"CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern O - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46186	NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)	DSC2 (A897fs)	Duplication (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +6 more	GBenign/Likely benign
Select item 46184	NM_024422.6(DSC2):c.2616C>T (p.Cys872=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GBenign/Likely benign
Select item 923184	NM_024422.6(DSC2):c.2610T>C (p.Gly870=)	DSC2	Single nucleotide variant (3 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GLikely benign
Select item 536272	NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu)	DSC2 (S864L)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +3 more	GUncertain significance
Select item 199787	NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs)	DSC2 (G863fs)	Microsatellite (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GUncertain significance
Select item 1174704	NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys)	DSC2 (Y839C)	Single nucleotide variant (3 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GUncertain significance
Select item 180318	NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)	DSC2 (R833C)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 326393	NM_024422.6(DSC2):c.2430G>A (p.Arg810=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GConflicting classifications of pathogenicity
Select item 180319	NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)	DSC2 (G790del)	Microsatellite (inframe_deletion)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 382242	NM_024422.6(DSC2):c.2259G>A (p.Ala753=)	DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia +4 more	GLikely benign
Select item 36005	NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)	DSC2 (L732V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 423386	NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)	DSC2 (D731N)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 626834	NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys)	DSC2 (T721K)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 915833	NM_024422.6(DSC2):c.2108G>T (p.Gly703Val)	DSC2 (G703V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 626835	NM_024422.6(DSC2):c.2036A>G (p.His679Arg)	DSC2 (H679R)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 626836	NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly)	DSC2 (D665G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +3 more	GUncertain significance
Select item 46173	NM_024422.6(DSC2):c.1914G>C (p.Gln638His)	DSC2 (Q638H)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 326397	NM_024422.6(DSC2):c.1788G>A (p.Ala596=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +5 more	GConflicting classifications of pathogenicity
Select item 46171	NM_024422.6(DSC2):c.1787C>T (p.Ala596Val)	DSC2 (A596V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +5 more	GConflicting classifications of pathogenicity
Select item 163183	NM_024422.6(DSC2):c.1776G>A (p.Ala592=)	DSC2	Single nucleotide variant (synonymous variant)	not specified +5 more	GLikely benign
Select item 163184	NM_024422.6(DSC2):c.1775C>T (p.Ala592Val)	DSC2 (A592V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 46170	NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)	DSC2 (I577V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 137158	NM_024422.6(DSC2):c.1719C>T (p.Asn573=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +5 more	GBenign/Likely benign
Select item 922091	NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser)	DSC2 (N571S)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GUncertain significance
Select item 920162	NM_024422.6(DSC2):c.1620C>G (p.Ile540Met)	DSC2 (I540M)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 155783	NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr)	DSC2 (I520T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +3 more	GConflicting classifications of pathogenicity
Select item 163188	NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr)	DSC2 (D513Y)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 416269	NM_024422.6(DSC2):c.1520+8C>G	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GLikely benign
Select item 36004	NM_024422.6(DSC2):c.1350A>G (p.Arg450=)	DSC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 46165	NM_024422.6(DSC2):c.1264-5C>T	DSC2	Single nucleotide variant (intron variant)	Familial isolated arrhythmogenic right ventricular dysplasia +5 more	GBenign/Likely benign
Select item 1329320	NM_024422.6(DSC2):c.1206C>A (p.Gly402=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 46160	NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)	DSC2 (T358I)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +6 more	GBenign/Likely benign
Select item 199765	NM_024422.6(DSC2):c.994T>C (p.Tyr332His)	DSC2 (Y332H)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 626837	NM_024422.6(DSC2):c.949G>A (p.Asp317Asn)	DSC2 (D317N)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GUncertain significance
Select item 46202	NM_024422.6(DSC2):c.907G>A (p.Val303Met)	DSC2 (V303M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GConflicting classifications of pathogenicity
Select item 928242	NM_024422.6(DSC2):c.898A>G (p.Thr300Ala)	DSC2 (T300A)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GUncertain significance
Select item 178019	NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)	DSC2 (T268A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +5 more	GConflicting classifications of pathogenicity
Select item 1329321	NM_024422.6(DSC2):c.687AAT[1] (p.Ile231del)	DSC2 (I231del)	Microsatellite (inframe_deletion)	Cardiomyopathy	GUncertain significance
Select item 518843	NM_024422.6(DSC2):c.669A>G (p.Pro223=)	DSC2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +3 more	GConflicting classifications of pathogenicity
Select item 924949	NM_024422.6(DSC2):c.662A>G (p.Tyr221Cys)	DSC2 (Y221C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 923949	NM_024422.6(DSC2):c.619G>C (p.Glu207Gln)	DSC2 (E207Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 626553	NM_024422.6(DSC2):c.529G>A (p.Gly177Arg)	DSC2 (G177R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 626554	NM_024422.6(DSC2):c.474+5C>T	DSC2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 808378	NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)	DSC2 (A133T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 199781	NM_024422.6(DSC2):c.370C>T (p.His124Tyr)	DSC2 (H124Y)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 241474	NM_024422.6(DSC2):c.360A>G (p.Leu120=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 626555	NM_024422.6(DSC2):c.357C>T (p.Val119=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 46188	NM_024422.6(DSC2):c.351A>G (p.Thr117=)	DSC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 163192	NM_024422.6(DSC2):c.348A>G (p.Gln116=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 46190	NM_024422.6(DSC2):c.327A>G (p.Ile109Met)	DSC2 (I109M)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 46189	NM_024422.6(DSC2):c.304G>A (p.Glu102Lys)	DSC2 (E102K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +6 more	GConflicting classifications of pathogenicity
Select item 46187	NM_024422.6(DSC2):c.270G>A (p.Glu90=)	DSC2	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 163193	NM_024422.6(DSC2):c.172T>G (p.Phe58Val)	DSC2 (F58V)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 2691163	NM_024422.6(DSC2):c.154+2T>A	DSC2	Single nucleotide variant (splice donor variant)	Cardiomyopathy	GLikely pathogenic
Select item 46166	NM_024422.6(DSC2):c.149G>A (p.Gly50Asp)	DSC2 (G50D)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 46204	NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer)	DSC2	Deletion (nonsense)	Familial isolated arrhythmogenic right ventricular dysplasia +6 more	GConflicting classifications of pathogenicity
Select item 700118	NM_024422.6(DSC2):c.70-7T>G	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GLikely benign
Select item 199777	NM_024422.6(DSC2):c.34G>A (p.Gly12Arg)	DSC2, DSCAS (G12R)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 46191	NM_024422.6(DSC2):c.32A>G (p.Asn11Ser)	DSCAS, DSC2 (N11S)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 199758	NM_024422.6(DSC2):c.23G>T (p.Gly8Val)	DSC2, DSCAS (G8V)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 925438	NM_024422.6(DSC2):c.20C>T (p.Ser7Phe)	DSC2, DSCAS (S7F)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GUncertain significance
Select item 44278	NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)	DSC2, DSG2 (T335A)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity

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Items: 62