"GeneDx"[submitter] AND "LOC130062340"[gene] - ClinVar - NCBI

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Items: 15

	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