Related gene-specific medical variations for Gene (Select 1824) - ClinVar

Links from Gene

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3072917	NM_024422.6(DSC2):c.53T>G (p.Leu18Arg)	DSC2, DSCAS (L18R)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3072189	NM_024422.6(DSC2):c.41T>G (p.Leu14Arg)	DSC2, DSCAS (L14R)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3070882	NM_024422.6(DSC2):c.21C>T (p.Ser7=)	DSCAS, DSC2	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GLikely benign
Select item 3070607	NM_024422.6(DSC2):c.35_37dup (p.Gly12_Ala13insGly)	DSC2, DSCAS	Duplication (inframe_insertion)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3068563	NM_024422.6(DSC2):c.68C>G (p.Ala23Gly)	DSC2, DSCAS (A23G)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia	GUncertain significance
Select item 3011398	NM_024422.6(DSC2):c.62C>T (p.Thr21Ile)	DSC2, DSCAS (T21I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2906384	NM_024422.6(DSC2):c.2T>G (p.Met1Arg)	DSC2, DSCAS (M1R)	Single nucleotide variant (missense variant +1 more)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2900185	NM_024422.6(DSC2):c.16C>T (p.Pro6Ser)	DSC2, DSCAS (P6S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2795736	NM_024422.6(DSC2):c.46C>G (p.Arg16Gly)	DSC2, DSCAS (R16G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2775201	NM_024422.6(DSC2):c.-4C>T	DSCAS, DSC2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 2775200	NM_024422.6(DSC2):c.54C>A (p.Leu18=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 2775199	NM_024422.6(DSC2):c.69G>T (p.Ala23=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GUncertain significance
Select item 2500547	NM_024422.6(DSC2):c.11C>T (p.Ala4Val)	DSCAS, DSC2 (A4V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110894	NM_024422.6(DSC2):c.16C>G (p.Pro6Ala)	DSC2, DSCAS (P6A)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 2028138	NM_024422.6(DSC2):c.69+15G>C	DSC2, DSCAS	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 1951951	NM_024422.6(DSC2):c.69+5G>A	DSCAS, DSC2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 1906558	NM_024422.6(DSC2):c.69+9A>T	DSC2, DSCAS	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 1808871	GRCh37/hg19 18q12.1(chr18:28628215-28683174)x1	DSC2	Copy number loss	not provided	GUncertain significance
Select item 1756059	NM_024422.6(DSC2):c.68C>T (p.Ala23Val)	DSC2, DSCAS (A23V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1753302	NM_024422.6(DSC2):c.63C>T (p.Thr21=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1741789	NM_024422.6(DSC2):c.45C>T (p.Cys15=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1734059	NM_024422.6(DSC2):c.36A>T (p.Gly12=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1656543	NM_024422.6(DSC2):c.27C>T (p.Ser9=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GLikely benign
Select item 1642560	NM_024422.6(DSC2):c.69+12C>A	DSC2, DSCAS	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 1621362	NM_024422.6(DSC2):c.69+7G>A	DSC2, DSCAS	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 1611674	NM_024422.6(DSC2):c.66C>T (p.Leu22=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 1504499	NM_024422.6(DSC2):c.17C>T (p.Pro6Leu)	DSC2, DSCAS (P6L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 1490921	NM_024422.6(DSC2):c.19T>C (p.Ser7Pro)	DSC2, DSCAS (S7P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 1452718	NM_024422.6(DSC2):c.69+18C>T	DSC2, DSCAS	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 1338897	NM_024422.6(DSC2):c.30G>A (p.Trp10Ter)	DSC2, DSCAS (W10*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1322769	NM_024422.6(DSC2):c.69+1G>A	DSC2, DSCAS	Single nucleotide variant (splice donor variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1308314	NM_024422.6(DSC2):c.38C>T (p.Ala13Val)	DSC2, DSCAS (A13V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1297708	NM_024422.6(DSC2):c.46C>A (p.Arg16=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1212510	NM_024422.6(DSC2):c.69+103G>C	DSC2, DSCAS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195346	NM_024422.6(DSC2):c.69+83dup	DSC2, DSCAS	Duplication (intron variant)	not provided	GLikely benign
Select item 1172208	NM_024422.6(DSC2):c.60G>A (p.Leu20=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Familial isolated arrhythmogenic right ventricular dysplasia +3 more	GLikely benign
Select item 1151976	NM_024422.6(DSC2):c.69+8T>C	DSC2, DSCAS	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 1124455	NM_024422.6(DSC2):c.33C>T (p.Asn11=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely benign
Select item 1123885	NM_024422.6(DSC2):c.69+9A>G	DSC2, DSCAS	Single nucleotide variant (intron variant)	DSC2-related disorder +1 more	GLikely benign
Select item 956961	NM_024422.6(DSC2):c.69+2T>G	DSC2, DSCAS	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 11	GLikely pathogenic
Select item 926328	NM_024422.6(DSC2):c.28T>C (p.Trp10Arg)	DSCAS, DSC2 (W10R)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 926303	NM_024422.6(DSC2):c.69+2T>C	DSC2, DSCAS	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GConflicting classifications of pathogenicity
Select item 925908	NM_024422.6(DSC2):c.1A>G (p.Met1Val)	DSC2, DSCAS (M1V)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +2 more	GUncertain significance
Select item 925438	NM_024422.6(DSC2):c.20C>T (p.Ser7Phe)	DSC2, DSCAS (S7F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GUncertain significance
Select item 925235	NM_024422.6(DSC2):c.-12C>G	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GLikely benign
Select item 924236	NM_024422.6(DSC2):c.69G>A (p.Ala23=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GUncertain significance
Select item 924102	NM_024422.6(DSC2):c.48G>A (p.Arg16=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 923854	NM_024422.6(DSC2):c.-6C>T	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 923096	NM_024422.6(DSC2):c.13C>G (p.Arg5Gly)	DSC2, DSCAS (R5G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign
Select item 922713	NM_024422.6(DSC2):c.62C>A (p.Thr21Asn)	DSC2, DSCAS (T21N)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 922112	NM_024422.6(DSC2):c.24C>T (p.Gly8=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 921246	NM_024422.6(DSC2):c.46C>T (p.Arg16Trp)	DSC2, DSCAS (R16W)	Single nucleotide variant (missense variant)	Familial isolated arrhythmogenic right ventricular dysplasia +1 more	GUncertain significance
Select item 919606	NM_024422.6(DSC2):c.32_34delinsGCA (p.Asn11_Gly12delinsSerArg)	DSC2, DSCAS	Indel (missense variant)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 891648	NM_024422.6(DSC2):c.-277T>A	DSCAS, DSC2	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 891647	NM_024422.6(DSC2):c.-187C>T	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 891646	NM_024422.6(DSC2):c.-95C>G	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
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 889235	NM_024422.6(DSC2):c.-409C>T	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 810967	NM_024422.6(DSC2):c.2509-18T>C	DSC2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 674219	NM_024422.6(DSC2):c.69+29G>A	DSC2, DSCAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 636732	NM_024422.6(DSC2):c.1816C>A (p.Pro606Thr)	DSC2 (P606T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 629733	NM_024422.6(DSC2):c.47G>A (p.Arg16Gln)	DSC2, DSCAS (R16Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +2 more	GConflicting classifications of pathogenicity
Select item 536265	NM_024422.6(DSC2):c.22G>A (p.Gly8Ser)	DSC2, DSCAS (G8S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 519437	NM_024422.6(DSC2):c.12C>A (p.Ala4=)	DSC2, DSCAS	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 519338	NM_024422.6(DSC2):c.30G>T (p.Trp10Cys)	DSC2, DSCAS (W10C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 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 387851	NM_024422.6(DSC2):c.-22C>T	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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 377801	NM_024422.6(DSC2):c.-31C>T	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 326407	NM_024422.6(DSC2):c.-424G>T	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 326406	NM_024422.6(DSC2):c.-392G>A	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 326405	NM_024422.6(DSC2):c.-381G>C	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326404	NM_024422.6(DSC2):c.-366A>G	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326403	NM_024422.6(DSC2):c.-365T>A	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326402	NM_024422.6(DSC2):c.-155G>T	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326401	NM_024422.6(DSC2):c.-132C>A	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular dysplasia 11	GUncertain significance
Select item 326400	NM_024422.6(DSC2):c.-42C>T	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 326399	NM_024422.6(DSC2):c.-20A>C	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 241473	NM_024422.6(DSC2):c.34G>C (p.Gly12Arg)	DSCAS, DSC2 (G12R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 11 +1 more	GConflicting classifications of pathogenicity
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 222556	NM_024422.6(DSC2):c.47G>C (p.Arg16Pro)	DSC2, DSCAS (R16P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 199777	NM_024422.6(DSC2):c.34G>A (p.Gly12Arg)	DSC2, DSCAS (G12R)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GBenign/Likely benign
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 199759	NM_024422.6(DSC2):c.26C>G (p.Ser9Cys)	DSC2, DSCAS (S9C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 199758	NM_024422.6(DSC2):c.23G>T (p.Gly8Val)	DSC2, DSCAS (G8V)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 179800	NM_024422.6(DSC2):c.-222C>A	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	not specified	Gnot provided
Select item 179518	NM_024422.6(DSC2):c.-302C>T	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	not specified	Gnot provided
Select item 177857	NM_024422.6(DSC2):c.-243_-234del	DSC2, DSCAS	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 163197	NM_024422.6(DSC2):c.-298C>T	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 137159	NM_024422.6(DSC2):c.-45A>C	DSC2, DSCAS	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 46191	NM_024422.6(DSC2):c.32A>G (p.Asn11Ser)	DSC2, DSCAS (N11S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign
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

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Items: 92