"GeneDx"[submitter] AND "DSG2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326465	NM_001943.4(DSG2):c.-94G>C	DSG2, LOC130062340	Single nucleotide variant	Arrhythmogenic right ventricular dysplasia 10 +1 more	GBenign/Likely benign
Select item 326466	NM_001943.4(DSG2):c.-79C>G	DSG2, LOC130062340	Single nucleotide variant	Arrhythmogenic right ventricular dysplasia 10 +1 more	GConflicting classifications of pathogenicity
Select item 326467	NM_001943.5(DSG2):c.-55G>C	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1269521	NM_001943.5(DSG2):c.-37G>C	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 380755	NM_001943.5(DSG2):c.-22G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 388620	NM_001943.5(DSG2):c.-16C>G	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 510690	NM_001943.5(DSG2):c.-1G>C	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 137166	NM_001943.5(DSG2):c.6G>A (p.Ala2=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 326470	NM_001943.5(DSG2):c.15G>C (p.Pro5=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 3069565	NM_001943.5(DSG2):c.25T>G (p.Tyr9Asp)	DSG2, LOC130062340 (Y9D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 44318	NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)	DSG2, LOC130062340 (L15Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 567764	NM_001943.5(DSG2):c.45+1G>A	DSG2, LOC130062340	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely pathogenic
Select item 466343	NM_001943.5(DSG2):c.45+9C>G	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GConflicting classifications of pathogenicity
Select item 1284722	NM_001943.5(DSG2):c.45+16G>C	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GBenign/Likely benign
Select item 1296354	NM_001943.5(DSG2):c.45+17G>A	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GBenign/Likely benign
Select item 683472	NM_001943.5(DSG2):c.45+257A>C	DSG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 388617	NM_001943.5(DSG2):c.46-11T>C	DSG2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 514432	NM_001943.5(DSG2):c.46-3C>T	DSG2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 426374	NM_001943.5(DSG2):c.46A>G (p.Ile16Val)	DSG2 (I16V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 511964	NM_001943.5(DSG2):c.55A>G (p.Asn19Asp)	DSG2 (N19D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 137160	NM_001943.5(DSG2):c.57C>T (p.Asn19=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GBenign/Likely benign
Select item 1678146	NM_001943.5(DSG2):c.81+1G>T	DSG2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 381896	NM_001943.5(DSG2):c.81+10C>T	DSG2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1182019	NM_001943.5(DSG2):c.81+16_81+17delinsTG	DSG2	Indel (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GConflicting classifications of pathogenicity
Select item 671032	NM_001943.5(DSG2):c.81+86G>A	DSG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671013	NM_001943.5(DSG2):c.81+108C>T	DSG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678478	NM_001943.5(DSG2):c.81+237A>G	DSG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 512648	NM_001943.5(DSG2):c.82-10A>G	DSG2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1507790	NM_001943.5(DSG2):c.82-1G>A	DSG2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 199834	NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs)	DSG2 (L29fs)	Indel (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 422697	NM_001943.5(DSG2):c.91del (p.Thr31fs)	DSG2 (T31fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 199795	NM_001943.5(DSG2):c.98A>G (p.Asn33Ser)	DSG2 (N33S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 419925	NM_001943.5(DSG2):c.121C>A (p.His41Asn)	DSG2 (H41N)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GLikely benign
Select item 922473	NM_001943.5(DSG2):c.128A>G (p.His43Arg)	DSG2 (H43R)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 16812	NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)	DSG2 (R46Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1BB +5 more	GPathogenic/Likely pathogenic
Select item 450040	NM_001943.5(DSG2):c.145C>T (p.Arg49Cys)	DSG2 (R49C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 16810	NM_001943.5(DSG2):c.146G>A (p.Arg49His)	DSG2 (R49H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 326472	NM_001943.5(DSG2):c.147C>T (p.Arg49=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 420241	NM_001943.5(DSG2):c.151T>C (p.Trp51Arg)	DSG2 (W51R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 199796	NM_001943.5(DSG2):c.152G>C (p.Trp51Ser)	DSG2 (W51S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 326473	NM_001943.5(DSG2):c.164C>T (p.Pro55Leu)	DSG2 (P55L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 518924	NM_001943.5(DSG2):c.165C>T (p.Pro55=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GLikely benign
Select item 16818	NM_001943.5(DSG2):c.166G>A (p.Val56Met)	DSG2 (V56M)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 451391	NM_001943.5(DSG2):c.175C>T (p.Arg59Trp)	DSG2 (R59W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 373740	NM_001943.5(DSG2):c.202A>G (p.Asn68Asp)	DSG2 (N68D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 263501	NM_001943.5(DSG2):c.208A>G (p.Ile70Val)	DSG2 (I70V)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 199797	NM_001943.5(DSG2):c.216+3A>C	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GUncertain significance
Select item 137161	NM_001943.5(DSG2):c.216+16G>A	DSG2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 381491	NM_001943.5(DSG2):c.216+20A>C	DSG2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1218383	NM_001943.5(DSG2):c.216+197C>T	DSG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265167	NM_001943.5(DSG2):c.217-65C>G	DSG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 44296	NM_001943.5(DSG2):c.217-5G>T	DSG2	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 199798	NM_001943.5(DSG2):c.220C>A (p.His74Asn)	DSG2 (H74N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 227340	NM_001943.5(DSG2):c.221A>G (p.His74Arg)	DSG2 (H74R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +4 more	GConflicting classifications of pathogenicity
Select item 44299	NM_001943.5(DSG2):c.222T>C (p.His74=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 44306	NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys)	DSG2 (Y89C)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 326474	NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)	DSG2 (T90I)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 263740	NM_001943.5(DSG2):c.273A>G (p.Gly91=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GLikely benign
Select item 918433	NM_001943.5(DSG2):c.297T>C (p.Phe99=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 451114	NM_001943.5(DSG2):c.307_308del (p.Val103fs)	DSG2 (V103fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GPathogenic/Likely pathogenic
Select item 228627	NM_001943.5(DSG2):c.308T>C (p.Val103Ala)	DSG2 (V103A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GUncertain significance
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 3343848	NM_001943.5(DSG2):c.375dup (p.Leu126fs)	DSG2 (L126fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1214469	NM_001943.5(DSG2):c.369A>G (p.Pro123=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GLikely benign
Select item 669068	NM_001943.5(DSG2):c.379-22_379-18del	DSG2	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely benign
Select item 391597	NM_001943.5(DSG2):c.379-3C>T	DSG2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1341608	NM_001943.5(DSG2):c.390C>A (p.Tyr130Ter)	DSG2 (Y130*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 326475	NM_001943.5(DSG2):c.390C>T (p.Tyr130=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 44316	NM_001943.5(DSG2):c.391G>A (p.Ala131Thr)	DSG2 (A131T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +4 more	GConflicting classifications of pathogenicity
Select item 191626	NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)	DSG2 (E144K)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GUncertain significance
Select item 44317	NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)	DSG2 (R146L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 199822	NM_001943.5(DSG2):c.464_465insT (p.Glu156fs)	DSG2 (E156fs)	Insertion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 155784	NM_001943.5(DSG2):c.470C>T (p.Pro157Leu)	DSG2 (P157L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 44319	NM_001943.5(DSG2):c.473T>G (p.Val158Gly)	DSG2 (V158G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 1 +8 more	GBenign/Likely benign
Select item 280230	NM_001943.5(DSG2):c.495dup (p.Gly166fs)	DSG2 (G166fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GPathogenic
Select item 2443649	NM_001943.5(DSG2):c.500C>G (p.Ser167Cys)	DSG2 (S167C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1171938	NM_001943.5(DSG2):c.523C>T (p.His175Tyr)	DSG2 (H175Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
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 188446	NM_001943.5(DSG2):c.523+1G>A	DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular cardiomyopathy +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 137162	NM_001943.5(DSG2):c.523+9C>T	DSG2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 188449	NM_001943.5(DSG2):c.523+20T>C	DSG2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1BB +2 more	GLikely benign
Select item 188447	NM_001943.5(DSG2):c.523+24T>A	DSG2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 683845	NM_001943.5(DSG2):c.523+252A>G	DSG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204952	NM_001943.5(DSG2):c.523+269A>G	DSG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200283	NM_001943.5(DSG2):c.524-271C>T	DSG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678117	NM_001943.5(DSG2):c.524-243G>C	DSG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 44322	NM_001943.5(DSG2):c.524-9T>A	DSG2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GBenign
Select item 417865	NM_001943.5(DSG2):c.527C>T (p.Thr176Ile)	DSG2 (T176I)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 44323	NM_001943.5(DSG2):c.545A>G (p.Asn182Ser)	DSG2 (N182S)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 927357	NM_001943.5(DSG2):c.550A>G (p.Thr184Ala)	DSG2 (T184A)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 199828	NM_001943.5(DSG2):c.562G>A (p.Glu188Lys)	DSG2 (E188K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 44324	NM_001943.5(DSG2):c.581C>T (p.Ser194Leu)	DSG2 (S194L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 2499230	NM_001943.5(DSG2):c.593A>C (p.Tyr198Ser)	DSG2 (Y198S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 199823	NM_001943.5(DSG2):c.601_605del (p.Val201fs)	DSG2 (V201fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 512693	NM_001943.5(DSG2):c.600C>A (p.Ile200=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GLikely benign
Select item 1699855	NM_001943.5(DSG2):c.601G>T (p.Val201Leu)	DSG2 (V201L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 920246	NM_001943.5(DSG2):c.601G>A (p.Val201Ile)	DSG2 (V201I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GUncertain significance
Select item 423983	NM_001943.5(DSG2):c.613C>T (p.Pro205Ser)	DSG2 (P205S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 817197	NM_001943.5(DSG2):c.618_625del (p.Tyr207fs)	DSG2 (Y207fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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