Unique variants in the IL12B gene

Information The variants shown are described using the NM_002187.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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     
+?/? 1 1 c.-2766_2761delinsGC r.(=) p.(=) - likely pathogenic g.158741335_158760205delinsGC g.159314327_159333197delinsGC -6415CTCTAA/-6415GC - IL12B_000006 polymorphism = increased expression / association with increased expression PubMed: Shimokawa 2009 - - Germline - - - - - LOVD
+/+ 1 2 c.30G>A r.(?) p.(Trp10*) - pathogenic g.158753761C>T g.159326753C>T - - IL12B_000012 - PubMed: Parvaneh 2016 - - Germline - - - - - LOVD
+/+ 1 2 c.35_44del r.(?) p.(Ser12Phefs*12) - pathogenic g.158753754_158753763del g.159326746_159326755del 35del10 - IL12B_000011 - PubMed: Prando 2013 - - Germline - - - - - LOVD
-?/. 1 - c.138G>A r.(?) p.(Val46=) - likely benign g.158750288C>T g.159323280C>T IL12B(NM_002187.2):c.138G>A (p.V46=) - IL12B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.145A>G r.(?) p.(Thr49Ala) - VUS g.158750281T>C - IL12B(NM_002187.2):c.145A>G (p.T49A) - IL12B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 3 c.179G>A r.(?) p.(Trp60*) - pathogenic g.158750247C>T g.159323239C>T - - IL12B_000009 - PubMed: Prando 2013 - - Germline - - - - - LOVD
+/+ 8 3 c.298_305del r.(?), r.298_305del p.(Ser100Alafs*13) - pathogenic g.158750122_158750129del g.159323114_159323121del 297del8 - IL12B_000002 deletion, frameshift PubMed: Ben-Mustapha 2013, PubMed: de Beaucoudrey 2008, PubMed: Elloumi-Zghal 2002, 1 more item - - Germline - - - - - LOVD
+/+, +/. 15 3 c.320dup r.(?) p.(Glu108Glyfs*8) ACMG pathogenic g.158750110dup g.159323102dup 315insA, 315_316insA - IL12B_000003 duplication, frameshift PubMed: Picard 2002, OMIM:var0002, PubMed: Prando 2013, PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+/+ 4 4i_6i c.482+83_856-855del r.? p.(Ser162Lysfs*46) - pathogenic g.158744682_158749322del g.159317674_159322314del 4.6 kb deletion, 482+82_856-854del - IL12B_000001 deletion, frameshift PubMed: Picard 2002, PubMed: Prando 2013, PubMed: Pulickal 2008 , OMIM:var0001 - - Germline - - - - - LOVD
+/+ 4 5 c.527_528del r.(?) p.(Ser176Cysfs*12) - pathogenic g.158747487_158747488del g.159320479_159320480del 526-528delCT, 526_528delCT - IL12B_000004 deletion, frameshift PubMed: Mansouri 2005, PubMed: Prando 2013, PubMed: Sharifi Mood 2004 - - Germline, Unknown - - - - - LOVD
-?/. 1 - c.628G>A r.(?) p.(Val210Ile) - likely benign g.158747383C>T - IL12B(NM_002187.2):c.628G>A (p.V210I) - IL12B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.660T>A r.(?) p.(Tyr220Ter) - likely pathogenic g.158747351A>T g.159320343A>T IL12B(NM_002187.2):c.660T>A (p.Y220*) - IL12B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., ?/. 12 - c.677G>A r.(?) p.(Ser226Asn) - benign, VUS g.158747334C>T g.159320326C>T IL12B(NM_002187.2):c.677G>A (p.S226N) - IL12B_000015 VKGL data sharing initiative Nederland Liu submitted, 2021 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Liu Wenbing
+/+ 1 5i c.697+2T>C r.spl? p.(splicing) - pathogenic g.158747312A>G g.159320304A>G - - IL12B_000010 according to report excision of exon 6 PubMed: Prando 2013 - - Germline - - - - - LOVD
+/+? 1 5i c.697+5G>A r.spl? p.(splicing) - pathogenic g.158747309C>T g.159320301C>T - - IL12B_000007 according to the report the mutation leads to excision of exon 6 PubMed: Prando 2013 - - Germline - - - - - LOVD
-?/. 1 - c.822C>T r.(?) p.(Cys274=) - likely benign g.158745777G>A g.159318769G>A IL12B(NM_002187.2):c.822C>T (p.C274=) - IL12B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 2 - c.892G>T r.(?) p.(Val298Phe) - benign, likely benign g.158743788C>A g.159316780C>A IL12B(NM_002187.2):c.892G>T (p.V298F) - IL12B_000014 12 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs3213119 CLASSIFICATION record, Germline - 12/2795 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
+/+? 1 7 c.908dup r.(?) p.(Asn303Lysfs*5) - pathogenic g.158743776dup g.159316768dup 909insA - IL12B_000008 - PubMed: Prando 2013 - - Germline - - - - - LOVD
?/. 1 - c.973G>A r.(?) p.(Val325Met) - VUS g.158743707C>T g.159316699C>T IL12B(NM_002187.2):c.973G>A (p.V325M) - IL12B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
./. 2 - c.*159A>C r.(=) p.(=) - VUS g.158742950T>G g.159315942T>G - - IL12B_000013 for details see the Uveogene database, for details see the Uveogene database PubMed: Balistreri 2013, PubMed: Yang 2014 - rs3212227 Germline - 26/70 cases, 786/1612 cases - - - Peizeng Yang
+?/?, ?/? 7 8 c.*169A>C r.(?) p.(=) - likely pathogenic, VUS g.158742940T>G - 1188A/C - IL12B_000005 5 more items PubMed: Tsunemi 2002 - rs3212227 Germline, Unknown - 27/100, 29/143, 45/100, 55/164, 56/143, 84/164 TaqI+ - - LOVD
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