Unique variants in the JUP gene

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/- 1 1 c.-88A>G r.(?) p.(=) - - benign g.39942919T>C g.41786667T>C - - JUP_000001 - PubMed: Koopmann, ARVD/C database 7592 - rs4796702 Germline - - - - - Paul van der Zwaag
-/- 1 1i c.-9+19_-9+20del r.(=) p.(=) - - benign g.39942822_39942823del g.41786570_41786571del -9+17_-9+18del2 - JUP_000036 - - - rs67537421 Germline - - - - - Paul van der Zwaag
-?/. 1 - c.-2C>T r.(?) p.(=) - - likely benign g.39928108G>A - JUP(NM_001352773.1):c.-2C>T - JUP_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.9G>C r.(?) p.(Val3=) - - 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 - - - - - VKGL-NL_Groningen
?/? 1 2 c.35A>G r.(?) p.(Lys12Arg) - - VUS g.39928072T>C g.41771820T>C - - JUP_000040 - unpublished, ARVD/C database 8135 - - Germline - - - - - Paul van der Zwaag
+/?, ?/. 4 2 c.56C>T r.(?) p.(Thr19Ile) N-terminus - pathogenic, VUS g.39928051G>A g.41771799G>A JUP(NM_002230.2):c.56C>T (p.T19I) - JUP_000028 VKGL data sharing initiative Nederland PubMed: den Haan, ARVD/C database 7875 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/? 1 2 c.71C>A r.(?) p.(Ser24*) - - VUS g.39928036G>T g.41771784G>T - - JUP_000041 - unpublished, ARVD/C database 8112 - - Germline - - - - - Paul van der Zwaag
-/? 1 2 c.96C>T r.(?) p.(=) N-terminus - benign g.39928011G>A g.41771759G>A - - JUP_000002 - - - rs11655659 Germline - - - - - Paul van der Zwaag
+/+, ?/. 3 2 c.116_118dup r.(?) p.(Ser39dup) N-terminus - pathogenic, VUS g.39927994_39927996dup g.41771742_41771744dup JUP(NM_002230.2):c.116_118dupGCA (p.S39dup) - JUP_000003, JUP_000206 VKGL data sharing initiative Nederland PubMed: Asimaki 2009, ARVD/C database 7511, PubMed: Asimaki(1), ARVD/C database 7511 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_AMC
-?/. 1 - c.147C>T r.(?) p.(Cys49=) - - 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 - - - - - VKGL-NL_Groningen
?/? 1 2 c.152G>A r.(?) p.(Arg51His) N-terminus - VUS g.39927955C>T g.41771703C>T - - JUP_000027 - Tsatsopoulou (escardio.org ID19 2397), ARVD/C database 7914 - - Germline - - - - - Paul van der Zwaag
-?/. 1 - c.159C>T r.(?) p.(Tyr53=) - - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.161C>T r.(?) p.(Thr54Met) - - VUS g.39927946G>A - JUP(NM_001352773.1):c.161C>T (p.T54M) - JUP_000251 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/- 1 2i c.208+18_208+19del r.(?) p.(=) - - benign g.39927880_39927881del g.41771628_41771629del 208+18_208+19delCG - JUP_000004 - PubMed: Koopmann, ARVD/C database 7593 - - Germline - - - - - Paul van der Zwaag
-?/. 1 - c.208+137A>G r.(=) p.(=) - - 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 - - - - - VKGL-NL_Utrecht
-?/., ?/. 3 - c.209-3del r.spl? p.? - - likely benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
-/-, -/. 6 3 c.213T>C r.(?) p.(=), p.(Asp71=) N-terminus - 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 PubMed: Koopmann, ARVD/C database 7512 - rs7405731 CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.238G>A r.(?) p.(Ala80Thr) - - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.250C>T r.(?) p.(Arg84Trp) - - 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 - - - - - VKGL-NL_Rotterdam
?/. 2 - c.251G>A r.(?) p.(Arg84Gln) - - VUS g.39925887C>T g.41769635C>T JUP(NM_001352773.2):c.251G>A (p.R84Q) - JUP_000203 VKGL data sharing initiative Nederland PubMed: Walsh 2017 - - CLASSIFICATION record, Germline - 1/94 cases - - - Johan den Dunnen, VKGL-NL_Groningen
-/. 1 - c.258G>A r.(?) p.(Arg86=) - - 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 - - - - - VKGL-NL_AMC
?/? 1 3 c.286G>A r.(?) p.(Glu96Lys) N-terminus - VUS g.39925852C>T g.41769600C>T - - JUP_000022 - unpublished, ARVD/C database 7848 - - Germline - - - - - Paul van der Zwaag
-?/. 1 - c.291C>T r.(?) p.(Asp97=) - - likely benign g.39925847G>A g.41769595G>A - - JUP_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.294C>G r.(?) p.(Ser98Arg) - - likely benign g.39925844G>C g.41769592G>C - - JUP_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.296C>T r.(?) p.(Ser99Leu) - - VUS g.39925842G>A g.41769590G>A JUP(NM_002230.2):c.296C>T (p.S99L) - JUP_000201 VKGL data sharing initiative Nederland PubMed: Walsh 2017 - - CLASSIFICATION record, Germline - 1/94 cases - - - Johan den Dunnen, VKGL-NL_AMC
-/., -?/., ?/., ?/? 6 3 c.297G>A r.(?) p.(=), p.(Ser99=) N-terminus - benign, likely benign, 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 unpublished, ARVD/C database 7932 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 2 - c.312C>G r.(?) p.(Thr104=) - - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 2 - c.335A>G r.(?) p.(Asn112Ser) - - 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 - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
?/., ?/? 3 3 c.374C>T r.(?) p.(Ser125Leu) - - 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 unpublished, ARVD/C database 8068 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.375G>A r.(?) p.(Ser125=) - - likely benign g.39925763C>T - JUP(NM_001352773.1):c.375G>A (p.S125=) - JUP_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+? 1 3 c.392del r.(?) p.(Ile131ThrfsTer29) - - pathogenic g.39925746del g.41769494del 392_392delTCA - JUP_000039 - onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 7980 - - Germline - - - - - Paul van der Zwaag
?/. 1 - c.396C>T r.(?) p.(Asn132=) - - VUS g.39925742G>A g.41769490G>A - - JUP_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/-, -/. 4 3 c.405C>T r.(?) p.(=), p.(Asp135=) Armadillo 1 - 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 - - rs17850807 CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 - c.412G>A r.(?) p.(Glu138Lys) - - VUS g.39925726C>T g.41769474C>T JUP(NM_002230.2):c.412G>A (p.E138K) - JUP_000153 VKGL data sharing initiative Nederland PubMed: Walsh 2017 - - CLASSIFICATION record, Germline - 1/94 cases - - - Johan den Dunnen, VKGL-NL_AMC
-/-, -/., -?/. 8 3 c.425G>A r.(?) p.(Arg142His) Armadillo 1 - benign, likely 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 199 heterozygous; Clinindb (India), 2 homozygous; Clinindb (India), 1 more item PubMed: Koopmann, ARVD/C database 7514, PubMed: Narang 2020, Journal: Narang 2020 - rs41283425 CLASSIFICATION record, Germline - 199/2795 individuals, 2/2795 individuals - - - Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Mohammed Faruq
-?/. 3 - c.426C>T r.(?) p.(Arg142=) - - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/., ?/? 2 3 c.427G>A r.(?) p.(Ala143Thr) - - VUS g.39925711C>T g.41769459C>T JUP(NM_002230.2):c.427G>A (p.A143T) - JUP_000043 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8059 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Utrecht
-/., -?/. 3 - c.459C>T r.(?) p.(Asp153=) - - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 3 - c.460G>A r.(?) p.(Glu154Lys) - - VUS g.39925678C>T g.41769426C>T 1 more item - JUP_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
?/? 1 3 c.468G>A r.(?) p.(=) - - VUS g.39925670C>T g.41769418C>T - - JUP_000044 Predicted to ablate normal splice site unpublished, ARVD/C database 8113 - - Germline - - - - - Paul van der Zwaag
-?/. 1 - c.468+7G>A r.(=) p.(=) - - likely benign g.39925663C>T g.41769411C>T - - JUP_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/- 1 3i c.468+53G>A r.(?) p.(=) - - benign g.39925617C>T g.41769365C>T - - JUP_000037 - - - rs71373451 Germline - - - - - Paul van der Zwaag
-/- 1 3i c.469-48C>T r.(?) p.(=) - - benign g.39925507G>A g.41769255G>A - - JUP_000030 - unpublished, ARVD/C database 7933 - - Germline - - - - - Paul van der Zwaag
-?/. 1 - c.469-16del r.(=) p.(=) - - likely benign g.39925475del - JUP(NM_001352773.1):c.469-16delT - JUP_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/? 1 3i c.469-8_469-1del r.spl p.? - - VUS g.39925461_39925468del g.41769209_41769216del - - JUP_000046 putative effect on splicing unpublished, ARVD/C database 8138 - - Germline - - - - - Paul van der Zwaag
+/?, ?/. 5 4 c.475G>T r.(?) p.(Val159Leu) Armadillo 1 - pathogenic, VUS g.39925453C>A g.41769201C>A JUP(NM_002230.2):c.475G>T (p.V159L) - JUP_000026 VKGL data sharing initiative Nederland onlinejacc.org Abs 55/6/587:Xu}, ARVD/C database 785, PubMed: Allegue 2015, Journal: Allegue 2015, 1 more item - - CLASSIFICATION record, Germline yes - - - - Anna Iglesias, Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.485C>T r.(?) p.(Ala162Val) - - VUS g.39925443G>A - JUP(NM_021991.2):c.485C>T (p.A162V) - JUP_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.486G>A r.(?) p.(Ala162=) - - benign, 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 - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.502C>G r.(?) p.(Gln168Glu) - - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.510G>A r.(?) p.(Ser170=) - - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.521C>T r.(?) p.(Ala174Val) - - VUS g.39925407G>A g.41769155G>A - - JUP_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., ?/? 2 4 c.526C>T r.(?) p.(Arg176Trp) - - VUS g.39925402G>A g.41769150G>A JUP(NM_001352773.2):c.526C>T (p.R176W), R176C - JUP_000047 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8252 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Groningen
-/. 1 - c.527G>A r.(?) p.(Arg176Gln) - - 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 - - - Mohammed Faruq
?/. 1 - c.529C>T r.(?) p.(Arg177Trp) - - VUS g.39925399G>A g.41769147G>A - - JUP_000242 - PubMed: Walsh 2017 - - Germline - 1/94 cases - - - Johan den Dunnen
-/., ?/. 3 - c.530G>A r.(?) p.(Arg177Gln) - - benign, VUS g.39925398C>T g.41769146C>T JUP(NM_001352773.2):c.530G>A (p.R177Q), JUP(NM_002230.2):c.530G>A (p.R177Q) - JUP_000195 VKGL data sharing initiative Nederland PubMed: Walsh 2017 - - CLASSIFICATION record, Germline - 1/94 cases - - - Johan den Dunnen, VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.545C>T r.(?) p.(Ser182Leu) - - likely benign g.39925383G>A g.41769131G>A JUP(NM_002230.2):c.545C>T (p.S182L) - JUP_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.546G>A r.(?) p.(Ser182=) - - benign, likely benign g.39925382C>T g.41769130C>T JUP(NM_002230.2):c.546G>A (p.S182=) - JUP_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.551A>C r.(?) p.(Gln184Pro) - - VUS g.39925377T>G - - - JUP_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.561C>T r.(?) p.(Ala187=) - - likely benign g.39925367G>A g.41769115G>A JUP(NM_021991.2):c.561C>T (p.A187=) - JUP_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.562G>A r.(?) p.(Ala188Thr) - - VUS g.39925366C>T - JUP(NM_001352773.1):c.562G>A (p.A188T) - JUP_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/-, -/., -?/. 3 4 c.567C>T r.(?) p.(=), p.(Val189=) - - benign, likely benign g.39925361G>A g.41769109G>A JUP(NM_002230.2):c.567C>T (p.V189=), JUP(NM_021991.2):c.567C>T (p.V189=) - JUP_000008 VKGL data sharing initiative Nederland - - rs35297577 CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.578T>C r.(?) p.(Met193Thr) - - VUS g.39925350A>G g.41769098A>G - - JUP_000241 - PubMed: Walsh 2017 - - Germline - 1/304 cases - - - Johan den Dunnen
-?/. 1 - c.589A>G r.(?) p.(Ser197Gly) - - likely benign g.39925339T>C g.41769087T>C JUP(NM_002230.2):c.589A>G (p.S197G) - JUP_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.607C>T r.(?) p.(Arg203Cys) - - VUS g.39925321G>A g.41769069G>A JUP(NM_021991.2):c.607C>T (p.R203C) - JUP_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.608G>A r.(?) p.(Arg203His) - - VUS g.39925320C>T g.41769068C>T JUP(NM_002230.2):c.608G>A (p.R203H) - JUP_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.628C>T r.(?) p.(His210Tyr) - - VUS g.39925300G>A g.41769048G>A JUP(NM_001352773.2):c.628C>T (p.H210Y) - JUP_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.633C>A r.(?) p.(Asn211Lys) - - VUS g.39925295G>T g.41769043G>T JUP(NM_021991.2):c.633C>A (p.N211K) - JUP_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 - c.638C>T r.(?) p.(Ser213Phe) - - VUS g.39925290G>A g.41769038G>A JUP(NM_002230.2):c.638C>T (p.S213F) - JUP_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.647G>A r.(?) p.(Arg216Gln) - - VUS g.39925281C>T g.41769029C>T JUP(NM_021991.2):c.647G>A (p.R216Q) - JUP_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 3 - c.654G>A r.(?) p.(Gly218=) - - benign, likely benign g.39925274C>T g.41769022C>T 1 more item - JUP_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
?/., ?/? 3 4 c.674C>T r.(?) p.(Ser225Leu) - - VUS g.39925254G>A g.41769002G>A JUP(NM_001352773.1):c.674C>T (p.S225L) - JUP_000048 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8098 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.675G>A r.(?) p.(Ser225=) - - VUS g.39925253C>T g.41769001C>T JUP(NM_021991.2):c.675G>A (p.S225=) - JUP_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.680G>A r.(?) p.(Gly227Asp) - - VUS g.39925248C>T g.41768996C>T JUP(NM_021991.2):c.680G>A (p.G227D) - JUP_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.694G>A r.(?) p.(Val232Ile) - - VUS g.39925234C>T g.41768982C>T JUP(NM_002230.2):c.694G>A (p.V232I) - JUP_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 1 4 c.702G>T r.(?) p.(Met234Ile) - - VUS g.39925226C>A g.41768974C>A - - JUP_000049 - unpublished, ARVD/C database 8369 - - Germline - - - - - Paul van der Zwaag
-/. 1 - c.708-19C>T r.(=) p.(=) - - benign g.39923851G>A - JUP(NM_001352773.1):c.708-19C>T - JUP_000249 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.708-10A>C r.(=) p.(=) - - likely benign g.39923842T>G g.41767590T>G JUP(NM_002230.2):c.708-10A>C - JUP_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/? 3 3i c.708-4C>G r.spl? p.? - - benign, VUS g.39923836G>C g.41767584G>C JUP(NM_021991.2):c.708-4C>G - JUP_000045 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8781, unpublished, ARVD/C database 8860 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Rotterdam
+?/., ?/. 2 - c.708-2A>C r.spl? p.? - - likely pathogenic, VUS g.39923834T>G g.41767582T>G JUP(NM_002230.2):c.708-2A>C - JUP_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+?/. 1 - c.709T>C r.(?) p.(Ser237Pro) - - likely pathogenic g.39923831A>G g.41767579A>G - - JUP_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.738C>T r.(?) p.(Ala246=) - - likely benign g.39923802G>A g.41767550G>A JUP(NM_002230.2):c.738C>T (p.A246=) - JUP_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 - c.746C>T r.(?) p.(Thr249Met) - - VUS g.39923794G>A g.41767542G>A JUP(NM_002230.2):c.746C>T (p.T249M) - JUP_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.748C>T r.(?) p.(Leu250=) - - VUS g.39923792G>A g.41767540G>A - - JUP_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/-, -/. 4 5 c.777C>T r.(?) p.(=), p.(Gly259=) Armadillo 3 - benign g.39923763G>A g.41767511G>A JUP(NM_002230.2):c.777C>T (p.G259=), JUP(NM_021991.2):c.777C>T (p.G259=) - JUP_000009 VKGL data sharing initiative Nederland - - rs34890640 CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.778G>A r.(?) p.(Ala260Thr) - - VUS g.39923762C>T g.41767510C>T JUP(NM_002230.2):c.778G>A (p.A260T) - JUP_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.789C>T r.(?) p.(Ala263=) - - likely benign g.39923751G>A g.41767499G>A JUP(NM_021991.2):c.789C>T (p.A263=) - JUP_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 1 5 c.794G>A r.(?) p.(Arg265His) - - VUS g.39923746C>T g.41767494C>T - - JUP_000050 - unpublished, ARVD/C database 8217 - - Germline - - - - - Paul van der Zwaag
-/., -?/. 2 - c.801C>T r.(?) p.(Ala267=) - - benign, likely benign g.39923739G>A g.41767487G>A JUP(NM_002230.2):c.801C>T (p.A267=), JUP(NM_021991.2):c.801C>T (p.A267=) - JUP_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/., ?/. 4 - c.807G>T r.(?) p.(Gly269=) - - benign, likely benign, VUS g.39923733C>A g.41767481C>A 1 more item - JUP_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 - c.809T>G r.(?) p.(Leu270Arg) - - VUS g.39923731A>C g.41767479A>C JUP(NM_002230.2):c.809T>G (p.L270R) - JUP_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 2 - c.849G>T r.(?) p.(Lys283Asn) - - VUS g.39923691C>A g.41767439C>A JUP(NM_002230.2):c.849G>T (p.K283N), JUP(NM_021991.2):c.849G>T (p.K283N) - JUP_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 - c.867C>G r.(?) p.(Thr289=) - - benign g.39923673G>C g.41767421G>C JUP(NM_002230.2):c.867C>G (p.T289=) - JUP_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/-, -/., -?/. 4 5 c.867C>T r.(?) p.(=), p.(Thr289=) Armadillo 3 - benign, likely benign g.39923673G>A g.41767421G>A JUP(NM_002230.2):c.867C>T (p.T289=), JUP(NM_021991.2):c.867C>T (p.T289=) - JUP_000010 VKGL data sharing initiative Nederland - - rs2230407 CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/? 1 5 c.891C>T r.(?) p.(Tyr297Tyr) - - VUS g.39923649G>A g.41767397G>A - - JUP_000051 - unpublished, ARVD/C database 8733 - - Germline - - - - - Paul van der Zwaag
?/. 1 - c.892G>A r.(?) p.(Gly298Ser) - - VUS g.39923648C>T g.41767396C>T - - JUP_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., ?/? 2 5 c.902A>G r.(?) p.(Glu301Gly) - - VUS g.39923638T>C g.41767386T>C JUP(NM_002230.2):c.902A>G (p.E301G) - JUP_000052 VKGL data sharing initiative Nederland unpublished, ARVD/C database 8136 - - CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Utrecht
?/. 1 - c.905G>A r.(?) p.(Ser302Asn) - - VUS g.39923635C>T - JUP(NM_002230.2):c.905G>A (p.S302N) - JUP_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/., ?/? 8 5i, ? c.909+6C>T r.(=), r.(?) p.(=) - - benign, likely benign, VUS g.39923625G>A g.41767373G>A JUP(NM_002230.2):c.909+6C>T, JUP(NM_021991.2):c.909+6C>T - JUP_000070 In silico analyses: no effect, VKGL data sharing initiative Nederland Vrijenhoek, submitted - - CLASSIFICATION record, Germline/De novo (untested), Unknown ? - - - - Terry Vrijenhoek, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC, Dr. Alexandra Wey-Fabrizius
-/-, -/. 6 5i c.909+17T>C r.(=), r.(?) p.(=) - - benign g.39923614A>G g.41767362A>G JUP(NM_002230.2):c.909+17T>C, JUP(NM_021991.2):c.909+17T>C - JUP_000011 VKGL data sharing initiative Nederland PubMed: Koopmann, ARVD/C database 7594 - rs12942034 CLASSIFICATION record, Germline - - - - - Paul van der Zwaag, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/- 1 5i c.909+53C>T r.(?) p.(=) - - benign g.39923578G>A g.41767326G>A - - JUP_000012 - - - rs61669548 Germline - - - - - Paul van der Zwaag
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