Sugi Variant

Sugi Variant/AP3B1

AP3B1 — 965 ClinVar variants

All ClinVar germline AP3B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 412 flagged for review →

42 Pathogenic · 4 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 32 Conflicting · 51 Benign · 20 Benign/Likely benign · 340 Likely benign · 447 Uncertain significance

Full AP3B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 412

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 1

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

Predictors agree, ClinVar conflicts 6

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

Predictors lean, ClinVar uncertain 217

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 217

Predictors split 188

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 188

All AP3B1 variants

Pathogenic 42

  • p.Lys59fs Multiple submitters autoinflammatory syndrome
  • c.1363+1G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1839_1842delTAGA Single submitter Hermansky-Pudlak syndrome 2
  • c.2249+1del Single submitter
  • c.2470+1G>A Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala541fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg122Ter Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg407Ter Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg509Ter Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg912Ter Single submitter Hermansky-Pudlak syndrome 2
  • p.Asn934fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Gln419Ter Single submitter Hermansky-Pudlak syndrome 2
  • p.Gln470fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Gly429fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Ile597fs Single submitter Hermansky-Pudlak syndrome
  • p.Ile919fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu450fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu636Ter Single submitter Hermansky-Pudlak syndrome 2
  • p.Lys913fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Lys923fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Met209fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Met899fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Phe368fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Phe80fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Pro644fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Pro662fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Pro840fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Pro892fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Trp260fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Trp260Ter Single submitter Hermansky-Pudlak syndrome 2
  • p.Trp660Ter Single submitter Hermansky-Pudlak syndrome 2
  • p.Tyr251Ter Single submitter Hermansky-Pudlak syndrome 2
  • c.1473+6T>C No assertion criteria Hermansky-Pudlak syndrome 2
  • c.1474-7072_1650+921del No assertion criteria Hermansky-Pudlak syndrome 2
  • p.Arg302Ter No assertion criteria Hermansky-Pudlak syndrome 2
  • p.Glu659Ter No assertion criteria Hermansky-Pudlak syndrome 2
  • p.Leu390_Gln410del No assertion criteria Hermansky-Pudlak syndrome 2
  • p.Leu580Arg No assertion criteria Hermansky-Pudlak syndrome 2
  • p.Ser901Cys No assertion criteria Hermansky-Pudlak syndrome 2 ⚠
  • p.Thr424fs No assertion criteria Hermansky-Pudlak syndrome 2
  • p.Trp239Ter No assertion criteria Hermansky-Pudlak syndrome 2
  • p.Val585fs No assertion criteria Hermansky-Pudlak syndrome 2

Pathogenic/Likely pathogenic 4

  • p.Arg104Ter Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Arg649Ter Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Gly881fs Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Thr1006fs Multiple submitters Hermansky-Pudlak syndrome 2

Likely pathogenic 29

  • c.2078-1G>A Multiple submitters Hermansky-Pudlak syndrome 2
  • c.1041-2A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.129-1G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1364-2A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1474-2A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1651-1G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1651-2A>T Single submitter Hermansky-Pudlak syndrome
  • c.1837+2T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.2072_2077+2del Single submitter Hermansky-Pudlak syndrome 2
  • c.280-2A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.2894+1G>T Single submitter Hermansky-Pudlak syndrome 2
  • c.522_536+81del Single submitter Hermansky-Pudlak syndrome 2
  • c.786+1G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.942+1G>T Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg132Pro Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg341fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Asp181fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Asp766fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Cys507_Glu508delinsTer Single submitter Hermansky-Pudlak syndrome 2
  • p.Gln618Ter Single submitter Hermansky-Pudlak syndrome 2
  • p.Glu348Ter Single submitter Hermansky-Pudlak syndrome 2
  • p.Glu785fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Glu800fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Lys967fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Ser1052fs Single submitter AP3B1-related disorder
  • p.Ser403fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Ser461fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Val1050fs Single submitter Hermansky-Pudlak syndrome 2
  • p.Val242fs Single submitter Hermansky-Pudlak syndrome 2

Conflicting classifications of pathogenicity 32

  • c.1168-3T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1168-9C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.1364-11A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.3131+1G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.537-7T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.537-9A>G Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala173= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala314= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala400Pro Single submitter Hermansky-Pudlak syndrome 2 ⚠
  • p.Ala474Val Single submitter Hermansky-Pudlak syndrome 2 ⚠
  • p.Ala600Ser Single submitter Hermansky-Pudlak syndrome 2 ⚠
  • p.Ala630= Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg876Gln Single submitter Hermansky-Pudlak syndrome 2 ⚠
  • p.Asn395Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn972Ser Single submitter Hermansky-Pudlak syndrome ⚠
  • p.Asp770= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gln1069= Single submitter Hermansky-Pudlak syndrome 2
  • p.Glu681Gly Single submitter autoinflammatory syndrome ⚠
  • p.Gly704= Single submitter Hermansky-Pudlak syndrome 2
  • p.His850Asn Single submitter Hermansky-Pudlak syndrome 2 ⚠
  • p.Ile357Val Single submitter Hermansky-Pudlak syndrome 2 ⚠
  • p.Leu964= Single submitter Hermansky-Pudlak syndrome 2
  • p.Lys923Asn Single submitter Hermansky-Pudlak syndrome 2 ⚠
  • p.Pro583= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ser1066Phe Single submitter Hermansky-Pudlak syndrome 2 ⚠
  • p.Ser527Asn Single submitter Hermansky-Pudlak syndrome 2 ⚠
  • p.Ser780= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ser782Phe Single submitter Hermansky-Pudlak syndrome 2 ⚠
  • p.Tyr101= Single submitter autoinflammatory syndrome
  • p.Tyr274= Single submitter Hermansky-Pudlak syndrome 2
  • p.Tyr568= Single submitter Hermansky-Pudlak syndrome 2
  • p.Val340= Single submitter autoinflammatory syndrome

Benign 51

Benign/Likely benign 20

  • c.1040+9T>A Multiple submitters autoinflammatory syndrome
  • c.1969-10G>A Multiple submitters Hermansky-Pudlak syndrome 2
  • c.2250-6G>A Multiple submitters Hermansky-Pudlak syndrome 2
  • c.2810-4C>T Multiple submitters autoinflammatory syndrome
  • p.Ala113= Multiple submitters autoinflammatory syndrome
  • p.Ala960= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.His871= Multiple submitters autoinflammatory syndrome
  • p.Ile456Thr Multiple submitters Hermansky-Pudlak syndrome 2 ⚠
  • p.Ile775Lys Multiple submitters autoinflammatory syndrome
  • p.Leu229= Multiple submitters autoinflammatory syndrome
  • p.Leu372= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Leu396= Multiple submitters autoinflammatory syndrome
  • p.Leu561= Multiple submitters autoinflammatory syndrome
  • p.Leu619= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Lys804del Multiple submitters autoinflammatory syndrome
  • p.Phe887Leu Multiple submitters autoinflammatory syndrome
  • p.Ser134= Multiple submitters autoinflammatory syndrome
  • p.Thr439= Multiple submitters autoinflammatory syndrome
  • p.Thr862Ile Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Val999Met Multiple submitters autoinflammatory syndrome

Likely benign 340

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1167+143C>T Multiple submitters
  • c.1167+8T>C Multiple submitters Hermansky-Pudlak syndrome 2
  • c.128+91G>A Multiple submitters
  • c.1364-57T>C Multiple submitters
  • c.1474-18A>T Multiple submitters Hermansky-Pudlak syndrome 2
  • c.1837+10G>A Multiple submitters Hermansky-Pudlak syndrome 2
  • c.205-12T>C Multiple submitters Hermansky-Pudlak syndrome 2
  • c.279+16A>G Multiple submitters Hermansky-Pudlak syndrome 2
  • c.280-14_280-13dup Multiple submitters Hermansky-Pudlak syndrome 2
  • c.2993-5T>C Multiple submitters Hermansky-Pudlak syndrome 2
  • c.603+19C>T Multiple submitters Hermansky-Pudlak syndrome 2
  • c.*41A>G Multiple submitters
  • p.Arg809= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Asp235= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Asp285= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Asp808= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Gly13= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Ile951= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Leu102= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Lys923= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Pro216= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Pro830= Multiple submitters Hermansky-Pudlak syndrome 2
  • p.Val900= Multiple submitters Hermansky-Pudlak syndrome 2
  • c.1040+10G>T Single submitter
  • c.1040+14T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1040+15T>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1040+16A>T Single submitter Hermansky-Pudlak syndrome 2
  • c.1040+17T>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1040+19T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1040+20A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1041-15T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1041-19A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1041-9G>T Single submitter Hermansky-Pudlak syndrome 2
  • c.1095+17C>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1095+19C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.1095+20G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1095+20G>T Single submitter Hermansky-Pudlak syndrome 2
  • c.1095+7A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1095+9G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1096-16T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1096-7A>T Single submitter Hermansky-Pudlak syndrome 2
  • c.1096-9G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1167+11T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1167+15A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1168-12_1168-8del Single submitter Hermansky-Pudlak syndrome 2
  • c.1168-20T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1168-252G>A Single submitter
  • c.1168-4A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1168-5T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1168-7A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1230+10C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.1230+12G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1230+12G>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1230+13T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1231-9A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.128+10A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.128+20T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.128+280_128+283del Single submitter
  • c.128+8G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.129-14_129-10del Single submitter Hermansky-Pudlak syndrome 2
  • c.129-14_129-12del Single submitter Hermansky-Pudlak syndrome 2
  • c.129-14C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.129-19T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.129-9_129-8del Single submitter Hermansky-Pudlak syndrome 2
  • c.1363+10C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.1364-11_1364-8del Single submitter Hermansky-Pudlak syndrome 2
  • c.1364-15T>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1364-4del Single submitter Hermansky-Pudlak syndrome 2
  • c.1473+11A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1473+15A>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1473+16G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1473+17A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1474-14G>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1650+14G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1650+15T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1650+17A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1650+18dup Single submitter Hermansky-Pudlak syndrome 2
  • c.1650+20C>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1651-11T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1651-12T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1651-14dup Single submitter Hermansky-Pudlak syndrome 2
  • c.1651-5A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1651-7C>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1651-8T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1651-9T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1837+12A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1837+16A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1837+7T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1838-11A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1838-13C>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1838-16T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1838-5A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1968+8del Single submitter Hermansky-Pudlak syndrome 2
  • c.1968+9A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.1969-15T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1969-17T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.1969-20T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.1969-20T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.204+13C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.204+14T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.205-10del Single submitter Hermansky-Pudlak syndrome 2
  • c.205-10T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.205-14T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.205-20C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.2077+18T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.2078-11C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.2078-14G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.2078-18T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.2250-13C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.2397+13A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.2397+7del Single submitter Hermansky-Pudlak syndrome 2
  • c.2398-12del Single submitter Hermansky-Pudlak syndrome 2
  • c.2398-12G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.2398-16A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.2398-18A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.2470+10G>C Single submitter Hermansky-Pudlak syndrome 2
  • c.2470+9dup Single submitter Hermansky-Pudlak syndrome 2
  • c.2471-16G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.2471-16G>C Single submitter Hermansky-Pudlak syndrome 2
  • c.2471-20A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.2471-4A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.2577+7T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.2577+9T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.2578-12C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.2578-7G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.279+18A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.279+19A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.279+7T>C Single submitter
  • c.279+9T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.280-15del Single submitter Hermansky-Pudlak syndrome 2
  • c.280-16G>T Single submitter Hermansky-Pudlak syndrome 2
  • c.280-5A>T Single submitter Hermansky-Pudlak syndrome 2
  • c.280-6T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.2809+120A>G Single submitter
  • c.2809+14C>A Single submitter Hermansky-Pudlak syndrome 2
  • c.2809+14C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.2809+15T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.2809+16C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.2809+20T>G Single submitter Hermansky-Pudlak syndrome 2
  • c.2809+8T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.2810-10T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.2810-227T>C Single submitter
  • c.2810-7T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.2810-9A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.2894+10A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.2894+19C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.2895-12G>T Single submitter Hermansky-Pudlak syndrome 2
  • c.2895-16G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.2895-19T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.2992+10G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.2992+20T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.2993-10_2993-7del Single submitter Hermansky-Pudlak syndrome 2
  • c.2993-12T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.2993-14T>G Single submitter Hermansky-Pudlak syndrome 2
  • c.3131+104TA[7] Single submitter
  • c.3131+18C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.3131+19G>C Single submitter Hermansky-Pudlak syndrome 2
  • c.3131+8C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.3132-16C>T Single submitter Hermansky-Pudlak syndrome 2
  • c.3132-299A>C Single submitter
  • c.3132-5T>C Single submitter Hermansky-Pudlak syndrome 2
  • c.375+11G>T Single submitter Hermansky-Pudlak syndrome 2
  • c.375+18T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.376-11A>C Single submitter Hermansky-Pudlak syndrome 2
  • c.376-13G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.536+20del Single submitter Hermansky-Pudlak syndrome 2
  • c.536+8C>A Single submitter Hermansky-Pudlak syndrome 2
  • c.536+9A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.603+16T>G Single submitter Hermansky-Pudlak syndrome 2
  • c.603+20G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.603+7A>T Single submitter Hermansky-Pudlak syndrome 2
  • c.604-12T>A Single submitter Hermansky-Pudlak syndrome 2
  • c.604-17A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.786+14A>T Single submitter Hermansky-Pudlak syndrome 2
  • c.786+15G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.786+15G>C Single submitter Hermansky-Pudlak syndrome 2
  • c.787-4G>A Single submitter Hermansky-Pudlak syndrome 2
  • c.942+17A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.942+17A>T Single submitter Hermansky-Pudlak syndrome 2
  • c.942+8A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.943-9A>G Single submitter Hermansky-Pudlak syndrome 2
  • c.943-9A>T Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala106= Single submitter
  • p.Ala1068= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala170= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala171= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala318= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala484= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala497= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala604= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala643= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala657= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala71= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala740= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ala76= Single submitter
  • p.Ala864= Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg227= Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg250= Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg253= Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg298= Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg407= Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg578= Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg614Ile Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg649= Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg730= Single submitter Hermansky-Pudlak syndrome 2
  • p.Arg912= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asn1041= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asn434= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asn452= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asn538= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asn638= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asn670= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asn825= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asn974= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asp381= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asp569= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asp645= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asp777= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asp952= Single submitter Hermansky-Pudlak syndrome 2
  • p.Asp969= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gln241= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gln321= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gln350= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gln535= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gln724= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gln891= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gln903= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gln976= Single submitter Hermansky-Pudlak syndrome 2
  • p.Glu528= Single submitter Hermansky-Pudlak syndrome 2
  • p.Glu678= Single submitter Hermansky-Pudlak syndrome 2
  • p.Glu708= Single submitter
  • p.Gly1053= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gly1065= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gly1094= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gly21= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gly333= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gly35= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gly366= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gly588= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gly664= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gly881= Single submitter Hermansky-Pudlak syndrome 2
  • p.Gly998= Single submitter Hermansky-Pudlak syndrome 2
  • p.His246= Single submitter Hermansky-Pudlak syndrome 2
  • p.His325= Single submitter Hermansky-Pudlak syndrome 2
  • p.His616= Single submitter
  • p.His931= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ile1079= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ile28= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ile425= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ile490= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ile503= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu1000= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu1055= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu1057= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu1062= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu1091= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu130= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu139= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu177= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu221= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu266= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu300= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu322= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu342= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu36= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu390= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu449= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu450= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu469= Single submitter
  • p.Leu543= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu554= Single submitter
  • p.Leu559= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu606= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu607= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu626= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu734= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu818= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu819= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu874= Single submitter Hermansky-Pudlak syndrome 2
  • p.Leu924= Single submitter Hermansky-Pudlak syndrome 2
  • p.Lys1025= Single submitter Hermansky-Pudlak syndrome 2
  • p.Lys1088= Single submitter Hermansky-Pudlak syndrome 2
  • p.Lys305= Single submitter Hermansky-Pudlak syndrome 2
  • p.Lys629= Single submitter Hermansky-Pudlak syndrome 2
  • p.Lys665= Single submitter Hermansky-Pudlak syndrome 2
  • p.Lys667= Single submitter Hermansky-Pudlak syndrome 2
  • p.Lys869= Single submitter Hermansky-Pudlak syndrome 2
  • p.Lys991= Single submitter Hermansky-Pudlak syndrome 2
  • p.Phe375= Single submitter Hermansky-Pudlak syndrome 2
  • p.Phe420= Single submitter Hermansky-Pudlak syndrome 2
  • p.Phe675= Single submitter Hermansky-Pudlak syndrome 2
  • p.Pro1019Ser Single submitter Inborn genetic diseases
  • p.Pro290= Single submitter Hermansky-Pudlak syndrome 2
  • p.Pro644= Single submitter Hermansky-Pudlak syndrome 2
  • p.Pro811= Single submitter Hermansky-Pudlak syndrome 2
  • p.Pro826= Single submitter Hermansky-Pudlak syndrome 2
  • p.Pro834= Single submitter Hermansky-Pudlak syndrome 2
  • p.Pro867= Single submitter Hermansky-Pudlak syndrome 2
  • p.Pro941= Single submitter Hermansky-Pudlak syndrome 2
  • p.Ser1020= Single submitter Hermansky-Pudlak syndrome 2

Uncertain significance 447

Showing the top 300 by review status; the full set is in the sitemap.