Unique variants in the IL12RB1 gene

Information The variants shown are described using the NM_005535.1 transcript reference sequence.

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/+?, +/? 5 12, 14, 7i-7 c.? r.700_701insTTGGTTTGGTTCTGATTGCAG, r.? p.(?), p.(Cys474Ser), p.(Pro233_Glu234insVGLVLIA), p.? - pathogenic g.? - 1336delC, C474S, Q541X should be: Q452X? - IL12RB1_000044, IL12RB1_000188, IL12RB1_000198, IL12RB1_000201 data first reported in abstract: Ramirez-Alejo CIS2012 P398, genomic mutation not specified in article, 2 more items PubMed: Alangari 2011, PubMed: de Beaucoudrey 2010, PubMed: Ouederni 2014, PubMed: Ramirez-Alejo 2013 - - Germline, Unknown - - - - - LOVD
-?/. 1 - c.-51C>T r.(?) p.(=) - likely benign g.18197684G>A g.18086874G>A IL12RB1(NM_001290024.1):c.70C>T (p.R24C) - IL12RB1_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/? 1 1 c.-32C>T r.(?) p.(=) - VUS g.18197665G>A g.18086855G>A - - IL12RB1_000078 - - - rs146195217 Unknown - - - - - LOVD
-/., ?/? 2 1 c.-2C>T r.(?) p.(=) - benign, VUS g.18197635G>A g.18086825G>A IL12RB1(NM_005535.1):c.-2C>T - IL12RB1_000079 VKGL data sharing initiative Nederland - - rs436857 CLASSIFICATION record, Unknown - 16% - - - VKGL-NL_Groningen
?/? 1 1 c.8C>A r.(?) p.(Pro3Gln) - VUS g.18197626G>T g.18086816G>T - - IL12RB1_000080 1 more item - - rs17884651 Unknown - 0-2% - - - LOVD
+/?, +?/+?, ?/+? 4 1 c.21G>A r.(?) p.(Trp7*) - likely pathogenic, pathogenic, VUS g.18197613C>T g.18086803C>T - - IL12RB1_000081 3 more items PubMed: Louvain de Souza 2017 - rs150172855 Germline, Unknown - - - - - Enrique Medina-Acosta
+/+? 1 1i c.64+1G>T r.spl? p.? - pathogenic g.18197569C>A g.18086759C>A - - IL12RB1_000042 - PubMed: Aytekin 2011 - - Germline - - - - - LOVD
+/+, +/+? 10 1i c.64+2T>G r.spl? p.? - pathogenic g.18197568A>C g.18086758A>C - - IL12RB1_000057 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis, PubMed: de Beaucoudrey 2010, 2 more items - - Germline - - - - - LOVD
+/+? 1 1i c.64+5G>A r.spl? p.? - pathogenic g.18197565C>T g.18086755C>T - - IL12RB1_000009 1 more item PubMed: Elloumi-Zghal 2002 - - Germline - - - - - LOVD
+/+? 1 2 c.69_72del r.(?) p.(Cys24Glufs*26) - pathogenic g.18194298_18194301del g.18083488_18083491del c.65_68delCTGC - IL12RB1_000035 - PubMed: Haerynck 2008 - - Germline - - - - - LOVD
?/? 1 2 c.74G>A r.(?) p.(Arg25Lys) - VUS g.18194292C>T g.18083482C>T - - IL12RB1_000106 1 more item - - rs200783433 Unknown - - - - - LOVD
+/+, +/+? 5 2 c.94C>T r.(?) p.(Gln32*) - pathogenic g.18194272G>A g.18083462G>A Q32X, mutation not specified - IL12RB1_000001 - PubMed: de Jong 1998, PubMed: de Beaucoudrey 2010, PubMed: Fieschi 2003 - - Germline - - - - - Esther van de Vosse
?/? 1 2 c.99C>T r.(?) p.(=) - VUS g.18194267G>A g.18083457G>A - - IL12RB1_000082 - - - rs148043883 Unknown - 0.001 - - - LOVD
?/? 1 2 c.100C>T r.(?) p.(Pro34Ser) - VUS g.18194266G>A g.18083456G>A - - IL12RB1_000083 1 more item - - rs202206502 Unknown - 0.001 - - - LOVD
?/? 1 2 c.101C>T r.(?) p.(Pro34Leu) - VUS g.18194265G>A g.18083455G>A - - IL12RB1_000084 1 more item - - rs113524129 Unknown - - - - - LOVD
?/? 1 2 c.102G>A r.(?) p.(=) - VUS g.18194264C>T g.18083454C>T - - IL12RB1_000085 - - - rs146978336 Unknown - 0.4-1.1% - - - LOVD
?/? 1 2 c.105A>G r.(?) p.(=) - VUS g.18194261T>C g.18083451T>C - - IL12RB1_000086 - - - rs146629359 Unknown - 0.000 - - - LOVD
?/? 1 2 c.110C>T r.(?) p.(Pro37Leu) - VUS g.18194256G>A g.18083446G>A - - IL12RB1_000087 1 more item - - rs142484991 Unknown - 0.001 - - - LOVD
?/? 1 3 c.128C>T r.(?) p.(Ser43Leu) - VUS g.18193071G>A g.18082261G>A - - IL12RB1_000088 1 more item - - rs189309495 Unknown - 0.001 - - - LOVD
?/? 1 3 c.134C>T r.(?) p.(Ser45Leu) - VUS g.18193065G>A g.18082255G>A - - IL12RB1_000089 1 more item - - rs150070244 Unknown - 0.000 - - - LOVD
?/? 1 3 c.138C>T r.(?) p.(=) - VUS g.18193061G>A g.18082251G>A - - IL12RB1_000090 - - - rs144391404 Unknown - 0.001 - - - LOVD
?/? 1 3 c.139C>T r.(?) p.(Pro47Ser) - VUS g.18193060G>A g.18082250G>A - - IL12RB1_000091 1 more item - - rs17887176 Unknown - 1-6.7% - - - LOVD
?/? 1 3 c.152G>C r.(?) p.(Arg51Thr) - VUS g.18193047C>G g.18082237C>G - - IL12RB1_000092 1 more item - - rs150816599 Unknown - 0.000 - - - LOVD
?/+? 1 3 c.153_154insC r.(?) p.(Cys52Leufs*7) - VUS g.18193045_18193046insG g.18082235_18082236insG - - IL12RB1_000093 - - - rs34519676 Unknown - - - - - LOVD
+/+ 2 3 c.169del r.(?) p.(Ser57Valfs*73) - pathogenic g.18193030del g.18082220del 169delA - IL12RB1_000066 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis, PubMed: de Beaucoudrey 2010 - - Germline - - - - - LOVD
?/? 1 3 c.176G>A r.(?) p.(Arg59His) - VUS g.18193023C>T g.18082213C>T - - IL12RB1_000094 1 more item - - rs142273743 Unknown - 0.000 - - - LOVD
?/? 1 3 c.179A>G r.(?) p.(Tyr60Cys) - VUS g.18193020T>C g.18082210T>C - - IL12RB1_000095 1 more item - - rs140770932 Unknown - 0.000 - - - LOVD
-?/., ?/? 2 3 c.180C>T r.(?) p.(=), p.(Tyr60=) - likely benign, VUS g.18193019G>A g.18082209G>A IL12RB1(NM_001290024.1):c.300C>T (p.Y100=) - IL12RB1_000096 VKGL data sharing initiative Nederland - - rs146102898 CLASSIFICATION record, Unknown - - - - - VKGL-NL_Utrecht
?/? 1 3 c.181G>A r.(?) p.(Glu61Lys) - VUS g.18193018C>T g.18082208C>T - - IL12RB1_000097 1 more item - - rs117720235 Unknown - 0.008 - - - LOVD
+/+? 1 3 c.182A>G r.(?) p.(Glu61Gly) - pathogenic g.18193017T>C g.18082207T>C - - IL12RB1_000185 also reported in: Alejo Immunology2011 P58.5 PubMed: Ramirez-Alejo 2013 - - Germline - - - - - LOVD
+/+? 1 3 c.184T>G r.(?) p.(Cys62Gly) - pathogenic g.18193015A>C g.18082205A>C C62G, mutation not specified - IL12RB1_000067 - PubMed: de Beaucoudrey 2010 - - Germline - - - - - LOVD
+/+ 1 3 c.191G>A r.(?) p.(Trp64*) - pathogenic g.18193008C>T g.18082198C>T - - IL12RB1_000193 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - - Germline - - - - - LOVD
-/-, ?/. 2 3 c.222C>G r.(?) p.(Ser74Arg) - benign, VUS g.18192977G>C g.18082167G>C 222G>C - IL12RB1_000069 - PubMed: van de Vosse 2005, PubMed: Duvvari 2016 - rs11575925 Germline, Unknown - 0.1-0.4 - - - LOVD
+/+? 1 3 c.230T>C r.(?) p.(Leu77Pro) - pathogenic g.18192969A>G g.18082159A>G L77P, mutation not specified - IL12RB1_000028 1 more item PubMed: Fieschi 2003 - - Germline - - - - - LOVD
?/? 1 4 c.253C>T r.(?) p.(Arg85Cys) - VUS g.18191798G>A g.18080988G>A - - IL12RB1_000098 This aminoacid change is damaging according to SIFT, and benign according to Polyphen-2 predictions. - - rs138859377 Unknown - 0.000 - - - LOVD
+/+ 5 4 c.264C>G r.(?) p.(Tyr88*) - pathogenic g.18191787G>C g.18080977G>C published as Y88X - IL12RB1_000192 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis, PubMed: de Beaucoudrey 2010 - - Germline - - - - - LOVD
?/? 1 4 c.268G>A r.(?) p.(Ala90Thr) - VUS g.18191783C>T g.18080973C>T - - IL12RB1_000099 1 more item - - rs144128347 Unknown - 0.000 - - - LOVD
?/? 1 4 c.270C>T r.(?) p.(=) - VUS g.18191781G>A g.18080971G>A - - IL12RB1_000100 - - - rs199719163 Unknown - - - - - LOVD
-?/-? 1 4 c.271G>A r.(?) p.(Ala91Thr) - likely benign g.18191780C>T g.18080970C>T - - IL12RB1_000070 nno effect on IL-12 response in retroviral expression model (van de Vosse unpublished) - - rs147215816 Unknown - n.a. - - - LOVD
-?/., ?/? 2 4 c.273C>T r.(?) p.(=), p.(Ala91=) - likely benign, VUS g.18191778G>A g.18080968G>A IL12RB1(NM_001290024.1):c.393C>T (p.A131=) - IL12RB1_000101 VKGL data sharing initiative Nederland - - rs138087003 CLASSIFICATION record, Unknown - 0.001 - - - VKGL-NL_Rotterdam
?/? 1 4 c.279A>G r.(?) p.(=) - VUS g.18191772T>C g.18080962T>C - - IL12RB1_000102 - - - rs138099877 Unknown - 0.000 - - - LOVD
?/+? 1 4 c.288del r.(?) p.(Arg96Serfs*34) - VUS g.18191764del g.18080954del - - IL12RB1_000103 - - - rs34466489 Unknown - - - - - LOVD
?/? 1 4 c.300C>T r.(?) p.(=) - VUS g.18191751G>A g.18080941G>A - - IL12RB1_000104 - - - rs147419888 Unknown - 0.000 - - - LOVD
?/. 1 - c.301G>A r.(?) p.(Asp101Asn) - VUS g.18191750C>T g.18080940C>T - - IL12RB1_000225 - - - rs748586854 Germline ? - - - - Mariona Terradas
?/? 1 4 c.320T>C r.(?) p.(Val107Ala) - VUS g.18191731A>G g.18080921A>G - - IL12RB1_000105 This aminoacid change is damaging according to SIFT, and benign according to Polyphen-2 predictions. - - rs150285174 Unknown - 0.000 - - - LOVD
+/+? 1 4 c.350C>A r.(?) p.(Ser117Tyr) - pathogenic g.18191701G>T g.18080891G>T not published (inferred) - IL12RB1_000200 - PubMed: Schepers 2013 - - Germline - - - - - LOVD
?/? 1 4 c.387G>C r.(?) p.(=) - VUS g.18191664C>G g.18080854C>G - - IL12RB1_000107 - - - rs11086087 Unknown - 1.7-20% - - - LOVD
?/? 1 4 c.390C>T r.(?) p.(=) - VUS g.18191661G>A g.18080851G>A - - IL12RB1_000108 - - - rs201723337 Unknown - 0.002 - - - LOVD
+/+? 1 4 c.402C>A r.(?) p.(Tyr134*) - pathogenic g.18191649G>T g.18080839G>T - - IL12RB1_000038 protein change published as: p.Y133X PubMed: Luangwedchakarn 2009 - - Germline - - - - - LOVD
-/-, -/., -?/. 4 5 c.467G>A r.(?) p.(Arg156His) - benign, likely benign g.18188408C>T g.18077598C>T IL12RB1(NM_005535.1):c.467G>A (p.R156H) - IL12RB1_000071 VKGL data sharing initiative Nederland PubMed: van de Vosse 2005 - rs11575926 CLASSIFICATION record, Unknown - 0-20% - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/+? 1 5 c.467_483del r.410_549del p.(Val137Glyfs*8) - pathogenic g.18188393_18188409del g.18077583_18077599del - - IL12RB1_000030 - PubMed: Lichtenauer-Kaligis 2003 - - Germline - - - - - Esther van de Vosse
+/+, +/+? 3 5 c.512A>C r.(?) p.(Gln171Pro) - pathogenic g.18188363T>G g.18077553T>G Q171P, mutation not specified - IL12RB1_000026 - PubMed: Alinejad Dizaj 2018, PubMed: Fieschi 2003 - - Germline - - - - - LOVD
+/+, +/+? 5 5 c.517C>T r.(?) p.(Arg173Trp) - pathogenic g.18188358G>A g.18077548G>A R173W, mutation not specified - IL12RB1_000043 mutation not specified but most likely c.517C>T PubMed: Alinejad Dizaj 2018, PubMed: Boisson-Dupuis 2011, PubMed: de Beaucoudrey 2010 - - Germline - - - - - LOVD
+/+, +/+? 6 5 c.518G>C r.(?), r.518G>C p.(Arg173Pro), p.Arg173Pro - pathogenic g.18188357C>G g.18077547C>G R173P, mutation not specified - IL12RB1_000007 - PubMed: Kutukculer 2006, PubMed: Sanal 2006, PubMed: van de Vosse 2010, PubMed: Aksu 2001, 2 more items - - Germline - - - - - Esther van de Vosse
+/+, +/+? 6 5 c.523C>T r.(?) p.(Arg175Trp) - pathogenic g.18188352G>A g.18077542G>A 670C>T, n.a., R175W, mutation not specified - IL12RB1_000033 data not published yet personal communication Ozden Sanal, PubMed: de Beaucoudrey 2010, PubMed: Ozen 2006, PubMed: Tan 2016 - - Germline - - - - - LOVD
?/? 1 5 c.548T>C r.(?) p.(Leu183Ser) - VUS g.18188327A>G g.18077517A>G - - IL12RB1_000109 1 more item - - rs200328413 Unknown - - - - - LOVD
+/+? 1 5i c.549+2T>C r.spl? p.(fs*) - pathogenic g.18188324A>G g.18077514A>G - - IL12RB1_000024 - PubMed: Fieschi 2003 - - Germline - - - - - LOVD
+/+? 1 5i c.550-2A>G r.spl? p.? - pathogenic g.18187139T>C g.18076329T>C - - IL12RB1_000008 substitution, affects splicing {PMID 11992283:Elloumi-Zghal 2002} - - Germline - - - - - LOVD
?/? 1 6 c.552C>T r.(?) p.(=) - VUS g.18187135G>A g.18076325G>A - - IL12RB1_000110 - - - rs193097863 Unknown - 0.001 - - - LOVD
+/+, +/+? 5 6 c.556T>A r.(?) p.(Cys186Ser) - pathogenic g.18187131A>T g.18076321A>T C186S, mutation not specified - IL12RB1_000020 - PubMed: de Beaucoudrey 2010, PubMed: Elhayel 2008, PubMed: Fieschi 2003 - - Germline, Unknown - - - - - LOVD
+/+, +/+? 3 6 c.557G>A r.(?) p.(Cys186Tyr) - pathogenic g.18187130C>T g.18076320C>T - - IL12RB1_000039 - personal communication Ben Zion Garty, PubMed: Vinh 2011, 1 more item - - Germline - - - - - LOVD
+/+ 2 6 c.557_563delinsAGATATCA r.(?) p.(splicing) - pathogenic g.18187124_18187130delinsTGATATCT g.18076314_18076320delinsTGATATCT c.557_563delins8 - IL12RB1_000064 - PubMed: de Jong 1998, PubMed: Fieschi 2003 - - Germline - - - - - Esther van de Vosse
+/+ 1 6 c.558C>A r.(?) p.(Cys186*) - pathogenic g.18187129G>T g.18076319G>T - - IL12RB1_000194 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - - Germline - - - - - LOVD
?/? 1 6 c.561A>T r.(?) p.(=) - VUS g.18187126T>A g.18076316T>A - - IL12RB1_000111 - - - rs200542111 Unknown - 0.001 - - - LOVD
+/+? 1 6i c.580+1G>A r.spl? p.? - pathogenic g.18187106C>T g.18076296C>T - - IL12RB1_000049 - PubMed: de Beaucoudrey 2010 - - Germline - - - - - LOVD
+/+ 4 7 c.592T>C r.(?) p.(Cys198Arg) - pathogenic g.18186667A>G g.18075857A>G C198R, mutation not specified - IL12RB1_000012 this mutation leads to a partial deficiency, see {PMID 16293671: van de Vosse 2005}, 1 more item PubMed: de Beaucoudrey 2008, PubMed: de Beaucoudrey 2010, PubMed: Lichtenauer-Kaligis 2003 - - Germline, Unknown - - - - - Esther van de Vosse
?/? 1 7 c.596C>G r.(?) p.(Pro199Arg) - VUS g.18186663G>C g.18075853G>C - - IL12RB1_000112 1 more item - - rs201652727 Unknown - - - - - LOVD
?/? 1 7 c.597C>A r.(?) p.(=) - VUS g.18186662G>T g.18075852G>T - - IL12RB1_000113 - - - rs141341557 Unknown - 0.001 - - - LOVD
+/+? 1 7 c.601G>C r.(?) p.(Glu201Gln) - pathogenic g.18186658C>G g.18075848C>G - - IL12RB1_000196 - - - - Germline - - - - - LOVD
?/? 1 7 c.602A>C r.(?) p.(Glu201Ala) - VUS g.18186657T>G g.18075847T>G - - IL12RB1_000114 1 more item - - rs139505765 Unknown - 0.006 - - - LOVD
?/? 1 7 c.605T>G r.(?) p.(Met202Arg) - VUS g.18186654A>C g.18075844A>C - - IL12RB1_000115 1 more item - - rs182250241 Unknown - - - - - LOVD
?/? 1 7 c.612G>A r.(?) p.(=) - VUS g.18186647C>T g.18075837C>T - - IL12RB1_000116 - - - rs142934088 Unknown - 0.000 - - - LOVD
+/+, +/+? 2 7 c.625C>T r.(?) p.(Gln209*) - pathogenic g.18186634G>A g.18075824G>A - - IL12RB1_000062 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis, 1 more item - - Germline - - - - - LOVD
+/+, +/+? 2 7 c.628_644dup r.(?) p.(Gly216Serfs*32) - pathogenic g.18186615_18186631dup g.18075805_18075821dup - - IL12RB1_000032 - PubMed: Tanir 2006 - - Germline, Unknown - - - - - LOVD
+/+, +?/. 2 7 c.631C>T r.(?) p.(Arg211*) - pathogenic, VUS g.18186628G>A g.18075818G>A - - IL12RB1_000191 - PubMed: Gokturk 2016 - rs769520126 Germline ? - - - - Mariona Terradas
+/+? 2 7 c.632G>C r.(?) p.(Arg211Pro) - pathogenic g.18186627C>G g.18075817C>G 696G>C, R211P, mutation not specified - IL12RB1_000034 - PubMed: de Beaucoudrey 2010, PubMed: Lee 2009 - - Germline - - - - - LOVD
?/+? 1 7 c.633del r.(?) p.(Arg212Aspfs*30) - VUS g.18186626del g.18075816del - - IL12RB1_000117 - - - rs150522661 Unknown - 0.000 - - - LOVD
+/. 1 - c.634C>T r.(?) p.(Arg212Ter) - pathogenic g.18186625G>A g.18075815G>A - - IL12RB1_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+, +/+? 3 7 c.637C>T r.(?) p.(Arg213Trp) - pathogenic g.18186622G>A g.18075812G>A 701C>T - IL12RB1_000006 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis, PubMed: Altare 2001, 1 more item - - Germline - - - - - LOVD
-/-, -/., -?/. 4 7 c.641A>G r.(?) p.(Gln214Arg) - benign, likely benign g.18186618T>C g.18075808T>C IL12RB1(NM_005535.1):c.641A>G (p.Q214R) - IL12RB1_000072 VKGL data sharing initiative Nederland PubMed: van de Vosse 2005 - rs11575934 CLASSIFICATION record, Unknown - 10-38% - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/? 1 7 c.653A>C r.(?) p.(Gln218Pro) - VUS g.18186606T>G g.18075796T>G - - IL12RB1_000118 1 more item - - rs148994509 Unknown - 0.000 - - - LOVD
+/+? 1 7 c.658A>T r.(?) p.(Ser220Cys) - pathogenic g.18186601T>A g.18075791T>A - - IL12RB1_000186 - PubMed: Ramirez-Alejo 2013 - - Germline - - - - - LOVD
-/., -?/-? 3 7 c.684C>T r.(?) p.(=), p.(Pro228=) - benign, likely benign g.18186575G>A g.18075765G>A IL12RB1(NM_005535.1):c.684C>T (p.P228=) - IL12RB1_000119 VKGL data sharing initiative Nederland - - rs17852635 CLASSIFICATION record, Unknown - 7.6-38.4% - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/? 1 7 c.687G>T r.(?) p.(=) - VUS g.18186572C>A g.18075762C>A - - IL12RB1_000120 - - - rs149768779 Unknown - 0.000 - - - LOVD
?/? 1 7 c.691G>A r.(?) p.(Val231Ile) - VUS g.18186568C>T g.18075758C>T - - IL12RB1_000121 1 more item - - rs140762977 Unknown - 0.000 - - - LOVD
?/? 1 7 c.694C>T r.(?) p.(Pro232Ser) - VUS g.18186565G>A g.18075755G>A - - IL12RB1_000122 1 more item - - rs201567666 Unknown - - - - - LOVD
?/., ?/? 2 7 c.695C>T r.(?) p.(Pro232Leu) - VUS g.18186564G>A g.18075754G>A - - IL12RB1_000123 1 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs147436538 Germline, Unknown - 0.001, 1/2794 individuals - - - Mohammed Faruq
+/+, +/+? 3 7i-13i c.700+362_1619-944del r.? p.(Asn235_Glu540del) - pathogenic g.18174031_18186197del - genomic deletion of exon 8-13 - IL12RB1_000018 2 more items PubMed: de Beaucoudrey 2010, PubMed: Scheuerman 2007, PubMed: Staretz-Haham 2003 - - Germline - - - - - LOVD
+/+? 1 8 c.710del r.(?) p.(Pro237Hisfs*5) - pathogenic g.18184405del g.18073595del - - IL12RB1_000063 - PubMed: Jinapongsananuruk 2012 - - Germline - - - - - LOVD
+/+? 1 8 c.710dup r.(?) p.(Gln238Thrfs*57) - pathogenic g.18184405dup g.18073595dup 711insC - IL12RB1_000031 - PubMed: Tanir 2006 - - Unknown - - - - - LOVD
?/? 1 8 c.712C>G r.(?) p.(Gln238Glu) - VUS g.18184398G>C g.18073588G>C - - IL12RB1_000124 1 more item - - rs200977237 Unknown - 0.001 - - - LOVD
?/? 1 8 c.731C>T r.(?) p.(Ser244Leu) - VUS g.18184379G>A g.18073569G>A - - IL12RB1_000125 1 more item - - rs200203598 Unknown - 0.001 - - - LOVD
?/? 1 8 c.732G>T r.(?) p.(=) - VUS g.18184378C>A g.18073568C>A - - IL12RB1_000126 - - - rs145487261 Unknown - 0.000 - - - LOVD
-?/., ?/? 2 8 c.735G>A r.(?) p.(=), p.(Val245=) - likely benign, VUS g.18184375C>T g.18073565C>T IL12RB1(NM_001290024.1):c.855G>A (p.V285=) - IL12RB1_000127 VKGL data sharing initiative Nederland - - rs17878522 CLASSIFICATION record, Unknown - 0.002-0.022 - - - VKGL-NL_Rotterdam
?/? 1 8 c.753T>C r.(?) p.(=) - VUS g.18184357A>G g.18073547A>G - - IL12RB1_000128 - - - rs112771181 Unknown - - - - - LOVD
?/? 1 8 c.772C>G r.(?) p.(Leu258Val) - VUS g.18184338G>C g.18073528G>C - - IL12RB1_000129 1 more item - - rs138189707 Unknown - 0.000 - - - LOVD
+/+, +/+? 14 8i c.783+1G>A r.spl? p.(?), p.(fs*), p.? - pathogenic g.18184326C>T g.18073516C>T exon 8+1 G>A - IL12RB1_000011 data not published yet, splice effect: skip exon 8 or both exon 5 and 8, 2 more items personal communication Ozden Sanal, Zinovieva ESID2012 P605, PubMed: Lichtenauer-Kaligis 2003, 7 more items - - Germline, Unknown - - - - - Esther van de Vosse
+/+ 1 8i c.783+1G>C r.spl? p.(?) - pathogenic g.18184326C>G g.18073516C>G - - IL12RB1_000068 mutation affects splicing of exon 8 PubMed: Altare 1998 - - Germline - - - - - LOVD
-/., -?/. 2 - c.783+10C>T r.(=) p.(=) - benign, likely benign g.18184317G>A g.18073507G>A IL12RB1(NM_005535.1):c.783+10C>T - IL12RB1_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.793C>T r.(?) p.(Leu265=) - likely benign g.18183150G>A g.18072340G>A IL12RB1(NM_001290024.1):c.913C>T (p.L305=) - IL12RB1_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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