Sugi Variant

Sugi Variant/SP110

SP110 — 565 ClinVar variants

All ClinVar germline SP110 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 237 flagged for review →

21 Pathogenic · 9 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 26 Conflicting · 13 Benign · 22 Benign/Likely benign · 196 Likely benign · 265 Uncertain significance

Full SP110 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 237

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 13

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

Predictors lean, ClinVar uncertain 201

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 201

Predictors split 23

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

All SP110 variants

Pathogenic 21

  • p.Ser215fs Multiple submitters SP110-related disorder
  • p.Arg155Ter Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg372Ter Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asp234fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asp237fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gln146Ter Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gln545fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.His28fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Leu645fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Lys453_Ser454insTer Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Pro368fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Pro499fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Pro564fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser296fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser356Ter Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Tyr100fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Val315fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Val466fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Val591_Ser592insTer Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gln14fs No assertion criteria hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ile27Leu No assertion criteria hepatic veno-occlusive disease-immunodeficiency syndrome

Pathogenic/Likely pathogenic 9

  • p.Arg344Ter Multiple submitters SP110-related disorder
  • p.Arg373fs Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg421Ter Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg448Ter Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg554Ter Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg631Ter Multiple submitters Mycobacterium tuberculosis, susceptibility to
  • p.Asp455Ter Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gln231fs Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Tyr476_Lys477delinsTer Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome

Likely pathogenic 13

  • c.1888-2A>G Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1130-1G>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1279+1G>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1349-2A>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1447+1G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1447+1G>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1448-2A>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1706+2T>G Single submitter Mycobacterium tuberculosis, susceptibility to
  • c.1816-1G>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1816-2A>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gln231Ter Single submitter SP110-related disorder
  • p.His589fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Lys293Ter Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome

Conflicting classifications of pathogenicity 26

  • c.1591-9C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1706+4A>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.583+8A>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.584-10C>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.829+15T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.898+14A>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala153= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala511Thr Single submitter Inborn genetic diseases ⚠
  • p.Arg344Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg421Gln Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg448Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg490Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg531Trp Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg662Ter Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asn705Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp237= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asp400= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gly550Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly708Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.His589Leu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys439Glu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Pro144His Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser462Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser534Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser79= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Trp112Ter Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome

Benign 13

  • c.1130-11A>G Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1815+14A>G Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.668-21A>C Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg669His Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Cys577= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gly126Ser Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Leu181Arg Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.583+116T>C Single submitter
  • c.830-20del Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Leu425= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser173= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr117= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Trp112= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome

Benign/Likely benign 22

  • c.1706+20G>A Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1815+20C>T Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.584-9C>T Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala128Val Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala206Val Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala471= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Cys488= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Cys549= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Glu207Lys Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gly299Arg Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gly483Arg Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gly550= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Leu425Ser Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Met249Val Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Met523Thr Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Met579Ile Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Pro174= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr326= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr330Met Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr367Met Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr652= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Trp112Arg Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome

Likely benign 196

  • c.1129+16T>C Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1590+13C>T Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1591-18C>T Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1707-14G>T Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.2028+8G>A Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.317-9C>T Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala658= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala7= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg344= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Cys327= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gly707= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Lys289= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Phe442Leu Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Pro151Ser Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser62= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr367= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Tyr48= Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Val64= Multiple submitters
  • p.Ile169= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala153= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1048+16G>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1048+17A>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1048+9G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1049-16A>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1049-8T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1129+18C>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1129+7C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1129+9T>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1130-12T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1130-16A>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1130-8T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1279+11del Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1279+3A>G Single submitter
  • c.1348+20C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1348+9G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1349-18G>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1349-19T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1349-4T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1447+13G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1448-13C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1448-17T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1448-8T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.147+9T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.148-17T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.148-5T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.148-9T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1590+10T>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1590+14G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1590+16G>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1590+20G>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1590+7T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1590+853A>G Single submitter
  • c.1591-10G>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1591-4G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1706+11T>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1706+17C>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1706+19C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1706+20G>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1707-11C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1707-16G>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1815+11T>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1815+14A>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1815+17C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1815+20C>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1888-17G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1888-22CT[3] Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1888-4del Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.2029-15T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.2029-18T>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.2029-7_2029-6del Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.316+19T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.316+8G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.317-15C>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.317-16C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.317-6T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.583+15C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.583+16C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.583+19C>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.583+9C>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.584-18T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.667+14G>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.667+14G>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.667+20A>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.668-16_668-15del Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.668-17T>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.668-17T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.751+12_751+16del Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.751+16T>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.751+18A>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.751+19A>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.751+19A>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.751+20C>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.751+9G>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.752-19C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.752-4T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.829+10G>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.829+14T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.830-12C>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.898+10G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.898+17A>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.898+19A>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.899-4C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala138= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala206= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala338= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala379= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala511= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala567= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala704= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg372= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg411= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg424= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg46= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg63= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg74= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asn260= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asn510= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asn513= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asn77= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asp116= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asp679Asn Single submitter
  • p.Asp697= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asp706= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Cys152= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Cys537= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Cys540= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Cys548= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gln113= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gln14= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gln309= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gln390= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gln598= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gln87= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Glu267= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Glu332= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Glu50= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Glu527Gln Single submitter Inborn genetic diseases
  • p.Glu653= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gly634= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gly700= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.His306= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.His447= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.His561= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.His590= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.His702= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ile119= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ile169= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ile23= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ile352= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ile42= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ile88= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Leu139= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Leu228= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Leu571= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Leu687= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Leu699= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Leu699Phe Single submitter Inborn genetic diseases
  • p.Lys418= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Lys463= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Lys481= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Phe85= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Pro136= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Pro140= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Pro141= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Pro144= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Pro147= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Pro265= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Pro465= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser166= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser202= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser346= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser364= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser437= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser534= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser573= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser583= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr135= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr193= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr218= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr218Ala Single submitter Inborn genetic diseases
  • p.Thr220= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr301Ala Single submitter Inborn genetic diseases
  • p.Thr330= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr495= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr551= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr594= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr656= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr98= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Tyr25= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Tyr476= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Tyr633= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Tyr655= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Val106= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Val504= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Val591= Single submitter
  • p.Val392= No assertion criteria SP110-related disorder

Uncertain significance 265

  • c.1591-6T>G Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.583+3G>A Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala138Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala224Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala471Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg440Lys Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg490Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg519His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg662Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg91Ser Multiple submitters Inborn genetic diseases
  • p.Asp393Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Cys283Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Cys283Ser Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Cys342_Glu349dup Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gln586Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu129Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu240Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu527Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Glu538Lys Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Glu635Asp Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly681Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly707Asp Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly708Ser Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.His447Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His447Asp Multiple submitters Inborn genetic diseases ⚠
  • p.His460Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ile352Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile434Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ile518Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Leu216Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu643Trp Multiple submitters Inborn genetic diseases
  • p.Leu685Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Lys281Arg Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys310Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Lys313Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys429Arg Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys451Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys647Glu Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Met409Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met409Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Met409Val Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Met570Val Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Phe709Leu Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Pro124Ser Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Pro713Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser114Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser173Leu Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Thr196Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr467Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr110His Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr476Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Val268Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val318Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val466Met Multiple submitters hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • c.1129+4A>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1130-10T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1280-10C>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1447+5G>A Single submitter
  • c.1448-6T>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.148-3T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1707-9A>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1815+4A>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.1815+5_1815+6del Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.2028+1G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.316+6G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.583+6A>G Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Glu251Gln Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.829+10G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.898+1G>A Single submitter
  • c.899-3C>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.-85T>C Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.*158C>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.*203A>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.*204A>T Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • c.*206del Single submitter
  • c.*82G>A Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala206Glu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ala224Gly Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ala224Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala24Thr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ala378Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala379Val Single submitter Inborn genetic diseases ⚠
  • p.Ala471Val Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg105Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg155Gly Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg344Pro Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg372Gln Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg398Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg424Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg448Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg516Gln Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg519Cys Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg554Gln Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg554Gly Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Arg56Gly Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg578Lys Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg631Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg631Pro Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg649Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg665Ser Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg669Cys Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg669Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg91Cys Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Arg91His Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Asn227Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn510Ser Single submitter Inborn genetic diseases ⚠
  • p.Asp167Gly Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Asp324Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp400His Single submitter Inborn genetic diseases ⚠
  • p.Asp401Asn Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Asp433Gly Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Asp458Val Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asp493Val Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Asp559Asn Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Asp663Ala Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Asp694fs Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Asp694Tyr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Asp706Asn Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Cys152Tyr Single submitter ⚠
  • p.Cys419Tyr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Cys461Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys537Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys540Gly Single submitter Inborn genetic diseases ⚠
  • p.Cys541Gly Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Cys549Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Cys588Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln113Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gln222Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gln376Glu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gln587Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gln602Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu10Lys Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Glu158Gly Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Glu212Gly Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Glu240Gln Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Glu251Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu251Gln Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Glu264Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu341Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu407Gln Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Glu470Lys Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Glu501Gly Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Glu503Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu536Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu538Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu692Gly Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Glu9Gly Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly190Val Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly247Asp Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly300= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Gly384Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly384Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly450Glu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly483Glu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly494Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly543Trp Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly550Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly584Glu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly634Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly634Asp Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly634Ser Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly700Asp Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly700Ser Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Gly707Cys Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.His134Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.His18Gln Single submitter Inborn genetic diseases ⚠
  • p.His243Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.His28Tyr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.His482Gln Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.His66Tyr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.His671Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ile23Thr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ile27= Single submitter
  • p.Ile27Thr Single submitter ⚠
  • p.Ile308Met Single submitter Inborn genetic diseases ⚠
  • p.Ile351Thr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ile43Val Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ile474Ser Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ile489Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile518Lys Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Leu121Pro Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Leu133Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu312Val Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Leu528Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu547Val Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Leu595Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Leu687Val Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Leu712Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Leu712Phe Single submitter Inborn genetic diseases ⚠
  • p.Lys276Glu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys278Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys278Glu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys293Glu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys294Glu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys29Asn Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys29Met Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys311Asn Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys337Met Single submitter Inborn genetic diseases ⚠
  • p.Lys399Gln Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys428Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys429Gln Single submitter Inborn genetic diseases ⚠
  • p.Lys477Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys507_Gly508del Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Lys672Ter Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Lys676Glu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Lys696Glu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Met17Thr Single submitter Inborn genetic diseases ⚠
  • p.Met1Ile Single submitter
  • p.Met241Val Single submitter Inborn genetic diseases ⚠
  • p.Met409Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Met49Val Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Met4Thr Single submitter Inborn genetic diseases ⚠
  • p.Met570Ile Single submitter Inborn genetic diseases ⚠
  • p.Met599Thr Single submitter Inborn genetic diseases ⚠
  • p.Met664Thr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Met8Thr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Met8Val Single submitter Inborn genetic diseases ⚠
  • p.Phe680Leu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Phe691Ser Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Pro136Leu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Pro140Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro182Ser Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Pro184Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro184Ser Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Pro242Leu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Pro250Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro272Thr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Pro368Ala Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Pro381Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro564Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro60Thr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser114Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser157Asn Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser157Thr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser171Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser215Ile Single submitter Mycobacterium tuberculosis, susceptibility to ⚠
  • p.Ser225Asn Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser304Phe Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser346Leu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser356Leu Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser364Pro Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser364Tyr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Ser369Thr Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser437Arg Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser62Cys Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser62Phe Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Ser86Gly Single submitter Inborn genetic diseases ⚠
  • p.Thr125Ser Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Thr135Ile Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Thr340Ile Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Thr375Ile Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Thr3Ile Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Thr495Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr551Ser Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Thr652Met Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Thr70Ile Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Thr98Met Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Val106Ala Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Val221Ala Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • p.Val223= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Val374Ala Single submitter Inborn genetic diseases ⚠
  • p.Val391= Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome
  • p.Val408Ala Single submitter Inborn genetic diseases ⚠
  • p.Val698Met Single submitter hepatic veno-occlusive disease-immunodeficiency syndrome ⚠
  • c.752-483C>T No assertion criteria Mycobacterium tuberculosis, susceptibility to