"Diagnostic Laboratory, Department of Genetics, University Medical Cen - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137166	NM_001943.5(DSG2):c.6G>A (p.Ala2=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +6 more	GBenign/Likely benign
Select item 16818	NM_001943.5(DSG2):c.166G>A (p.Val56Met)	DSG2 (V56M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 44296	NM_001943.5(DSG2):c.217-5G>T	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +4 more	GBenign/Likely benign
Select item 227340	NM_001943.5(DSG2):c.221A>G (p.His74Arg)	DSG2 (H74R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 44299	NM_001943.5(DSG2):c.222T>C (p.His74=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +4 more	GLikely benign
Select item 263740	NM_001943.5(DSG2):c.273A>G (p.Gly91=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +4 more	GLikely benign
Select item 326475	NM_001943.5(DSG2):c.390C>T (p.Tyr130=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 44317	NM_001943.5(DSG2):c.437G>T (p.Arg146Leu)	DSG2 (R146L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 44319	NM_001943.5(DSG2):c.473T>G (p.Val158Gly)	DSG2 (V158G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +8 more	GBenign/Likely benign
Select item 258495	NM_001943.5(DSG2):c.828+16C>A	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GBenign
Select item 44328	NM_001943.5(DSG2):c.852T>C (p.Asn284=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 44329	NM_001943.5(DSG2):c.861C>T (p.Asn287=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GBenign
Select item 44331	NM_001943.5(DSG2):c.877A>G (p.Ile293Val)	DSG2 (I293V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GBenign
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 44284	NM_001943.5(DSG2):c.1652-12C>T	DSG2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 44290	NM_001943.5(DSG2):c.1875G>C (p.Leu625=)	DSG2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 161224	NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)	DSG2 (G638R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 466333	NM_001943.5(DSG2):c.1920C>T (p.Gly640=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 44295	NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)	DSG2, DSG2-AS1 (E713K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GBenign/Likely benign
Select item 44297	NM_001943.5(DSG2):c.2211C>T (p.Gly737=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 44300	NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys)	DSG2, DSG2-AS1 (R773K)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 178020	NM_001943.5(DSG2):c.2484T>C (p.Asp828=)	DSG2-AS1, DSG2	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 44302	NM_001943.5(DSG2):c.2505A>G (p.Thr835=)	DSG2, DSG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiomyopathy +4 more	GBenign
Select item 44304	NM_001943.5(DSG2):c.2587A>C (p.Met863Leu)	DSG2, DSG2-AS1 (M863L)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 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)	Arrhythmogenic right ventricular dysplasia 10 +6 more	GBenign/Likely benign
Select item 44308	NM_001943.5(DSG2):c.2886T>G (p.Ile962Met)	DSG2, DSG2-AS1 (I962M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign
Select item 178022	NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)	DSG2, DSG2-AS1 (T1070M)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 389891	NM_001943.5(DSG2):c.3225G>A (p.Thr1075=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 44312	NM_001943.5(DSG2):c.3243C>T (p.Val1081=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GBenign/Likely benign
Select item 44315	NM_001943.5(DSG2):c.3321T>C (p.Val1107=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GBenign

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Items: 30