"Color Diagnostics, LLC DBA Color Health"[submitter] AND "LOC130062340 - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163198	NM_001943.5(DSG2):c.-15G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 922399	NM_001943.5(DSG2):c.-12G>A	LOC130062340, DSG2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 178664	NM_001943.5(DSG2):c.-11G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 926635	NM_001943.5(DSG2):c.-3G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1171237	NM_001943.5(DSG2):c.-2C>T	LOC130062340, DSG2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
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 1172391	NM_001943.5(DSG2):c.1A>T (p.Met1Leu)	LOC130062340, DSG2 (M1L)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 924921	NM_001943.5(DSG2):c.1A>C (p.Met1Leu)	DSG2, LOC130062340 (M1L)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 1171456	NM_001943.5(DSG2):c.6G>T (p.Ala2=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
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 924083	NM_001943.5(DSG2):c.10A>G (p.Ser4Gly)	LOC130062340, DSG2 (S4G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
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 2085210	NM_001943.5(DSG2):c.20G>C (p.Arg7Pro)	DSG2, LOC130062340 (R7P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 2775202	NM_001943.5(DSG2):c.21C>T (p.Arg7=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 918240	NM_001943.5(DSG2):c.22G>A (p.Ala8Thr)	DSG2, LOC130062340 (A8T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 629781	NM_001943.5(DSG2):c.30C>A (p.Ala10=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 762484	NM_001943.5(DSG2):c.31C>T (p.Leu11=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 920722	NM_001943.5(DSG2):c.37C>T (p.Leu13Phe)	DSG2, LOC130062340 (L13F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 628323	NM_001943.5(DSG2):c.38T>G (p.Leu13Arg)	DSG2, LOC130062340 (L13R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GUncertain significance
Select item 44318	NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)	DSG2, LOC130062340 (L15Q)	Single nucleotide variant (missense variant)	Primary familial dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 925437	NM_001943.5(DSG2):c.45+1G>T	DSG2, LOC130062340	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GConflicting classifications of pathogenicity
Select item 923077	NM_001943.5(DSG2):c.45+6T>C	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22