ISG15 — 152 ClinVar variants
All ClinVar germline ISG15 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
2 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 7 Conflicting · 4 Benign · 9 Benign/Likely benign · 56 Likely benign · 72 Uncertain significance
Full ISG15 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ISG15 p.Ala53Val
Conflicting
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Arg99Gln
Conflicting
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Gly141Ser
Conflicting
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Leu28Gln
Conflicting
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Ser24Leu
Conflicting
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Predictors lean, ClinVar uncertain 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ISG15 p.Ala11Val
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Arg164Trp
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Arg44His
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Arg92His
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Asp120Asn
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Gly158Ser
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Gly51Ser
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Gly68Ser
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.His48Tyr
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Ile32Asn
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Met150Val
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Phe149Ser
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Pro81Leu
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Ser22Phe
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Thr6Met
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Thr70Met
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- ISG15 p.Ala105Asp Uncertain significance Single submitter
-
ISG15 p.Ala105Thr
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Ala11Thr
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Ala40Thr
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- ISG15 p.Ala46Asp Uncertain significance Single submitter
-
ISG15 p.Arg153His
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Arg164Gln
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Asp119Asn
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Gln134Lys
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Gln34Glu
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- ISG15 p.Gln42Arg Uncertain significance Single submitter
-
ISG15 p.Glu127Lys
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Glu14Val
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Glu97Lys
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Gly158Arg
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Gly163Arg
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Leu107Val
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Leu85Pro
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Met23Val
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Pro130Thr
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Pro136Leu
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Pro59Ser
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Pro67Ser
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- ISG15 p.Ser165Asn Uncertain significance Single submitter
- ISG15 p.Ser165Thr Uncertain significance Single submitter
- ISG15 p.Ser83Arg Uncertain significance Single submitter
-
ISG15 p.Thr101Ala
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- ISG15 p.Thr101Lys Uncertain significance Single submitter
-
ISG15 p.Thr101Met
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Thr6Lys
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- ISG15 p.Tyr96Phe Uncertain significance Single submitter
-
ISG15 p.Val104Met
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Val25Leu
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Val86Met
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Predictors split 9
The independent predictors disagree with each other — read with care.
-
ISG15 p.Pro49Leu
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Val148Met
Uncertain significance
Multiple submitters
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Gly128Glu
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Gly138Arg
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- ISG15 p.Gly141Val Uncertain significance Single submitter
-
ISG15 p.Gly51Cys
Conflicting
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Pro144Leu
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Trp123Cys
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
-
ISG15 p.Val38Met
Uncertain significance
Single submitter
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
All ISG15 variants
Pathogenic 2
- p.Gln55Ter No assertion criteria Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Leu114fs No assertion criteria Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Pathogenic/Likely pathogenic 1
- c.4-1G>A Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Likely pathogenic 1
- p.Glu127Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Conflicting classifications of pathogenicity 7
- p.Ala53Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Arg99Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gly141Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gly51Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Leu28Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Ser24= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Ser24Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
Benign 4
- c.-108_-107insA Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.-33T>C Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.-84C>G Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.4-129G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Benign/Likely benign 9
- p.Ala11= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Asp79= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Gly157= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Leu73= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Ser21Asn Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Ser26= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Ser83Asn Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Thr159= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Val98= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Likely benign 56
- p.Ala30= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Asp119= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Gln134= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Gly162= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Leu135= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Leu65= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Phe126= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Ser50= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Tyr96= Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.3+16C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.3+18G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.4-11G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.4-4G>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.4-5T>G Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.4-6C>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.4-8G>A Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.4-9C>T Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.-21CACAGCC[2] Single submitter
- p.Ala53= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Arg164Pro Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Arg57= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Asn13= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Asn151= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Cys78= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Gln102= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Gly113= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Gly113Arg Single submitter
- p.Gly12= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Gly141= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Gly2= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.His39= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Ile36= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Leu107= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Leu124= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Leu137= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Leu142= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Leu28= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Leu45= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Leu82= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Lys143= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Pro136= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Pro49= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Pro59= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Pro67= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Ser112= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Ser69= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Ter166= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Thr101= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Thr103= Single submitter
- p.Thr147= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Thr6= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Thr70= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Tyr140= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Val75= Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- c.-21CACAGCC[1] No assertion criteria ISG15-related disorder
- c.*4C>A No assertion criteria ISG15-related disorder
Uncertain significance 72
- p.Ala11Val Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Arg155fs Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Arg164Trp Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Arg44His Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Arg92His Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Asp120Asn Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gly158Ser Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gly51Ser Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gly68Ser Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gly91Ser Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.His48Tyr Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Ile32Asn Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Met150Val Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Phe149Ser Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Pro49Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Pro81Leu Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Ser22Phe Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Thr6Met Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Thr70Met Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Val148Met Multiple submitters Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- c.3+5G>C Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Ala105Asp Single submitter ⚠
- p.Ala105Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Ala11Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Ala40Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Ala46Asp Single submitter ⚠
- p.Arg153His Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Arg155Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Arg164Gln Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Arg99Trp Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Asp119Asn Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gln118Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Gln134Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gln134Ter Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Gln34Glu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gln42Arg Single submitter ⚠
- p.Glu127Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Glu139fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Glu14Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Glu97Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gly116Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Gly128Glu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gly138Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gly141Val Single submitter ⚠
- p.Gly158Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Gly163Arg Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Leu107Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Leu85Pro Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Met23Val Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Phe149fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Pro130Thr Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Pro136Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Pro144Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Pro161_Gly162insValPro Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Pro59Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Pro67Ser Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Ser165Asn Single submitter ⚠
- p.Ser165Thr Single submitter ⚠
- p.Ser83_Leu85del Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Ser83Arg Single submitter ⚠
- p.Thr101Ala Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Thr101Lys Single submitter ⚠
- p.Thr101Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Thr147Ile Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Thr6Lys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Trp123Cys Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Tyr96fs Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
- p.Tyr96Phe Single submitter ⚠
- p.Val104Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Val25Leu Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Val38Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠
- p.Val86Met Single submitter Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ⚠