C1864850[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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

Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326387	NM_024422.6(DSC2):c.*422C>T	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326389	NM_024422.6(DSC2):c.*166C>G	DSC2	Single nucleotide variant (3 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 46186	NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)	DSC2 (A897fs)	Duplication (3 prime UTR variant +1 more)	Familial isolated arrhythmogenic right ventricular dysplasia +6 more	GBenign/Likely benign
Select item 410646	NM_024422.6(DSC2):c.2683G>A (p.Ala895Thr)	DSC2 (A895T)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 179373	NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)	DSC2 (R875*)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +5 more	GUncertain significance
Select item 924672	NM_024422.6(DSC2):c.2583_2587dup (p.Gly863fs)	DSC2 (G863fs)	Duplication (3 prime UTR variant +1 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 199787	NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs)	DSC2 (G863fs)	Microsatellite (3 prime UTR variant +1 more)	Cardiomyopathy +2 more	GUncertain significance
Select item 1486344	NM_024422.6(DSC2):c.2545C>T (p.His849Tyr)	DSC2 (H849Y)	Single nucleotide variant (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 46182	NM_024422.6(DSC2):c.2498G>A (p.Arg833His)	DSC2 (R833H)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 926604	NM_024422.6(DSC2):c.2441C>T (p.Thr814Met)	DSC2 (T814M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GConflicting classifications of pathogenicity
Select item 46179	NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu)	DSC2 (R798L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 630584	NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp)	DSC2 (R798W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +3 more	GUncertain significance
Select item 576483	NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu)	DSC2 (G789E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 922883	NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr)	DSC2 (K788T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 263563	NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys)	DSC2 (E785K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 191619	NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)	DSC2 (G779R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 808376	NM_024422.6(DSC2):c.2334C>T (p.Asn778=)	DSC2	Single nucleotide variant (synonymous variant)	DSC2-related disorder +2 more	GLikely benign
Select item 199773	NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala)	DSC2 (G773A)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 373271	NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr)	DSC2 (A763T)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +4 more	GUncertain significance
Select item 419220	NM_024422.6(DSC2):c.2250+2T>C	DSC2	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 199771	NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln)	DSC2 (K749Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 423386	NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)	DSC2 (D731N)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 872389	NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)	DSC2 (T721M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 852557	NM_024422.6(DSC2):c.2014A>G (p.Ile672Val)	DSC2 (I672V)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 579571	NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr)	DSC2 (S615Y)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GUncertain significance
Select item 410648	NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)	DSC2 (M589T)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 1504865	NM_024422.6(DSC2):c.1745T>C (p.Val582Ala)	DSC2 (V582A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 137158	NM_024422.6(DSC2):c.1719C>T (p.Asn573=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 864394	NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser)	DSC2 (I565S)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GUncertain significance
Select item 922920	NM_024422.6(DSC2):c.1693A>G (p.Ile565Val)	DSC2 (I565V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GUncertain significance
Select item 1434979	NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu)	DSC2 (G556E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GUncertain significance
Select item 918390	NM_024422.6(DSC2):c.1579A>G (p.Ile527Val)	DSC2 (I527V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +3 more	GUncertain significance
Select item 496458	NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn)	DSC2 (S490N)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 36004	NM_024422.6(DSC2):c.1350A>G (p.Arg450=)	DSC2	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 265802	NM_024422.6(DSC2):c.1307G>T (p.Gly436Val)	DSC2 (G436V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GUncertain significance
Select item 518483	NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile)	DSC2 (T368I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 46160	NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile)	DSC2 (T358I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign/Likely benign
Select item 252639	NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)	DSC2 (R357C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 228620	NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr)	DSC2 (D350Y)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 387473	NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn)	DSC2 (T340N)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1299861	NM_024422.6(DSC2):c.959A>C (p.Gln320Pro)	DSC2 (Q320P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 1300575	NM_024422.6(DSC2):c.880del (p.Leu294fs)	DSC2 (L294fs)	Deletion (frameshift variant)	not provided +1 more	GLikely pathogenic
Select item 46199	NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter)	DSC2 (Y282*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GConflicting classifications of pathogenicity
Select item 920996	NM_024422.6(DSC2):c.744_746delinsCAA (p.Thr249Asn)	DSC2 (T249N)	Indel (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 199763	NM_024422.6(DSC2):c.745A>C (p.Thr249Pro)	DSC2 (T249P)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1172331	NM_024422.6(DSC2):c.734A>G (p.Glu245Gly)	DSC2 (E245G)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1319918	NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer)	DSC2	Deletion (nonsense)	Arrhythmogenic right ventricular dysplasia 11	GPathogenic
Select item 926742	NM_024422.6(DSC2):c.658G>A (p.Gly220Arg)	DSC2 (G220R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +3 more	GUncertain significance
Select item 1599008	NM_024422.6(DSC2):c.630+19G>A	DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GBenign/Likely benign
Select item 923949	NM_024422.6(DSC2):c.619G>C (p.Glu207Gln)	DSC2 (E207Q)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +4 more	GUncertain significance
Select item 574365	NM_024422.6(DSC2):c.596G>A (p.Arg199His)	DSC2 (R199H)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1392918	NM_024422.6(DSC2):c.537C>A (p.Asp179Glu)	DSC2 (D179E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 889856	NM_024422.6(DSC2):c.517A>T (p.Ile173Leu)	DSC2 (I173L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GUncertain significance
Select item 808378	NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)	DSC2 (A133T)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 468383	NM_024422.6(DSC2):c.395G>A (p.Arg132His)	DSC2 (R132H)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 962465	NM_024422.6(DSC2):c.373A>G (p.Thr125Ala)	DSC2 (T125A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GUncertain significance
Select item 518920	NM_024422.6(DSC2):c.325A>C (p.Ile109Leu)	DSC2 (I109L)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GUncertain significance
Select item 263702	NM_024422.6(DSC2):c.321G>T (p.Lys107Asn)	DSC2 (K107N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +4 more	GUncertain significance
Select item 582953	NM_024422.6(DSC2):c.295T>A (p.Ser99Thr)	DSC2 (S99T)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GConflicting classifications of pathogenicity
Select item 410656	NM_024422.6(DSC2):c.286A>G (p.Ile96Val)	DSC2 (I96V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 468381	NM_024422.6(DSC2):c.266C>T (p.Ser89Leu)	DSC2 (S89L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1005956	NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys)	DSC2 (Y80C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +3 more	GUncertain significance
Select item 942350	NM_024422.6(DSC2):c.186T>A (p.Asn62Lys)	DSC2 (N62K)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +1 more	GUncertain significance
Select item 416270	NM_024422.6(DSC2):c.174T>C (p.Phe58=)	DSC2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GBenign/Likely benign
Select item 921132	NM_024422.6(DSC2):c.133G>A (p.Ala45Thr)	DSC2 (A45T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +3 more	GUncertain significance
Select item 503979	NM_024422.6(DSC2):c.34_35del (p.Gly12fs)	DSCAS, DSC2 (G12fs)	Deletion (frameshift variant)	Familial isolated arrhythmogenic right ventricular dysplasia +2 more	GConflicting classifications of pathogenicity
Select item 891405	NM_024422.6(DSC2):c.14G>T (p.Arg5Leu)	DSC2, DSCAS (R5L)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 199776	NM_024422.6(DSC2):c.4G>A (p.Glu2Lys)	DSC2, DSCAS (E2K)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 380703	NM_024422.6(DSC2):c.-25C>G	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 228621	NM_024422.6(DSC2):c.-113C>A	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 46158	NM_024422.6(DSC2):c.-408T>C	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance

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: 71