DSG2[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 683472	NM_001943.5(DSG2):c.45+257A>C	DSG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3668067	NM_001943.5(DSG2):c.46-20C>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2164358	NM_001943.5(DSG2):c.46-14A>C	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2142724	NM_001943.5(DSG2):c.46-14A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GUncertain significance
Select item 2969868	NM_001943.5(DSG2):c.46-12T>A	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 388617	NM_001943.5(DSG2):c.46-11T>C	DSG2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1117862	NM_001943.5(DSG2):c.46-9A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 514432	NM_001943.5(DSG2):c.46-3C>T	DSG2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 926420	NM_001943.5(DSG2):c.46A>T (p.Ile16Phe)	DSG2 (I16F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 426374	NM_001943.5(DSG2):c.46A>G (p.Ile16Val)	DSG2 (I16V)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GUncertain significance
Select item 926324	NM_001943.5(DSG2):c.47T>C (p.Ile16Thr)	DSG2 (I16T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1BB +2 more	GUncertain significance
Select item 3073806	NM_001943.5(DSG2):c.53T>G (p.Phe18Cys)	DSG2 (F18C)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 511964	NM_001943.5(DSG2):c.55A>G (p.Asn19Asp)	DSG2 (N19D)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GBenign/Likely benign
Select item 137160	NM_001943.5(DSG2):c.57C>T (p.Asn19=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GBenign/Likely benign
Select item 923895	NM_001943.5(DSG2):c.58G>A (p.Val20Ile)	DSG2 (V20I)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 1095491	NM_001943.5(DSG2):c.60T>C (p.Val20=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely benign
Select item 3073069	NM_001943.5(DSG2):c.62G>A (p.Gly21Glu)	DSG2 (G21E)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3075198	NM_001943.5(DSG2):c.64A>G (p.Ser22Gly)	DSG2 (S22G)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 629173	NM_001943.5(DSG2):c.73C>T (p.His25Tyr)	DSG2 (H25Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 3011825	NM_001943.5(DSG2):c.76T>C (p.Leu26=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2775203	NM_001943.5(DSG2):c.78dup (p.Gln27fs)	DSG2 (Q27fs)	Duplication (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 925256	NM_001943.5(DSG2):c.78A>G (p.Leu26=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 1438399	NM_001943.5(DSG2):c.81G>A (p.Gln27=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 2052694	NM_001943.5(DSG2):c.81+1G>C	DSG2	Single nucleotide variant (splice donor variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GConflicting classifications of pathogenicity
Select item 1678146	NM_001943.5(DSG2):c.81+1G>T	DSG2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3071332	NM_001943.5(DSG2):c.81+5G>A	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 1934468	NM_001943.5(DSG2):c.81+5_81+6del	DSG2	Deletion (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 756346	NM_001943.5(DSG2):c.81+7A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1934469	NM_001943.5(DSG2):c.81+8_81+9insGGC	DSG2	Insertion (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2840233	NM_001943.5(DSG2):c.81+9A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1934470	NM_001943.5(DSG2):c.81+10C>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 381896	NM_001943.5(DSG2):c.81+10C>T	DSG2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1904549	NM_001943.5(DSG2):c.81+13A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2177047	NM_001943.5(DSG2):c.81+14G>A	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2190072	NM_001943.5(DSG2):c.81+15G>A	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2561610	NM_001943.5(DSG2):c.81+16G>T	DSG2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 1182019	NM_001943.5(DSG2):c.81+16_81+17delinsTG	DSG2	Indel (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1284607	NM_001943.5(DSG2):c.81+17A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely benign
Select item 671032	NM_001943.5(DSG2):c.81+86G>A	DSG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671013	NM_001943.5(DSG2):c.81+108C>T	DSG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678478	NM_001943.5(DSG2):c.81+237A>G	DSG2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1591797	NM_001943.5(DSG2):c.82-19C>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1435661	NM_001943.5(DSG2):c.82-17A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3075035	NM_001943.5(DSG2):c.82-13dup	DSG2	Duplication (intron variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 2019560	NM_001943.5(DSG2):c.82-13T>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3073190	NM_001943.5(DSG2):c.82-12C>T	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely benign
Select item 512648	NM_001943.5(DSG2):c.82-10A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GLikely benign
Select item 1587179	NM_001943.5(DSG2):c.82-8T>C	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 919705	NM_001943.5(DSG2):c.82-4A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GLikely benign
Select item 922662	NM_001943.5(DSG2):c.82-3T>C	DSG2	Single nucleotide variant (intron variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 927630	NM_001943.5(DSG2):c.82-2A>G	DSG2	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy	GUncertain significance
Select item 1507790	NM_001943.5(DSG2):c.82-1G>A	DSG2	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 44327	NM_001943.5(DSG2):c.84C>G (p.Val28=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 199834	NM_001943.5(DSG2):c.86_87delinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29fs)	DSG2 (L29fs)	Indel (frameshift variant)	Cardiovascular phenotype +1 more	GPathogenic/Likely pathogenic
Select item 191625	NM_001943.5(DSG2):c.86T>C (p.Leu29Ser)	DSG2 (L29S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1906405	NM_001943.5(DSG2):c.87A>T (p.Leu29Phe)	DSG2 (L29F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 1332567	NM_001943.5(DSG2):c.90C>G (p.Ser30Arg)	DSG2 (S30R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 1088896	NM_001943.5(DSG2):c.90C>T (p.Ser30=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 422697	NM_001943.5(DSG2):c.91del (p.Thr31fs)	DSG2 (T31fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1969687	NM_001943.5(DSG2):c.95G>A (p.Arg32Lys)	DSG2 (R32K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3637540	NM_001943.5(DSG2):c.97A>T (p.Asn33Tyr)	DSG2 (N33Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 199795	NM_001943.5(DSG2):c.98A>G (p.Asn33Ser)	DSG2 (N33S)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 179897	NM_001943.5(DSG2):c.98A>C (p.Asn33Thr)	DSG2 (N33T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 749713	NM_001943.5(DSG2):c.99T>C (p.Asn33=)	DSG2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3386568	NM_001943.5(DSG2):c.104A>C (p.Asn35Thr)	DSG2 (N35T)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 919997	NM_001943.5(DSG2):c.105T>A (p.Asn35Lys)	DSG2 (N35K)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 919835	NM_001943.5(DSG2):c.106A>G (p.Lys36Glu)	DSG2 (K36E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2775204	NM_001943.5(DSG2):c.107A>C (p.Lys36Thr)	DSG2 (K36T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1579822	NM_001943.5(DSG2):c.108G>A (p.Lys36=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 2771888	NM_001943.5(DSG2):c.111G>T (p.Leu37=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1650182	NM_001943.5(DSG2):c.111G>C (p.Leu37=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 3071492	NM_001943.5(DSG2):c.112C>T (p.Leu38Phe)	DSG2 (L38F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 3637541	NM_001943.5(DSG2):c.119A>G (p.Lys40Arg)	DSG2 (K40R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 419925	NM_001943.5(DSG2):c.121C>A (p.His41Asn)	DSG2 (H41N)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +6 more	GLikely benign
Select item 659450	NM_001943.5(DSG2):c.122A>T (p.His41Leu)	DSG2 (H41L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GUncertain significance
Select item 2146731	NM_001943.5(DSG2):c.125C>T (p.Pro42Leu)	DSG2 (P42L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 2048782	NM_001943.5(DSG2):c.127C>T (p.His43Tyr)	DSG2 (H43Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 922473	NM_001943.5(DSG2):c.128A>G (p.His43Arg)	DSG2 (H43R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 2113129	NM_001943.5(DSG2):c.130T>G (p.Leu44Val)	DSG2 (L44V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 1769878	NM_001943.5(DSG2):c.131T>C (p.Leu44Ser)	DSG2 (L44S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 863095	NM_001943.5(DSG2):c.136C>T (p.Arg46Trp)	DSG2 (R46W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 16812	NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)	DSG2 (R46Q)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 3654788	NM_001943.5(DSG2):c.138G>A (p.Arg46=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1142707	NM_001943.5(DSG2):c.138G>T (p.Arg46=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GConflicting classifications of pathogenicity
Select item 3069694	NM_001943.5(DSG2):c.141A>G (p.Gln47=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely benign
Select item 924952	NM_001943.5(DSG2):c.143A>G (p.Lys48Arg)	DSG2 (K48R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 466331	NM_001943.5(DSG2):c.145C>A (p.Arg49Ser)	DSG2 (R49S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 450040	NM_001943.5(DSG2):c.145C>T (p.Arg49Cys)	DSG2 (R49C)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 16810	NM_001943.5(DSG2):c.146G>A (p.Arg49His)	DSG2 (R49H)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GPathogenic/Likely pathogenic
Select item 326472	NM_001943.5(DSG2):c.147C>T (p.Arg49=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 2058090	NM_001943.5(DSG2):c.148G>C (p.Ala50Pro)	DSG2 (A50P)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 1483381	NM_001943.5(DSG2):c.148G>T (p.Ala50Ser)	DSG2 (A50S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 925861	NM_001943.5(DSG2):c.148G>A (p.Ala50Thr)	DSG2 (A50T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 420241	NM_001943.5(DSG2):c.151T>C (p.Trp51Arg)	DSG2 (W51R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 199796	NM_001943.5(DSG2):c.152G>C (p.Trp51Ser)	DSG2 (W51S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 44282	NM_001943.5(DSG2):c.152G>T (p.Trp51Leu)	DSG2 (W51L)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 2785497	NM_001943.5(DSG2):c.154A>T (p.Ile52Phe)	DSG2 (I52F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 2113732	NM_001943.5(DSG2):c.156C>T (p.Ile52=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign
Select item 1389019	NM_001943.5(DSG2):c.158C>G (p.Thr53Ser)	DSG2 (T53S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10	GUncertain significance
Select item 3659967	NM_001943.5(DSG2):c.159C>A (p.Thr53=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10	GLikely benign

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