Full data view for gene IL12RB1

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

357 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     
+/+? 7i-7 c.? r.700_701insTTGGTTTGGTTCTGATTGCAG p.(Pro233_Glu234insVGLVLIA) Both (homozygous) - pathogenic g.? - - - IL12RB1_000188 data first reported in abstract: Ramirez-Alejo CIS2012 P398 PubMed: Ramirez-Alejo 2013 - - Germline - - - 0 - RNA SEQ - - IMD-30 - PubMed: Ramirez-Alejo 2013 A sister died of sepsis 40 days after birth, no gnetic analysis performed at the time.; This patient first reported in abstract: Ramirez-Alejo CIS2012 P398 F no Mexico - - 0 - - 1 LOVD
+/+? 12 c.? r.? p.(?) Both (homozygous) - pathogenic g.? - 1336delC - IL12RB1_000044 position 1336 is a G not a C therefore exact location of mutation is unclear PubMed: Alangari 2011 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: Alangari 2011 1 family 2 patients; brother of index pateint also affected F no Saudi Arabia - - 0 - - 2 LOVD
+/+? 12 c.? r.? p.(?) Both (homozygous) - pathogenic g.? - 1336delC - IL12RB1_000044 position 1336 is a G not a C therefore exact location of mutation is unclear PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: de Beaucoudrey 2010 - M no Saudi Arabia - - 0 - - 2 LOVD
+/? 12 c.? r.? p.(Cys474Ser) Both (homozygous) - pathogenic g.? - C474S - IL12RB1_000201 genomic mutation not specified in article - - - Unknown - - - 0 - ? ? - - IMD-30 - PubMed: Ouederni 2014 - M ? Brazil - - 0 - - 1 LOVD
+/+? 14 c.? r.? p.? Unknown - pathogenic g.? - Q541X should be: Q452X? - IL12RB1_000198 note: no Q at position 541 PubMed: Ouederni 2014 - - Unknown - - - 0 - ? ? - - IMD-30 - PubMed: Ouederni 2014 - M - - - - 0 - - 1 LOVD
-?/. - c.-51C>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.-32C>T r.(?) p.(=) Unknown - VUS g.18197665G>A g.18086855G>A - - IL12RB1_000078 - - - rs146195217 Unknown - - - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
-/. - c.-2C>T r.(?) p.(=) Unknown - benign g.18197635G>A g.18086825G>A IL12RB1(NM_005535.1):c.-2C>T - IL12RB1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 1 c.-2C>T r.(?) p.(=) Unknown - VUS g.18197635G>A g.18086825G>A - - IL12RB1_000079 - - - rs436857 Unknown - 16% - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 1 c.8C>A r.(?) p.(Pro3Gln) Unknown - VUS g.18197626G>T g.18086816G>T - - IL12RB1_000080 This aminoacid change is tolerated according to SIFT and possibly damaging according to Polyphen-2 predictions - - rs17884651 Unknown - 0-2% - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 1 c.21G>A r.(?) p.(Trp7*) Unknown - VUS g.18197613C>T g.18086803C>T - - IL12RB1_000081 - - - rs150172855 Unknown - - - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+?/+? 1 c.21G>A r.(?) p.(Trp7*) Both (homozygous) - likely pathogenic g.18197613C>T g.18086803C>T - - IL12RB1_000081 There is a stop-gain effect as the protein is detectable on the cell surface in reduced amounts. Probably a partial mutation although the IL-12 response has not been determined; in SNP database as rs150172855 PubMed: Louvain de Souza 2017 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Louvain de Souza 2017 1 family 2 patients; before publication in database as: UENF - Family 830 (F1) M no Brazil - - 0 - - 2 Enrique Medina-Acosta
+/? 1 c.21G>A r.(?) p.(Trp7*) Both (homozygous) - pathogenic g.18197613C>T g.18086803C>T - - IL12RB1_000081 There is a stop-gain effect as the protein is detectable on the cell surface in reduced amounts. Probably a partial mutation although the IL-12 response has not been determined. In SNP database as rs150172855 PubMed: Louvain de Souza 2017 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Louvain de Souza 2017 before publication this individual was in the database as: UENF - Family 1212 (F1) M no Brazil - - 0 - - 1 Enrique Medina-Acosta
+?/+? 1 c.21G>A r.(?) p.(Trp7*) Both (homozygous) - likely pathogenic g.18197613C>T g.18086803C>T - - IL12RB1_000081 There is a stop-gain effect as the protein is detectable on the cell surface in reduced amounts. Probably a partial mutation although the IL-12 response has not been determined. In SNP database as: rs150172855 PubMed: Louvain de Souza 2017 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Louvain de Souza 2017 this patient was previously entered in the database as: UENF - Family 1528 (F1) M yes Brazil - - 0 - - 1 Enrique Medina-Acosta
+/+? 1i c.64+1G>T r.spl? p.? Both (homozygous) - pathogenic g.18197569C>A g.18086759C>A - - IL12RB1_000042 - PubMed: Aytekin 2011 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Aytekin 2011 - M yes Turkey - - 0 - - 1 LOVD
+/+? 1i c.64+2T>G r.spl? p.? Both (homozygous) - pathogenic g.18197568A>C g.18086758A>C - - IL12RB1_000057 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: de Beaucoudrey 2010 - M yes Turkey - - 0 - - 1 LOVD
+/+? 1i c.64+2T>G r.spl? p.? Both (homozygous) - pathogenic g.18197568A>C g.18086758A>C - - IL12RB1_000057 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: de Beaucoudrey 2010 - M yes Turkey - - 0 - - 1 LOVD
+/+? 1i c.64+2T>G r.spl? p.? Both (homozygous) - pathogenic g.18197568A>C g.18086758A>C - - IL12RB1_000057 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: de Beaucoudrey 2010 - M yes Tunisia - - 0 - - 1 LOVD
+/+ 1i c.64+2T>G r.spl? p.? Both (homozygous) - pathogenic g.18197568A>C g.18086758A>C - - IL12RB1_000057 - personal communication Ozden Sanal - - Germline - - - 0 - DNA SEQ - - IMD-30 - personal communication Ozden Sanal 1 family 2 patients; data not published yet - yes Turkey - - 0 - - 2 LOVD
+/+ 1i c.64+2T>G r.spl? p.? Both (homozygous) - pathogenic g.18197568A>C g.18086758A>C - - IL12RB1_000057 - personal communication Ozden Sanal - - Germline - - - 0 - DNA SEQ - - IMD-30 - personal communication Ozden Sanal data not published yet - yes Turkey - - 0 - - 1 LOVD
+/+ 1i c.64+2T>G r.spl? p.? Both (homozygous) - pathogenic g.18197568A>C g.18086758A>C - - IL12RB1_000057 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - - Germline - - - 0 - DNA SEQ - - IMD-30 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - M yes Turkey - - 0 - - 1 LOVD
+/+ 1i c.64+2T>G r.spl? p.? Both (homozygous) - pathogenic g.18197568A>C g.18086758A>C - - IL12RB1_000057 - PubMed: Tan 2016 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Tan 2016 - M yes Turkey - - 0 - - 1 LOVD
+/+ 1i c.64+2T>G r.spl? p.? Both (homozygous) - pathogenic g.18197568A>C g.18086758A>C - - IL12RB1_000057 - PubMed: Tan 2016 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Tan 2016 - M yes Turkey - - 0 - - 1 LOVD
+/+ 1i c.64+2T>G r.spl? p.? Both (homozygous) - pathogenic g.18197568A>C g.18086758A>C - - IL12RB1_000057 - PubMed: Tan 2016 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Tan 2016 - M yes Turkey - - 0 - - 1 LOVD
+/+ 1i c.64+2T>G r.spl? p.? Both (homozygous) - pathogenic g.18197568A>C g.18086758A>C - - IL12RB1_000057 - PubMed: Tan 2016 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Tan 2016 - M yes Turkey - - 0 - - 1 LOVD
+/+? 1i c.64+5G>A r.spl? p.? Both (homozygous) - pathogenic g.18197565C>T g.18086755C>T - - IL12RB1_000009 substitution, affects splicing. One mRNA use cryptic splicing site in intron 1, thus including 52 bp of intron 1 and another cryptic exon. Other mRNA use cryptic splice site in intron 1 thus including 441 bp of intron 1 and excluding ex2-5 PubMed: Elloumi-Zghal 2002 - - Germline - - - 0 - RNA RT-PCR - - IMD-30 - PubMed: Elloumi-Zghal 2002 - M yes Tunisia - - 0 - - 1 LOVD
+/+? 2 c.69_72del r.(?) p.(Cys24Glufs*26) Unknown - pathogenic g.18194298_18194301del g.18083488_18083491del c.65_68delCTGC - IL12RB1_000035 - PubMed: Haerynck 2008 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Haerynck 2008 - F no Belgium - - 0 - - 1 LOVD
?/? 2 c.74G>A r.(?) p.(Arg25Lys) Unknown - VUS g.18194292C>T g.18083482C>T - - IL12RB1_000106 This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions. - - rs200783433 Unknown - - - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+ 2 c.94C>T r.(?) p.(Gln32*) Unknown - pathogenic g.18194272G>A g.18083462G>A Q32X, mutation not specified - IL12RB1_000001 - PubMed: Fieschi 2003 - - Germline - - - 0 - DNA SSCA - - IMD-30 - PubMed: Fieschi 2003 12591909-17.II-1 asymptomatic brother with same mutations M no France - - 0 - - 1 LOVD
+/+? 2 c.94C>T r.(?) p.(Gln32*) Both (homozygous) - pathogenic g.18194272G>A g.18083462G>A Q32X, mutation not specified - IL12RB1_000001 - PubMed: Fieschi 2003 - - Germline - - - 0 - DNA SSCA - - IMD-30 - PubMed: Fieschi 2003 - F no France - - 0 - - 1 LOVD
+/+? 2 c.94C>T r.(?) p.(Gln32*) Both (homozygous) - pathogenic g.18194272G>A g.18083462G>A Q32X, mutation not specified - IL12RB1_000001 - PubMed: Fieschi 2003 - - Germline - - - 0 - DNA SSCA - - IMD-30 - PubMed: Fieschi 2003 12591909-21.II.1 asymptomatic sister with same mutation F no Belgium - - 0 - - 1 LOVD
+/+? 2 c.94C>T r.(?) p.(Gln32*) Both (homozygous) - pathogenic g.18194272G>A g.18083462G>A Q32X, mutation not specified - IL12RB1_000001 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: de Beaucoudrey 2010 - F yes United Kingdom (Great Britain) - - 0 - - 1 LOVD
+/+ 2 c.94C>T r.(?) p.(Gln32*) Both (homozygous) - pathogenic g.18194272G>A g.18083462G>A - - IL12RB1_000001 - PubMed: de Jong 1998 - - Germline - - - 0 - RNA SEQ - - IMD-30 - PubMed: de Jong 1998 - F no Netherlands - - 0 - - 1 Esther van de Vosse
?/? 2 c.99C>T r.(?) p.(=) Unknown - VUS g.18194267G>A g.18083457G>A - - IL12RB1_000082 - - - rs148043883 Unknown - 0.001 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 2 c.100C>T r.(?) p.(Pro34Ser) Unknown - VUS g.18194266G>A g.18083456G>A - - IL12RB1_000083 This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions. - - rs202206502 Unknown - 0.001 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 2 c.101C>T r.(?) p.(Pro34Leu) Unknown - VUS g.18194265G>A g.18083455G>A - - IL12RB1_000084 This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions. - - rs113524129 Unknown - - - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 2 c.102G>A r.(?) p.(=) Unknown - VUS g.18194264C>T g.18083454C>T - - IL12RB1_000085 - - - rs146978336 Unknown - 0.4-1.1% - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 2 c.105A>G r.(?) p.(=) Unknown - VUS g.18194261T>C g.18083451T>C - - IL12RB1_000086 - - - rs146629359 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 2 c.110C>T r.(?) p.(Pro37Leu) Unknown - VUS g.18194256G>A g.18083446G>A - - IL12RB1_000087 This aminoacid change is tolerated according to SIFT, and possibly damaging according to Polyphen-2 predictions. - - rs142484991 Unknown - 0.001 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 3 c.128C>T r.(?) p.(Ser43Leu) Unknown - VUS g.18193071G>A g.18082261G>A - - IL12RB1_000088 This aminoacid change is damaging according to SIFT, and possibly damaging according to Polyphen-2 predictions. - - rs189309495 Unknown - 0.001 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 3 c.134C>T r.(?) p.(Ser45Leu) Unknown - VUS g.18193065G>A g.18082255G>A - - IL12RB1_000089 This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions. - - rs150070244 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 3 c.138C>T r.(?) p.(=) Unknown - VUS g.18193061G>A g.18082251G>A - - IL12RB1_000090 - - - rs144391404 Unknown - 0.001 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 3 c.139C>T r.(?) p.(Pro47Ser) Unknown - VUS g.18193060G>A g.18082250G>A - - IL12RB1_000091 This aminoacid change is damaging according to SIFT, and probably damaging according to Polyphen-2 predictions. - - rs17887176 Unknown - 1-6.7% - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 3 c.152G>C r.(?) p.(Arg51Thr) Unknown - VUS g.18193047C>G g.18082237C>G - - IL12RB1_000092 This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions. - - rs150816599 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 3 c.153_154insC r.(?) p.(Cys52Leufs*7) Unknown - VUS g.18193045_18193046insG g.18082235_18082236insG - - IL12RB1_000093 - - - rs34519676 Unknown - - - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+ 3 c.169del r.(?) p.(Ser57Valfs*73) Parent #1 - pathogenic g.18193030del g.18082220del 169delA - IL12RB1_000066 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: de Beaucoudrey 2010 - M no Chile - - 0 - - 1 LOVD
+/+ 3 c.169del r.(?) p.(Ser57Valfs*73) Both (homozygous) - pathogenic g.18193030del g.18082220del - - IL12RB1_000066 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Strickler 2014 and personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis initially entered in the database as: Rockefeller -family 5 M no Chile - - 0 - - 1 LOVD
?/? 3 c.176G>A r.(?) p.(Arg59His) Unknown - VUS g.18193023C>T g.18082213C>T - - IL12RB1_000094 This aminoacid change is tolerated according to SIFT, and benign according to Polyphen-2 predictions. - - rs142273743 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 3 c.179A>G r.(?) p.(Tyr60Cys) Unknown - VUS g.18193020T>C g.18082210T>C - - IL12RB1_000095 This aminoacid change is damagingaccording to SIFT, and probably damaging according to Polyphen-2 predictions. - - rs140770932 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 3 c.180C>T r.(?) p.(=) Unknown - VUS g.18193019G>A g.18082209G>A - - IL12RB1_000096 - - - rs146102898 Unknown - - - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
-?/. - c.180C>T r.(?) p.(Tyr60=) Unknown - likely benign g.18193019G>A g.18082209G>A IL12RB1(NM_001290024.1):c.300C>T (p.Y100=) - IL12RB1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.181G>A r.(?) p.(Glu61Lys) Unknown - VUS g.18193018C>T g.18082208C>T - - IL12RB1_000097 This aminoacid change is tolerated according to SIFT, and probably damaging according to Polyphen-2 predictions. - - rs117720235 Unknown - 0.008 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+? 3 c.182A>G r.(?) p.(Glu61Gly) Both (homozygous) - pathogenic g.18193017T>C g.18082207T>C - - IL12RB1_000185 also reported in: Alejo Immunology2011 P58.5 PubMed: Ramirez-Alejo 2013 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: Ramirez-Alejo 2013 also reported in: Ramirez-Alejo Immunology2011 P58.5 M yes Mexico - - 0 - - 1 LOVD
+/+? 3 c.184T>G r.(?) p.(Cys62Gly) Parent #2 - pathogenic g.18193015A>C g.18082205A>C C62G, mutation not specified - IL12RB1_000067 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: de Beaucoudrey 2010 - M no Chile - - 0 - - 1 LOVD
+/+ 3 c.191G>A r.(?) p.(Trp64*) Both (homozygous) - pathogenic g.18193008C>T g.18082198C>T - - IL12RB1_000193 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - - Germline - - - 0 - DNA SEQ - - IMD-30 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - F ? Turkey - - 0 - - 2 LOVD
-/- 3 c.222C>G r.(?) p.(Ser74Arg) Unknown - benign g.18192977G>C g.18082167G>C - - IL12RB1_000069 - PubMed: van de Vosse 2005 - rs11575925 Unknown - 0.1-0.4 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/. - c.222C>G r.(?) p.(Ser74Arg) Unknown - VUS g.18192977G>C g.18082167G>C 222G>C - IL12RB1_000069 - PubMed: Duvvari 2016 - rs11575925 Germline - - - 0 - DNA SEQ, SEQ-NG - WES retinal disease Pat1AB PubMed: Duvvari 2016 patient - - - white - 0 - - 1 LOVD
+/+? 3 c.230T>C r.(?) p.(Leu77Pro) Both (homozygous) - pathogenic g.18192969A>G g.18082159A>G L77P, mutation not specified - IL12RB1_000028 detectable on membrane with antibody 2B10, not with antibody 2.4E6 {PMID 16293671: van de Vosse 2005} {PMID 21057261: de Beaucoudrey 2010} PubMed: Fieschi 2003 - - Germline - - - 0 - DNA SSCA - - IMD-30 - PubMed: Fieschi 2003 - M no Brazil - - 0 - - 1 LOVD
?/? 4 c.253C>T r.(?) p.(Arg85Cys) Unknown - 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 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+ 4 c.264C>G r.(?) p.(Tyr88*) Both (homozygous) - pathogenic g.18191787G>C g.18080977G>C published as Y88X - IL12RB1_000192 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: de Beaucoudrey 2010 - M yes Saudi Arabia - - 0 - - 2 LOVD
+/+ 4 c.264C>G r.(?) p.(Tyr88*) Both (homozygous) - pathogenic g.18191787G>C g.18080977G>C published as Y88X - IL12RB1_000192 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: de Beaucoudrey 2010 - F yes Saudi Arabia - - 0 - - 1 LOVD
+/+ 4 c.264C>G r.(?) p.(Tyr88*) Both (homozygous) - pathogenic g.18191787G>C g.18080977G>C published as Y88X - IL12RB1_000192 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: de Beaucoudrey 2010 - M yes Saudi Arabia - - 0 - - 1 LOVD
+/+ 4 c.264C>G r.(?) p.(Tyr88*) Both (homozygous) - pathogenic g.18191787G>C g.18080977G>C published as Y88X - IL12RB1_000192 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: de Beaucoudrey 2010 - ? yes Saudi Arabia - - 0 - - 2 LOVD
+/+ 4 c.264C>G r.(?) p.(Tyr88*) Both (homozygous) - pathogenic g.18191787G>C g.18080977G>C - - IL12RB1_000192 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - - Germline - - - 0 - DNA SEQ - - IMD-30 - personal communication Jacinta Bustamante & Stephanie Boisson-Dupuis - M yes - - - 0 - - 1 LOVD
?/? 4 c.268G>A r.(?) p.(Ala90Thr) Unknown - VUS g.18191783C>T g.18080973C>T - - IL12RB1_000099 This aminoacid change is tolerated according to SIFT, and possilbly damaging according to Polyphen-2 predictions. - - rs144128347 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 4 c.270C>T r.(?) p.(=) Unknown - VUS g.18191781G>A g.18080971G>A - - IL12RB1_000100 - - - rs199719163 Unknown - - - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
-?/-? 4 c.271G>A r.(?) p.(Ala91Thr) Unknown - 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. - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
-?/. - c.273C>T r.(?) p.(Ala91=) Unknown - likely benign g.18191778G>A g.18080968G>A IL12RB1(NM_001290024.1):c.393C>T (p.A131=) - IL12RB1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 4 c.273C>T r.(?) p.(=) Unknown - VUS g.18191778G>A g.18080968G>A - - IL12RB1_000101 - - - rs138087003 Unknown - 0.001 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 4 c.279A>G r.(?) p.(=) Unknown - VUS g.18191772T>C g.18080962T>C - - IL12RB1_000102 - - - rs138099877 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/+? 4 c.288del r.(?) p.(Arg96Serfs*34) Unknown - VUS g.18191764del g.18080954del - - IL12RB1_000103 - - - rs34466489 Unknown - - - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 4 c.300C>T r.(?) p.(=) Unknown - VUS g.18191751G>A g.18080941G>A - - IL12RB1_000104 - - - rs147419888 Unknown - 0.000 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/. - c.301G>A r.(?) p.(Asp101Asn) Unknown - VUS g.18191750C>T g.18080940C>T - - IL12RB1_000225 - - - rs748586854 Germline ? - - 0 - DNA PCR blood - HNPCC - - - ? - Spain European Non-Finish - - - - 1 Mariona Terradas
?/? 4 c.320T>C r.(?) p.(Val107Ala) Unknown - 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 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+? 4 c.350C>A r.(?) p.(Ser117Tyr) Maternal (confirmed) - pathogenic g.18191701G>T g.18080891G>T not published (inferred) - IL12RB1_000200 - PubMed: Schepers 2013 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Schepers 2013 - F no Belgium - - 0 - - 1 LOVD
?/? 4 c.387G>C r.(?) p.(=) Unknown - VUS g.18191664C>G g.18080854C>G - - IL12RB1_000107 - - - rs11086087 Unknown - 1.7-20% - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
?/? 4 c.390C>T r.(?) p.(=) Unknown - VUS g.18191661G>A g.18080851G>A - - IL12RB1_000108 - - - rs201723337 Unknown - 0.002 - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+? 4 c.402C>A r.(?) p.(Tyr134*) Both (homozygous) - pathogenic g.18191649G>T g.18080839G>T - - IL12RB1_000038 protein change published as: p.Y133X PubMed: Luangwedchakarn 2009 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Luangwedchakarn 2009 Note: patient also has neurofibromatosis M no Thailand - - 0 - - 1 LOVD
-/. - c.467G>A r.(?) p.(Arg156His) Unknown - benign g.18188408C>T g.18077598C>T IL12RB1(NM_005535.1):c.467G>A (p.R156H) - IL12RB1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.467G>A r.(?) p.(Arg156His) Unknown - likely benign g.18188408C>T g.18077598C>T IL12RB1(NM_005535.1):c.467G>A (p.R156H) - IL12RB1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.467G>A r.(?) p.(Arg156His) Unknown - benign g.18188408C>T g.18077598C>T IL12RB1(NM_005535.1):c.467G>A (p.R156H) - IL12RB1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/- 5 c.467G>A r.(?) p.(Arg156His) Unknown - benign g.18188408C>T g.18077598C>T - - IL12RB1_000071 - PubMed: van de Vosse 2005 - rs11575926 Unknown - 0-20% - 0 - DNA SEQ - - Healthy/Control - http://www.ncbi.nlm.nih.gov/snp/ - - ? - (not applicable) - - 0 - - 1 LOVD
+/+? 5 c.467_483del r.410_549del p.(Val137Glyfs*8) Both (homozygous) - pathogenic g.18188393_18188409del g.18077583_18077599del - - IL12RB1_000030 - PubMed: Lichtenauer-Kaligis 2003 - - Germline - - - 0 - RNA RT-PCR - - IMD-30 - PubMed: Lichtenauer-Kaligis 2003 1 family 2 patients; 12594833-B2 affected brother, this patient also described in {PMID 16418797: Sanal 2006} as case 1 M yes Turkey - - 0 - - 2 Esther van de Vosse
+/+? 5 c.512A>C r.(?) p.(Gln171Pro) Unknown - pathogenic g.18188363T>G g.18077553T>G Q171P, mutation not specified - IL12RB1_000026 - PubMed: Fieschi 2003 - - Germline - - - 0 - DNA SSCA - - IMD-30 - PubMed: Fieschi 2003 - F no Slovakia (Slovak Republic) - - 0 - - 1 LOVD
+/+? 5 c.512A>C r.(?) p.(Gln171Pro) Unknown - pathogenic g.18188363T>G g.18077553T>G Q171P, mutation not specified - IL12RB1_000026 - PubMed: Fieschi 2003 - - Germline - - - 0 - DNA SSCA - - IMD-30 - PubMed: Fieschi 2003 - F no Slovakia (Slovak Republic) - - 0 - - 1 LOVD
+/+ 5 c.512A>C r.(?) p.(Gln171Pro) Both (homozygous) - pathogenic g.18188363T>G g.18077553T>G - - IL12RB1_000026 - PubMed: Alinejad Dizaj 2018 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Alinejad Dizaj 2018 - F yes Iran - - 0 - - 1 LOVD
+/+? 5 c.517C>T r.(?) p.(Arg173Trp) Both (homozygous) - pathogenic g.18188358G>A g.18077548G>A - - IL12RB1_000043 - PubMed: Boisson-Dupuis 2011 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: Boisson-Dupuis 2011 - M yes Iran - - 0 - - 1 LOVD
+/+? 5 c.517C>T r.(?) p.(Arg173Trp) Parent #2 - pathogenic g.18188358G>A g.18077548G>A R173W, mutation not specified - IL12RB1_000043 mutation not specified but most likely c.517C>T PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: de Beaucoudrey 2010 - F no Brazil - - 0 - - 1 LOVD
+/+ 5 c.517C>T r.(?) p.(Arg173Trp) Both (homozygous) - pathogenic g.18188358G>A g.18077548G>A R173W, mutation not specified - IL12RB1_000043 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: de Beaucoudrey 2010 - M yes Venezuela - - 0 - - 1 LOVD
+/+ 5 c.517C>T r.(?) p.(Arg173Trp) Both (homozygous) - pathogenic g.18188358G>A g.18077548G>A R173W, mutation not specified - IL12RB1_000043 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: de Beaucoudrey 2010 - F no Poland - - 0 - - 1 LOVD
+/+ 5 c.517C>T r.(?) p.(Arg173Trp) Both (homozygous) - pathogenic g.18188358G>A g.18077548G>A - - IL12RB1_000043 - PubMed: Alinejad Dizaj 2018 - - Germline - - - 0 - DNA SEQ - - IMD-30 - PubMed: Alinejad Dizaj 2018 - M yes Iran - - 0 - - 1 LOVD
+/+? 5 c.518G>C r.(?) p.(Arg173Pro) Both (homozygous) - pathogenic g.18188357C>G g.18077547C>G - - IL12RB1_000007 - PubMed: Aksu 2001 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: Aksu 2001 Note: one sister of the index pateint died at age 1 M yes Turkey - - 0 - - 1 LOVD
+/+? 5 c.518G>C r.(?) p.(Arg173Pro) Both (homozygous) - pathogenic g.18188357C>G g.18077547C>G R173P, mutation not specified - IL12RB1_000007 - PubMed: Fieschi 2003 - - Germline - - - 0 - DNA SSCA - - IMD-30 - PubMed: Fieschi 2003 - - yes Turkey - - 0 - - 1 LOVD
+/+ 5 c.518G>C r.(?) p.(Arg173Pro) Both (homozygous) - pathogenic g.18188357C>G g.18077547C>G - - IL12RB1_000007 - PubMed: Sanal 2006 - - Germline - - - 0 - RNA RT-PCR - - IMD-30 - PubMed: Sanal 2006 - M yes Turkey - - 0 - - 1 Esther van de Vosse
+/+? 5 c.518G>C r.(?) p.(Arg173Pro) Both (homozygous) - pathogenic g.18188357C>G g.18077547C>G R173P, mutation not specified - IL12RB1_000007 - PubMed: Kutukculer 2006 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: Kutukculer 2006 - F yes Turkey - - 0 - - 1 LOVD
+/+ 5 c.518G>C r.(?) p.(Arg173Pro) Both (homozygous) - pathogenic g.18188357C>G g.18077547C>G R173P, mutation not specified - IL12RB1_000007 - PubMed: de Beaucoudrey 2008 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: de Beaucoudrey 2008 - M - Turkey - - 0 - - 1 LOVD
+/+ 5 c.518G>C r.518G>C p.Arg173Pro Both (homozygous) - pathogenic g.18188357C>G g.18077547C>G - - IL12RB1_000007 - PubMed: van de Vosse 2010 - - Germline - - - 0 - RNA RT-PCR - - IMD-30 - PubMed: van de Vosse 2010 - F yes Netherlands Turkey - 0 - - 1 Esther van de Vosse
+/+? 5 c.523C>T r.(?) p.(Arg175Trp) Both (homozygous) - pathogenic g.18188352G>A g.18077542G>A 670C>T - IL12RB1_000033 - PubMed: Ozen 2006 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: Ozen 2006 - F yes Turkey - - 0 - - 1 LOVD
+/+? 5 c.523C>T r.(?) p.(Arg175Trp) Both (homozygous) - pathogenic g.18188352G>A g.18077542G>A R175W, mutation not specified - IL12RB1_000033 - PubMed: de Beaucoudrey 2010 - - Germline - - - 0 - ? ? - - IMD-30 - PubMed: de Beaucoudrey 2010 - M yes Turkey - - 0 - - 3 LOVD
+/+ 5 c.523C>T r.(?) p.(Arg175Trp) Both (homozygous) - pathogenic g.18188352G>A g.18077542G>A - - IL12RB1_000033 data not published yet personal communication Ozden Sanal - - Germline - - - 0 - DNA SEQ - - IMD-30 - personal communication Ozden Sanal parents are form neighbouring small villages, therefore possibly distantly related/consanguineous ; ; data not published yet - ? Turkey - - 0 - - 1 LOVD
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