"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "LOC1300 - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 657863	NM_001943.5(DSG2):c.3G>A (p.Met1Ile)	DSG2, LOC130062340 (M1I)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 2828585	NM_001943.5(DSG2):c.11_12insGCGAGGGTGCGATGGCACGGAG (p.Ser4fs)	DSG2, LOC130062340 (S4fs)	Insertion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 137166	NM_001943.5(DSG2):c.6G>A (p.Ala2=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 2695863	NM_001943.5(DSG2):c.7C>G (p.Arg3Gly)	DSG2, LOC130062340 (R3G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 1438100	NM_001943.5(DSG2):c.8G>A (p.Arg3Gln)	DSG2, LOC130062340 (R3Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 2183856	NM_001943.5(DSG2):c.10A>C (p.Ser4Arg)	DSG2, LOC130062340 (S4R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
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 1769349	NM_001943.5(DSG2):c.12C>T (p.Ser4=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GLikely benign
Select item 2899992	NM_001943.5(DSG2):c.13C>G (p.Pro5Ala)	DSG2, LOC130062340 (P5A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 496147	NM_001943.5(DSG2):c.14C>T (p.Pro5Leu)	DSG2, LOC130062340 (P5L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 326470	NM_001943.5(DSG2):c.15G>C (p.Pro5=)	LOC130062340, DSG2	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 1466114	NM_001943.5(DSG2):c.26A>T (p.Tyr9Phe)	DSG2, LOC130062340 (Y9F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 1455568	NM_001943.5(DSG2):c.27C>A (p.Tyr9Ter)	DSG2, LOC130062340 (Y9*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
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 2770046	NM_001943.5(DSG2):c.31C>G (p.Leu11Val)	DSG2, LOC130062340 (L11V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 762484	NM_001943.5(DSG2):c.31C>T (p.Leu11=)	LOC130062340, DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GLikely benign
Select item 1393923	NM_001943.5(DSG2):c.32T>G (p.Leu11Arg)	DSG2, LOC130062340 (L11R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 1731044	NM_001943.5(DSG2):c.33G>C (p.Leu11=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 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 2847631	NM_001943.5(DSG2):c.39T>G (p.Leu13=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1023346	NM_001943.5(DSG2):c.42_44del (p.Leu15del)	DSG2, LOC130062340 (L15del)	Deletion (inframe_deletion)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 466342	NM_001943.5(DSG2):c.42C>T (p.Leu14=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 44318	NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)	DSG2, LOC130062340 (L15Q)	Single nucleotide variant (missense variant)	not provided +6 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 567764	NM_001943.5(DSG2):c.45+1G>A	LOC130062340, DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely pathogenic
Select item 2913240	NM_001943.5(DSG2):c.45+2T>C	LOC130062340, DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 1359710	NM_001943.5(DSG2):c.45+5G>C	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
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
Select item 1919341	NM_001943.5(DSG2):c.45+8C>T	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 534691	NM_001943.5(DSG2):c.45+9C>T	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
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 758426	NM_001943.5(DSG2):c.45+10G>A	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 326471	NM_001943.5(DSG2):c.45+10G>T	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GConflicting classifications of pathogenicity
Select item 2910509	NM_001943.5(DSG2):c.45+15del	DSG2, LOC130062340	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
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 2137878	NM_001943.5(DSG2):c.45+18G>A	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1401338	NM_001943.5(DSG2):c.45+18G>T	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1623554	NM_001943.5(DSG2):c.45+19A>G	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign

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Items: 40