"Color Diagnostics, LLC DBA Color Health"[submitter] AND "DSG2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 163198	NM_001943.5(DSG2):c.-15G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 922399	NM_001943.5(DSG2):c.-12G>A	LOC130062340, DSG2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 178664	NM_001943.5(DSG2):c.-11G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 926635	NM_001943.5(DSG2):c.-3G>A	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 1171237	NM_001943.5(DSG2):c.-2C>T	LOC130062340, DSG2	Single nucleotide variant (5 prime UTR variant)	Cardiomyopathy	GUncertain significance
Select item 510690	NM_001943.5(DSG2):c.-1G>C	DSG2, LOC130062340	Single nucleotide variant (5 prime UTR variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 1172391	NM_001943.5(DSG2):c.1A>T (p.Met1Leu)	LOC130062340, DSG2 (M1L)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 924921	NM_001943.5(DSG2):c.1A>C (p.Met1Leu)	DSG2, LOC130062340 (M1L)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy	GUncertain significance
Select item 1171456	NM_001943.5(DSG2):c.6G>T (p.Ala2=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 137166	NM_001943.5(DSG2):c.6G>A (p.Ala2=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign/Likely benign
Select item 924083	NM_001943.5(DSG2):c.10A>G (p.Ser4Gly)	DSG2, LOC130062340 (S4G)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 326470	NM_001943.5(DSG2):c.15G>C (p.Pro5=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	DSG2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 2085210	NM_001943.5(DSG2):c.20G>C (p.Arg7Pro)	DSG2, LOC130062340 (R7P)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance
Select item 2775202	NM_001943.5(DSG2):c.21C>T (p.Arg7=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 918240	NM_001943.5(DSG2):c.22G>A (p.Ala8Thr)	DSG2, LOC130062340 (A8T)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 629781	NM_001943.5(DSG2):c.30C>A (p.Ala10=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Cardiomyopathy +1 more	GLikely benign
Select item 762484	NM_001943.5(DSG2):c.31C>T (p.Leu11=)	DSG2, LOC130062340	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GLikely benign
Select item 920722	NM_001943.5(DSG2):c.37C>T (p.Leu13Phe)	DSG2, LOC130062340 (L13F)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 628323	NM_001943.5(DSG2):c.38T>G (p.Leu13Arg)	DSG2, LOC130062340 (L13R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GUncertain significance
Select item 44318	NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)	DSG2, LOC130062340 (L15Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 925437	NM_001943.5(DSG2):c.45+1G>T	DSG2, LOC130062340	Single nucleotide variant (splice donor variant)	Cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 923077	NM_001943.5(DSG2):c.45+6T>C	DSG2, LOC130062340	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 2142724	NM_001943.5(DSG2):c.46-14A>G	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +2 more	GUncertain significance
Select item 514432	NM_001943.5(DSG2):c.46-3C>T	DSG2	Single nucleotide variant (intron variant)	not specified +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)	Cardiomyopathy	GUncertain significance
Select item 426374	NM_001943.5(DSG2):c.46A>G (p.Ile16Val)	DSG2 (I16V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 926324	NM_001943.5(DSG2):c.47T>C (p.Ile16Thr)	DSG2 (I16T)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	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)	Cardiovascular phenotype +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 629173	NM_001943.5(DSG2):c.73C>T (p.His25Tyr)	DSG2 (H25Y)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
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)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GLikely benign
Select item 919705	NM_001943.5(DSG2):c.82-4A>G	DSG2	Single nucleotide variant (intron variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 922662	NM_001943.5(DSG2):c.82-3T>C	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +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 44327	NM_001943.5(DSG2):c.84C>G (p.Val28=)	DSG2	Single nucleotide variant (synonymous variant)	DSG2-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1332567	NM_001943.5(DSG2):c.90C>G (p.Ser30Arg)	DSG2 (S30R)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 199795	NM_001943.5(DSG2):c.98A>G (p.Asn33Ser)	DSG2 (N33S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +4 more	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 419925	NM_001943.5(DSG2):c.121C>A (p.His41Asn)	DSG2 (H41N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GLikely benign
Select item 659450	NM_001943.5(DSG2):c.122A>T (p.His41Leu)	DSG2 (H41L)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 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)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 16812	NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)	DSG2 (R46Q)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 924952	NM_001943.5(DSG2):c.143A>G (p.Lys48Arg)	DSG2 (K48R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GUncertain significance
Select item 450040	NM_001943.5(DSG2):c.145C>T (p.Arg49Cys)	DSG2 (R49C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 326472	NM_001943.5(DSG2):c.147C>T (p.Arg49=)	DSG2	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 929896	NM_001943.5(DSG2):c.160G>A (p.Ala54Thr)	DSG2 (A54T)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 518924	NM_001943.5(DSG2):c.165C>T (p.Pro55=)	DSG2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 16818	NM_001943.5(DSG2):c.166G>A (p.Val56Met)	DSG2 (V56M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +7 more	GConflicting classifications of pathogenicity
Select item 1450880	NM_001943.5(DSG2):c.170C>T (p.Ala57Val)	DSG2 (A57V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GUncertain significance
Select item 915834	NM_001943.5(DSG2):c.172C>G (p.Leu58Val)	DSG2 (L58V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 451391	NM_001943.5(DSG2):c.175C>T (p.Arg59Trp)	DSG2 (R59W)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 629636	NM_001943.5(DSG2):c.176G>A (p.Arg59Gln)	DSG2 (R59Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +3 more	GUncertain significance
Select item 629466	NM_001943.5(DSG2):c.177G>C (p.Arg59=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 1171538	NM_001943.5(DSG2):c.196A>G (p.Lys66Glu)	DSG2 (K66E)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 1332531	NM_001943.5(DSG2):c.204T>G (p.Asn68Lys)	DSG2 (N68K)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 263501	NM_001943.5(DSG2):c.208A>G (p.Ile70Val)	DSG2 (I70V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +6 more	GUncertain significance
Select item 925490	NM_001943.5(DSG2):c.216G>T (p.Lys72Asn)	DSG2 (K72N)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 199797	NM_001943.5(DSG2):c.216+3A>C	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +5 more	GUncertain significance
Select item 1171500	NM_001943.5(DSG2):c.216+8del	DSG2	Deletion (intron variant)	Cardiomyopathy	GLikely benign
Select item 44296	NM_001943.5(DSG2):c.217-5G>T	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular dysplasia 10 +4 more	GBenign/Likely benign
Select item 2775205	NM_001943.5(DSG2):c.217-4T>G	DSG2	Single nucleotide variant (intron variant)	Cardiomyopathy	GUncertain significance
Select item 1332180	NM_001943.5(DSG2):c.217-2A>G	DSG2	Single nucleotide variant (splice acceptor variant)	Cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 199798	NM_001943.5(DSG2):c.220C>A (p.His74Asn)	DSG2 (H74N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 227340	NM_001943.5(DSG2):c.221A>G (p.His74Arg)	DSG2 (H74R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 44299	NM_001943.5(DSG2):c.222T>C (p.His74=)	DSG2	Single nucleotide variant (synonymous variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GLikely benign
Select item 921885	NM_001943.5(DSG2):c.233C>A (p.Ala78Glu)	DSG2 (A78E)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 926902	NM_001943.5(DSG2):c.238G>A (p.Glu80Lys)	DSG2 (E80K)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 925836	NM_001943.5(DSG2):c.244G>A (p.Gly82Arg)	DSG2 (G82R)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +1 more	GUncertain significance
Select item 1332630	NM_001943.5(DSG2):c.250A>C (p.Lys84Gln)	DSG2 (K84Q)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 925370	NM_001943.5(DSG2):c.259T>C (p.Tyr87His)	DSG2 (Y87H)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 922854	NM_001943.5(DSG2):c.261C>A (p.Tyr87Ter)	DSG2 (Y87*)	Single nucleotide variant (nonsense)	Cardiomyopathy	GUncertain significance
Select item 44306	NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys)	DSG2 (Y89C)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 326474	NM_001943.5(DSG2):c.269C>T (p.Thr90Ile)	DSG2 (T90I)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +5 more	GConflicting classifications of pathogenicity
Select item 263740	NM_001943.5(DSG2):c.273A>G (p.Gly91=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GLikely benign
Select item 921521	NM_001943.5(DSG2):c.287A>T (p.Glu96Val)	DSG2 (E96V)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 626838	NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr)	DSG2 (F99Y)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 918433	NM_001943.5(DSG2):c.297T>C (p.Phe99=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1172177	NM_001943.5(DSG2):c.299G>A (p.Gly100Asp)	DSG2 (G100D)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 924023	NM_001943.5(DSG2):c.303A>G (p.Ile101Met)	DSG2 (I101M)	Single nucleotide variant (missense variant)	Cardiomyopathy +1 more	GUncertain significance
Select item 932224	NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr)	DSG2 (F102Y)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 228627	NM_001943.5(DSG2):c.308T>C (p.Val103Ala)	DSG2 (V103A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 925915	NM_001943.5(DSG2):c.314A>G (p.Asn105Ser)	DSG2 (N105S)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 921107	NM_001943.5(DSG2):c.320A>G (p.Asp107Gly)	DSG2 (D107G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 924200	NM_001943.5(DSG2):c.352dup (p.Asp118fs)	DSG2 (D118fs)	Duplication (frameshift variant)	Cardiomyopathy	GUncertain significance
Select item 1171153	NM_001943.5(DSG2):c.355C>T (p.Arg119Ter)	DSG2 (R119*)	Single nucleotide variant (nonsense)	Arrhythmogenic right ventricular cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 466341	NM_001943.5(DSG2):c.356G>A (p.Arg119Gln)	DSG2 (R119Q)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +3 more	GUncertain significance
Select item 1332642	NM_001943.5(DSG2):c.363A>G (p.Glu121=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiomyopathy	GLikely benign
Select item 921626	NM_001943.5(DSG2):c.367C>T (p.Pro123Ser)	DSG2 (P123S)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 10 +1 more	GUncertain significance
Select item 747445	NM_001943.5(DSG2):c.379-4T>C	DSG2	Single nucleotide variant (intron variant)	Arrhythmogenic right ventricular cardiomyopathy +2 more	GLikely benign
Select item 391597	NM_001943.5(DSG2):c.379-3C>T	DSG2	Single nucleotide variant (intron variant)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 1172051	NM_001943.5(DSG2):c.389A>G (p.Tyr130Cys)	DSG2 (Y130C)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance
Select item 326475	NM_001943.5(DSG2):c.390C>T (p.Tyr130=)	DSG2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 44316	NM_001943.5(DSG2):c.391G>A (p.Ala131Thr)	DSG2 (A131T)	Single nucleotide variant (missense variant)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 918710	NM_001943.5(DSG2):c.403A>G (p.Arg135Gly)	DSG2 (R135G)	Single nucleotide variant (missense variant)	Cardiomyopathy	GUncertain significance

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