Sugi Variant

Sugi Variant/AIRE

AIRE — 1231 ClinVar variants

All ClinVar germline AIRE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 396 flagged for review →

93 Pathogenic · 30 Pathogenic/Likely pathogenic · 86 Likely pathogenic · 39 Conflicting · 57 Benign · 15 Benign/Likely benign · 491 Likely benign · 420 Uncertain significance

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

⚑ Evidence disagreements 396

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 5

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

Predictors agree, ClinVar conflicts 19

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

Predictors lean, ClinVar uncertain 229

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 229

Predictors split 143

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

All AIRE variants

Pathogenic 93

  • c.1096-1G>A Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.132+1_132+3delinsCT Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.995+3_995+5delinsTAT Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Ala117fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Ala21Val Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala264fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg110fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg139Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg257Ter Multiple submitters Inborn genetic diseases
  • p.Asp70fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Cys311fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Cys449Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Gln173Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Gln275fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Gln349Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Gln425Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Glu40fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Leu175fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Leu320fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Leu370fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Leu417fs Multiple submitters Inborn genetic diseases
  • p.Leu87fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Met1Leu Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Met1Val Multiple submitters Inherited Immunodeficiency Diseases
  • p.Met388fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro398fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro422fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Ser187Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Thr16Met Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Trp78Arg Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.1095+1G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1095+2T>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1096-1G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-126_539-180del Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+2T>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+1G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1567-2A>G Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala202fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala500fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala5fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg12fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg257fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg356fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg471fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp36fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp439fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Cys311Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Cys419fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Cys434Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Cys437Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gln108Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gln157Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gln262Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gln293fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gln358Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gln69Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gln94Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Glu237Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Glu354Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Glu383fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Glu508Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Glu88Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gly424fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gly477Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.His319fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Leu29Pro Single submitter autoimmune polyendocrine syndrome type 1
  • p.Leu67fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Leu7_Val38del Single submitter autoimmune polyendocrine syndrome type 1
  • p.Lys114Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Lys164fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Lys253fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Met1Arg Single submitter autoimmune polyendocrine syndrome type 1
  • p.Met1Lys Single submitter autoimmune polyendocrine syndrome type 1
  • p.Met1Thr Single submitter autoimmune polyendocrine syndrome type 1
  • p.Pro116fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Pro400fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Pro405fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Pro466fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ser249fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ser324fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ser476Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ser64fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Thr183fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Thr3fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Trp455Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Tyr394Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Tyr85del Single submitter autoimmune polyendocrine syndrome type 1
  • p.Tyr90Cys Single submitter autoimmune polyendocrine syndrome type 1
  • p.Val420fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Val484fs Single submitter autoimmune polyendocrine syndrome type 1
  • c.995+(3_5 No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Glu517Ter No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Val80Gly No assertion criteria autoimmune polyendocrine syndrome type 1

Pathogenic/Likely pathogenic 30

  • c.1095+2T>C Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.1503+1G>T Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.463+2T>C Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.798+1G>A Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Ala58Gly Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg15delinsHisAlaGlyPheTer Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg15His Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg15Leu Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg203Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg433fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg494fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg92Trp Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gln173fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Gln290fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Gln290Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Glu171fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Glu53Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Gly150fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Gly155Ser Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly267fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Leu28Pro Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Leu323fs Multiple submitters autoimmune polyendocrinopathy
  • p.Leu93Arg Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro326Leu Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro539Leu Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ser412fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Ter546Ser Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Trp65Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Tyr85Cys Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Val362fs Multiple submitters autoimmune polyendocrine syndrome type 1

Likely pathogenic 86

  • c.1203_1278+28del Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.1278+1del Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.1278+1G>A Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.1279-2A>G Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.1503+1G>A Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.652+2T>C Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.798+1G>C Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.996-1G>A Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Glu423Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Leu87Pro Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Lys259Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Lys83Glu Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Thr16Arg Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Trp335Ter Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Val436fs Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.132+2T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-1G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-2A>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+1G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+2T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1401-1G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+2T>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.307+2T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.307+2T>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.308-1G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.539-2A>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.798+1G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.995+1G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.995+1G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.995+2T>C Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala19fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala21fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala432fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala58Asp Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg12Gly Single submitter
  • p.Arg15Cys Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg15Gly Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg8His Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg92Gln Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg9Pro Single submitter ⚠
  • p.Cys302Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Cys419Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gln213Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gln44Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu171Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Glu207Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Glu229fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Glu354fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Glu375delinsLeuSerLeuIleHisIleTer Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gly374fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gly469fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gly91fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ile18Met Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu32fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Leu81Pro Single submitter autoimmune polyendocrine syndrome type 1
  • p.Leu97Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys161Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Lys294Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Met1Ile Single submitter autoimmune polyendocrine syndrome type 1
  • p.Phe236fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Pro163fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Pro166fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Pro368fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Pro39fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Pro497fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ser250fs Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ter546Cys Single submitter autoimmune polyendocrine syndrome type 1
  • p.Thr16Ala Single submitter autoimmune polyendocrine syndrome type 1
  • p.Trp531Ter Single submitter autoimmune polyendocrine syndrome type 1
  • p.Tyr90His Single submitter autoimmune polyendocrine syndrome type 1
  • p.Val345fs Single submitter autoimmune polyendocrine syndrome type 1
  • c.1095+1G>A No assertion criteria autoimmune polyendocrine syndrome type 1
  • c.464-2A>T No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Ala373fs No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Cys311Tyr No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Glu270fs No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Gly467fs No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Leu7fs No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Phe543fs No assertion criteria
  • p.Pro326fs No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Ser107fs No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Ser153fs No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Ser491fs No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Trp335fs No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Trp78Ter No assertion criteria autoimmune polyendocrine syndrome type 1
  • p.Tyr85Ter No assertion criteria autoimmune polyendocrine syndrome type 1

Conflicting classifications of pathogenicity 39

  • c.1279-18C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1504-818G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+8C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.538+6C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.652+14C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.652+15G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.652+1G>T Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala373Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala403Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg247His Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg356Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg494His Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg8Cys Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asn179= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp288Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp76Asn Single submitter Inborn genetic diseases ⚠
  • p.Cys457Tyr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gln275His Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly197Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly219Ser Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly263= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gly306Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly435Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu66_Leu67insTer Single submitter autoimmune polyendocrine syndrome type 1
  • p.Leu93Gln Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys52= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Met194Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro124Leu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro200Leu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro398Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro400Leu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ser250Gly Single submitter Inborn genetic diseases ⚠
  • p.Ser464Phe Single submitter Inborn genetic diseases ⚠
  • p.Thr390Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr390Met Single submitter AIRE-related disorder ⚠
  • p.Thr441Met Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Val199Ile Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Val301Met Single submitter AIRE-related disorder ⚠
  • p.Val479Met Single submitter Inborn genetic diseases ⚠

Benign 57

Benign/Likely benign 15

  • c.1400+10C>T Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.1567-5C>T Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.880-18G>A Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Ala432= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg174His Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg471Cys Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp304= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Asp503Asn Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Leu495= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro166Leu Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro252Leu Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro355= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro361= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro492= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Ser372= Multiple submitters autoimmune polyendocrine syndrome type 1

Likely benign 491

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

  • c.1279-19G>A Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.132+16G>C Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.1567-17G>A Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.308-12C>T Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.799-17G>A Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Ala117= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Ala142= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Ala19= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg303Gln Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Arg351= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Asp312= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.His448= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Lys235= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro124= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro166= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro326= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Pro509= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Ser99= Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Val479= Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.1095+10C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1095+10C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1095+11G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1095+12C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1095+18C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1095+19C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1095+23_1095+64del Single submitter autoimmune polyendocrine syndrome type 1
  • c.1095+23_1095+64dup Single submitter autoimmune polyendocrine syndrome type 1
  • c.1095+7C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1096-10T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1096-12C>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1096-14C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1096-14C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1096-16G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1096-20T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1096-9G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1278+10G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1278+10G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1278+11A>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1278+12G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1278+13T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1278+16G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1278+18G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1278+7G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1278+7G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1278+8G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1279-12T>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1279-15T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1279-17G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1279-20C>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1279-20C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1279-4A>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1279-5C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1279-7C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1279-8T>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1279-9C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.132+11C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.132+12G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.132+12G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.132+15C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.132+15C>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.132+15C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.132+16G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.132+17C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.132+18C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.132+8C>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.132+8C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-11C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-14C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-15G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-16T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-18C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-20C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-4G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-6C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-8C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.133-9C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+10C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+11G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+12T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+15T>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+16C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+17G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+17G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+18G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+19C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+19C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+20G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+7G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+9G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1401-16T>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1401-18C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1401-19C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1401-28G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1401-4G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1401-5T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1401-7G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1401-8T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1401-9C>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+10G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+10G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+11C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+13G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+14G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+16G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+16G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+17C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+18C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+19C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+7G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+8C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+9C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1503+9C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1504-13T>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1504-14_1504-13del Single submitter autoimmune polyendocrine syndrome type 1
  • c.1504-4C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+11C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+12_1566+13del Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+12C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+12C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+13C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+14T>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+15G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+18C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+19T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+7C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+8del Single submitter
  • c.1566+9T>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1567-10T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.1567-11C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1567-17_1567-15dup Single submitter autoimmune polyendocrine syndrome type 1
  • c.1567-4G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.307+10G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.307+11G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.307+13G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.307+17T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.307+18C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.307+20G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.307+9_307+10delinsAT Single submitter autoimmune polyendocrine syndrome type 1
  • c.308-11C>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.308-11C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.308-14_308-9dup Single submitter autoimmune polyendocrine syndrome type 1
  • c.308-6C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.308-7G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.463+10C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.463+12G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.463+13C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.463+16G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.463+7del Single submitter autoimmune polyendocrine syndrome type 1
  • c.463+9C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.464-14G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.464-16C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.464-17C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.464-20C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.464-6A>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.464-6A>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.464-7C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.464-7C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.464-8C>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.538+10G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.538+13C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.538+14A>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.538+7G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.538+9G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.539-14G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.539-15T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.539-17G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.539-18G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.539-20A>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.539-6T>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.539-8T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.539-9C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.539-9C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.652+12G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.652+14C>G Single submitter
  • c.652+18G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.652+7G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.652+8C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.652+9T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.653-10C>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.653-10C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.653-12A>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.653-13C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.653-15G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.653-15G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.653-16C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.653-20C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.653-5C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.653-8C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.798+10T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.798+12_798+21del Single submitter autoimmune polyendocrine syndrome type 1
  • c.798+14C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.798+14C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.798+17C>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.798+17C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.798+19C>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.798+8C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.799-16C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.799-17G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.799-18C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.799-4G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.799-6T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.799-7C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.799-8C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.879+11A>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.879+14C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.879+15C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.879+17C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.879+20G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.879+7_879+8insA Single submitter autoimmune polyendocrine syndrome type 1
  • c.879+7C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.879+8C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.879+8C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.880-11G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.880-16C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.880-19C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.880-19C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.880-20G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.880-20G>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.880-6T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.880-7G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.880-7G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.880-8T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.880-9C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.995+10C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.995+10C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.995+11_995+18del Single submitter autoimmune polyendocrine syndrome type 1
  • c.995+12C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.995+12C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.995+13C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.995+14T>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.995+15C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.996-15T>C Single submitter autoimmune polyendocrine syndrome type 1
  • c.996-20_996-17del Single submitter autoimmune polyendocrine syndrome type 1
  • c.996-4G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.996-6G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.996-7C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.996-9C>T Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala134= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala138= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala140= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala141= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala170= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala205= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala21= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala258= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala261= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala265= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala281= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala284= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala300= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala31= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala373= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala386= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala413= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala450= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala451= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala461= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala489= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala5= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala505= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala540= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala541= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala58= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala6= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala61= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg113= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg139Gly Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg15= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg247= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg316= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg328= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg336= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg356= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg371= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg433= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg445= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg456= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg465= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg465Gln Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg473= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg79= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg8= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg9= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg92= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp103= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp198= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp297= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp34= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp389= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp4= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp41= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp410= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp439= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp442= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp478= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp515= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp76= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Asp98= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Cys310= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Cys340= Single submitter autoimmune polyendocrine syndrome type 1

Uncertain significance 420

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

  • c.1095+5G>T Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.1566+5C>T Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.463+5C>A Multiple submitters autoimmune polyendocrine syndrome type 1
  • c.652+6C>T Multiple submitters autoimmune polyendocrine syndrome type 1
  • p.Ala152Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala170Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala265Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala281Thr Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala432Val Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala450Thr Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala493Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala540Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg174Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg203Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg316Gln Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg328Gln Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg328Trp Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg351Gln Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg356Trp Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg378Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg445Gln Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg456His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg465Trp Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg79Thr Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg89Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp238Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Asp442Glu Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp4Val Multiple submitters Inborn genetic diseases ⚠
  • p.Asp502Val Multiple submitters Inborn genetic diseases ⚠
  • p.Cys449Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gln182Pro Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gln225Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln57Glu Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu207Lys Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu298Lys Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu485Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly178Arg Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly180Arg Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly197Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly387Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly408Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly438Arg Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly462Ser Multiple submitters AIRE-related disorder ⚠
  • p.Gly467Arg Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly486Arg Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.His415Arg Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ile309Met Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ile309Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu63Met Multiple submitters Inborn genetic diseases ⚠
  • p.Lys114Asn Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys164Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys221Asn Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Met184Thr Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Met184Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met194Thr Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro109Ala Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro116Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro148Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro162Leu Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro163His Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro176Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro289Thr Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro331Leu Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro357Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro368Leu Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro398Arg Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro405Leu Multiple submitters AIRE-related disorder ⚠
  • p.Pro416Ser Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro490Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro56Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser153Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Ser220Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser250Cys Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ser372Leu Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ser412Leu Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ser476Leu Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Thr147Ile Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Thr334Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr344Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr364Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr46Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val118Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Val206Met Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Val301Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val362Leu Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Val484Met Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • p.Val80Met Multiple submitters autoimmune polyendocrine syndrome type 1 ⚠
  • c.1095+4T>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1278+5dup Single submitter autoimmune polyendocrine syndrome type 1
  • c.1278+6C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.132+5G>A Single submitter
  • c.132+5G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+3G>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.1400+6T>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1401-10T>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1401-5T>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+4A>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.1566+6G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.1567-1G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.307+4G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.308-18C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.308-3C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.463+5C>T Single submitter autoimmune polyendocrine syndrome type 1
  • c.463+6C>G Single submitter autoimmune polyendocrine syndrome type 1
  • c.464-26A>G Single submitter
  • c.538+3G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.653-7C>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.653-9T>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.798+2dup Single submitter
  • c.798+5G>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.880-17T>A Single submitter autoimmune polyendocrine syndrome type 1
  • c.996-14G>A Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala142Ser Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala142Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala142Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala145Ser Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala145Val Single submitter ⚠
  • p.Ala160Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala160Val Single submitter Inborn genetic diseases ⚠
  • p.Ala205Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala25Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala25Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala264Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala265Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala284Gly Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala284Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala300Asp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala300Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala31Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala321Asp Single submitter ⚠
  • p.Ala352_Arg356dup Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala352Glu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala399Asp Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala399Ser Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala404Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala413Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala429Ser Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala432Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala451Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala452Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala489Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala489Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala493Gly Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala510Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala532Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala537Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala537Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala541Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala58Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala5Leu Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ala5Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Ala61Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg110Gln Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg139Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg174Gly Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg247Cys Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg257Pro Single submitter Inborn genetic diseases ⚠
  • p.Arg272Ser Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg303Trp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg316Gly Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg316Trp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg336Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg351Gly Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg351Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg351Trp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg356_Pro360del Single submitter autoimmune polyendocrine syndrome type 1
  • p.Arg433Cys Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg433His Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg445Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg445Trp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg456Cys Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg465Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg471His Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg473Lys Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg473Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg494Cys Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg494Leu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg538Cys Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg538Gly Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg538His Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg538Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg89Cys Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Arg9Trp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asn179Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn295Ser Single submitter ⚠
  • p.Asp238His Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp23Asn Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp23Gly Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp297Asn Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp34Glu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp36Glu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp41Asn Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp41Gly Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp439Glu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp478Asn Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp4Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp4Asn Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Asp84Asn Single submitter ⚠
  • p.Cys337Phe Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Cys419Phe Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Cys419Tyr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Cys434Trp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Cys437Tyr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Cys472Tyr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Cys475Tyr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gln108Leu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gln213Glu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gln262Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gln276Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gln290His Single submitter Inborn genetic diseases ⚠
  • p.Gln293= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gln530Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln530Leu Single submitter Inborn genetic diseases ⚠
  • p.Gln57Pro Single submitter Inborn genetic diseases ⚠
  • p.Glu137Gln Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu171Lys Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu17Ala Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu17Asp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu270Lys Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu296Asp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu329Lys Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu359Lys Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu363Asp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu375Gly Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu376Asp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu40Gln Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Glu423Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu508Gln Single submitter Inborn genetic diseases ⚠
  • p.Gly178= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gly180Asp Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gly204Trp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly219Asp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly227Asp Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gly228Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly277= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gly333= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gly369Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly374Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly379Asp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly424Asp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly424Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly435Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly462Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly467= Single submitter autoimmune polyendocrine syndrome type 1
  • p.Gly467Ala Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly498Glu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Gly527Ser Single submitter autoimmune polyendocrine syndrome type 1
  • p.His14Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.His30Tyr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.His396Asp Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.His415Tyr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.His448Gln Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.His458Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.His48del Single submitter autoimmune polyendocrine syndrome type 1
  • p.Ile96Leu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu106Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu122Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu128Ile Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu13Pro Single submitter ⚠
  • p.Leu146Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu158Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu175Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu291Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu327Ile Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu327Phe Single submitter ⚠
  • p.Leu392Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu417Ile Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu417Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu428Val Single submitter Inborn genetic diseases ⚠
  • p.Leu444Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu470Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu470Pro Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu488Met Single submitter Inborn genetic diseases ⚠
  • p.Leu519Phe Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu62Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Leu87Val Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys102Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys111Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys159Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys161_Pro162del Single submitter autoimmune polyendocrine syndrome type 1
  • p.Lys164Glu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys165Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys243Glu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys245Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys245Gln Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys245Glu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys50Arg Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Lys52Glu Single submitter Inborn genetic diseases ⚠
  • p.Met536Ile Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Phe236Leu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro109Leu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro119Thr Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro124Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro126Ser Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro154Leu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro162Ser Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro163Leu Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro280Ser Single submitter ⚠
  • p.Pro286Ala Single submitter autoimmune polyendocrine syndrome type 1 ⚠
  • p.Pro325Leu Single submitter ⚠