Full data view for gene JUP

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

416 entries on 5 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 - - - 0 - DNA SEQ - - ? - PubMed: Koopmann - - - - - - 0 - - 1 Paul van der Zwaag
-/- 1i c.-9+19_-9+20del r.(=) p.(=) - Unknown - benign g.39942822_39942823del g.41786570_41786571del -9+17_-9+18del2 - JUP_000036 - - - rs67537421 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2C>T r.(?) p.(=) - Unknown - likely benign g.39928108G>A - JUP(NM_001352773.1):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_002230.2):c.9G>C (p.V3=) - JUP_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.35A>G r.(?) p.(Lys12Arg) - Unknown - VUS g.39928072T>C g.41771820T>C - - JUP_000040 - unpublished, ARVD/C database 8135 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Paul van der Zwaag
?/. - c.56C>T r.(?) p.(Thr19Ile) - Unknown - VUS g.39928051G>A g.41771799G>A JUP(NM_002230.2):c.56C>T (p.T19I) - JUP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 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 - - - 0 - DNA SEQ - - ARVD/C - PubMed: den Haan - - - - - - 0 - - 1 Paul van der Zwaag
?/. - c.56C>T r.(?) p.(Thr19Ile) - Unknown - VUS g.39928051G>A g.41771799G>A JUP(NM_002230.2):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_002230.2):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 - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Paul van der Zwaag
-/? 2 c.96C>T r.(?) p.(=) N-terminus Unknown - benign g.39928011G>A g.41771759G>A - - JUP_000002 - - - rs11655659 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 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 - - - 0 - DNA SEQ - - ARVD/C - PubMed: Asimaki(1) autosomal dominant; no cutaneous abnormalities - - - - - 0 - - 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 - - - 0 - DNA SEQ - - ARVD/C - PubMed: Asimaki 2009 - - - - - - 0 - - 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_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147C>T r.(?) p.(Cys49=) - Unknown - likely benign g.39927960G>A g.41771708G>A JUP(NM_002230.2):c.147C>T (p.C49=) - JUP_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 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 - - - 0 - DNA SEQ - - ? - Tsatsopoulou (escardio.org ID19 2397) JUP variant found in 3 relatives of DSC2 p.Ala45ProfsX10 proband - - - - - 0 - - 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_001352773.1):c.161C>T (p.T54M) - JUP_000251 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 - - - 0 - DNA SEQ - - ? - PubMed: Koopmann - - - - - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.209-3del r.spl? p.? - Unknown - VUS g.39925936del g.41769684del JUP(NM_001352773.1):c.209-3delC, JUP(NM_002230.2):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_002230.2):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_002230.2):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_021991.2):c.213T>C (p.D71=) - JUP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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_021991.2):c.213T>C (p.D71=) - JUP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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_021991.2):c.213T>C (p.D71=) - JUP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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_021991.2):c.213T>C (p.D71=) - JUP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 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 - - - 0 - DNA SEQ - - ? - PubMed: Koopmann - - - - - - 0 - - 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_021991.2):c.213T>C (p.D71=) - JUP_000005 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-/. - c.258G>A r.(?) p.(Arg86=) - Unknown - benign g.39925880C>T g.41769628C>T JUP(NM_002230.2):c.258G>A (p.R86=) - JUP_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 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 - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Paul van der Zwaag
-?/. - 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 - likely benign g.39925844G>C g.41769592G>C - - 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_002230.2):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 - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 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 - - - 0 - DNA SEQ - - ? - - Found once in 140 patients - - - - - 0 - - 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_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_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_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_021991.2):c.297G>A (p.S99=) - JUP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.297G>A r.(?) p.(Ser99=) - Unknown - VUS g.39925841C>T g.41769589C>T JUP(NM_002230.2):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_002230.2):c.335A>G (p.N112S), JUP(NM_021991.2):c.335A>G (p.N112S) - JUP_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.335A>G r.(?) p.(Asn112Ser) - Unknown - likely benign g.39925803T>C g.41769551T>C JUP(NM_002230.2):c.335A>G (p.N112S), JUP(NM_021991.2):c.335A>G (p.N112S) - JUP_000155 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.374C>T r.(?) p.(Ser125Leu) - Unknown - VUS g.39925764G>A g.41769512G>A - - JUP_000042 - unpublished, ARVD/C database 8068 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 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 - - - 0 - DNA SEQ - - ARVD/C - onlinejacc.org Abs 55/6/587:Xu} - - - - - - 0 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.405C>T r.(?) p.(Asp135=) - Unknown - benign g.39925733G>A g.41769481G>A JUP(NM_002230.2):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_002230.2):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_002230.2):c.405C>T (p.D135=), JUP(NM_021991.2):c.405C>T (p.D135=) - JUP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.412G>A r.(?) p.(Glu138Lys) - Unknown - VUS g.39925726C>T g.41769474C>T JUP(NM_002230.2):c.412G>A (p.E138K) - JUP_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.412G>A r.(?) p.(Glu138Lys) - Unknown - VUS g.39925726C>T g.41769474C>T - - JUP_000153 - PubMed: Walsh 2017 - - Germline - 1/94 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - 0 - - 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_021991.2):c.425G>A (p.R142H) - JUP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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_021991.2):c.425G>A (p.R142H) - JUP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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_021991.2):c.425G>A (p.R142H) - JUP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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_021991.2):c.425G>A (p.R142H) - JUP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 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 - - - 0 - DNA SEQ - - ? - PubMed: Koopmann - - - - - - 0 - - 1 Paul van der Zwaag
-/. - 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_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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-?/. - c.426C>T r.(?) p.(Arg142=) - Unknown - likely benign g.39925712G>A g.41769460G>A JUP(NM_021991.2):c.426C>T (p.R142=) - JUP_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.426C>T r.(?) p.(Arg142=) - Unknown - likely benign g.39925712G>A g.41769460G>A JUP(NM_021991.2):c.426C>T (p.R142=) - JUP_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.426C>T r.(?) p.(Arg142=) - Unknown - likely benign g.39925712G>A g.41769460G>A 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 - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 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.459C>T r.(?) p.(Asp153=) - Unknown - benign g.39925679G>A g.41769427G>A JUP(NM_002230.2):c.459C>T (p.D153=), JUP(NM_021991.2):c.459C>T (p.D153=) - JUP_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.459C>T r.(?) p.(Asp153=) - Unknown - likely benign g.39925679G>A g.41769427G>A JUP(NM_002230.2):c.459C>T (p.D153=), JUP(NM_021991.2):c.459C>T (p.D153=) - JUP_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.459C>T r.(?) p.(Asp153=) - Unknown - likely benign g.39925679G>A - JUP(NM_002230.2):c.459C>T (p.D153=), JUP(NM_021991.2):c.459C>T (p.D153=) - JUP_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.460G>A r.(?) p.(Glu154Lys) - Unknown - VUS g.39925678C>T g.41769426C>T JUP(NM_001352773.2):c.460G>A (p.E154K), JUP(NM_002230.2):c.460G>A (p.E154K), JUP(NM_021991.2):c.460G>A (p.E154K) - JUP_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.460G>A r.(?) p.(Glu154Lys) - Unknown - VUS g.39925678C>T g.41769426C>T JUP(NM_001352773.2):c.460G>A (p.E154K), JUP(NM_002230.2):c.460G>A (p.E154K), JUP(NM_021991.2):c.460G>A (p.E154K) - JUP_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.460G>A r.(?) p.(Glu154Lys) - Unknown - VUS g.39925678C>T g.41769426C>T JUP(NM_001352773.2):c.460G>A (p.E154K), JUP(NM_002230.2):c.460G>A (p.E154K), JUP(NM_021991.2):c.460G>A (p.E154K) - JUP_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.468G>A r.(?) p.(=) - Unknown - VUS g.39925670C>T g.41769418C>T - - JUP_000044 Predicted to ablate normal splice site unpublished, ARVD/C database 8113 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Paul van der Zwaag
-?/. - c.468+7G>A r.(=) p.(=) - Unknown - likely benign g.39925663C>T g.41769411C>T - - JUP_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 3i c.468+53G>A r.(?) p.(=) - Unknown - benign g.39925617C>T g.41769365C>T - - JUP_000037 - - - rs71373451 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 3i c.469-48C>T r.(?) p.(=) - Unknown - benign g.39925507G>A g.41769255G>A - - JUP_000030 - unpublished, ARVD/C database 7933 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Paul van der Zwaag
-?/. - c.469-16del r.(=) p.(=) - Unknown - likely benign g.39925475del - JUP(NM_001352773.1):c.469-16delT - JUP_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3i c.469-8_469-1del r.spl p.? - Unknown - VUS g.39925461_39925468del g.41769209_41769216del - - JUP_000046 putative effect on splicing unpublished, ARVD/C database 8138 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Paul van der Zwaag
?/. 4 c.475G>T r.(?) p.(Val159Leu) - Parent #1 - VUS g.39925453C>A g.41769201C>A - - JUP_000026 - PubMed: Allegue 2015, Journal: Allegue 2015 - - Germline yes - - 0 - DNA SEQ - - BRGDA - PubMed: Allegue 2015, Journal: Allegue 2015 - M - Spain European >30y 0 - - 1 Anna Iglesias
+/? 4 c.475G>T r.(?) p.(Val159Leu) Armadillo 1 Unknown - pathogenic g.39925453C>A g.41769201C>A - - JUP_000026 - PubMed: Ly, ARVD/C database 785 - - Germline - - - 0 - DNA SEQ - - ARVD/C - PubMed: Ly No skin abnormalities - - - - - 0 - - 1 Paul van der Zwaag
+/? 4 c.475G>T r.(?) p.(Val159Leu) Armadillo 1 Unknown - pathogenic g.39925453C>A g.41769201C>A - - JUP_000026 - onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 785 - - Germline - - - 0 - DNA SEQ - - ARVD/C - onlinejacc.org Abs 55/6/587:Xu} - - - - - - 0 - - 1 Paul van der Zwaag
?/. - c.475G>T r.(?) p.(Val159Leu) - Unknown - VUS g.39925453C>A g.41769201C>A JUP(NM_002230.2):c.475G>T (p.V159L) - JUP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475G>T r.(?) p.(Val159Leu) - Unknown - VUS g.39925453C>A - JUP(NM_002230.2):c.475G>T (p.V159L) - JUP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.485C>T r.(?) p.(Ala162Val) - Unknown - VUS g.39925443G>A - JUP(NM_021991.2):c.485C>T (p.A162V) - JUP_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.486G>A r.(?) p.(Ala162=) - Unknown - benign g.39925442C>T g.41769190C>T JUP(NM_002230.2):c.486G>A (p.A162=) - JUP_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.486G>A r.(?) p.(Ala162=) - Unknown - likely benign g.39925442C>T g.41769190C>T JUP(NM_002230.2):c.486G>A (p.A162=) - JUP_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.502C>G r.(?) p.(Gln168Glu) - Unknown - VUS g.39925426G>C g.41769174G>C JUP(NM_021991.2):c.502C>G (p.Q168E) - JUP_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.510G>A r.(?) p.(Ser170=) - Unknown - likely benign g.39925418C>T g.41769166C>T JUP(NM_002230.2):c.510G>A (p.S170=) - JUP_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.521C>T r.(?) p.(Ala174Val) - Unknown - VUS g.39925407G>A g.41769155G>A - - JUP_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4 c.526C>T r.(?) p.(Arg176Trp) - Unknown - VUS g.39925402G>A g.41769150G>A R176C - JUP_000047 - unpublished, ARVD/C database 8252 - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Paul van der Zwaag
?/. - c.526C>T r.(?) p.(Arg176Trp) - Unknown - VUS g.39925402G>A g.41769150G>A JUP(NM_001352773.2):c.526C>T (p.R176W) - JUP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.527G>A r.(?) p.(Arg176Gln) - Parent #1 - benign g.39925401C>T g.41769149C>T - - JUP_000228 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144171604 Germline - 2/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
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