Full data view for gene DSG2

Information The variants shown are described using the NM_001943.3 transcript reference sequence.

750 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-55G>C r.(?) p.(=) - Unknown - likely benign g.29078160G>C g.31498197G>C - - DSG2_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 1 c.-51G>C r.(?) p.(=) - Unknown - benign g.29078164G>C - - - DSG2_000001 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. unpublished, ARVD/C database 7599 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
-/? 1 c.-36G>C r.(?) p.(=) - Unknown - benign g.29078179G>C - - - DSG2_000002 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Posch, ARVD/C database 7600 - - Germline - - - - - DNA SEQ - - ? - PubMed: Posch - - - - - - - - - 1 Paul van der Zwaag
?/. - c.-6G>A r.(?) p.(=) - Unknown - VUS g.29078209G>A g.31498246G>A DSG2(NM_001943.3):c.-6G>A - DSG2_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5del r.(?) p.(=) - Unknown - VUS g.29078210del g.31498247del DSG2(NM_001943.5):c.-5delG - DSG2_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3G>A r.(?) p.(Met1?) - Unknown ACMG likely pathogenic g.29078217G>A g.31498254G>A - - DSG2_000371 this variant was detected and reported as an incidental finding - - - Germline ? - - - - DNA SEQ-NG-I - - HNPP 159421 - - M ? - - - - - - 1 Andreas Laner
+/+ 1 c.3G>C r.(?) p.0 - Unknown - pathogenic g.29078217G>C g.31498254G>C - - DSG2_000003 predicted abolition of translation initiation PubMed: Syrris, ARVD/C database 7537 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Syrris - - - - - - - - - 5 Paul van der Zwaag
-/. - c.6G>A r.(?) p.(Ala2=) - Unknown - benign g.29078220G>A g.31498257G>A DSG2(NM_001943.3):c.6G>A (p.A2=), DSG2(NM_001943.5):c.6G>A (p.A2=) - DSG2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6G>A r.(?) p.(Ala2=) - Unknown - likely benign g.29078220G>A g.31498257G>A DSG2(NM_001943.3):c.6G>A (p.A2=), DSG2(NM_001943.5):c.6G>A (p.A2=) - DSG2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.6G>A r.(?) p.(Ala2=) - Unknown - benign g.29078220G>A g.31498257G>A DSG2(NM_001943.3):c.6G>A (p.A2=), DSG2(NM_001943.5):c.6G>A (p.A2=) - DSG2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.6G>A r.(?) p.(Ala2=) - Unknown - VUS g.29078220G>A g.31498257G>A - - DSG2_000094 - unpublished, ARVD/C database 8245 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
-/. - c.6G>A r.(?) p.(Ala2=) - Unknown - benign g.29078220G>A g.31498257G>A DSG2(NM_001943.3):c.6G>A (p.A2=), DSG2(NM_001943.5):c.6G>A (p.A2=) - DSG2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.6G>A r.(?) p.(Ala2=) - Unknown - likely benign g.29078220G>A g.31498257G>A DSG2(NM_001943.3):c.6G>A (p.A2=), DSG2(NM_001943.5):c.6G>A (p.A2=) - DSG2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.10A>G r.(?) p.(Ser4Gly) - Unknown - likely benign g.29078224A>G g.31498261A>G DSG2(NM_001943.3):c.10A>G (p.S4G) - DSG2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.13C>G r.(?) p.(Pro5Ala) - Unknown - likely benign g.29078227C>G g.31498264C>G - - DSG2_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15G>C r.(?) p.(Pro5=) - Unknown - likely benign g.29078229G>C - DSG2(NM_001943.3):c.15G>C (p.P5=) - DSG2_000395 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.18A>T r.(?) p.(Gly6=) - Unknown - likely benign g.29078232A>T g.31498269A>T - - DSG2_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.36G>A r.(?) p.(Leu12=) - Unknown - benign g.29078250G>A g.31498287G>A DSG2(NM_001943.5):c.36G>A (p.L12=) - DSG2_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.40C>T r.(?) p.(Leu14Phe) - Unknown - likely benign g.29078254C>T - - - DSG2_000420 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.44T>A r.(?) p.(Leu15Gln) - Unknown - likely benign g.29078258T>A g.31498295T>A DSG2(NM_001943.3):c.44T>A (p.L15Q, p.(Leu15Gln)), DSG2(NM_001943.5):c.44T>A (p.L15Q) - DSG2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.44T>A r.(?) p.(Leu15Gln) - Unknown - likely benign g.29078258T>A g.31498295T>A DSG2(NM_001943.3):c.44T>A (p.L15Q, p.(Leu15Gln)), DSG2(NM_001943.5):c.44T>A (p.L15Q) - DSG2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.44T>A r.(?) p.(Leu15Gln) - Unknown - likely benign g.29078258T>A g.31498295T>A DSG2(NM_001943.3):c.44T>A (p.L15Q, p.(Leu15Gln)), DSG2(NM_001943.5):c.44T>A (p.L15Q) - DSG2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.44T>A r.(?) p.(Leu15Gln) Signal peptide Unknown - VUS g.29078258T>A g.31498295T>A - - DSG2_000004 - PubMed: Bhuiyan, ARVD/C database 7633 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Bhuiyan - - - - - - - - - 1 Paul van der Zwaag
-?/. - c.44T>A r.(?) p.(Leu15Gln) - Unknown - likely benign g.29078258T>A g.31498295T>A DSG2(NM_001943.3):c.44T>A (p.L15Q, p.(Leu15Gln)), DSG2(NM_001943.5):c.44T>A (p.L15Q) - DSG2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45+9C>G r.(=) p.(=) - Unknown - benign g.29078268C>G - DSG2(NM_001943.5):c.45+9C>G - DSG2_000439 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45+10G>T r.(=) p.(=) - Unknown - likely benign g.29078269G>T g.31498306G>T DSG2(NM_001943.3):c.45+10G>T - DSG2_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45+16G>C r.(=) p.(=) - Unknown - benign g.29078275G>C g.31498312G>C DSG2(NM_001943.3):c.45+16G>C, DSG2(NM_001943.5):c.45+16G>C - DSG2_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45+16G>C r.(=) p.(=) - Unknown - benign g.29078275G>C g.31498312G>C DSG2(NM_001943.3):c.45+16G>C, DSG2(NM_001943.5):c.45+16G>C - DSG2_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45+16G>C r.(=) p.(=) - Unknown - benign g.29078275G>C - DSG2(NM_001943.3):c.45+16G>C, DSG2(NM_001943.5):c.45+16G>C - DSG2_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.45+17G>A r.(=) p.(=) - Unknown - likely benign g.29078276G>A - DSG2(NM_001943.3):c.45+17G>A, DSG2(NM_001943.5):c.45+17G>A - DSG2_000396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45+17G>A r.(=) p.(=) - Unknown - benign g.29078276G>A - DSG2(NM_001943.3):c.45+17G>A, DSG2(NM_001943.5):c.45+17G>A - DSG2_000396 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.45+18G>T r.(=) p.(=) - Unknown - benign g.29078277G>T g.31498314G>T DSG2(NM_001943.5):c.45+18G>T - DSG2_000348 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1i c.45+33G>T r.(?) p.(=) - Unknown - benign g.29078292G>T g.31498329G>T - - DSG2_000064 - unpublished, ARVD/C database 7796 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
-?/. - c.45+36G>A r.(=) p.(=) - Unknown - likely benign g.29078295G>A g.31498332G>A - - DSG2_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1i c.46-36T>C r.(?) p.(=) - Unknown - benign g.29098166T>C g.31518203T>C - - DSG2_000065 - unpublished, ARVD/C database 7798 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
?/? 2 c.57C>T r.(?) p.(Asn19=) - Unknown - VUS g.29098213C>T g.31518250C>T - - DSG2_000095 - unpublished, ARVD/C database 8005 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
?/. - c.73C>T r.(?) p.(His25Tyr) - Unknown - VUS g.29098229C>T g.31518266C>T DSG2(NM_001943.3):c.73C>T (p.H25Y) - DSG2_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.81+1G>C r.spl p.? - Unknown ACMG likely pathogenic g.29098238G>C g.31518275G>C - - DSG2_000369 ACMG PVS1, PM2 - - - Germline ? - - - - DNA SEQ-NG-I - - cardiomyopathy, hypertrophic, early-onset fatal 155461 - patient deceased sudden death, post-mortem analysis ? ? Germany - - - - - 1 Andreas Laner
?/. - c.81+1G>C r.spl? p.? - Unknown ACMG VUS g.29098238G>C - - - DSG2_000369 ACMG: PVS1_m, PM2: class 3 - - - Germline ? - - - - DNA SEQ-NG-I - - SIDS 155460 - submission for publication Schoen et al.; 2021: sudden unexplained death ? ? - - - - - - 1 Andreas Laner
-?/. - c.81+16G>T r.(=) p.(=) - Unknown - likely benign g.29098253G>T g.31518290G>T DSG2(NM_001943.3):c.81+16G>T, DSG2(NM_001943.5):c.81+16G>T - DSG2_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.81+16G>T r.(=) p.(=) - Unknown - VUS g.29098253G>T g.31518290G>T DSG2(NM_001943.3):c.81+16G>T, DSG2(NM_001943.5):c.81+16G>T - DSG2_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.81+16G>T r.(=) p.(=) - Unknown - likely benign g.29098253G>T - DSG2(NM_001943.3):c.81+16G>T, DSG2(NM_001943.5):c.81+16G>T - DSG2_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.81+17A>G r.(=) p.(=) - Unknown - likely benign g.29098254A>G g.31518291A>G DSG2(NM_001943.3):c.81+17A>G, DSG2(NM_001943.5):c.81+17A>G - DSG2_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.81+17A>G r.(=) p.(=) - Unknown - benign g.29098254A>G g.31518291A>G DSG2(NM_001943.3):c.81+17A>G, DSG2(NM_001943.5):c.81+17A>G - DSG2_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2i c.81+86G>A r.(?) p.(=) - Unknown - benign g.29098323G>A g.31518360G>A - - DSG2_000005 - PubMed: Posch, ARVD/C database 7601 - rs2276149 Germline - - - - - DNA SEQ - - ? - PubMed: Posch - - - - - - - - - 1 Paul van der Zwaag
-/. - c.81+86G>A r.(=) p.(=) - Unknown - benign g.29098323G>A g.31518360G>A - - DSG2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.81+108C>T r.(=) p.(=) - Unknown - benign g.29098345C>T g.31518382C>T - - DSG2_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82-17A>G r.(=) p.(=) - Unknown - likely benign g.29099749A>G g.31519786A>G - - DSG2_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82-10A>G r.(=) p.(=) - Unknown - likely benign g.29099756A>G g.31519793A>G DSG2(NM_001943.3):c.82-10A>G - DSG2_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.82-1G>T r.spl? p.? - Unknown - likely pathogenic g.29099765G>T g.31519802G>T DSG2(NM_001943.3):c.82-1G>T - DSG2_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98A>G r.(?) p.(Asn33Ser) - Unknown - VUS g.29099782A>G g.31519819A>G - - DSG2_000380 - PubMed: Walsh 2017 - - Germline - 1/304 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/? 3 c.105T>A r.(?) p.(Asn35Lys) - Unknown - VUS g.29099789T>A g.31519826T>A - - DSG2_000096 - unpublished, ARVD/C database 8345 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
?/. 3 c.121C>A r.(?) p.(His41Asn) - Unknown - VUS g.29099805C>A g.31519842C>A NM_001943:c.C121A - DSG2_000171 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.121C>A r.(?) p.(His41Asn) - Unknown - likely benign g.29099805C>A g.31519842C>A DSG2(NM_001943.5):c.121C>A (p.H41N) - DSG2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121C>A r.(?) p.(His41Asn) - Unknown - likely benign g.29099805C>A - DSG2(NM_001943.5):c.121C>A (p.H41N) - DSG2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.136C>T r.(?) p.(Arg46Trp) - Unknown - VUS g.29099820C>T g.31519857C>T - - DSG2_000097 - unpublished, ARVD/C database 8036 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
+?/. - c.136C>T r.(?) p.(Arg46Trp) - Unknown - likely pathogenic g.29099820C>T g.31519857C>T - - DSG2_000097 - PubMed: Walsh 2017 - - Germline - 1/354 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.137G>A r.(?) p.(Arg46Gln) - Unknown - pathogenic g.29099821G>A g.31519858G>A DSG2(NM_001943.3):c.137G>A (p.R46Q), DSG2(NM_001943.5):c.137G>A (p.R46Q) - DSG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 3 c.137G>A r.(?) p.(Arg46Gln) propeptide Unknown - pathogenic g.29099821G>A g.31519858G>A 134G>A - DSG2_000006 - PubMed: Awad, ARVD/C database 7538 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Awad - - - - - - - - - 2 Paul van der Zwaag
+/+? 3 c.137G>A r.(?) p.(Arg46Gln) propeptide Parent #1 - pathogenic g.29099821G>A g.31519858G>A 134G>A - DSG2_000006 - PubMed: Bhuiyan, ARVD/C database 7538 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Bhuiyan - - - - - - - - - 1 Paul van der Zwaag
+/? 3 c.137G>A r.(?) p.(=) - Unknown - pathogenic g.29099821G>A g.31519858G>A - - DSG2_000006 - - - - Germline - - - - - DNA SEQ - - - - Unpublished - - - - - - - - - - Torsten Bloch Rasmussen
+/? 3 c.137G>A r.(?) p.(Arg46Gln) - Unknown - pathogenic g.29099821G>A g.31519858G>A - - DSG2_000006 - - - - Germline - - - - - DNA SEQ - - - - Unpublished - - - - - - - - - - Torsten Bloch Rasmussen
+/? 3 c.137G>A r.(?) p.(Arg46Gln) - Unknown - pathogenic g.29099821G>A g.31519858G>A - - DSG2_000006 Patient also carries the DSP_c.88G>A, p. Val30Met polymorphism - - - Germline - - - - - DNA SEQ - - - - Unpublished - - - - - - - - - - Torsten Bloch Rasmussen
+/? 3 c.137G>A r.(?) p.(Arg46Gln) - Unknown - pathogenic g.29099821G>A g.31519858G>A - - DSG2_000006 Patient also carries the DSP-c.1778A>G, p.Asn593Ser variant - - - Germline - - - - - DNA SEQ - - - - Unpublished - - - - - - - - - - Torsten Bloch Rasmussen
?/? 3 c.137G>A r.(?) p.(Arg46Gln) propeptide Unknown - VUS g.29099821G>A g.31519858G>A 134G>A - DSG2_000006 - PubMed: Awad et al., PubMed: den Haan et al., PubMed: Bhuiyan et al., ARVD/C database 7538 - - Germline - - - - - DNA SEQ - - - - PubMed: Awad et al., PubMed: den Haan et al., PubMed: Bhuiyan et al. - - - - - - - - - - Lisbeth Noerum Pedersen
+/. - c.137G>A r.(?) p.(Arg46Gln) - Unknown - pathogenic g.29099821G>A g.31519858G>A DSG2(NM_001943.3):c.137G>A (p.R46Q), DSG2(NM_001943.5):c.137G>A (p.R46Q) - DSG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.137G>A r.(?) p.(Arg46Gln) - Unknown - likely pathogenic g.29099821G>A g.31519858G>A Arg46Gln - DSG2_000006 - PubMed: Vissing 2021 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.137G>A r.(?) p.(Arg46Gln) - Unknown - pathogenic g.29099821G>A - DSG2(NM_001943.3):c.137G>A (p.R46Q), DSG2(NM_001943.5):c.137G>A (p.R46Q) - DSG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.137G>A r.(?) p.(Arg46Gln) - Unknown - pathogenic g.29099821G>A - DSG2(NM_001943.3):c.137G>A (p.R46Q), DSG2(NM_001943.5):c.137G>A (p.R46Q) - DSG2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.145C>T r.(?) p.(Arg49Cys) - Unknown - likely pathogenic g.29099829C>T g.31519866C>T DSG2(NM_001943.3):c.145C>T (p.R49C), DSG2(NM_001943.5):c.145C>T (p.R49C) - DSG2_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.145C>T r.(?) p.(Arg49Cys) - Unknown - likely pathogenic g.29099829C>T g.31519866C>T - - DSG2_000303 - PubMed: Walsh 2017 - - Germline - 1/354 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.145C>T r.(?) p.(Arg49Cys) - Unknown - likely pathogenic g.29099829C>T - DSG2(NM_001943.3):c.145C>T (p.R49C), DSG2(NM_001943.5):c.145C>T (p.R49C) - DSG2_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.145C>T r.(?) p.(Arg49Cys) - Unknown - likely pathogenic g.29099829C>T - DSG2(NM_001943.3):c.145C>T (p.R49C), DSG2(NM_001943.5):c.145C>T (p.R49C) - DSG2_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 3 c.146G>A r.(?) p.(Arg49His) propeptide Unknown - pathogenic g.29099830G>A g.31519867G>A 143G>A - DSG2_000007 Compound heterozygote: DSG2 p.Arg49His and p.Trp306X PubMed: Awad, PubMed: den Haan, Xu onlinejacc.org Abs 55/6/587, ARVD/C database 7539 - - Germline - - - - - DNA SEQ - - ARVD/C 20152563-Pat PubMed: Awad, PubMed: den Haan, PubMed: Xu 2010 - - - - - - - - - 1 Paul van der Zwaag
+/+? 3 c.146G>A r.(?) p.(Arg49His) propeptide Unknown - pathogenic g.29099830G>A g.31519867G>A 143G>A - DSG2_000007 - PubMed: Gandjbakhch, ARVD/C database 7539 - - De novo - - - - - DNA SEQ - - ARVD/C - PubMed: Gandjbakhch - - - - - - - - - 1 Paul van der Zwaag
+/? 3 c.146G>A r.(?) p.(Arg49His) propeptide Unknown - pathogenic g.29099830G>A g.31519867G>A - - DSG2_000007 - PubMed: Barahona-Dussault, ARVD/C database 7539 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Barahona-Dussault - - - - - - - - - 1 Paul van der Zwaag
+?/. - c.146G>A r.(?) p.(Arg49His) - Unknown - likely pathogenic g.29099830G>A g.31519867G>A - - DSG2_000007 - PubMed: Walsh 2017 - - Germline - 1/354 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.147C>T r.(?) p.(Arg49=) - Unknown - likely benign g.29099831C>T - DSG2(NM_001943.3):c.147C>T (p.R49=) - DSG2_000408 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.148G>A r.(?) p.(Ala50Thr) - Unknown - likely benign g.29099832G>A g.31519869G>A DSG2(NM_001943.3):c.148G>A (p.A50T), DSG2(NM_001943.5):c.148G>A (p.A50T) - DSG2_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.148G>A r.(?) p.(Ala50Thr) - Unknown - likely benign g.29099832G>A g.31519869G>A DSG2(NM_001943.3):c.148G>A (p.A50T), DSG2(NM_001943.5):c.148G>A (p.A50T) - DSG2_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.166G>A r.(?) p.(Val56Met) - Unknown - VUS g.29099850G>A g.31519887G>A NM_001943:c.G166A - DSG2_000008 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 1/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. 3 c.166G>A r.(?) p.(Val56Met) - Parent #1 - VUS g.29099850G>A g.31519887G>A NM_001943:c.G166A - DSG2_000008 - PubMed: Lopes 2013, Journal: Lopes 2013 - - Germline - 2/223 cases HCM - - - DNA SEQ - - CMH - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
?/? 3 c.166G>A r.(?) p.(Val56Met) Cadherin 1 Unknown - VUS g.29099850G>A g.31519887G>A - - DSG2_000008 - PubMed: Syrris, ARVD/C database 7540 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Syrris - - - - - - - - - 1 Paul van der Zwaag
?/? 3 c.166G>A r.(?) p.(Val56Met) Cadherin 1 Unknown - VUS g.29099850G>A g.31519887G>A - - DSG2_000008 - PubMed: Posch, ARVD/C database 7540 - - Germline - - - - - DNA SEQ - - CMD - PubMed: Posch Susceptibility variation? - - - - - - - - 1 Paul van der Zwaag
?/? 3 c.166G>A r.(?) p.(Val56Met) Cadherin 1 Unknown - VUS g.29099850G>A g.31519887G>A - - DSG2_000008 - PubMed: Bhuiyan, ARVD/C database 7540 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Bhuiyan 1 major OR 2 minor TFC - - - - - - - - 1 Paul van der Zwaag
?/? 3 c.166G>A r.(?) p.(Val56Met) Cadherin 1 Parent #1 - VUS g.29099850G>A g.31519887G>A - - DSG2_000008 Share conclusion that p.Val56Met likely plays a contributory role PubMed: Dalal 2009, PubMed: den Haan, PubMed: Xu 2010, ARVD/C database 7540 - - Germline - - - - - DNA SEQ - - ARVD/C 20152563-Pat14 PubMed: Dalal 2009, PubMed: den Haan, PubMed: Xu 2010 Offspring has different combinations of two of these mutations. Controls were done voor DSG2 mutation only. M - United States - - - - - 4 Paul van der Zwaag
-/. - c.166G>A r.(?) p.(Val56Met) - Unknown - benign g.29099850G>A g.31519887G>A DSG2(NM_001943.3):c.166G>A (p.V56M), DSG2(NM_001943.5):c.166G>A (p.V56M) - DSG2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166G>A r.(?) p.(Val56Met) - Unknown - likely benign g.29099850G>A g.31519887G>A DSG2(NM_001943.3):c.166G>A (p.V56M), DSG2(NM_001943.5):c.166G>A (p.V56M) - DSG2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166G>A r.(?) p.(Val56Met) - Unknown - likely benign g.29099850G>A g.31519887G>A DSG2(NM_001943.3):c.166G>A (p.V56M), DSG2(NM_001943.5):c.166G>A (p.V56M) - DSG2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166G>A r.(?) p.(Val56Met) - Unknown - likely benign g.29099850G>A g.31519887G>A DSG2(NM_001943.3):c.166G>A (p.V56M), DSG2(NM_001943.5):c.166G>A (p.V56M) - DSG2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166G>A r.(?) p.(Val56Met) - Unknown - likely benign g.29099850G>A g.31519887G>A DSG2(NM_001943.3):c.166G>A (p.V56M), DSG2(NM_001943.5):c.166G>A (p.V56M) - DSG2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.166G>A r.(?) p.(Val56Met) - Parent #1 - VUS g.29099850G>A g.31519887G>A - - DSG2_000008 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121913013 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.178G>A r.(?) p.(Glu60Lys) - Unknown - VUS g.29099862G>A g.31519899G>A - - DSG2_000381 - PubMed: Walsh 2017 - - Germline - 1/354 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/? 3 c.182del r.(?) p.(Gly61Glufs*51) - Unknown - VUS g.29099866del g.31519903del 182delG - DSG2_000098 - unpublished, ARVD/C database 8406 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
?/? 3 c.208A>G r.(?) p.(Ile70Val) - Unknown - VUS g.29099892A>G g.31519929A>G - - DSG2_000099 - unpublished, ARVD/C database 8302 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
?/? 3i c.216+2T>C r.spl p.? - Unknown - VUS g.29099902T>C g.31519939T>C - - DSG2_000100 - unpublished, ARVD/C database 8404 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
-/. - c.216+16G>A r.(=) p.(=) - Unknown - benign g.29099916G>A g.31519953G>A DSG2(NM_001943.3):c.216+16G>A, DSG2(NM_001943.5):c.216+16G>A - DSG2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216+16G>A r.(=) p.(=) - Unknown - likely benign g.29099916G>A g.31519953G>A DSG2(NM_001943.3):c.216+16G>A, DSG2(NM_001943.5):c.216+16G>A - DSG2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3i c.217-89G>C r.(?) p.(=) - Unknown - benign g.29100677G>C g.31520714G>C - - DSG2_000066 - unpublished, ARVD/C database 7799 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
-/- 3i c.217-65C>G r.(?) p.(=) - Unknown - benign g.29100701C>G g.31520738C>G - - DSG2_000009 - - - rs2155944 Germline - - - - - - - - - - - - - - - - - - - - - - -
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