Full data view for gene JUP

Information The variants shown are described using the NM_002230.2 transcript reference sequence.

523 entries on 6 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     
-/- 1 c.-88A>G r.(?) p.(=) - Unknown - benign g.39942919T>C g.41786667T>C - - JUP_000001 - PubMed: Koopmann, ARVD/C database 7592 - rs4796702 Germline - - - - - DNA SEQ - - ? - PubMed: Koopmann - - - - - - - - - 1 Paul van der Zwaag
-?/. - c.-9+4C>G r.spl? p.? - Unknown - likely benign g.39942836G>C - JUP(NM_002230.2):c.-9+4C>G - JUP_000278 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1i c.-9+19_-9+20del r.(=) p.(=) - Unknown - benign g.39942822_39942823del g.41786570_41786571del -9+17_-9+18del2 - JUP_000036 - - - rs67537421 Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2C>T r.(?) p.(=) - Unknown - likely benign g.39928108G>A - JUP(NM_001352773.2):c.-2C>T - JUP_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9G>C r.(?) p.(Val3=) - Unknown - likely benign g.39928098C>G g.41771846C>G JUP(NM_002230.4):c.9G>C (p.V3=) - JUP_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.25C>G r.(?) p.(Gln9Glu) - Unknown - VUS g.39928082G>C - JUP(NM_002230.4):c.25C>G (p.Q9E) - JUP_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.35A>G r.(?) p.(Lys12Arg) - Unknown - VUS g.39928072T>C g.41771820T>C - - JUP_000040 - unpublished, ARVD/C database 8135 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
?/. - c.35A>G r.(?) p.(Lys12Arg) - Unknown - VUS g.39928072T>C - JUP(NM_002230.4):c.35A>G (p.K12R) - JUP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56C>T r.(?) p.(Thr19Ile) - Unknown - VUS g.39928051G>A g.41771799G>A JUP(NM_002230.4):c.56C>T (p.T19I) - JUP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.56C>T r.(?) p.(Thr19Ile) N-terminus Unknown - pathogenic g.39928051G>A g.41771799G>A - - JUP_000028 - PubMed: den Haan, ARVD/C database 7875 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: den Haan - - - - - - - - - 1 Paul van der Zwaag
?/. - c.56C>T r.(?) p.(Thr19Ile) - Unknown - VUS g.39928051G>A g.41771799G>A JUP(NM_002230.4):c.56C>T (p.T19I) - JUP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.56C>T r.(?) p.(Thr19Ile) - Unknown - VUS g.39928051G>A - JUP(NM_002230.4):c.56C>T (p.T19I) - JUP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.71C>A r.(?) p.(Ser24*) - Both (homozygous) - VUS g.39928036G>T g.41771784G>T - - JUP_000041 - unpublished, ARVD/C database 8112 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
?/. - c.71C>T r.(?) p.(Ser24Leu) - Unknown - VUS g.39928036G>A - JUP(NM_021991.2):c.71C>T (p.S24L) - JUP_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.84G>A r.(?) p.(=) - Unknown - likely benign g.39928023C>T - JUP(NM_002230.2):c.84G>A (p.S28=) - JUP_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/? 2 c.96C>T r.(?) p.(=) N-terminus Unknown - benign g.39928011G>A g.41771759G>A - - JUP_000002 - - - rs11655659 Germline - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.116_118dup r.(?) p.(Ser39dup) N-terminus Unknown - pathogenic g.39927994_39927996dup g.41771742_41771744dup - - JUP_000003 - PubMed: Asimaki(1), ARVD/C database 7511 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Asimaki(1) autosomal dominant; no cutaneous abnormalities - - - - - - - - 3 Paul van der Zwaag
+/+ 2 c.116_118dup r.(?) p.(Ser39dup) N-terminus Unknown - pathogenic g.39927994_39927996dup g.41771742_41771744dup - - JUP_000003 - PubMed: Asimaki 2009, ARVD/C database 7511 - - Germline - - - - - DNA SEQ - - ARVD/C - PubMed: Asimaki 2009 - - - - - - - - - 1 Paul van der Zwaag
?/. - c.116_118dup r.(?) p.(Ser39dup) - Unknown - VUS g.39927994_39927996dup g.41771742_41771744dup JUP(NM_002230.2):c.116_118dupGCA (p.S39dup), JUP(NM_002230.4):c.116_118dupGCA (p.S39dup) - JUP_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.116_118dup r.(?) p.(Ser39dup) - Unknown - likely pathogenic g.39927994_39927996dup - JUP(NM_002230.2):c.116_118dupGCA (p.S39dup), JUP(NM_002230.4):c.116_118dupGCA (p.S39dup) - JUP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.135G>A r.(?) p.(=) - Unknown - benign g.39927972C>T - JUP(NM_001352773.2):c.135G>A (p.E45=) - JUP_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147C>T r.(?) p.(Cys49=) - Unknown - likely benign g.39927960G>A g.41771708G>A JUP(NM_002230.4):c.147C>T (p.C49=) - JUP_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.152G>A r.(?) p.(Arg51His) N-terminus Unknown - VUS g.39927955C>T g.41771703C>T - - JUP_000027 - Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7914 - - Germline - - - - - DNA SEQ - - ? - Tsatsopoulou (escardio.org ID19 2397) JUP variant found in 3 relatives of DSC2 p.Ala45ProfsX10 proband - - - - - - - - 3 Paul van der Zwaag
-?/. - c.159C>T r.(?) p.(Tyr53=) - Unknown - likely benign g.39927948G>A g.41771696G>A JUP(NM_002230.2):c.159C>T (p.Y53=) - JUP_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161C>T r.(?) p.(Thr54Met) - Unknown - VUS g.39927946G>A - JUP(NM_001352773.2):c.161C>T (p.T54M) - JUP_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.162G>C r.(?) p.(Thr54=) - Unknown - benign g.39927945C>G - JUP(NM_001352773.2):c.162G>C (p.T54=) - JUP_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.204C>A r.(?) p.(Ser68Arg) - Unknown - VUS g.39927903G>T - JUP(NM_001352773.2):c.204C>A (p.S68R) - JUP_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.208+1G>A r.spl? p.? - Unknown - likely pathogenic g.39927898C>T - - - JUP_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 2i c.208+18_208+19del r.(?) p.(=) - Unknown - benign g.39927880_39927881del g.41771628_41771629del 208+18_208+19delCG - JUP_000004 - PubMed: Koopmann, ARVD/C database 7593 - - Germline - - - - - DNA SEQ - - ? - PubMed: Koopmann - - - - - - - - - 1 Paul van der Zwaag
-?/. - c.208+137A>G r.(=) p.(=) - Unknown - likely benign g.39927762T>C g.41771510T>C JUP(NM_002230.2):c.208+137A>G - JUP_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.209-14C>A r.(=) p.(=) - Unknown - likely benign g.39925943G>T - JUP(NM_001352773.2):c.209-14C>A - JUP_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.209-11A>G r.(=) p.(=) - Unknown - likely benign g.39925940T>C - JUP(NM_001352773.2):c.209-11A>G - JUP_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.209-7C>A r.(=) p.(=) - Unknown - likely benign g.39925936G>T - JUP(NM_001352773.2):c.209-7C>A - JUP_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209-3del r.spl? p.? - Unknown - VUS g.39925936del g.41769684del JUP(NM_001352773.1):c.209-3delC, JUP(NM_002230.4):c.209-3delC - JUP_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.209-3del r.spl? p.? - Unknown - likely benign g.39925936del g.41769684del JUP(NM_001352773.1):c.209-3delC, JUP(NM_002230.4):c.209-3delC - JUP_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209-3del r.spl? p.? - Unknown - VUS g.39925936del g.41769684del JUP(NM_001352773.1):c.209-3delC, JUP(NM_002230.4):c.209-3delC - JUP_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213T>C r.(?) p.(Asp71=) - Unknown - benign g.39925925A>G g.41769673A>G JUP(NM_002230.2):c.213T>C (p.D71=), JUP(NM_002230.4):c.213T>C (p.D71=), JUP(NM_021991.2):c.213T>C (p.D71=) - JUP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213T>C r.(?) p.(Asp71=) - Unknown - benign g.39925925A>G g.41769673A>G JUP(NM_002230.2):c.213T>C (p.D71=), JUP(NM_002230.4):c.213T>C (p.D71=), JUP(NM_021991.2):c.213T>C (p.D71=) - JUP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213T>C r.(?) p.(Asp71=) - Unknown - benign g.39925925A>G g.41769673A>G JUP(NM_002230.2):c.213T>C (p.D71=), JUP(NM_002230.4):c.213T>C (p.D71=), JUP(NM_021991.2):c.213T>C (p.D71=) - JUP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213T>C r.(?) p.(Asp71=) - Unknown - benign g.39925925A>G g.41769673A>G JUP(NM_002230.2):c.213T>C (p.D71=), JUP(NM_002230.4):c.213T>C (p.D71=), JUP(NM_021991.2):c.213T>C (p.D71=) - JUP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.213T>C r.(?) p.(=) N-terminus Unknown - benign g.39925925A>G g.41769673A>G - - JUP_000005 - PubMed: Koopmann, ARVD/C database 7512 - rs7405731 Germline - - - - - DNA SEQ - - ? - PubMed: Koopmann - - - - - - - - - 1 Paul van der Zwaag
-/. - c.213T>C r.(?) p.(Asp71=) - Unknown - benign g.39925925A>G g.41769673A>G JUP(NM_002230.2):c.213T>C (p.D71=), JUP(NM_002230.4):c.213T>C (p.D71=), JUP(NM_021991.2):c.213T>C (p.D71=) - JUP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.236C>T r.(?) p.(Thr79Ile) - Unknown - VUS g.39925902G>A - JUP(NM_002230.2):c.236C>T (p.T79I) - JUP_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.238G>A r.(?) p.(Ala80Thr) - Unknown - likely benign g.39925900C>T g.41769648C>T JUP(NM_021991.2):c.238G>A (p.A80T) - JUP_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.250C>T r.(?) p.(Arg84Trp) - Unknown - VUS g.39925888G>A g.41769636G>A JUP(NM_021991.2):c.250C>T (p.R84W) - JUP_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251G>A r.(?) p.(Arg84Gln) - Unknown - VUS g.39925887C>T g.41769635C>T JUP(NM_001352773.2):c.251G>A (p.R84Q) - JUP_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251G>A r.(?) p.(Arg84Gln) - Unknown - VUS g.39925887C>T g.41769635C>T - - JUP_000203 - PubMed: Walsh 2017 - - Germline - 1/94 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.252G>A r.(?) p.(Arg84=) - Unknown - likely benign g.39925886C>T - - - JUP_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257G>A r.(?) p.(Arg86Gln) - Unknown - VUS g.39925881C>T - JUP(NM_001352773.2):c.257G>A (p.R86Q) - JUP_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.258G>A r.(?) p.(Arg86=) - Unknown - benign g.39925880C>T g.41769628C>T JUP(NM_002230.4):c.258G>A (p.R86=) - JUP_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.274G>A r.(?) p.(Gly92Ser) - Unknown - VUS g.39925864C>T - JUP(NM_002230.4):c.274G>A (p.G92S) - JUP_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.286G>A r.(?) p.(Glu96Lys) N-terminus Unknown - VUS g.39925852C>T g.41769600C>T - - JUP_000022 - unpublished, ARVD/C database 7848 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
?/. - c.286G>A r.(?) p.(Glu96Lys) - Unknown - VUS g.39925852C>T - JUP(NM_001352773.2):c.286G>A (p.E96K), JUP(NM_002230.4):c.286G>A (p.E96K) - JUP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.286G>A r.(?) p.(Glu96Lys) - Unknown - VUS g.39925852C>T - JUP(NM_001352773.2):c.286G>A (p.E96K), JUP(NM_002230.4):c.286G>A (p.E96K) - JUP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.291C>T r.(?) p.(Asp97=) - Unknown - likely benign g.39925847G>A g.41769595G>A - - JUP_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.294C>G r.(?) p.(Ser98Arg) - Unknown - VUS g.39925844G>C - JUP(NM_001352773.2):c.294C>G (p.S98R) - JUP_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.296C>T r.(?) p.(Ser99Leu) - Unknown - VUS g.39925842G>A g.41769590G>A JUP(NM_002230.4):c.296C>T (p.S99L) - JUP_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.296C>T r.(?) p.(Ser99Leu) - Unknown - VUS g.39925842G>A g.41769590G>A - - JUP_000201 - PubMed: Walsh 2017 - - Germline - 1/94 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/? 3 c.297G>A r.(?) p.(=) N-terminus Unknown - VUS g.39925841C>T g.41769589C>T - - JUP_000029 - unpublished, ARVD/C database 7932 - - Germline - - - - - DNA SEQ - - ? - - Found once in 140 patients - - - - - - - - 1 Paul van der Zwaag
-/. - c.297G>A r.(?) p.(Ser99=) - Unknown - benign g.39925841C>T g.41769589C>T JUP(NM_002230.2):c.297G>A (p.S99=), JUP(NM_002230.4):c.297G>A (p.S99=), JUP(NM_021991.2):c.297G>A (p.S99=) - JUP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297G>A r.(?) p.(Ser99=) - Unknown - likely benign g.39925841C>T g.41769589C>T JUP(NM_002230.2):c.297G>A (p.S99=), JUP(NM_002230.4):c.297G>A (p.S99=), JUP(NM_021991.2):c.297G>A (p.S99=) - JUP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297G>A r.(?) p.(Ser99=) - Unknown - likely benign g.39925841C>T g.41769589C>T JUP(NM_002230.2):c.297G>A (p.S99=), JUP(NM_002230.4):c.297G>A (p.S99=), JUP(NM_021991.2):c.297G>A (p.S99=) - JUP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297G>A r.(?) p.(Ser99=) - Unknown - likely benign g.39925841C>T g.41769589C>T JUP(NM_002230.2):c.297G>A (p.S99=), JUP(NM_002230.4):c.297G>A (p.S99=), JUP(NM_021991.2):c.297G>A (p.S99=) - JUP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297G>A r.(?) p.(Ser99=) - Unknown - likely benign g.39925841C>T g.41769589C>T JUP(NM_002230.2):c.297G>A (p.S99=), JUP(NM_002230.4):c.297G>A (p.S99=), JUP(NM_021991.2):c.297G>A (p.S99=) - JUP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312C>G r.(?) p.(Thr104=) - Unknown - likely benign g.39925826G>C g.41769574G>C JUP(NM_002230.2):c.312C>G (p.T104=) - JUP_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.312C>G r.(?) p.(Thr104=) - Unknown - likely benign g.39925826G>C g.41769574G>C JUP(NM_002230.2):c.312C>G (p.T104=) - JUP_000200 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.335A>G r.(?) p.(Asn112Ser) - Unknown - likely benign g.39925803T>C g.41769551T>C JUP(NM_002230.4):c.335A>G (p.N112S), JUP(NM_021991.2):c.335A>G (p.N112S) - JUP_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.335A>G r.(?) p.(Asn112Ser) - Unknown - likely benign g.39925803T>C g.41769551T>C JUP(NM_002230.4):c.335A>G (p.N112S), JUP(NM_021991.2):c.335A>G (p.N112S) - JUP_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.346C>T r.(?) p.(Leu116=) - Unknown - benign g.39925792G>A - JUP(NM_001352773.2):c.346C>T (p.L116=) - JUP_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.352G>A r.(?) p.(Glu118Lys) - Unknown - VUS g.39925786C>T - JUP(NM_001352773.2):c.352G>A (p.E118K) - JUP_000277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.374C>T r.(?) p.(Ser125Leu) - Unknown - VUS g.39925764G>A g.41769512G>A JUP(NM_001352773.2):c.374C>T (p.S125L), JUP(NM_021991.2):c.374C>T (p.S125L) - JUP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.374C>T r.(?) p.(Ser125Leu) - Unknown - VUS g.39925764G>A g.41769512G>A - - JUP_000042 - unpublished, ARVD/C database 8068 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
?/. - c.374C>T r.(?) p.(Ser125Leu) - Unknown - VUS g.39925764G>A g.41769512G>A JUP(NM_001352773.2):c.374C>T (p.S125L), JUP(NM_021991.2):c.374C>T (p.S125L) - JUP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.375G>A r.(?) p.(Ser125=) - Unknown - likely benign g.39925763C>T - JUP(NM_001352773.1):c.375G>A (p.S125=) - JUP_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 3 c.392del r.(?) p.(Ile131ThrfsTer29) - Unknown - pathogenic g.39925746del g.41769494del 392_392delTCA - JUP_000039 - onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7980 - - Germline - - - - - DNA SEQ - - ARVD/C - onlinejacc.org Abs 55/6/587:Xu} - - - - - - - - - 1 Paul van der Zwaag
?/. - c.396C>T r.(?) p.(Asn132=) - Unknown - VUS g.39925742G>A g.41769490G>A - - JUP_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.405C>T r.(?) p.(=) Armadillo 1 Unknown - benign g.39925733G>A g.41769481G>A - - JUP_000006 - - - rs17850807 Germline - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.405C>T r.(?) p.(Asp135=) - Unknown - benign g.39925733G>A g.41769481G>A JUP(NM_002230.4):c.405C>T (p.D135=), JUP(NM_021991.2):c.405C>T (p.D135=) - JUP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.405C>T r.(?) p.(Asp135=) - Unknown - benign g.39925733G>A g.41769481G>A JUP(NM_002230.4):c.405C>T (p.D135=), JUP(NM_021991.2):c.405C>T (p.D135=) - JUP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.405C>T r.(?) p.(Asp135=) - Unknown - benign g.39925733G>A g.41769481G>A JUP(NM_002230.4):c.405C>T (p.D135=), JUP(NM_021991.2):c.405C>T (p.D135=) - JUP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406G>A r.(?) p.(Asp136Asn) - Unknown - VUS g.39925732C>T - JUP(NM_001352773.2):c.406G>A (p.D136N) - JUP_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.412G>A r.(?) p.(Glu138Lys) - Unknown - VUS g.39925726C>T g.41769474C>T JUP(NM_002230.4):c.412G>A (p.E138K) - JUP_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.412G>A r.(?) p.(Glu138Lys) - Unknown - VUS g.39925726C>T g.41769474C>T - - JUP_000153 - PubMed: Walsh 2017 - - Germline - 1/94 cases - - - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.425G>A r.(?) p.(Arg142His) - Unknown - benign g.39925713C>T g.41769461C>T JUP(NM_002230.2):c.425G>A (p.R142H), JUP(NM_002230.4):c.425G>A (p.R142H, p.(Arg142His)), JUP(NM_021991.2):c.425G>A (p.R142H) - JUP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.425G>A r.(?) p.(Arg142His) - Unknown - benign g.39925713C>T g.41769461C>T JUP(NM_002230.2):c.425G>A (p.R142H), JUP(NM_002230.4):c.425G>A (p.R142H, p.(Arg142His)), JUP(NM_021991.2):c.425G>A (p.R142H) - JUP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.425G>A r.(?) p.(Arg142His) - Unknown - benign g.39925713C>T g.41769461C>T JUP(NM_002230.2):c.425G>A (p.R142H), JUP(NM_002230.4):c.425G>A (p.R142H, p.(Arg142His)), JUP(NM_021991.2):c.425G>A (p.R142H) - JUP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.425G>A r.(?) p.(Arg142His) - Unknown - benign g.39925713C>T g.41769461C>T JUP(NM_002230.2):c.425G>A (p.R142H), JUP(NM_002230.4):c.425G>A (p.R142H, p.(Arg142His)), JUP(NM_021991.2):c.425G>A (p.R142H) - JUP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3 c.425G>A r.(?) p.(Arg142His) Armadillo 1 Unknown - benign g.39925713C>T g.41769461C>T - - JUP_000007 - PubMed: Koopmann, ARVD/C database 7514 - rs41283425 Germline - - - - - DNA SEQ - - ? - PubMed: Koopmann - - - - - - - - - 1 Paul van der Zwaag
-?/. - c.425G>A r.(?) p.(Arg142His) - Unknown - likely benign g.39925713C>T g.41769461C>T JUP(NM_002230.2):c.425G>A (p.R142H), JUP(NM_002230.4):c.425G>A (p.R142H, p.(Arg142His)), JUP(NM_021991.2):c.425G>A (p.R142H) - JUP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.425G>A r.(?) p.(Arg142His) - Unknown - benign g.39925713C>T g.41769461C>T JUP(NM_002230.2):c.425G>A (p.R142H), JUP(NM_002230.4):c.425G>A (p.R142H, p.(Arg142His)), JUP(NM_021991.2):c.425G>A (p.R142H) - JUP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.425G>A r.(?) p.(Arg142His) - Parent #1 - likely benign g.39925713C>T g.41769461C>T - - JUP_000007 199 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41283425 Germline - 199/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 199 Mohammed Faruq
-?/. - c.425G>A r.(?) p.(Arg142His) - Both (homozygous) - likely benign g.39925713C>T g.41769461C>T - - JUP_000007 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41283425 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.426C>T r.(?) p.(Arg142=) - Unknown - likely benign g.39925712G>A g.41769460G>A JUP(NM_001352773.2):c.426C>T (p.R142=), JUP(NM_021991.2):c.426C>T (p.R142=) - JUP_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.426C>T r.(?) p.(Arg142=) - Unknown - likely benign g.39925712G>A g.41769460G>A JUP(NM_001352773.2):c.426C>T (p.R142=), JUP(NM_021991.2):c.426C>T (p.R142=) - JUP_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.426C>T r.(?) p.(Arg142=) - Unknown - likely benign g.39925712G>A g.41769460G>A JUP(NM_001352773.2):c.426C>T (p.R142=), JUP(NM_021991.2):c.426C>T (p.R142=) - JUP_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.426C>T r.(?) p.(Arg142=) - Unknown - benign g.39925712G>A - JUP(NM_001352773.2):c.426C>T (p.R142=), JUP(NM_021991.2):c.426C>T (p.R142=) - JUP_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.427G>A r.(?) p.(Ala143Thr) - Unknown - VUS g.39925711C>T g.41769459C>T - - JUP_000043 - unpublished, ARVD/C database 8059 - - Germline - - - - - DNA SEQ - - ? - - - - - - - - - - - 1 Paul van der Zwaag
?/. - c.427G>A r.(?) p.(Ala143Thr) - Unknown - VUS g.39925711C>T - JUP(NM_002230.2):c.427G>A (p.A143T) - JUP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.456C>T r.(?) p.(=) - Unknown - likely benign g.39925682G>A - JUP(NM_001352773.2):c.456C>T (p.N152=) - JUP_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.459C>T r.(?) p.(Asp153=) - Unknown - benign g.39925679G>A g.41769427G>A JUP(NM_002230.4):c.459C>T (p.D153=), JUP(NM_021991.2):c.459C>T (p.D153=) - JUP_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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