All variants in the DSC2 gene

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

495 entries on 5 pages. Showing entries 1 - 100.
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Effect     

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     
?/. - 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 c.-58G>A r.(?) p.(=) - - benign g.28681992C>T g.31102029C>T - - DSC2_000061 - unpublished, ARVD/C database 8131 - - Germline - - - 0 - Paul van der Zwaag
-/- 2 c.-36C>G r.(?) p.(=) - - benign g.28681970G>C g.31102007G>C - - DSC2_000062 - unpublished, ARVD/C database 7600 - - Germline - - - 0 - Paul van der Zwaag
?/? 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D - - - DSC2_000065 DNA change not specified unpublished, ARVD/C database 8146 - - Germline - - - 0 - Paul van der Zwaag
?/. - c.2T>A r.(?) p.(Met1?) - ACMG VUS g.28681933A>T g.31101970A>T - - DSC2_000245 this variant was detected as an incidental finding, but not reported back to the individual. Reason: start lost variant not a known pathomechanism in DSC2 - - - Germline ? - - - - Andreas Laner
+/+ 1 c.4G>A r.(?) p.(Glu2Lys) Signal peptide - pathogenic g.28681931C>T g.31101968C>T - - DSC2_000063 - unpublished, ARVD/C database 8092 - - Germline - - - 0 - Paul van der Zwaag
-?/. - c.4G>A r.(?) p.(Glu2Lys) - - likely benign 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.4G>A r.(?) p.(Glu2Lys) - - VUS g.28681931C>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 - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.4G>A r.(?) p.(Glu2Lys) - - VUS g.28681931C>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 - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.21dup r.(?) p.(Gly8ArgfsTer23) - - likely pathogenic g.28681915dup g.31101952dup - - DSC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 c.23G>T r.(?) p.(Gly8Val) Signal peptide - VUS g.28681912C>A g.31101949C>A - - DSC2_000064 - unpublished, ARVD/C database 8244 - - Germline - - - 0 - Paul van der Zwaag
?/. - c.23G>T r.(?) p.(Gly8Val) - - VUS g.28681912C>A g.31101949C>A DSC2(NM_004949.3):c.23G>T (p.G8V) - DSC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.23G>T r.(?) p.(Gly8Val) - - likely benign g.28681912C>A g.31101949C>A DSC2(NM_004949.3):c.23G>T (p.G8V) - DSC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.23G>T r.(?) p.(Gly8Val) - - likely benign g.28681912C>A g.31101949C>A DSC2(NM_004949.3):c.23G>T (p.G8V) - DSC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.32A>G r.(?) p.(Asn11Ser) - - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.32A>G r.(?) p.(Asn11Ser) - - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.32A>G r.(?) p.(Asn11Ser) - - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.32A>G r.(?) p.(Asn11Ser) - - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/- 1 c.32A>G r.(?) p.(Asn11Ser) signal peptide - benign g.28681903T>C g.31101940T>C - - DSC2_000001 - PubMed: den Haan, ARVD/C database 7521 - rs868333 Germline - - - 0 - Paul van der Zwaag
-/. - c.32A>G r.(?) p.(Asn11Ser) - - 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.32A>G r.(?) p.(Asn11Ser) - - benign g.28681903T>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 - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.34G>A r.(?) p.(Gly12Arg) - - likely benign 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_AMC
?/. - c.34G>A r.(?) p.(Gly12Arg) - - 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
+?/. - c.34G>T r.(?) p.(Gly12*) - ACMG likely pathogenic g.28681901C>A g.31101938C>A - - DSC2_000244 this variant was detected and reported as an incidental finding - - - Germline ? - - - - Andreas Laner
+?/. - c.34G>T r.(?) p.(Gly12Ter) - - likely pathogenic g.28681901C>A - DSC2(NM_004949.3):c.34G>T (p.G12*) - DSC2_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - 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_Nijmegen
-/. - 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
-/- 1i c.69+30del r.(?) p.(=) - - benign g.28681839del g.31101876del 69+30delG - DSC2_000066 - unpublished, ARVD/C database 8132 - - Germline - - - 0 - Paul van der Zwaag
-?/. - 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
-/. - 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 - - - 0 - VKGL-NL_AMC
-/. - 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 - - - 0 - VKGL-NL_Utrecht
?/. - 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 - - - 0 - VKGL-NL_AMC
+/+ 2 c.96del r.(?) p.(Cys32*) propeptide - pathogenic g.28673580del g.31093617del 96delC - DSC2_000054 - PubMed: Barahona-Dussault, ARVD/C database 7965 - - Germline - - - 0 - Paul van der Zwaag
-/. - c.111A>G r.(?) p.(Leu37=) - - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.111A>G r.(?) p.(Leu37=) - - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.111A>G r.(?) p.(Leu37=) - - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.111A>G r.(?) p.(Leu37=) - - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/- 2 c.111A>G r.(?) p.(=) propeptide - benign g.28673565T>C g.31093602T>C - - DSC2_000002 - PubMed: Posch, ARVD/C database 7522 - - Germline - - - 0 - Paul van der Zwaag
-/. - c.111A>G r.(?) p.(Leu37=) - - 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 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 - - - 0 - Paul van der Zwaag
+/+ 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 - - - 0 - Paul van der Zwaag
?/. - c.136G>A r.(?) p.(Glu46Lys) - - VUS g.28673540C>T g.31093577C>T DSC2(NM_004949.3):c.136G>A (p.E46K) - DSC2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/? 2 c.136G>A r.(?) p.(Glu46Lys) propeptide - VUS g.28673540C>T g.31093577C>T - - DSC2_000067 - unpublished, ARVD/C database 8007 - - Germline - - - 0 - Paul van der Zwaag
-?/. - c.136G>A r.(?) p.(Glu46Lys) - - likely benign g.28673540C>T - DSC2(NM_004949.3):c.136G>A (p.E46K) - DSC2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - 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
-?/. - 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 - - - 0 - VKGL-NL_AMC
-?/. - c.172T>G r.(?) p.(Phe58Val) - - likely benign g.28672246A>C g.31092283A>C DSC2(NM_004949.3):c.172T>G (p.F58V) - DSC2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/? 3 c.172T>G r.(?) p.(Phe58Val) propeptide - VUS g.28672246A>C g.31092283A>C - - DSC2_000068 - unpublished, ARVD/C database 8077 - - Germline - - - 0 - Paul van der Zwaag
-?/. - c.172T>G r.(?) p.(Phe58Val) - - likely benign g.28672246A>C g.31092283A>C DSC2(NM_004949.3):c.172T>G (p.F58V) - DSC2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.199A>G r.(?) p.(Ser67Gly) - - VUS g.28672219T>C g.31092256T>C - - DSC2_000260 - PubMed: Walsh 2017 - - Germline - 1/351 cases - 0 - Johan den Dunnen
?/? 3 c.210C>A r.(?) p.(Asp70Glu) propeptide - VUS g.28672208G>T g.31092245G>T - - DSC2_000032 - unpublished, ARVD/C database 7785 - - Germline - - - 0 - Paul van der Zwaag
?/. - c.210C>A r.(?) p.(Asp70Glu) - - VUS g.28672208G>T g.31092245G>T DSC2(NM_004949.3):c.210C>A (p.D70E) - DSC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - 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
+/+ 3 c.229G>A r.(?) p.(Gly77Ser) propeptide - pathogenic g.28672189C>T g.31092226C>T - - DSC2_000069 - unpublished, ARVD/C database 8349 - - Germline - - - 0 - Paul van der Zwaag
?/. - c.266C>T r.(?) p.(Ser89Leu) - - VUS g.28672152G>A g.31092189G>A NM_004949:c.C266T - DSC2_000070 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - Johan den Dunnen
?/. - c.266C>T r.(?) p.(Ser89Leu) - - VUS g.28672152G>A g.31092189G>A DSC2(NM_004949.3):c.266C>T (p.S89L) - DSC2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/? 3 c.266C>T r.(?) p.(Ser89L) propeptide - VUS g.28672152G>A g.31092189G>A - - DSC2_000070 - unpublished, ARVD/C database 8251 - - Germline - - - 0 - Paul van der Zwaag
-?/. - c.266C>T r.(?) p.(Ser89Leu) - - likely benign g.28672152G>A g.31092189G>A DSC2(NM_004949.3):c.266C>T (p.S89L) - DSC2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.270G>A r.(?) p.(Glu90=) - - 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 - - - 0 - VKGL-NL_AMC
-?/. - c.270G>A r.(?) p.(Glu90=) - - 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 - - - 0 - VKGL-NL_Groningen
-?/. - c.270G>A r.(?) p.(Glu90=) - - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - c.270G>A r.(?) p.(Glu90=) - - 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 - - - 0 - VKGL-NL_Rotterdam
-?/. - c.270G>A r.(?) p.(Glu90=) - - 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_Nijmegen
?/? 3 c.271_272insCAAT r.(?) p.(Lys91Thrfs*13) propeptide - VUS g.28672146_28672147insATTG g.31092183_31092184insATTG - - DSC2_000071 - unpublished, ARVD/C database 8407 - - Germline - - - 0 - Paul van der Zwaag
?/. - 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 - - - 0 - VKGL-NL_AMC
+/+ 3 c.287T>C r.(?) p.(Ile96Thr) propeptide - pathogenic g.28672131A>G g.31092168A>G - - DSC2_000072 - unpublished, ARVD/C database 8350 - - Germline - - - 0 - Paul van der Zwaag
-?/. - 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
?/. - c.304G>A r.(?) p.(Glu102Lys) - - VUS g.28672114C>T g.31092151C>T NM_004949:c.G304A - DSC2_000003 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - Johan den Dunnen
?/. - c.304G>A r.(?) p.(Glu102Lys) - - VUS g.28672114C>T g.31092151C>T NM_004949:c.G304A - DSC2_000003 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - 0 - Johan den Dunnen
-?/. - c.304G>A r.(?) p.(Glu102Lys) - - likely benign g.28672114C>T g.31092151C>T DSC2(NM_004949.3):c.304G>A (p.E102K), DSC2(NM_024422.4):c.304G>A (p.E102K) - DSC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.304G>A r.(?) p.(Glu102Lys) - - likely benign g.28672114C>T g.31092151C>T DSC2(NM_004949.3):c.304G>A (p.E102K), DSC2(NM_024422.4):c.304G>A (p.E102K) - DSC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/? 3 c.304G>A r.(?) p.(Glu102Lys) propeptide - pathogenic g.28672114C>T g.31092151C>T - - DSC2_000003 - PubMed: Beffagna, PubMed: De Bortoli, Rampazzo 2008 (escardio.org ID24 4371), ARVD/C database 7523 - - Germline - - - 0 - Paul van der Zwaag
-?/. - c.304G>A r.(?) p.(Glu102Lys) - - likely benign g.28672114C>T g.31092151C>T DSC2(NM_004949.3):c.304G>A (p.E102K), DSC2(NM_024422.4):c.304G>A (p.E102K) - DSC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.304G>A r.(?) p.(Glu102Lys) - - likely benign g.28672114C>T g.31092151C>T DSC2(NM_004949.3):c.304G>A (p.E102K), DSC2(NM_024422.4):c.304G>A (p.E102K) - DSC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.327A>G r.(?) p.(Ile109Met) - - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.327A>G r.(?) p.(Ile109Met) - - 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 - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/? 3 c.327A>G r.(?) p.(Ile109Met) propeptide - VUS g.28672091T>C g.31092128T>C - - DSC2_000073 - unpublished, ARVD/C database 8254 - - Germline - - - 0 - Paul van der Zwaag
-?/. - c.327A>G r.(?) p.(Ile109Met) - - likely benign 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 - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 3 c.341del r.(?) p.(Glu114Glyfs*7) propeptide - pathogenic g.28672077del g.31092114del - - DSC2_000074 - unpublished, ARVD/C database 8044 - - Germline - - - 0 - Paul van der Zwaag
-/. - c.348A>G r.(?) p.(Gln116=) - - 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 - - - 0 - VKGL-NL_AMC
-?/. - c.348A>G r.(?) p.(Gln116=) - - 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
-?/. - c.348A>G r.(?) p.(Gln116=) - - 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_Nijmegen
-/. - c.351A>G r.(?) p.(Thr117=) - - benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.351A>G r.(?) p.(Thr117=) - - benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.351A>G r.(?) p.(Thr117=) - - likely benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.351A>G r.(?) p.(Thr117=) - - benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/- 3 c.351A>G r.(?) p.(=) propeptide - benign g.28672067T>C g.31092104T>C - - DSC2_000004 - PubMed: Posch, ARVD/C database 7605 - - Germline - - - 0 - Paul van der Zwaag
-/. - c.351A>G r.(?) p.(Thr117=) - - benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.351A>G r.(=) p.(=) - - VUS g.28672067T>C g.31092104T>C - - DSC2_000004 conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117812913 Germline - 12/2795 individuals - 0 - Mohammed Faruq
-?/. - 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 - - - 0 - VKGL-NL_Utrecht
-?/. - 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 - - - 0 - VKGL-NL_Groningen
-?/. - 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
-/. - c.370C>T r.(?) p.(His124Tyr) - - benign 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_AMC
?/. - c.370C>T r.(?) p.(His124Tyr) - - 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
?/. - c.394C>T r.(?) p.(Arg132Cys) - - VUS g.28671071G>A g.31091108G>A DSC2(NM_004949.3):c.394C>T (p.R132C) - DSC2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/+ 3 c.394C>T r.(?) p.(Arg132Cys) propeptide - pathogenic g.28671071G>A g.31091108G>A - - DSC2_000075 - unpublished, ARVD/C database 8045 - - Germline - - - 0 - Paul van der Zwaag
?/. - c.394C>T r.(?) p.(Arg132Cys) - - VUS g.28671071G>A g.31091108G>A DSC2(NM_004949.3):c.394C>T (p.R132C) - DSC2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.394C>T r.(?) p.(Arg132Cys) - ACMG VUS g.28671071G>A g.31091108G>A - - DSC2_000075 - PubMed: Isbister 2020 - - Germline - - - 0 - Johan den Dunnen
-?/. - 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 - - - 0 - VKGL-NL_Groningen
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