Sugi Variant

Sugi Variant/FOXN1

FOXN1 — 864 ClinVar variants

All ClinVar germline FOXN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 343 flagged for review →

46 Pathogenic · 3 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 20 Conflicting · 26 Benign · 7 Benign/Likely benign · 337 Likely benign · 396 Uncertain significance

Full FOXN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 343

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 9

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

Predictors lean, ClinVar uncertain 304

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 304

Predictors split 29

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

All FOXN1 variants

Pathogenic 46

  • p.Arg114Ter Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Arg255Ter Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Arg320Trp Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp313fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Cys82Ter Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gln474Ter Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His457fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro401fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser188fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser459Ter Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Tyr241Ter Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Val294Ile Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro395fs Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Trp363fs Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Arg341fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Arg482fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp164fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gln40Ter Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gln440Ter Single submitter
  • p.Glu22Ter Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly21fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly393fs Single submitter
  • p.Gly418fs Single submitter severe combined immunodeficiency
  • p.Gly435fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His478fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu33fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu384fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu439fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu442fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Lys355fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Met444fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Phe231fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Phe269fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro152fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro244fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro272fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro402fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro428fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro464fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro65fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser275fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser3fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser407Ter Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Thr487fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Trp346fs Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Trp363_Pro368delinsCys No assertion criteria Nezelof syndrome

Pathogenic/Likely pathogenic 3

  • p.Gln489fs Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu413fs Multiple submitters FOXN1-related disorders
  • p.Pro416fs Multiple submitters FOXN1-related disorders

Likely pathogenic 29

  • p.Glu303fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu390fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly337fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly526_Thr527insTer Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His321Arg Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ile433fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu325Pro Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu426fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu456Ter Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu529fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro350Leu Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro465fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro473fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Tyr455fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Val294Leu Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1135+1_1135+2delinsAG Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asn349fs Multiple submitters FOXN1-related disorders
  • c.123+1G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.124-2A>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.830+1G>T Single submitter
  • p.Cys399fs Single submitter
  • p.Gln29Ter Single submitter T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
  • p.Gly486fs Single submitter T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
  • p.His265fs Single submitter T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
  • p.Leu536fs Single submitter FOXN1-related disorders
  • p.Met223Arg Single submitter ⚠
  • p.Trp180Ter Single submitter FOXN1-related disorders
  • p.Trp546Ter Single submitter T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant
  • p.Tyr451fs Single submitter

Conflicting classifications of pathogenicity 20

  • c.123+10C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1627+6C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.589-12C>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala107= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala166Val Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg411Gln Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asn182= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp540Asn Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp54Glu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu359Lys Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu184Ile Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Lys377= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Phe329= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro14= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro230Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ser553Gly Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ser605= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Thr518= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Val134Ile Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Val645Met Single submitter Inborn genetic diseases ⚠

Benign 26

Benign/Likely benign 7

  • c.123+11G>A Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*20G>C Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp54= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu481= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser3= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser405= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Tyr245= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Likely benign 337

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

  • c.1135+20G>A Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala121Val Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala38= Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala555Val Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Arg128Trp Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Cys586Tyr Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly238Asp Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro395Leu Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser569Tyr Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Thr310= Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Thr629Met Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1135+10G>A Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1135+9G>A Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.124-9T>C Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.830+14T>C Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.831-29G>T Multiple submitters
  • c.-14-69G>T Multiple submitters
  • c.*13T>A Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp133= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp164= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp476= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp552= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Cys580= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu137= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His191= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro312= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro468= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro492= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro57= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro61= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro625= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro627= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro644= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser235= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser491= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Thr262= Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1135+12C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1135+13G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1135+16C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1135+18A>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1135+19C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1135+20G>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1135+7C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1135+9G>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1136-13_1136-12del Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1136-13T>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1136-16C>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1136-8C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.123+10C>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.123+12G>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.123+13C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.123+18G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.123+25_123+42del Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.123+8C>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.124-11T>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.124-12C>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.124-12C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.124-16_124-15delinsTA Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.124-16C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.124-18T>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.124-4C>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.124-5C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1627+11G>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1627+11G>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1627+12G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1627+15G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1627+16G>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1627+8G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1628-10C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1628-13_1628-12del Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1628-13C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1628-14C>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1628-5del Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1628-9C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.588+11G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.588+15C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.588+17A>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.588+18G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.588+20G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.588+9T>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.589-10C>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.589-10C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.589-110A>T Single submitter
  • c.589-16C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.589-20T>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.589-4G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.589-9T>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.699+10G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.699+11G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.699+156C>T Single submitter
  • c.699+17T>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.699+184T>G Single submitter
  • c.699+18G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.699+20G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.699+22C>A Single submitter
  • c.699+7C>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.699+8T>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.700-16C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.700-18C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.700-19C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.700-20G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.700-7T>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.700-9C>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.700-9C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.830+10C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.830+13C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.830+18_830+19inv Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.830+8T>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.831-12C>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.831-14T>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.831-17G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.831-18G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.831-19G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.831-5T>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.831-6del Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.927+18C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.927+8C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.927+9A>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.928-12C>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.928-20G>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.928-20G>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.928-4G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.928-4G>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.928-6C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.-14-163TC[22] Single submitter
  • c.-14-43T>C Single submitter
  • c.-14-45del Single submitter
  • c.*626G>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala109= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala121= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala138= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala143= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala166= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala168= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala170= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala179= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala211= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala414= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala44= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala463= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala495= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala503= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala507= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala555= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala599= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala607= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala630= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala646= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala648= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala71= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala84= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Arg255= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Arg365= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Arg372= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Arg482= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Arg59= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asn544= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp10= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp313= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp517= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp610= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Cys225= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Cys82= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gln228= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gln254= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gln357= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gln40= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gln440= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu106= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu132= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu159= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu178= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu190= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu22= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu296= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu358= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu547= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu624= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu76= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly113= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly183= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly192= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly210= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly212= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly247= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly264= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly290= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly32= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly398= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly445= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly526= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly55= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly593= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly603= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly604= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly606= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly633= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly87= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His120= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His131= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His250= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His304= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His427= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His478= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His501= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His516= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.His579= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ile161= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ile297= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ile353= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ile385= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu116= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu13= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu155= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu172= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu184= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu19= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu196= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu220= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu268= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu27= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu323= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu325= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu345= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu392= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu397= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu404= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu456= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu458= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu462= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu505= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu554= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu556= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu561= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu597= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu63= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu638= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu93= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Lys117= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Lys331= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Lys355= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Lys373= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Phe102= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Phe158= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Phe171= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Phe269= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Phe305= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Phe539= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Phe620= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro100= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro122= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro125= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro152= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro154= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro173= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro187= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro193= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro218= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro219= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro229= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro230= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro270= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro293= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro31= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro350= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro400= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro401= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro412= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro415= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro416= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro421= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro422= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro438= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro467= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro470= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro475= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro5= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro509= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro558= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro566= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro576= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro582= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro6= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro600= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro628= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro65= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro68= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro7= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro75= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro7Leu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro86= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser148= Single submitter
  • p.Ser209= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser227= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser275= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser291= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser295= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser318= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser383= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser394= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy

Uncertain significance 396

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

  • c.1135+5G>C Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.124-17A>T Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.699+1G>T Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.928-2A>G Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala121Thr Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg341Cys Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Trp346Arg Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Tyr617fs Expert panel T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.1135+3G>A Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*165C>G Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala143Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala347Thr Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ala417Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala429Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala512Asp Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ala594Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala619Pro Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ala632Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala71Val Multiple submitters Inborn genetic diseases ⚠
  • p.Arg411Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg482Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg482Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Asn544Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asp263Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp517Asn Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asp517Tyr Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asp54Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Cys586fs Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gln217Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu156Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu159Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu169Lys Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu22Lys Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu330Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu508Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu58Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu622Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu622Lys Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu76Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gly183Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly237Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly239Asp Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly406Ser Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly418Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly435Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly452Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gly633Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly85Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly87Ser Multiple submitters Inborn genetic diseases ⚠
  • p.His131Arg Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.His191Arg Multiple submitters Inborn genetic diseases ⚠
  • p.His427Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His457Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His612Arg Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ile278Val Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ile369Thr Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu19Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Leu325Phe Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu397Arg Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu439Met Multiple submitters Inborn genetic diseases ⚠
  • p.Met444Lys Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Met571Val Multiple submitters Inborn genetic diseases ⚠
  • p.Pro125Leu Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Pro125Thr Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro173Ser Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro229Ser Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro230Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro242Ser Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro258Thr Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro31Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro415Ser Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro421Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro430Leu Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro432His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro438His Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro485Leu Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro558Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro566Leu Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro56Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro576Leu Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro578His Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro600Leu Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro634Ser Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro6Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro73Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro86Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ser235Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Ser291Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser570del Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ser570Leu Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ser641Gly Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Thr302Met Multiple submitters Inborn genetic diseases
  • p.Thr626Met Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Trp180Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr99Cys Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Val11Ile Multiple submitters T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Val165Met Multiple submitters Inborn genetic diseases ⚠
  • c.1136-10G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.124-14C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.588+17_588+18delinsCC Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.588+1G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.699+3_699+6del Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.699+4G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.830+4C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.927+4_927+5del Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.927+6C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.928-5G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.-11A>T Single submitter
  • c.-14-28A>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*154G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*15C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*206G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*280C>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*300C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*318A>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*323G>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*454A>C Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*461C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*496C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*533G>A Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*53C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*620C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*622C>G Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • c.*66C>T Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala108Thr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ala157Asp Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ala168Thr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ala168Val Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ala311Val Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ala38Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala414Glu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ala463Thr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ala512Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala594Gly Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ala594Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala599His Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ala630Asp Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg114Gln Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg23Cys Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg23His Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg23Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg255Gln Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg320Gln Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg341His Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg372Cys Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg372His Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg513Gly Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Arg513Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg69His Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asn317Thr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asn322Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asn322Tyr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asn349Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn349Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asn437Asp Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asn544Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asp10Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp263Glu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asp313Asn Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asp354Asn Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asp382Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp441Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp476Ala Single submitter Inborn genetic diseases ⚠
  • p.Asp490Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp522Gly Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asp538Asn Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asp54Gly Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asp551Asn Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Asp551Tyr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asp557Asn Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asp557Glu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Asp97Gly Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Cys181Tyr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Cys344Tyr Single submitter ⚠
  • p.Cys399Phe Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gln194His Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gln228Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gln233Lys Single submitter T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant ⚠
  • p.Gln259His Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gln266His Single submitter Inborn genetic diseases ⚠
  • p.Gln440Glu Single submitter Inborn genetic diseases ⚠
  • p.Gln440Lys Single submitter T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant ⚠
  • p.Gln474Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gln474Glu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gln489Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gln489Glu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu139Gly Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu139Lys Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu156Gln Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu160Asp Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu169_Leu172del Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Glu178Asp Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu190Lys Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu199Val Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu20Gln Single submitter Inborn genetic diseases ⚠
  • p.Glu333Lys Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu380Asp Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu380Lys Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu480Gln Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Glu480Lys Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly146Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly146Glu Single submitter FOXN1-related disorder ⚠
  • p.Gly153Glu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly15Asp Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly192Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly21= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly210Ala Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly212Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly21Asp Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly247Val Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly25Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly343Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly386Glu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly393Asp Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly398Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly403Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly45Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly461= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly461Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly461Val Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly477Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly523Arg Single submitter ⚠
  • p.Gly543Glu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly55Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly584= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly591Val Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly595Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly603Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly604Val Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly606Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly606Glu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly609_Asp610insTer Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Gly609Asp Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly85Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Gly89Trp Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.His124Tyr Single submitter ⚠
  • p.His222Tyr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.His232Gln Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.His321Asn Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.His321Tyr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.His43Tyr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.His478Tyr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.His516Asn Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ile243_Leu246delinsMet Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ile243Leu Single submitter Inborn genetic diseases ⚠
  • p.Ile273Val Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Ile297Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ile297Thr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ile385Thr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ile433Phe Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ile433Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ile532Leu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Ile532Val Single submitter Inborn genetic diseases ⚠
  • p.Leu13Pro Single submitter Inborn genetic diseases ⚠
  • p.Leu196Val Single submitter Inborn genetic diseases ⚠
  • p.Leu268Val Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu27Phe Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu27Pro Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu323Pro Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu404fs Single submitter
  • p.Leu423Val Single submitter T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant ⚠
  • p.Leu439Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu443Phe Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu462Pro Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu471Trp Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu479His Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu479Pro Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu525Pro Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu545Pro Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Leu554Phe Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu608= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Leu647Pro Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Lys309= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Lys355Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Lys42= Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Met213Thr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Met223Leu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Met28Thr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Met28Val Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Met375Thr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Met515Ile Single submitter Inborn genetic diseases ⚠
  • p.Met571Thr Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Phe104_Glu105insGlyPhe Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy
  • p.Phe115Leu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Phe149Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Phe541Leu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Phe581Ile Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro112Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro112Leu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro14Leu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro14Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro154Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro154Thr Single submitter T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant ⚠
  • p.Pro162Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro185Arg Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro185Leu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro185Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro193Leu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro204Leu Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠
  • p.Pro204Ser Single submitter T-cell immunodeficiency, congenital alopecia, and nail dystrophy ⚠