Sugi Variant

Sugi Variant/ITCH

ITCH — 518 ClinVar variants

All ClinVar germline ITCH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 173 flagged for review →

12 Pathogenic · 7 Likely pathogenic · 9 Conflicting · 14 Benign · 6 Benign/Likely benign · 275 Likely benign · 195 Uncertain significance

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

⚑ Evidence disagreements 173

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 135

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 33

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

All ITCH variants

Pathogenic 12

  • p.Ile132fs Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Arg707Ter Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gln121Ter Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ile778fs Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu434fs Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Lys126fs Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Trp555Ter Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Trp65Ter Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Trp752Ter Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Tyr579Ter Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu652Ter No assertion criteria syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu202fs No assertion criteria syndromic multisystem autoimmune disease due to ITCH deficiency

Likely pathogenic 7

  • c.1099_1140+38dup Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1569+1G>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1952+3_1952+6del Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2214+1G>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.337+1G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu669fs Single submitter
  • p.Met1Ile Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency

Conflicting classifications of pathogenicity 9

  • c.1570-3del Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asn58Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asp181His Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Cys156Tyr Single submitter Inborn genetic diseases ⚠
  • p.Ile137Val Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Leu319= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu660= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Lys126Arg Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Met445Val Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency

Benign 14

Benign/Likely benign 6

  • c.1140+18T>A Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.679+20A>G Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gln382= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu718= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ile72= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ile757= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency

Likely benign 275

  • c.1569+16C>T Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2215-4A>G Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.475+3257G>T Multiple submitters
  • c.522-5C>T Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.679+11C>T Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-18T>G Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-20T>G Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-7G>T Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-8del Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asp835= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gln424= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro248= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro276= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro838= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ser136= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr155= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr344= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val47= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val76= Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1140+9C>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1141-11G>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1210+15T>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1210+17T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1211-10C>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1211-12C>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1211-12C>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1211-16C>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1211-19G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1295+17G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1295+18T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1295+19G>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1295+8T>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1296-11G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1296-15T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1296-4G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1296-5C>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1296-6dup Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1296-9G>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1424+16A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1425-12G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1425-13T>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1425-14T>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1497+11G>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1497+14C>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1497+15T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1497+15T>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1497+18A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1497+9_1497+19del Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1498-18G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1498-7A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1569+11A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1569+17T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1570-12del Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1570-13T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1570-9_1570-8insC Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1658+13T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1658+16A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1658+19C>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1658+8T>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1659-13C>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1659-8G>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1819-12_1819-11del Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1819-4A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1819-6T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1819-7T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1952+17A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1952+18T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1952+9C>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1952+9C>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1953-10A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1953-16A>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1953-16A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1953-17T>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1953-19G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2093+7G>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2094-13A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2094-15A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2094-5G>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.212+13G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.212+14T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.212+7T>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.213-11T>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.213-18C>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.213-18del Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.213-20C>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.213-8A>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2214+13C>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2214+15T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2215-17C>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2215-8C>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2215-9T>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2319+18T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2319+7T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2320-13A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2320-13A>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2320-15_2320-13del Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2320-20T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2320-9T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2417-12A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2417-7G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2489+10A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2489+14G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2489+16A>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2490-19T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.338-17A>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.338-4C>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.475+12C>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.475+15T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.475+3234_475+3235del Single submitter
  • c.475+3235del Single submitter
  • c.475+3320T>C Single submitter
  • c.475+3324T>C Single submitter
  • c.475+3343G>A Single submitter
  • c.475+3372C>G Single submitter
  • c.475+3378T>C Single submitter
  • c.476-10G>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.476-18T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.521+10C>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.521+15A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.521+9T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.522-12_522-11del Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.522-13T>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.522-14C>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.522-8T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.679+16C>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.679+19A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.680-20T>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.70+16A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.70+18C>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.70+19G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.70+19G>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.70+3385C>T Single submitter
  • c.71-16C>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.71-7T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.869+20A>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.870-14A>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.870-16T>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.870-16T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.965+10T>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.965+12A>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.965+16T>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.965+17A>T Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-10_966-9insTC Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-10T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-12T>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-15_966-14insC Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-19_966-18insG Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-4T>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-7_966-6del Single submitter
  • c.966-9C>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-9del Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.*19A>G Single submitter
  • p.Ala227= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ala586= Single submitter
  • p.Ala605= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ala607= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ala99= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Arg300= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Arg347= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Arg354= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Arg469= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Arg534= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Arg759= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asn110= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asn163= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asn255= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asn584= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asp164= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asp165= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asp171= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asp296= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asp3= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asp314= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asp328= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Asp337= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Cys814= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gln358= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gln433= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gln50= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gln67= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gln7= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu130= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu308= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu44= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu518= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu694= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu736= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu843= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gly179= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gly275= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gly299= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gly442= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gly684= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gly719= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gly799= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.His298= Single submitter
  • p.Ile333= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ile747= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ile778= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu142= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu20= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu279= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu287= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu29= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu536= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu559= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu620= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu787= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu796= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu804= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu824= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Leu849= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Lys437= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Lys612= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Lys668= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Lys680= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Lys776= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Lys78= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Lys848= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Phe415= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Phe720= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro233= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro249= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro278= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro281= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro286= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro39= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro398= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro400= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro453= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro453Ala Single submitter Inborn genetic diseases ⚠
  • p.Pro529= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro585= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro621= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro797= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro810= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro837= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ser13= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ser159= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ser195= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ser203= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ser237= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ser271= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ser352= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ser665= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr105= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr129Ala Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr244= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr311= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr312= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr343= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr349= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr448= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr463= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr464= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr515= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr616= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr70= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr791= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Thr829= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Tyr303= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Tyr42= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Tyr588= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val175= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val229= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val304= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val327= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val413= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val484= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val491= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val551= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val666= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val790= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Val818= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu847= No assertion criteria ITCH-related disorder

Uncertain significance 195

  • c.1952+6T>C Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.966-9C>G Multiple submitters
  • p.Arg192Ser Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Arg217Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg224Cys Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Arg763Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg82Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg82His Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn110Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn230Ser Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn410Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asn417Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Asp140Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Glu544del Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu694Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Gly575Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Ile270Val Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Leu558Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu786Arg Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Lys28Arg Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Lys782Arg Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Pro248Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro281Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser228Pro Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser239Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Tyr483Cys Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Val175Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val416Ile Multiple submitters ITCH-related disorder ⚠
  • p.Val73Ile Multiple submitters syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • c.1296-1486G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1569+3A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1569+6G>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.1953-3C>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2093+4A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.212+3A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.2416+3A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.337+4T>C Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.475+3238A>T Single submitter ⚠
  • c.679+1G>T Single submitter
  • c.679+7A>G Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • c.680-3T>A Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.251NT[2] Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.251NT[4] Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Ala235Val Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ala285Val Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ala586Thr Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ala605Pro Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Arg214Gly Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Arg224His Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Arg225Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg326Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg363His Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Arg412Gly Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Arg469Cys Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Arg534Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg535His Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Arg553= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Arg598Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg625Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg707Gln Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Arg759Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg82Cys Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Arg833His Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn109Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn151Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn178Lys Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn204Asp Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn280Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn35Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn374Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn374Lys Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn459Asp Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn645Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn682Asp Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn685Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn685Ser Single submitter ITCH-related disorder ⚠
  • p.Asn721Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn808Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asn822Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asp134His Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asp165Glu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asp240Glu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asp314Val Single submitter ⚠
  • p.Asp328Gly Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Asp427Asn Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Cys57Trp Single submitter ⚠
  • p.Gln143Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gln362Arg Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gln367Arg Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gln372His Single submitter ⚠
  • p.Gln389His Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gln433Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln730His Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gln861Ter Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Glu44Gly Single submitter ⚠
  • p.Glu661Asp Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gly12Asp Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gly166Arg Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gly166Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gly187Val Single submitter Inborn genetic diseases ⚠
  • p.Gly189Val Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gly231Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly299Arg Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gly322= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Gly331Arg Single submitter Inborn genetic diseases ⚠
  • p.Gly432Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gly5Arg Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Gly9Arg Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.His338Arg Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.His80Arg Single submitter Inborn genetic diseases ⚠
  • p.His80Tyr Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ile102Thr Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ile378Val Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ile524Val Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ile639Val Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ile655Val Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ile697Val Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ile747Thr Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ile778Val Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Leu113Phe Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Leu350Pro Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Leu434Val Single submitter Inborn genetic diseases ⚠
  • p.Leu636Val Single submitter
  • p.Leu69Phe Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Leu845Met Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Lys112= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Lys17Thr Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Lys472Ile Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Lys576Glu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Lys634Thr Single submitter Inborn genetic diseases
  • p.Lys735Gln Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Lys817Asn Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Met11Ile Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Met445Ile Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Met503Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe527= Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Phe556Val Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Phe571Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Phe603Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Phe717Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Pro213Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Pro215Thr Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro218Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Pro226Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro249Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Pro318Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro318Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Pro395His Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Pro438Arg Single submitter Inborn genetic diseases
  • p.Pro453Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Pro585Ala Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Pro585His Single submitter Inborn genetic diseases ⚠
  • p.Pro630Arg Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Pro641Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro68Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser108Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser10Thr Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser13Thr Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser201Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser232Ala Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser243Gly Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser262Tyr Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser2Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser388Pro Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser390Asn Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser473Pro Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser4Asn Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser4Gly Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Ser6Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Thr129Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Thr177Ser Single submitter Inborn genetic diseases ⚠
  • p.Thr244Ile Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Thr254Lys Single submitter Inborn genetic diseases ⚠
  • p.Thr342Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Thr343Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr420Ile Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Thr448Ile Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Thr462Ser Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Thr512Ile Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Trp36Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency
  • p.Trp65Arg Single submitter Inborn genetic diseases ⚠
  • p.Tyr303Cys Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Tyr356Cys Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Tyr623Cys Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Val117Ala Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Val118Met Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Val194Asp Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Val229Ile Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Val282Ile Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Val353Ile Single submitter Inborn genetic diseases ⚠
  • p.Val43Ile Single submitter Inborn genetic diseases ⚠
  • p.Val43Leu Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Val798Ala Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠
  • p.Val818Ala Single submitter Inborn genetic diseases ⚠
  • p.Val818Ile Single submitter syndromic multisystem autoimmune disease due to ITCH deficiency ⚠