"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44295	NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys)	DSG2, DSG2-AS1 (E713K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 44297	NM_001943.5(DSG2):c.2211C>T (p.Gly737=)	DSG2-AS1, DSG2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 44300	NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys)	DSG2-AS1, DSG2 (R773K)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign
Select item 509789	NM_001943.5(DSG2):c.2340G>T (p.Ala780=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GLikely benign
Select item 44302	NM_001943.5(DSG2):c.2505A>G (p.Thr835=)	DSG2, DSG2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GBenign
Select item 44303	NM_001943.5(DSG2):c.2586T>C (p.Ser862=)	DSG2-AS1, DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GBenign
Select item 44304	NM_001943.5(DSG2):c.2587A>C (p.Met863Leu)	DSG2-AS1, DSG2 (M863L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +6 more	GBenign/Likely benign
Select item 44305	NM_001943.5(DSG2):c.2643C>T (p.Thr881=)	DSG2-AS1, DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 36011	NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro)	DSG2, DSG2-AS1 (S883P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +6 more	GBenign
Select item 137165	NM_001943.5(DSG2):c.2703A>G (p.Lys901=)	DSG2-AS1, DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 36012	NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile)	DSG2, DSG2-AS1 (T903I)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign
Select item 44307	NM_001943.5(DSG2):c.2759T>G (p.Val920Gly)	DSG2, DSG2-AS1 (V920G)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 1284529	NM_001943.5(DSG2):c.2796T>C (p.Asn932=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 44308	NM_001943.5(DSG2):c.2886T>G (p.Ile962Met)	DSG2-AS1, DSG2 (I962M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 199820	NM_001943.5(DSG2):c.2906C>T (p.Ala969Val)	DSG2, DSG2-AS1 (A969V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +4 more	GConflicting classifications of pathogenicity
Select item 1284596	NM_001943.5(DSG2):c.3027A>G (p.Gln1009=)	DSG2, DSG2-AS1	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 178022	NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met)	DSG2, DSG2-AS1 (T1070M)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 44312	NM_001943.5(DSG2):c.3243C>T (p.Val1081=)	DSG2-AS1, DSG2	Single nucleotide variant (synonymous variant)	not provided +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