IL12RB1 — 649 ClinVar variants

All ClinVar germline IL12RB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 244 flagged for review →

57 Pathogenic · 3 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 47 Conflicting · 25 Benign · 15 Benign/Likely benign · 224 Likely benign · 261 Uncertain significance

Full IL12RB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 244

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

IL12RB1 p.Arg173Trp Pathogenic/Likely pathogenic Multiple submitters
IL12RB1-related disorders
IL12RB1 p.Arg212Gln Pathogenic Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg213Trp Pathogenic Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Predictors agree, ClinVar conflicts 15

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

IL12RB1 p.Ala275Val Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ala574Thr Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg173Pro Conflicting Single submitter
Inherited Immunodeficiency Diseases
IL12RB1 p.Arg361Gln Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Glu140Asp Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Glu201Ala Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Glu28Gly Conflicting Single submitter
Inborn genetic diseases
IL12RB1 p.Glu425Lys Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Leu380Ile Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro228Ser Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro391Leu Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Thr278Ala Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Tyr357His Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Val107Ala Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Val170Glu Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Predictors lean, ClinVar uncertain 183

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 183

IL12RB1 p.Ala422Val Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ala44Val Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ala551Thr Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg173Gln Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg213Gln Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Arg403Gln Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg484His Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg48Lys Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg511Gln Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg536His Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg54Gln Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg575Gln Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg85His Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Asp101Asn Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Asp163Ala Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Asp251Asn Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Cys658Arg Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Cys658Tyr Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gln132Arg Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gln218Pro Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gln238Glu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Glu61Lys Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly21Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Gly406Glu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly554Glu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly626Asp Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Gly84Arg Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Ile418Val Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Ile590Phe Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Leu289Val Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro10His Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro232Leu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro34Leu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro37Leu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro388Leu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro388Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Pro393Leu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro3Leu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro449Leu Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Pro580Leu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro638Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Ser43Leu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ser453Leu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ser472Asn Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Thr278Met Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Thr366Met Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Thr517Met Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Val148Met Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Val245Leu Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Val477Ile Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Val541Leu Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Ala152Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ala362Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ala407Gly Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ala443Thr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ala512Thr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ala589Thr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ala90Thr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ala94Thr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg120Thr Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Arg156Cys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg19Gly Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg255Gln Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg361Gly Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg48Gly Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg511Trp Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg51Gly Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg536Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg572Gly Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Arg575Trp Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg59His Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg78Gln Uncertain significance Single submitter
IL12RB1 p.Arg78Trp Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg85Cys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Asn203Tyr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Asn352Lys Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Asn456Thr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Asp145His Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Asp163Glu Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Asp163Gly Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Asp337Asn Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Asp465His Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Asp487Asn Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Asp606Gly Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Gln102Lys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gln132His Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Gln272Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gln410Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gln410Pro Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gln519Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Glu124Gln Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Glu124Lys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Glu260Lys Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Glu266Gln Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Glu341Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Glu609Lys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Glu615Lys Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Gly167Ala Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Gly167Asp Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly277Asp Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly304Trp Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Gly378Trp Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly379Arg Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Gly379Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly406Trp Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly406Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly447Ala Uncertain significance Single submitter
IL12RB1 p.Gly476Asp Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly655Ala Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Gly68Cys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.His333Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.His438Tyr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.His450Tyr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.His451Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.His457Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ile347Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ile418Thr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ile539Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ile590Met Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Leu151Met Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Leu183Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Leu258Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Leu267Pro Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Leu470Gln Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Leu507Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Leu77Pro Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Lys150Asn Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Lys182Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Lys659Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Met202Arg Uncertain significance Single submitter
IL12RB1 p.Met365Ile Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Met408Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Met662Lys Uncertain significance Single submitter
IL12RB1 p.Phe15Val Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro127Leu Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Pro199Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro237Arg Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Pro237Gln Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro237Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro292Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro37Thr Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro3Gln Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro475Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro584Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ser178Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ser244Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ser320Pro Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ser321Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ser41Pro Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Ser421Phe Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Predictors split 43

The independent predictors disagree with each other — read with care.

IL12RB1 p.Ala91Thr Benign Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg484Cys Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Asn322Lys Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Glu495Gly Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Gly153Glu Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Gly187Arg Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Pro47Ser Benign Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro579Leu Uncertain significance Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Thr95Ile Uncertain significance Multiple submitters
Inborn genetic diseases
IL12RB1 p.Arg175Gln Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Arg254Lys Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Arg536Cys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Asp392Tyr Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Cys271Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Cys293Phe Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Cys368Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Cys474Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gln519Lys Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Gly350Arg Conflicting Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly353Arg Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly353Glu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Gly46Asp Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Gly92Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ile539Asn Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Leu507Phe Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Phe172Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Phe243Leu Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Phe592Leu Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Phe89Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro142Ser Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Pro307Ser Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Pro307Thr Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Pro69Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Ser290Phe Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Thr436Pro Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Thr503Ile Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Thr506Pro Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Trp114Ser Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Tyr139Cys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Tyr53Cys Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Val498Met Uncertain significance Single submitter
Inborn genetic diseases
IL12RB1 p.Val520Leu Uncertain significance Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
IL12RB1 p.Cys198Arg Pathogenic No assertion criteria
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

All IL12RB1 variants

Pathogenic 57

c.1791+2T>G Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.64+2T>G Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala589fs Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg211Pro Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg283Ter Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg486Ter Multiple submitters IL12RB1-related disorders
p.Arg521Ter Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln32Ter Multiple submitters IL12RB1-related disorders
p.Lys305Ter Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser321Ter Multiple submitters Inherited Immunodeficiency Diseases
p.Tyr88Ter Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1327+1del Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1791+1G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.409+1G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.580+1G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.64+1G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg212Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg213Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg403Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Asp145fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Cys186_Pro188delinsTer Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Cys413fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Cys474Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln102Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln154fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln165Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln264Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln285Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln499Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln533fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln542Lys Single submitter IL12RB1-related disorders
p.Gln614Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln65Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Glu234fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Glu627Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Glu633Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly187Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly84fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro424fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser463fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser508fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser57fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Trp332Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Trp401Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Trp466Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Trp531Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Tyr134fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Tyr314Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val316fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val564fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1021+1G>C No assertion criteria Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.700+362_1619-944del No assertion criteria Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Cys198Arg No assertion criteria Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gln376Ter No assertion criteria Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln542Ter No assertion criteria IL12RB1-related disorder
p.Glu124fs No assertion criteria Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Thr355del No assertion criteria Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Pathogenic/Likely pathogenic 3

p.Arg173Trp Multiple submitters IL12RB1-related disorders ⚠
p.Leu200fs Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Trp7Ter Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Likely pathogenic 17

c.1021+1G>A Single submitter
c.1021+2T>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1022-1G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1189+2T>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.124+1G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1618+1G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1791+1G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1792-1G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.-10C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.-17_-16dup Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg175Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Asn603fs Single submitter IL12RB1-related disorders
p.Cys186fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Cys186Ser Single submitter
p.Gln132Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Glu639Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Lys412Ter Single submitter IL12RB1-related disorders

Conflicting classifications of pathogenicity 47

c.1190-13C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.124+4C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1327+9C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1791+9G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.581-17G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.701-6T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.783+5C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala103= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala275Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ala443= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala574Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ala91= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg173Pro Single submitter Inherited Immunodeficiency Diseases ⚠
p.Arg361Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Asp487= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Asp606= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Cys87= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Glu140Asp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Glu201Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Glu28Gly Single submitter Inborn genetic diseases ⚠
p.Glu425Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly187= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly21= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly350Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly626= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.His423= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu380Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Phe550= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro228Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro233= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro391= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro391Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro393= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro475= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro579= Single submitter Inborn genetic diseases
p.Pro582= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro638= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser310= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser588= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser622= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Thr130= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Thr278Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Tyr357His Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Tyr399= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val107Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val170Glu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val245= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Benign 25

c.-111A>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.*34C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala91Thr Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg283Gln Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg528= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Cys383= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro228= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro34= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro47Ser Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Tyr414= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val129= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1021+656C>T Single submitter
c.1022-12dup Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1189+91C>T Single submitter
c.125-117C>T Single submitter
c.1791+46T>C Single submitter
c.1792-67G>A Single submitter
c.1983+24C>T Single submitter
c.1983+47G>T Single submitter
c.239+11del Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.581-18C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.581-74A>G Single submitter
c.64+10del Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Lys596Glu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.12-6T>C No assertion criteria IL12RB1-related disorder

Benign/Likely benign 15

c.1021+809G>A Multiple submitters
c.124+14C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.783+10C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.-2C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala525Thr Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala573= Multiple submitters immunodeficiency 27A
p.Arg156His Multiple submitters immunodeficiency 27A
p.Asn352= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln214Arg Multiple submitters immunodeficiency 27A
p.Gly378Arg Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly594Glu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Met365Thr Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser43= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Thr366= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Tyr60= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency

Likely benign 224

c.124+16T>C Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1483+4C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1618+11G>C Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1619-15G>A Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1984-13T>C Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.240-18C>A Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.784-20G>A Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala312= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala387= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala525= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala551= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg361= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg486Gln Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Asp33= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Asp487Glu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Asp654Asn Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Cys230= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln165= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln376= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Glu627Lys Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly184= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly476= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly563= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.His339Gln Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu632= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Phe89= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro199= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro388= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro449= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser100= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser472= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser74Arg Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val204= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val605Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1021+14G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1021+16G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1021+18G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1021+767T>G Single submitter
c.1021+770T>C Single submitter
c.1021+919A>C Single submitter
c.1022-11del Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1022-9_1022-8del Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1189+14A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1189+15T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1189+20T>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1189+20T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1189+7G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1189+8C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1190-13C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1190-7_1190-6del Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.125-4C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1327+13_1327+14del Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1327+18G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1328-12T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1328-13G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1328-15T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1483+15G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1484-10C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1484-14C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1484-19G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1484-20G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1618+11G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1618+11G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1618+13G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1618+16A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1619-15G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1619-16C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1619-17A>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1619-6C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1715+9C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1716-13C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1716-17T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1716-19G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1716-8C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1716-8C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1791+5G>C Single submitter
c.1791+7A>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1791+8T>C Single submitter
c.1792-12C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1792-14C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1792-14C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1792-18C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1792-19C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1792-5T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1983+10C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1983+15T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1983+16G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1983+17G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1984-12T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1984-15T>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1984-15TGT[4] Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.239+10C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.239+11C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.239+14T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.239+8C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.240-10C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.240-12T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.240-17C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.240-9C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.409+12G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.409+18C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.409+20C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.409+9C>T Single submitter
c.410-14A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.410-15T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.549+16A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.550-15A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.550-8T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.580+14T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.580+7ATA[2] Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.581-12G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.581-17G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.581-4C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.581-8C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.64+15C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.64+17T>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.64+9C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.700+11T>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.700+7T>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.701-13G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.701-8G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.783+13T>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.783+15A>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.-78C>T Single submitter
p.Ala152= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala275= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala297= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala336= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala422= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala71= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala90= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg120= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg19= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg283= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Asn235= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Asp377= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Cys186= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Cys368= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Cys578= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln323= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gln499Lys Single submitter Inborn genetic diseases
p.Glu260= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Glu411= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Glu609= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Glu636= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly104= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly216= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly304= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly395= Single submitter
p.Gly406= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly447= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly509= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly72= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly84= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.His287= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.His339= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.His451= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.His496= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.His75= Single submitter
p.Ile418= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu108= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu133= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu14= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu17= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu256= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu303= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu328= Single submitter
p.Leu380= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu427= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu434= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu470= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu560= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu561= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu581= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu617= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu637= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu646= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu77= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Lys412= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Lys634= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Met408Leu Single submitter Inborn genetic diseases
p.Phe243= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Phe99= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro162= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro180= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro292= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro3= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro424= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro497= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro580= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro631Leu Single submitter Inborn genetic diseases
p.Pro69= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser106= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser220= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser244= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser27= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser290= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser321= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser348= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser45= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser453= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser552= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser63= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser83= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser93= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Thr331= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Thr338= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Thr432Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Thr436= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Thr448= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Thr517= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Tyr134= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Tyr481= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val115= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val148= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val316= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val349= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val433= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val462Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val493= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val520= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1021+786G>C No assertion criteria IL12RB1-related disorder
c.-67C>T No assertion criteria IL12RB1-related disorder
p.Val541= No assertion criteria IL12RB1-related disorder

Uncertain significance 261

c.1716-9_1716-8insGGTCCCCTTTCATCCCCA Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.700+3A>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.783+6G>C Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.-51C>T Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala422Val Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ala44Val Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ala551Thr Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg173Gln Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg213Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg403Gln Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg484Cys Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg484His Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg48Lys Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg511Gln Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg536His Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg54Gln Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg54Trp Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Arg575Gln Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg85His Multiple submitters Inborn genetic diseases ⚠
p.Asn322Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp101Asn Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Asp163Ala Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Asp251Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys658Arg Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Cys658Tyr Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gln132Arg Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gln218Pro Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gln238Glu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Glu495Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu61Lys Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly153Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly187Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly21Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly406Glu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly554Glu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly626Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly84Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile418Val Multiple submitters Inborn genetic diseases ⚠
p.Ile539= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ile590Phe Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Leu289Val Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro10His Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro232Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro34Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro37Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro388Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro388Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro393Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro3Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro449Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro579Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro580Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro638Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser43Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ser453Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ser472Asn Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Thr278Met Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Thr366Met Multiple submitters Inborn genetic diseases ⚠
p.Thr517Met Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Thr95Ile Multiple submitters Inborn genetic diseases ⚠
p.Val148Met Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val245Leu Multiple submitters Inborn genetic diseases ⚠
p.Val477Ile Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val483Phe Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val541Leu Multiple submitters Inborn genetic diseases ⚠
c.1021+2dup Single submitter IL12RB1-related disorder
c.1021+3G>A Single submitter
c.1189+3A>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.124+5G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1483+5G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1483+5G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1619-5C>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1716-6C>T Single submitter
c.1791+3A>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1983+4C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.1984-1G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.65-3C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.-77G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
c.*30C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala152Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ala297_Thr298insLysAla Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala344fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ala362Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ala407Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ala443Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ala512Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ala522Thr Single submitter Inborn genetic diseases
p.Ala589Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ala90Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ala94Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg120Thr Single submitter Inborn genetic diseases ⚠
p.Arg156Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg175Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg19Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg254Lys Single submitter Inborn genetic diseases ⚠
p.Arg255Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg361Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg48Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg511Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg51Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg536Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg536Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg572Gly Single submitter Inborn genetic diseases ⚠
p.Arg575Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg59His Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg78Gln Single submitter ⚠
p.Arg78Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Arg85Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Asn203Tyr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Asn352Lys Single submitter Inborn genetic diseases ⚠
p.Asn442= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Asn456Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Asp145His Single submitter Inborn genetic diseases ⚠
p.Asp163Glu Single submitter Inborn genetic diseases ⚠
p.Asp163Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Asp337Asn Single submitter Inborn genetic diseases ⚠
p.Asp392Tyr Single submitter Inborn genetic diseases ⚠
p.Asp465His Single submitter Inborn genetic diseases ⚠
p.Asp487Asn Single submitter Inborn genetic diseases ⚠
p.Asp606Gly Single submitter Inborn genetic diseases ⚠
p.Cys271Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Cys293Phe Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Cys368Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Cys474Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gln102Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gln132His Single submitter Inborn genetic diseases ⚠
p.Gln272Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gln410Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gln410Pro Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gln519Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gln519Lys Single submitter Inborn genetic diseases ⚠
p.Glu124Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Glu124Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Glu260Lys Single submitter Inborn genetic diseases ⚠
p.Glu266Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Glu341Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Glu609Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Glu610Ter Single submitter
p.Glu615Lys Single submitter Inborn genetic diseases ⚠
p.Gly153Trp Single submitter Inborn genetic diseases
p.Gly167Ala Single submitter Inborn genetic diseases ⚠
p.Gly167Asp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly277Asp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly304Trp Single submitter Inborn genetic diseases ⚠
p.Gly353Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly353Glu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly378Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly379Arg Single submitter Inborn genetic diseases ⚠
p.Gly379Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly406Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly406Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly447Ala Single submitter ⚠
p.Gly46Asp Single submitter Inborn genetic diseases ⚠
p.Gly476Asp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly655Ala Single submitter Inborn genetic diseases ⚠
p.Gly68Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Gly68Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Gly92Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.His333Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.His438Tyr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.His450Tyr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.His451Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.His457Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ile347Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ile418Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ile539Asn Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ile539Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ile590Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Leu151Met Single submitter Inborn genetic diseases ⚠
p.Leu183Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Leu258Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Leu267Pro Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Leu284Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu470Gln Single submitter Inborn genetic diseases ⚠
p.Leu507Phe Single submitter Inborn genetic diseases ⚠
p.Leu507Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Leu547= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Leu77Pro Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Lys150Asn Single submitter Inborn genetic diseases ⚠
p.Lys182Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Lys659Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Met1Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Met1Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Met202Arg Single submitter ⚠
p.Met365_Cys368del Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Met365Ile Single submitter Inborn genetic diseases ⚠
p.Met408Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Met662Lys Single submitter ⚠
p.Phe15Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Phe172Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Phe243Leu Single submitter Inborn genetic diseases ⚠
p.Phe592Leu Single submitter Inborn genetic diseases ⚠
p.Phe89Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro127Leu Single submitter Inborn genetic diseases ⚠
p.Pro142Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro199Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro237Arg Single submitter Inborn genetic diseases ⚠
p.Pro237Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro237Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro292Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro307Ser Single submitter Inborn genetic diseases ⚠
p.Pro307Thr Single submitter Inborn genetic diseases ⚠
p.Pro37= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Pro37Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro3Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro475Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro584Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Pro69Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ser178Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ser244Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ser290Phe Single submitter Inborn genetic diseases ⚠
p.Ser310Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Ser320Pro Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ser321Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ser41Pro Single submitter Inborn genetic diseases ⚠
p.Ser421Phe Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ser45Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ser463Phe Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ser490Gly Single submitter Inborn genetic diseases ⚠
p.Ser538Asn Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ser612Phe Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Ter663Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Thr382Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Thr417Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Thr436Pro Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Thr503Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Thr506Pro Single submitter Inborn genetic diseases ⚠
p.Thr583Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Thr70Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Trp114Ser Single submitter Inborn genetic diseases ⚠
p.Trp222Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Trp401Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Trp531fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Trp623Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Trp64Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Trp7Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Tyr139Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Tyr308Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Tyr367Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Tyr415His Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Tyr437His Single submitter Inborn genetic diseases ⚠
p.Tyr481Cys Single submitter Inborn genetic diseases ⚠
p.Tyr53Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val105Leu Single submitter Inborn genetic diseases ⚠
p.Val245Ala Single submitter Inborn genetic diseases ⚠
p.Val280Ile Single submitter Inborn genetic diseases ⚠
p.Val316Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val452Leu Single submitter Inborn genetic diseases ⚠
p.Val454Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val464Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
p.Val498Met Single submitter Inborn genetic diseases ⚠
p.Val518Ala Single submitter Inborn genetic diseases ⚠
p.Val520Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val530Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val541Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val543Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val562Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val564Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val564Gly Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val619Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency ⚠
p.Val8Ala Single submitter Inborn genetic diseases ⚠