DSG2[GENE] AND (18[CHR] AND 1:29104855[chrpos37] AND 29104662:20000000 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	LOC130062386, LOC130062387 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	LINC01900, LINC01908 +282 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC130062608, LOC130062609 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC130062514, LOC130062515 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 57393	GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1	ASXL3, B4GALT6 +167 more	Copy number loss	See cases	GPathogenic
Select item 60208	GRCh38/hg38 18q12.1(chr18:29879161-31727247)x3	B4GALT6, DSC1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 152371	GRCh38/hg38 18q12.1(chr18:31173251-31677694)x3	B4GALT6, DSG1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 150285	GRCh38/hg38 18q12.1(chr18:31318837-31586401)x3	DSG1, DSG1-AS1 +12 more	Copy number gain	See cases	GLikely benign
Select item 379135	NM_001943.5(DSG2):c.829-4G>A	DSG2	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1693186	NM_001943.5(DSG2):c.829-3C>A	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1301518	NM_001943.5(DSG2):c.829-2A>T	DSG2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2094454	NM_001943.5(DSG2):c.829-1G>A	DSG2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely pathogenic
Select item 199824	NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)	DSG2	Deletion (splice acceptor variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1762958	NM_001943.5(DSG2):c.832G>A (p.Glu278Lys)	DSG2 (E278K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 918212	NM_001943.5(DSG2):c.834A>G (p.Glu278=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 2775216	NM_001943.5(DSG2):c.838A>G (p.Met280Val)	DSG2 (M280V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 927864	NM_001943.5(DSG2):c.838A>C (p.Met280Leu)	DSG2 (M280L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1381916	NM_001943.5(DSG2):c.839T>C (p.Met280Thr)	DSG2 (M280T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 191628	NM_001943.5(DSG2):c.841G>A (p.Val281Ile)	DSG2 (V281I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1468652	NM_001943.5(DSG2):c.844GAA[1] (p.Glu283del)	DSG2 (E283del)	Microsatellite (inframe_deletion)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 519350	NM_001943.5(DSG2):c.846A>G (p.Glu282=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +2 more	GLikely benign
Select item 44328	NM_001943.5(DSG2):c.852T>C (p.Asn284=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 2807637	NM_001943.5(DSG2):c.853C>T (p.Gln285Ter)	DSG2 (Q285*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 1171582	NM_001943.5(DSG2):c.853C>G (p.Gln285Glu)	DSG2 (Q285E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1516680	NM_001943.5(DSG2):c.856G>A (p.Val286Ile)	DSG2 (V286I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 496148	NM_001943.5(DSG2):c.858C>T (p.Val286=)	DSG2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1331825	NM_001943.5(DSG2):c.861_862delinsTC (p.Val288Leu)	DSG2 (V288L)	Indel (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 928196	NM_001943.5(DSG2):c.861_863delinsTGG (p.Val288Gly)	DSG2 (V288G)	Indel (missense variant)	Cardiomyopathy	GUncertain significance
Select item 44329	NM_001943.5(DSG2):c.861C>T (p.Asn287=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GBenign
Select item 3075199	NM_001943.5(DSG2):c.863dup (p.Glu289fs)	DSG2 (E289fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 927920	NM_001943.5(DSG2):c.862G>C (p.Val288Leu)	DSG2 (V288L)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 199829	NM_001943.5(DSG2):c.862G>A (p.Val288Ile)	DSG2 (V288I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 1900994	NM_001943.5(DSG2):c.863T>G (p.Val288Gly)	DSG2 (V288G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 2035305	NM_001943.5(DSG2):c.864A>T (p.Val288=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1332475	NM_001943.5(DSG2):c.867A>T (p.Glu289Asp)	DSG2 (E289D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1370858	NM_001943.5(DSG2):c.869T>G (p.Val290Gly)	DSG2 (V290G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 639905	NM_001943.5(DSG2):c.871dup (p.Thr291fs)	DSG2 (T291fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 546345	NM_001943.5(DSG2):c.872C>T (p.Thr291Met)	DSG2 (T291M)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 2759043	NM_001943.5(DSG2):c.873G>C (p.Thr291=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 263760	NM_001943.5(DSG2):c.873G>A (p.Thr291=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +3 more	GLikely benign
Select item 466351	NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)	DSG2 (R292C)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 199802	NM_001943.5(DSG2):c.875G>T (p.Arg292Leu)	DSG2 (R292L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 44330	NM_001943.5(DSG2):c.875G>A (p.Arg292His)	DSG2 (R292H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GUncertain significance
Select item 2873709	NM_001943.5(DSG2):c.876_877inv (p.Ile293Val)	DSG2 (I293V)	Inversion (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 44331	NM_001943.5(DSG2):c.877A>G (p.Ile293Val)	DSG2 (I293V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GBenign
Select item 36014	NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)	DSG2 (I293L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 691669	NM_001943.5(DSG2):c.882dup (p.Val295fs)	DSG2 (V295fs)	Duplication (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 199803	NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)	DSG2 (K294E)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1396135	NM_001943.5(DSG2):c.881A>T (p.Lys294Ile)	DSG2 (K294I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 925291	NM_001943.5(DSG2):c.884T>C (p.Val295Ala)	DSG2 (V295A)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 2136687	NM_001943.5(DSG2):c.885G>T (p.Val295=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 513209	NM_001943.5(DSG2):c.885G>A (p.Val295=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1764979	NM_001943.5(DSG2):c.888C>G (p.Phe296Leu)	DSG2 (F296L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 669284	NM_001943.5(DSG2):c.888C>T (p.Phe296=)	DSG2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 835010	NM_001943.5(DSG2):c.893_898del (p.Ala298_Asp299del)	DSG2	Deletion (inframe_deletion)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 199804	NM_001943.5(DSG2):c.889G>A (p.Asp297Asn)	DSG2 (D297N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 925516	NM_001943.5(DSG2):c.890A>T (p.Asp297Val)	DSG2 (D297V)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 1171610	NM_001943.5(DSG2):c.891T>C (p.Asp297=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely benign
Select item 3073238	NM_001943.5(DSG2):c.892G>T (p.Ala298Ser)	DSG2 (A298S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3073237	NM_001943.5(DSG2):c.893C>T (p.Ala298Val)	DSG2 (A298V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 922469	NM_001943.5(DSG2):c.893C>G (p.Ala298Gly)	DSG2 (A298G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1765350	NM_001943.5(DSG2):c.898G>A (p.Glu300Lys)	DSG2 (E300K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2296496	NM_001943.5(DSG2):c.901A>T (p.Ile301Leu)	DSG2 (I301L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1509358	NM_001943.5(DSG2):c.902T>C (p.Ile301Thr)	DSG2 (I301T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 1519487	NM_001943.5(DSG2):c.904G>A (p.Gly302Ser)	DSG2 (G302S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 919478	NM_001943.5(DSG2):c.905G>A (p.Gly302Asp)	DSG2 (G302D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 410368	NM_001943.5(DSG2):c.908C>T (p.Ser303Phe)	DSG2 (S303F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 1459814	NM_001943.5(DSG2):c.909del (p.Asp304fs)	DSG2 (D304fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 2775217	NM_001943.5(DSG2):c.912T>C (p.Asp304=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GLikely benign
Select item 2093339	NM_001943.5(DSG2):c.912_941delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp304_Ser314delinsGluIleGlyTrpGlnIleLeuHisLeuLysTer)	DSG2	Indel (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 928226	NM_001943.5(DSG2):c.913A>G (p.Asn305Asp)	DSG2 (N305D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 918592	NM_001943.5(DSG2):c.914A>G (p.Asn305Ser)	DSG2 (N305S)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 534692	NM_001943.5(DSG2):c.915T>C (p.Asn305=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1980820	NM_001943.5(DSG2):c.916T>C (p.Trp306Arg)	DSG2 (W306R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 1459522	NM_001943.5(DSG2):c.917G>A (p.Trp306Ter)	DSG2 (W306*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular dysplasia 10	GPathogenic
Select item 16811	NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)	DSG2 (W306*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 518957	NM_001943.5(DSG2):c.919C>G (p.Leu307Val)	DSG2 (L307V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 2444691	NM_001943.5(DSG2):c.920T>G (p.Leu307Arg)	DSG2 (L307R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 452049	NM_001943.5(DSG2):c.928T>G (p.Phe310Val)	DSG2 (F310V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1920630	NM_001943.5(DSG2):c.934T>C (p.Phe312Leu)	DSG2 (F312L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 926335	NM_001943.5(DSG2):c.938C>T (p.Ala313Val)	DSG2 (A313V)	Single nucleotide variant (missense variant)	Cardiomyopathy	GLikely benign
Select item 2913696	NM_001943.5(DSG2):c.939A>G (p.Ala313=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1175929	NM_001943.5(DSG2):c.939A>C (p.Ala313=)	DSG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 44332	NM_001943.5(DSG2):c.941C>A (p.Ser314Ter)	DSG2 (S314*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 534688	NM_001943.5(DSG2):c.942A>G (p.Ser314=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely benign
Select item 3073889	NM_001943.5(DSG2):c.943G>C (p.Gly315Arg)	DSG2 (G315R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 422911	NM_001943.5(DSG2):c.955G>A (p.Gly319Ser)	DSG2 (G319S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 252596	NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)	DSG2 (F321I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 264242	NM_001943.5(DSG2):c.967A>G (p.Ile323Val)	DSG2 (I323V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2967625	NM_001943.5(DSG2):c.968T>C (p.Ile323Thr)	DSG2 (I323T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance

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