.5(DSG2):c.1319_1320del (p.Val440fs)	DSG2 (V440fs)	Microsatellite (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 657863	NM_001943.5(DSG2):c.3G>A (p.Met1Ile)	DSG2, LOC130062340 (M1I)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 653370	NM_001943.5(DSG2):c.523+1_523+2del	DSG2	Deletion (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GLikely pathogenic
Select item 585217	NM_001943.5(DSG2):c.1826dup (p.Leu610fs)	DSG2 (L610fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GPathogenic/Likely pathogenic
Select item 466350	NM_001943.5(DSG2):c.691-1G>A	DSG2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 466348	NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer)	DSG2	Deletion (nonsense)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GConflicting classifications of pathogenicity
Select item 451114	NM_001943.5(DSG2):c.307_308del (p.Val103fs)	DSG2 (V103fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 422697	NM_001943.5(DSG2):c.91del (p.Thr31fs)	DSG2 (T31fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GPathogenic/Likely pathogenic
Select item 410373	NM_001943.5(DSG2):c.690+1G>A	DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 280230	NM_001943.5(DSG2):c.495dup (p.Gly166fs)	DSG2 (G166fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 199825	NM_001943.4(DSG2):c.1015del	DSG2	Deletion	not provided +3 more	GConflicting classifications of pathogenicity
Select item 199824	NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)	DSG2	Deletion (splice acceptor variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 199822	NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)	DSG2 (E156fs)	Insertion (frameshift variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 199810	NM_001943.5(DSG2):c.1750C>T (p.Gln584Ter)	DSG2 (Q584*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 188450	NM_001943.5(DSG2):c.523+1G>C	DSG2	Single nucleotide variant (splice donor variant)	Cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 188446	NM_001943.5(DSG2):c.523+1G>A	DSG2	Single nucleotide variant (splice donor variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 44321	NM_001943.5(DSG2):c.523+2T>C	DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10 +4 more	GConflicting classifications of pathogenicity
Select item 44319	NM_001943.5(DSG2):c.473T>G (p.Val158Gly)	DSG2 (V158G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +8 more	GBenign/Likely benign
Select item 44307	NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)	DSG2, DSG2-AS1 (V920G)	Single nucleotide variant (missense variant)	DSG2-related condition +6 more	GBenign/Likely benign
Select item 44286	NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer)	DSG2	Microsatellite (nonsense)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 36009	NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)	DSG2 (V392I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 16818	NM_001943.5(DSG2):c.166G>A (p.Val56Met)	DSG2 (V56M)	Single nucleotide variant (missense variant)	DSG2-related condition +7 more	GConflicting classifications of pathogenicity
Select item 16811	NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)	DSG2 (W306*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 56