ADAM17 — 611 ClinVar variants

All ClinVar germline ADAM17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 224 flagged for review →

15 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 4 Conflicting · 60 Benign · 10 Benign/Likely benign · 264 Likely benign · 248 Uncertain significance

Full ADAM17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 224

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 2

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

ADAM17 p.Phe14Leu Conflicting Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ile284Thr Conflicting No assertion criteria
inflammatory skin and bowel disease, neonatal, 1

Predictors lean, ClinVar uncertain 147

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

ADAM17 p.Ala742Thr Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ala806Pro Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Ala806Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Arg132Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Arg177His Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg813His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Arg816His Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Asn223Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Asp22Tyr Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp499Asn Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp505Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Asp654Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Asp657Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Cys693Tyr Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Glu192Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Glu445Lys Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Gly374Arg Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.His361Tyr Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Leu607Val Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Leu668Ser Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Lys197Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Met494Val Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Pro18Leu Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro218Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Pro356Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Pro799Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Ser504Gly Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser767Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Val12Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Val258Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Val55Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Val632Ile Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ala145Asp Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ala145Thr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ala732Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ala748Ser Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ala750Thr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ala751Pro Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg154Gly Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg202Lys Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Arg263Trp Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Arg473His Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg644Gln Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg725His Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg738Gly Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Arg738His Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg802Thr Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Asn191His Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asn359Ser Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Asn662Ser Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asn815Ser Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp124Glu Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Asp171Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp201Asn Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Asp443Asn Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp575His Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp616Asn Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp636Gly Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Cys365Gly Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Cys548Tyr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Cys573Tyr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Gln179Arg Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Gln179Lys Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Gln30Arg Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Gln763Arg Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Gln814His Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Gln92His Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Gln92Pro Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Glu243Lys Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Glu414Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Glu774Lys Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Glu804Gly Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Gly198Val Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Gly25Asp Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Gly27Asp Uncertain significance Single submitter
ADAM17 p.Gly571Asp Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Gly627Glu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Gly776Arg Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.His361Pro Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.His65Arg Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.His756Gln Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ile137Val Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Ile172Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ile378Asn Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ile378Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ile438Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ile493Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ile579Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ile762Phe Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Leu208Phe Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Leu32Phe Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Leu32Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Leu380Ser Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Leu5Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Leu69Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Leu795Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Lys160Glu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Lys162Gln Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Lys182Asn Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Lys188Glu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Lys222Asn Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Lys286Thr Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Lys315Gln Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Lys577Glu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Met221Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Met316Ile Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Met316Leu Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Met345Thr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Phe235Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Phe683Leu Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Phe730Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro13Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro20Arg Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro21Ser Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro24Ala Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro24Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro372Ala Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro425Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro558Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro629Leu Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Pro731Ala Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro731Ser Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro736Ala Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro743Ala Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser37Tyr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser504Arg Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Ser504Asn Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser546Phe Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser660Asn Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser711Thr Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Ser770Pro Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Thr108Asn Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Thr224Met Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Thr265Ser Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Thr768Ala Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Tyr107His Uncertain significance Single submitter
ADAM17 p.Tyr262Cys Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Tyr352Cys Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Tyr369Ser Uncertain significance Single submitter
ADAM17 p.Tyr495His Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Val175Ile Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Val175Leu Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Val373Asp Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Val434Ile Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Val545Ala Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Val566Phe Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Val800Phe Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1

Predictors split 75

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

ADAM17 p.Arg738Cys Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg813Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Asp100Val Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp699Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Asp797Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Gly101Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Ile458Val Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Leu16Val Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Lys315Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Phe655Leu Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser54Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Thr507Met Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Thr541Ala Uncertain significance Multiple submitters
Inborn genetic diseases
ADAM17 p.Tyr702Cys Uncertain significance Multiple submitters
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ala537Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ala74Thr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg177Cys Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg215Ile Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg283Cys Likely benign Single submitter
Anophthalmia-microphthalmia syndrome
ADAM17 p.Arg473Cys Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg610His Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg77Thr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Arg816Cys Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asn157Ser Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp113Glu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp134Ala Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp190Tyr Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Asp256Glu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp606Ala Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp794Asn Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Asp818His Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Glu106Lys Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Glu290Gly Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Glu327Gly Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Glu562Gly Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Glu562Lys Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Glu583Lys Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Glu585Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Gly511Ser Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Gly544Ala Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.His210Tyr Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.His444Arg Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.His65Tyr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ile149Thr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ile255Thr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ile325Met Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ile579Met Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Ile672Val Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Leu60Pro Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Lys523Thr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Lys533Asn Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Lys620Asn Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Lys640Ile Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Met164Ile Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Met239Val Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Phe623Leu Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Phe708Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Phe809Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Pro556Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser125Thr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser266Pro Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser481Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser48Phe Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser553Thr Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser723Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Ser73Leu Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Thr108Ile Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Thr796Met Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Tyr459Cys Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Val15Met Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Val373Gly Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Val402Ile Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Val615Gly Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1
ADAM17 p.Val97Ala Uncertain significance Single submitter
Inborn genetic diseases
ADAM17 p.Val97Met Uncertain significance Single submitter
inflammatory skin and bowel disease, neonatal, 1

All ADAM17 variants

Pathogenic 15

c.1975_1993+4del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.619+1del Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Arg211Ter Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asn103fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asn598fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Cys489_Asp490delinsTer Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Cys525fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gly383_Leu384insTer Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Met435fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser330fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser451Ter Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr339fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr549fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Tyr238Ter Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asp201fs No assertion criteria inflammatory skin and bowel disease, neonatal, 1

Pathogenic/Likely pathogenic 1

p.Arg651Ter Multiple submitters neonatal inflammatory skin and bowel disease

Likely pathogenic 9

c.1344+1G>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1344+1G>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1544+2T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.230+1G>A Single submitter Inborn genetic diseases
c.361+1G>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.843+1G>A Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Arg257fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Arg644Ter Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Glu150= Single submitter

Conflicting classifications of pathogenicity 4

c.1545-7_1545-5del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.362-11T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Phe14Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile284Thr No assertion criteria inflammatory skin and bowel disease, neonatal, 1 ⚠

Benign 60

c.1191+83T>A Multiple submitters
c.1192-91_1192-90insTTAT Multiple submitters
c.1345-295G>A Multiple submitters
c.1545-116G>A Multiple submitters
c.1545-73G>A Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.1649-26T>C Multiple submitters
c.1784-46C>T Multiple submitters
c.1915-146C>T Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.1994-22A>C Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.2082+52C>T Multiple submitters
c.2083-60A>G Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.2134-14C>T Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.619+164A>G Multiple submitters
c.844-330C>T Multiple submitters
c.844-5T>C Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.957+148A>G Multiple submitters
c.958-13del Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.958-34dup Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.-154C>A Multiple submitters
c.-172T>C Multiple submitters
c.*290A>G Multiple submitters
c.*61del Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.*75G>A Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Lys162Glu Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Ser608= Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Thr565= Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.1191+203T>C Single submitter
c.1191+233G>A Single submitter
c.1344+142T>C Single submitter
c.1345-138G>T Single submitter
c.1544+15C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1545-325C>T Single submitter
c.1783+158G>C Single submitter
c.1915-9del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1915-9dup Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2082+225A>G Single submitter
c.362-9dup Single submitter inflammatory skin and bowel disease, neonatal, 1
c.451-204_451-203del Single submitter
c.451-20G>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.619+116del Single submitter
c.620-152C>T Single submitter
c.754-293G>A Single submitter
c.844-144G>A Single submitter
c.957+244A>G Single submitter
c.957+249T>C Single submitter
c.957+252A>G Single submitter
c.957+260T>C Single submitter
c.957+265T>A Single submitter
c.957+274G>T Single submitter
c.957+278A>G Single submitter
c.957+284T>G Single submitter
c.958-14_958-13del Single submitter
c.958-15_958-13del Single submitter
c.958-16_958-13del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.97+15del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.98-282A>G Single submitter
c.98-408A>G Single submitter
p.Cys611= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Phe782= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Pro733= Single submitter inflammatory skin and bowel disease, neonatal, 1

Benign/Likely benign 10

c.2083-9del Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.2134-11T>C Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.958-25_958-13del Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Ala439= Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Ala748Val Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Arg202Gly Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Gly27= Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Ser747Leu Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Val673Ile Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Val691= Multiple submitters inflammatory skin and bowel disease, neonatal, 1

Likely benign 264

c.2134-23_2134-20del Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.231-14G>A Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.958-5C>A Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Ala145= Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Asp760= Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Cys548= Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.His78Asp Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Ile50Val Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Leu60Ile Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Pro491Ser Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Thr796= Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Tyr702= Multiple submitters inflammatory skin and bowel disease, neonatal, 1
c.1102+10T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1103-12T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1103-20_1103-19del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1103-20C>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1103-8G>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1191+19A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1191+20A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1191+7T>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1191+8_1191+20del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1191+8C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1192-12A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1192-14G>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1192-20T>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1192-5dup Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1192-6C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1192-7C>T Single submitter
c.1192-9A>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1344+12T>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1344+13C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1344+14G>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1345-6C>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1545-14C>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1545-7T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1649-17C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1649-3del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1649-4C>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1649-8G>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1783+13_1783+15del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1783+8del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1784-13T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1784-16G>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1784-17C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1784-19del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1784-20A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1784-4C>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1914+12T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1914+12T>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1914+13G>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1914+14T>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1914+19C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1914+8T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1915-15_1915-14insA Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1915-17_1915-14del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1915-21ATGT[3] Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1993+18A>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1994-8G>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2082+10C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2082+11A>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2082+12A>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2082+20G>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2083-12_2083-11del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2083-12G>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2083-18_2083-16del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2133+13T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2133+20G>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2133+7A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2133+8T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2133+9A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2134-12A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2134-27CAAT[3] Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2134-6T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.230+13A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.230+13A>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.230+17A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.230+9A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.361+13C>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.361+16G>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.361+17T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.361+19G>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.362-16T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.362-18T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.362-19A>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.362-19A>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.362-6C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.362-9del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.450+17A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.450+18T>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.450+7T>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.451-14A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.451-15T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.619+14A>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.619+19A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.619+7C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.620-17A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.620-5A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.753+12del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.753+14A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.753+17G>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.753+20T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.753+20T>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.754-20T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.754-21_754-20del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.754-4A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.754-6A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.843+10A>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.843+11A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.843+15A>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.843+18T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.843+19G>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.844-16A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.844-17_844-16delinsTT Single submitter inflammatory skin and bowel disease, neonatal, 1
c.844-4A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.844-6G>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.957+15C>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.958-13_958-12insTG Single submitter inflammatory skin and bowel disease, neonatal, 1
c.958-20T>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.958-23_958-13del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.958-24_958-13del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.958-26_958-13del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.958-8T>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.958-9C>T Single submitter
c.97+12G>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.97+17G>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.97+18T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.97+8C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ala301= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ala413= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ala617= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ala722= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ala732= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ala748= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Arg154= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Arg263= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Arg283Cys Single submitter Anophthalmia-microphthalmia syndrome ⚠
p.Arg58= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Arg610= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Arg738= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Arg89= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asn103= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asn269= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asn377= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asn381= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asn410= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asn498= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asn524= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asn712= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asp259= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asp344= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asp418= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asp428= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asp499= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asp636= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asp657= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asp670= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asp773= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Cys534= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Cys567= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Cys582= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gln289= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gln467= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gln471= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gln61= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gln92= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Glu146= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Glu290= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Glu328= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Glu468= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Glu510= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Glu585= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Glu589= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gly144= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gly25= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gly363= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gly492= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gly544= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gly559= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gly665= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.His118= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.His336= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.His361= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.His444= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.His709= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ile172= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ile438= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ile661= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu16= Single submitter
p.Leu285= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu401= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu47= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu60= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu677= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu681= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu69= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu70= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu705= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu707= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu754= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu81= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu83= Single submitter
p.Lys226= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Lys296= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Lys34= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Lys455= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Lys76= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Lys779= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Phe338= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Phe634= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Phe683= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Pro20= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Pro218= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Pro24= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Pro356= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Pro417= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Pro425= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Pro613= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Pro741= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Pro752= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Pro799= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser105= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser382= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser481= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser504= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser54= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser552= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser660= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser675= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser723= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser747= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser786= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser85= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser86= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr108= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr224= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr385= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr396= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr507= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr565= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr64= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr68= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr735= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr761= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr9= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Tyr107= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Tyr186= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Tyr370= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Tyr433= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Tyr459= Single submitter
p.Val12= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Val136= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Val15= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Val189= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Val291= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Val353= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Val434= Single submitter
p.Val55= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Val615= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Val673= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Val676= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Val713= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Val96= Single submitter inflammatory skin and bowel disease, neonatal, 1
c.958-9C>G No assertion criteria ADAM17-related disorder
p.Phe664= No assertion criteria ADAM17-related disorder

Uncertain significance 248

p.Ala742Thr Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ala806Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala806Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg132Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg177His Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg738Cys Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg813Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg813His Multiple submitters Inborn genetic diseases ⚠
p.Arg816His Multiple submitters Inborn genetic diseases ⚠
p.Asn223Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp100Val Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp22Tyr Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp499Asn Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp505Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp654Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp657Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp699Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp797fs Multiple submitters inflammatory skin and bowel disease, neonatal, 1
p.Asp797Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys693Tyr Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Glu192Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu445Lys Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Gly101Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly374Arg Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.His361Tyr Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile458Val Multiple submitters Inborn genetic diseases ⚠
p.Leu16Val Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Leu607Val Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Leu668Ser Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Lys197Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys315Arg Multiple submitters Inborn genetic diseases ⚠
p.Met494Val Multiple submitters Inborn genetic diseases ⚠
p.Phe655Leu Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro18Leu Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro218Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro356Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro799Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser504Gly Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser54Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser767Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr507Met Multiple submitters Inborn genetic diseases ⚠
p.Thr541Ala Multiple submitters Inborn genetic diseases ⚠
p.Tyr702Cys Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Val12Leu Multiple submitters Inborn genetic diseases ⚠
p.Val258Ala Multiple submitters Inborn genetic diseases ⚠
p.Val55Leu Multiple submitters Inborn genetic diseases ⚠
p.Val632Ile Multiple submitters inflammatory skin and bowel disease, neonatal, 1 ⚠
c.1344+6T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1345-3A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1648+4C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1914+3_1914+6del Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1914+5G>A Single submitter inflammatory skin and bowel disease, neonatal, 1
c.1993+4G>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.2082+4A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.230+4A>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.231-3C>T Single submitter inflammatory skin and bowel disease, neonatal, 1
c.451-5T>G Single submitter inflammatory skin and bowel disease, neonatal, 1
c.843+4T>C Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ala145Asp Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ala145Thr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ala537Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ala732Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ala748Ser Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ala74Thr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ala750Thr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ala751Pro Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ala806fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Arg154Gly Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg177Cys Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg202Lys Single submitter Inborn genetic diseases ⚠
p.Arg215Ile Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg263Trp Single submitter Inborn genetic diseases ⚠
p.Arg473Cys Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg473His Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg610His Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg644Gln Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg725fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Arg725His Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg738Gly Single submitter Inborn genetic diseases ⚠
p.Arg738His Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg77Thr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg802Thr Single submitter Inborn genetic diseases ⚠
p.Arg816Cys Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Arg816fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Asn157Ser Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asn191His Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asn359Ser Single submitter Inborn genetic diseases ⚠
p.Asn662Ser Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asn815Ser Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp113Glu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp124Glu Single submitter Inborn genetic diseases ⚠
p.Asp134Ala Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp171Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp190Tyr Single submitter Inborn genetic diseases ⚠
p.Asp201Asn Single submitter Inborn genetic diseases ⚠
p.Asp256Glu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp443Asn Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp575His Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp606Ala Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp616Asn Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp636Gly Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp794Asn Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Asp818His Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Cys365Gly Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Cys548Tyr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Cys573Tyr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Gln179Arg Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Gln179Lys Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Gln30Arg Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Gln740Pro Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gln763Arg Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Gln763fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gln763Ter Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Gln814His Single submitter Inborn genetic diseases ⚠
p.Gln92His Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Gln92Pro Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Glu106Lys Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Glu243Lys Single submitter Inborn genetic diseases ⚠
p.Glu290Gly Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Glu327Gly Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Glu414Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Glu562Gly Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Glu562Lys Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Glu583Lys Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Glu585Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Glu774Lys Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Glu804Gly Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Gly198Val Single submitter Inborn genetic diseases ⚠
p.Gly25Asp Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Gly27Asp Single submitter ⚠
p.Gly511Ser Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Gly544Ala Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Gly571Asp Single submitter Inborn genetic diseases ⚠
p.Gly627Glu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Gly776Arg Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.His210Tyr Single submitter Inborn genetic diseases ⚠
p.His361Pro Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.His444Arg Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.His65Arg Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.His65Tyr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.His756Gln Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile137Val Single submitter Inborn genetic diseases ⚠
p.Ile149Thr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile172Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile255Thr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile325Met Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile378Asn Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile378Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile438Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile493Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile579Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile579Met Single submitter Inborn genetic diseases ⚠
p.Ile672Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ile762Phe Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Leu208Phe Single submitter Inborn genetic diseases ⚠
p.Leu32Phe Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Leu32Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Leu380Ser Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Leu5Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Leu60Pro Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Leu69Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Leu705fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Leu795Val Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Lys160Glu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Lys162Gln Single submitter Inborn genetic diseases ⚠
p.Lys182Asn Single submitter Inborn genetic diseases ⚠
p.Lys188Glu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Lys222Asn Single submitter Inborn genetic diseases ⚠
p.Lys286Thr Single submitter Inborn genetic diseases ⚠
p.Lys315Gln Single submitter Inborn genetic diseases ⚠
p.Lys523Thr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Lys533Asn Single submitter Inborn genetic diseases ⚠
p.Lys577Glu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Lys620Asn Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Lys640Ile Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Met164Ile Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Met221Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Met239Val Single submitter Inborn genetic diseases ⚠
p.Met316Ile Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Met316Leu Single submitter Inborn genetic diseases ⚠
p.Met345Thr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Phe235Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Phe623Leu Single submitter Inborn genetic diseases ⚠
p.Phe683Leu Single submitter Inborn genetic diseases ⚠
p.Phe708Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Phe730Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Phe809Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro13Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro20Arg Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro21Ser Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro24Ala Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro24Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro372Ala Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro425Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro556Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro558Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro629Leu Single submitter Inborn genetic diseases ⚠
p.Pro731Ala Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro731Ser Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro736Ala Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Pro743Ala Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser125Thr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser266Pro Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser37Tyr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser481Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser48Phe Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser504Arg Single submitter Inborn genetic diseases ⚠
p.Ser504Asn Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser546Phe Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser553Thr Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser660Asn Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser711Thr Single submitter Inborn genetic diseases ⚠
p.Ser723Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser73Leu Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Ser747fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser770fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Ser770Pro Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Thr108Asn Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Thr108Ile Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Thr224Met Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Thr248del Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr265Ser Single submitter Inborn genetic diseases ⚠
p.Thr768Ala Single submitter Inborn genetic diseases ⚠
p.Thr796Met Single submitter Inborn genetic diseases ⚠
p.Thr822dup Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Thr822fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Tyr107His Single submitter ⚠
p.Tyr262Cys Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Tyr352Cys Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Tyr369Ser Single submitter ⚠
p.Tyr42= Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Tyr459Cys Single submitter Inborn genetic diseases ⚠
p.Tyr495His Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Val15Met Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Val175Ile Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Val175Leu Single submitter Inborn genetic diseases ⚠
p.Val373Asp Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Val373Gly Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Val402Ile Single submitter Inborn genetic diseases ⚠
p.Val434Ile Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Val545Ala Single submitter Inborn genetic diseases ⚠
p.Val566Phe Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Val615Gly Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Val724fs Single submitter inflammatory skin and bowel disease, neonatal, 1
p.Val800Phe Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠
p.Val817fs Single submitter Inborn genetic diseases
p.Val97Ala Single submitter Inborn genetic diseases ⚠
p.Val97Met Single submitter inflammatory skin and bowel disease, neonatal, 1 ⚠