Unique variants in the DSC2 gene

Information The variants shown are described using the NM_004949.3 transcript reference sequence.

264 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.-46548G>C r.(?) p.(=) - - VUS g.28728482C>G g.31148519C>G DSC1(NM_004948.3):c.751G>C (p.V251L) - DSC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/- 1 1 c.-58G>A r.(?) p.(=) - - benign g.28681992C>T g.31102029C>T - - DSC2_000061 - unpublished, ARVD/C database 8131 - - Germline - - - - - Paul van der Zwaag
-/- 1 2 c.-36C>G r.(?) p.(=) - - benign g.28681970G>C g.31102007G>C - - DSC2_000062 - unpublished, ARVD/C database 7600 - - Germline - - - - - Paul van der Zwaag
?/? 1 1 c.34G>H r.(?) p.(Gly12Arg) Signal peptide sequence - VUS g.28681901C>D - - - DSC2_000065 DNA change not specified unpublished, ARVD/C database 8146 - - Germline - - - - - Paul van der Zwaag
?/. 1 - c.2T>A r.(?) p.(Met1?) - ACMG VUS g.28681933A>T g.31101970A>T - - DSC2_000245 1 more item - - - Germline ? - - - - Andreas Laner
+/+, -?/., ?/. 4 1 c.4G>A r.(?) p.(Glu2Lys) Signal peptide - likely benign, pathogenic, VUS g.28681931C>T g.31101968C>T DSC2(NM_004949.3):c.4G>A (p.E2K), DSC2(NM_024422.5):c.4G>A (p.E2K) - DSC2_000063 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8092 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.21dup r.(?) p.(Gly8ArgfsTer23) - - likely pathogenic g.28681915dup g.31101952dup - - DSC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/., ?/? 4 1 c.23G>T r.(?) p.(Gly8Val) Signal peptide - likely benign, VUS g.28681912C>A g.31101949C>A DSC2(NM_004949.3):c.23G>T (p.G8V) - DSC2_000064 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8244 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-/-, -/. 7 1 c.32A>G r.(?) p.(Asn11Ser) signal peptide - benign g.28681903T>C g.31101940T>C DSC2(NM_004949.3):c.32A>G (p.N11S, p.(Asn11Ser)), DSC2(NM_024422.4):c.32A>G (p.N11S) - DSC2_000001 VKGL data sharing initiative Nederland PubMed: den Haan, ARVD/C database 7521 - rs868333 CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/., ?/. 2 - c.34G>A r.(?) p.(Gly12Arg) - - likely benign, VUS g.28681901C>T g.31101938C>T DSC2(NM_004949.3):c.34G>A (p.G12R), DSC2(NM_024422.4):c.34G>A (p.G12R) - DSC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 2 - c.34G>T r.(?) p.(Gly12*), p.(Gly12Ter) - ACMG likely pathogenic g.28681901C>A g.31101938C>A DSC2(NM_004949.3):c.34G>T (p.G12*) - DSC2_000244 this variant was detected and reported as an incidental finding, 1 more item - - - CLASSIFICATION record, Germline ? - - - - Andreas Laner, VKGL-NL_Utrecht
-?/. 2 - c.46C>A r.(?) p.(Arg16=) - - likely benign g.28681889G>T g.31101926G>T DSC2(NM_024422.4):c.46C>A (p.R16=) - DSC2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.69+29G>A r.(=) p.(=) - - benign g.28681837C>T g.31101874C>T - - DSC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/- 1 1i c.69+30del r.(?) p.(=) - - benign g.28681839del g.31101876del 69+30delG - DSC2_000066 - unpublished, ARVD/C database 8132 - - Germline - - - - - Paul van der Zwaag
-?/. 1 - c.70-20_70-17del r.(=) p.(=) - - likely benign g.28673625_28673628del g.31093662_31093665del - - DSC2_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.70-11del r.(=) p.(=) - - benign g.28673624del g.31093661del DSC2(NM_004949.3):c.70-11delT - DSC2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.82G>T r.(?) p.(Ala28Ser) - - VUS g.28673594C>A g.31093631C>A DSC2(NM_004949.3):c.82G>T (p.A28S) - DSC2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 2 c.96del r.(?) p.(Cys32*) propeptide - pathogenic g.28673580del g.31093617del 96delC - DSC2_000054 - PubMed: Barahona-Dussault, ARVD/C database 7965 - - Germline - - - - - Paul van der Zwaag
-/-, -/. 6 2 c.111A>G r.(?) p.(=), p.(Leu37=) propeptide - benign g.28673565T>C g.31093602T>C DSC2(NM_004949.3):c.111A>G (p.L37=), DSC2(NM_024422.4):c.111A>G (p.L37=) - DSC2_000002 VKGL data sharing initiative Nederland PubMed: Posch, ARVD/C database 7522 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/+ 2 2 c.133del r.(?) p.(Ala45Profs*10) propeptide - pathogenic g.28673543del g.31093580del 133delG - DSC2_000042 - Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7913 - - Germline - - - - - Paul van der Zwaag
-?/., ?/., ?/? 3 2 c.136G>A r.(?) p.(Glu46Lys) propeptide - likely benign, VUS g.28673540C>T g.31093577C>T DSC2(NM_004949.3):c.136G>A (p.E46K) - DSC2_000067 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8007 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.149G>A r.(?) p.(Gly50Asp) - - VUS g.28673527C>T g.31093564C>T DSC2(NM_004949.3):c.149G>A (p.G50D) - DSC2_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.153A>G r.(?) p.(Arg51=) - - likely benign g.28673523T>C g.31093560T>C DSC2(NM_004949.3):c.153A>G (p.R51=) - DSC2_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/? 3 3 c.172T>G r.(?) p.(Phe58Val) propeptide - likely benign, VUS g.28672246A>C g.31092283A>C DSC2(NM_004949.3):c.172T>G (p.F58V) - DSC2_000068 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8077 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.199A>G r.(?) p.(Ser67Gly) - - VUS g.28672219T>C g.31092256T>C - - DSC2_000260 - PubMed: Walsh 2017 - - Germline - 1/351 cases - - - Johan den Dunnen
?/., ?/? 2 3 c.210C>A r.(?) p.(Asp70Glu) propeptide - VUS g.28672208G>T g.31092245G>T DSC2(NM_004949.3):c.210C>A (p.D70E) - DSC2_000032 VKGL data sharing initiative Nederland unpublished, ARVD/C database 7785 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_AMC
?/. 1 - c.226G>A r.(?) p.(Asp76Asn) - - VUS g.28672192C>T g.31092229C>T DSC2(NM_004949.3):c.226G>A (p.D76N) - DSC2_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+ 1 3 c.229G>A r.(?) p.(Gly77Ser) propeptide - pathogenic g.28672189C>T g.31092226C>T - - DSC2_000069 - unpublished, ARVD/C database 8349 - - Germline - - - - - Paul van der Zwaag
-?/., ?/., ?/? 4 3 c.266C>T r.(?) p.(Ser89L), p.(Ser89Leu) propeptide - likely benign, VUS g.28672152G>A g.31092189G>A DSC2(NM_004949.3):c.266C>T (p.S89L), NM_004949:c.C266T - DSC2_000070 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8251, PubMed: Lopes 2013, Journal: Lopes 2013 - - CLASSIFICATION record, Germline - 1/223 cases HCM - - - Johan den Dunnen, Paul van der Zwaag, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 5 - c.270G>A r.(?) p.(Glu90=) - - benign, likely benign g.28672148C>T g.31092185C>T DSC2(NM_004949.3):c.270G>A (p.E90=), DSC2(NM_024422.4):c.270G>A (p.E90=) - DSC2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/? 1 3 c.271_272insCAAT r.(?) p.(Lys91Thrfs*13) propeptide - VUS g.28672146_28672147insATTG g.31092183_31092184insATTG - - DSC2_000071 - unpublished, ARVD/C database 8407 - - Germline - - - - - Paul van der Zwaag
?/. 1 - c.286A>G r.(?) p.(Ile96Val) - - VUS g.28672132T>C g.31092169T>C DSC2(NM_004949.3):c.286A>G (p.I96V) - DSC2_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 3 c.287T>C r.(?) p.(Ile96Thr) propeptide - pathogenic g.28672131A>G g.31092168A>G - - DSC2_000072 - unpublished, ARVD/C database 8350 - - Germline - - - - - Paul van der Zwaag
-?/. 1 - c.301A>G r.(?) p.(Thr101Ala) - - likely benign g.28672117T>C g.31092154T>C - - DSC2_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/?, -?/., ?/. 7 3 c.304G>A r.(?) p.(Glu102Lys) propeptide - likely benign, pathogenic, VUS g.28672114C>T g.31092151C>T DSC2(NM_004949.3):c.304G>A (p.E102K), DSC2(NM_024422.4):c.304G>A (p.E102K), NM_004949:c.G304A - DSC2_000003 VKGL data sharing initiative Nederland PubMed: Beffagna, PubMed: De Bortoli, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7523, 1 more item - - CLASSIFICATION record, Germline - 1/223 cases HCM - - - Johan den Dunnen, Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/., ?/., ?/? 4 3 c.327A>G r.(?) p.(Ile109Met) propeptide - likely benign, VUS g.28672091T>C g.31092128T>C DSC2(NM_004949.3):c.327A>G (p.I109M), DSC2(NM_024422.4):c.327A>G (p.I109M) - DSC2_000073 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8254 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/+ 1 3 c.341del r.(?) p.(Glu114Glyfs*7) propeptide - pathogenic g.28672077del g.31092114del - - DSC2_000074 - unpublished, ARVD/C database 8044 - - Germline - - - - - Paul van der Zwaag
-/., -?/. 3 - c.348A>G r.(?) p.(Gln116=) - - benign, likely benign g.28672070T>C g.31092107T>C DSC2(NM_004949.3):c.348A>G (p.Q116=), DSC2(NM_024422.4):c.348A>G (p.Q116=) - DSC2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/-, -/., -?/., ?/. 7 3 c.351A>G r.(=), r.(?) p.(=), p.(Thr117=) propeptide - benign, likely benign, VUS g.28672067T>C g.31092104T>C DSC2(NM_004949.3):c.351A>G (p.T117=), DSC2(NM_024422.4):c.351A>G (p.T117=) - DSC2_000004 conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020, PubMed: Posch, ARVD/C database 7605 - rs117812913 CLASSIFICATION record, Germline - 12/2795 individuals - - - Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
-?/. 1 - c.355-272del r.(=) p.(=) - - likely benign g.28671390del g.31091427del DSC2(NM_004949.3):c.355-272delT - DSC2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.355-18C>T r.(=) p.(=) - - likely benign g.28671128G>A g.31091165G>A DSC2(NM_004949.3):c.355-18C>T - DSC2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.355-3G>A r.spl? p.? - - likely benign g.28671113C>T g.31091150C>T - - DSC2_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., ?/. 2 - c.370C>T r.(?) p.(His124Tyr) - - benign, VUS g.28671095G>A g.31091132G>A DSC2(NM_004949.3):c.370C>T (p.H124Y) - DSC2_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+/+, ?/. 4 3 c.394C>T r.(?) p.(Arg132Cys) propeptide ACMG pathogenic, VUS g.28671071G>A g.31091108G>A DSC2(NM_004949.3):c.394C>T (p.R132C) - DSC2_000075 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8045, PubMed: Isbister 2020 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Paul van der Zwaag, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 3 - c.397G>A r.(?) p.(Ala133Thr) - - likely benign g.28671068C>T g.31091105C>T DSC2(NM_004949.3):c.397G>A (p.A133T), DSC2(NM_024422.4):c.397G>A (p.A133T) - DSC2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.408A>G r.(?) p.(Arg136=) - - VUS g.28671057T>C g.31091094T>C DSC2(NM_004949.3):c.408A>G (p.R136=) - DSC2_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.420del r.(?) p.(Pro141LeufsTer5) - - likely pathogenic g.28671046del g.31091083del DSC2(NM_004949.3):c.420delT (p.P141Lfs*5) - DSC2_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.425G>C r.(?) p.(Cys142Ser) - - likely benign g.28671040C>G g.31091077C>G DSC2(NM_004949.3):c.425G>C (p.C142S) - DSC2_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.428C>T r.(?) p.(Ser143Leu) - - VUS g.28671037G>A g.31091074G>A DSC2(NM_024422.4):c.428C>T (p.S143L) - DSC2_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 4 c.449G>C r.(?) p.(Gly150Ala) Cadherin 1 - pathogenic g.28671016C>G g.31091053C>G - - DSC2_000076 - unpublished, ARVD/C database 8093 - - Germline - - - - - Paul van der Zwaag
-?/. 1 - c.474+15C>T r.(=) p.(=) - - likely benign g.28670976G>A g.31091013G>A DSC2(NM_004949.3):c.474+15C>T - DSC2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/- 1 4i c.475-76G>C r.(?) p.(=) - - benign g.28669633C>G g.31089670C>G - - DSC2_000033 - unpublished, ARVD/C database 7786 - - Germline - - - - - Paul van der Zwaag
-/., -?/. 2 - c.475-13A>G r.(=) p.(=) - - benign, likely benign g.28669570T>C g.31089607T>C DSC2(NM_004949.3):c.475-13A>G - DSC2_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.517A>G r.(?) p.(Ile173Val) - - VUS g.28669515T>C g.31089552T>C DSC2(NM_004949.3):c.517A>G (p.I173V) - DSC2_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.527C>T r.(?) p.(Pro176Leu) - - VUS g.28669505G>A - DSC2(NM_024422.5):c.527C>T (p.P176L) - DSC2_000275 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/- 1 5 c.536A>G r.(?) p.(Asp179Gly) Cadherin 1 - benign g.28669496T>C g.31089533T>C - - DSC2_000060 MAF: 2.7% PubMed: De Bortoli, ARVD/C database 7983 - - Germline - - - - - Paul van der Zwaag
-?/. 1 - c.547C>T r.(?) p.(Arg183Trp) - - likely benign g.28669485G>A - - - DSC2_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 5 c.565G>C r.(?) p.(Glu189Gln) Cadherin 1 - pathogenic g.28669467C>G g.31089504C>G - - DSC2_000077 - unpublished, ARVD/C database 8351 - - Germline - - - - - Paul van der Zwaag
-/- 1 5 c.582C>G r.(?) p.(Asn194Lys) Cadherin 1 - benign g.28669450G>C g.31089487G>C - - DSC2_000078 - unpublished, ARVD/C database 8354 - - Germline - - - - - Paul van der Zwaag
+?/. 1 - c.587A>G r.(?) p.(Tyr196Cys) - - likely pathogenic g.28669445T>C g.31089482T>C DSC2(NM_004949.3):c.587A>G (p.Y196C) - DSC2_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.588T>C r.(?) p.(Tyr196=) - - benign, likely benign g.28669444A>G g.31089481A>G DSC2(NM_004949.3):c.588T>C (p.Y196=) - DSC2_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.596G>A r.(?) p.(Arg199His) - - likely benign g.28669436C>T g.31089473C>T DSC2(NM_004949.3):c.596G>A (p.R199H) - DSC2_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 5 c.607C>T r.(?) p.(Arg203Cys) Cadherin 1 - pathogenic g.28669425G>A g.31089462G>A - - DSC2_000080 - unpublished, ARVD/C database 8108 - - Germline - - - - - Paul van der Zwaag
+/+, +?/. 2 5 c.608G>A r.(?) p.(Arg203His) Cadherin 1 - likely pathogenic, pathogenic g.28669424C>T g.31089461C>T DSC2(NM_004949.3):c.608G>A (p.R203H) - DSC2_000079 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8237 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Utrecht
?/. 1 - c.619G>C r.(?) p.(Glu207Gln) - - VUS g.28669413C>G g.31089450C>G - - DSC2_000259 - PubMed: Walsh 2017 - - Germline - 1/351 cases - - - Johan den Dunnen
-/., -?/., ?/? 3 5 c.627T>C r.(?) p.(=), p.(Phe209=) Cadherin 1 - benign, likely benign, VUS g.28669405A>G g.31089442A>G DSC2(NM_004949.3):c.627T>C (p.F209=) - DSC2_000046 Found once in 170 patients, VKGL data sharing initiative Nederland unpublished, ARVD/C database 7925 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.630G>C r.(?) p.(Glu210Asp) - - VUS g.28669402C>G g.31089439C>G - - DSC2_000258 - PubMed: Walsh 2017 - - Germline - 1/351 cases - - - Johan den Dunnen
-?/. 1 - c.630+8C>T r.(=) p.(=) - - likely benign g.28669394G>A - - - DSC2_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/- 1 5i c.631-29C>G r.(?) p.(=) - - benign g.28667805G>C g.31087842G>C - - DSC2_000047 - unpublished, ARVD/C database 7926 - - Germline - - - - - Paul van der Zwaag
-?/. 1 - c.631-15_631-14insA r.(=) p.(=) - - likely benign g.28667790_28667791insT g.31087827_31087828insT DSC2(NM_004949.3):c.631-15_631-14insA - DSC2_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/- 1 5i c.631-13A>G r.(?) p.(=) - - benign g.28667789T>C g.31087826T>C - - DSC2_000005 - PubMed: Posch, ARVD/C database 7606 - - Germline - - - - - Paul van der Zwaag
-/-, -/. 2 5i c.631-13dup r.(=), r.(?) p.(=) - - benign g.28667789dup g.31087826dup 631-13dupA, DSC2(NM_004949.3):c.631-13dupA - DSC2_000082 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8008 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_AMC
-?/. 1 - c.631-12del r.(=) p.(=) - - likely benign g.28667788del - - - DSC2_000248 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.631-11dup r.(=) p.(=) - - likely benign g.28667787dup - - - DSC2_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/? 2 5i c.631-10C>T r.(=), r.(?) p.(=) - - likely benign, VUS g.28667786G>A g.31087823G>A DSC2(NM_004949.3):c.631-10C>T - DSC2_000043 VKGL data sharing initiative Nederland Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7906 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Utrecht
-?/. 1 - c.631-3C>T r.spl? p.? - - likely benign g.28667779G>A - DSC2(NM_024422.5):c.631-3C>T - DSC2_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/+, +/. 4 5i c.631-2A>G r.spl, r.spl? p.(Ile211Metfs*11), p.? Cadherin 1 - pathogenic, pathogenic (dominant) g.28667778T>C g.31087815T>C DSC2(NM_024422.4):c.631-2A>G - DSC2_000006 VKGL data sharing initiative Nederland PubMed: Heuser, ARVD/C database 7524, PubMed: Roman 2020, Journal: Roman 2020 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/+ 1 6 c.658G>A r.(?) p.(Gly220Arg) Cadherin 1 - pathogenic g.28667749C>T g.31087786C>T - - DSC2_000083 - unpublished, ARVD/C database 8089 - - Germline - - - - - Paul van der Zwaag
+/+ 1 6 c.685del r.(?) p.(Leu229*) Cadherin 1 - pathogenic g.28667725del g.31087762del 685delC - DSC2_000084 - unpublished, ARVD/C database 8110 - - Germline - - - - - Paul van der Zwaag
+/? 1 6 c.692T>C r.(?) p.(Ile231Thr) Cadherin 1 - pathogenic g.28667715A>G g.31087752A>G - - DSC2_000055 - PubMed: Barahona-Dussault, ARVD/C database 7966 - - Germline - - - - - Paul van der Zwaag
+/+ 1 6 c.712_714del r.(?) p.(Asp238del) Cadherin 1 - pathogenic g.28667695_28667697del g.31087732_31087734del 712_714delGAT - DSC2_000085 - unpublished, ARVD/C database 8861 - - Germline - - - - - Paul van der Zwaag
?/? 1 6 c.734A>C r.(?) p.(Glu245Ala) Cadherin 2 - VUS g.28667673T>G g.31087710T>G - - DSC2_000086 - unpublished, ARVD/C database 8147 - - Germline - - - - - Paul van der Zwaag
-/. 1 - c.750T>C r.(?) p.(Phe250=) - - benign g.28667657A>G g.31087694A>G DSC2(NM_004949.3):c.750T>C (p.F250=) - DSC2_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.775+6T>C r.(=) p.(=) - - likely benign g.28667626A>G g.31087663A>G - - DSC2_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.775+19A>G r.(=) p.(=) - - benign g.28667613T>C g.31087650T>C DSC2(NM_004949.3):c.775+19A>G - DSC2_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/- 1 6i c.775+91C>G r.(?) p.(=) - - benign g.28667541G>C g.31087578G>C - - DSC2_000007 - - - rs12968498 Germline - - - - - Paul van der Zwaag
-/- 1 6i c.775+92C>T r.(?) p.(=) - - benign g.28667540G>A g.31087577G>A - - DSC2_000008 - - - rs12968497 Germline - - - - - Paul van der Zwaag
-/-, -?/. 2 5i c.776-12T>G r.(=), r.(?) p.(=) - - benign, likely benign g.28666717A>C g.31086754A>C DSC2(NM_024422.5):c.776-12T>G - DSC2_000081 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8859 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Utrecht
-/. 1 - c.776-3T>C r.spl? p.? - - benign g.28666708A>G - DSC2(NM_004949.3):c.776-3T>C - DSC2_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.776-1G>A r.spl? p.? - - VUS g.28666706C>T g.31086743C>T DSC2(NM_004949.3):c.776-1G>A - DSC2_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.783T>G r.(?) p.(Thr261=) - - likely benign g.28666698A>C g.31086735A>C DSC2(NM_004949.3):c.783T>G (p.T261=) - DSC2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.799G>C r.(?) p.(Ala267Pro) - - VUS g.28666682C>G g.31086719C>G - - DSC2_000257 - PubMed: Walsh 2017 - - Germline - 1/304 cases - - - Johan den Dunnen
?/? 1 7 c.799G>T r.(?) p.(Ala267Ser)) - - VUS g.28666682C>A g.31086719C>A - - DSC2_000115 - - - - Germline - - - - - Lisbeth Noerum Pedersen
-?/., ?/., ?/? 5 ? c.802A>G r.(?) p.(Thr268Ala) - - likely benign, VUS g.28666679T>C g.31086716T>C 1 more item - DSC2_000122 VKGL data sharing initiative Nederland Vrijenhoek, submitted - - CLASSIFICATION record, Unknown ? - - - - Terry Vrijenhoek, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/+, +?/. 2 7 c.824C>T r.(?) p.(Thr275Met) Cadherin 2 - likely pathogenic, pathogenic g.28666657G>A g.31086694G>A - - DSC2_000087 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8109 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Nijmegen
?/. 1 - c.835C>T r.(?) p.(Arg279Cys) - - VUS g.28666646G>A g.31086683G>A DSC2(NM_004949.3):c.835C>T (p.R279C) - DSC2_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.836G>A r.(?) p.(Arg279His) - - VUS g.28666645C>T - DSC2(NM_024422.5):c.836G>A (p.R279H) - DSC2_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 4 - c.854T>C r.(?) p.(Ile285Thr) - - VUS g.28666627A>G g.31086664A>G DSC2(NM_004949.3):c.854T>C (p.I285T), DSC2(NM_024422.4):c.854T>C (p.I285T) - DSC2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/., ?/. 2 - c.857G>T r.(?) p.(Gly286Val) - - likely benign, VUS g.28666624C>A g.31086661C>A NM_004949:c.G857T (G299+G31V) - DSC2_000119 VKGL data sharing initiative Nederland PubMed: Lopes 2013, Journal: Lopes 2013 - - CLASSIFICATION record, Germline - 1/223 cases HCM - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/., ?/? 6 7 c.865C>T r.(?) p.(Pro289Ser) Cadherin 2 - VUS g.28666616G>A g.31086653G>A DSC2(NM_004949.3):c.865C>T (p.P289S), DSC2(NM_024422.4):c.865C>T (p.P289S) - DSC2_000009 VKGL data sharing initiative Nederland PubMed: Bhuiyan, ARVD/C database 7525 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
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