TTC7A — 1147 ClinVar variants

All ClinVar germline TTC7A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 434 flagged for review →

44 Pathogenic · 17 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 35 Conflicting · 97 Benign · 23 Benign/Likely benign · 444 Likely benign · 454 Uncertain significance

Full TTC7A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 434

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

Predictors vs ClinVar 1

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

TTC7A p.Arg523Lys Likely pathogenic Single submitter
TTC7A-related disorder

Predictors agree, ClinVar conflicts 29

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

TTC7A p.Ala380Thr Conflicting Single submitter
multiple intestinal atresia
TTC7A p.Ala524Ser Conflicting Single submitter
Inborn genetic diseases
TTC7A p.Ala815Val Conflicting Single submitter
Inborn genetic diseases
TTC7A p.Ala832Val Conflicting Single submitter
multiple intestinal atresia
TTC7A p.Arg146Leu Conflicting Single submitter
gastrointestinal defects and immunodeficiency syndrome 1
TTC7A p.Arg265Trp Conflicting Single submitter
gastrointestinal defects and immunodeficiency syndrome 1
TTC7A p.Arg325Gln Conflicting Single submitter
gastrointestinal defects and immunodeficiency syndrome 1
TTC7A p.Arg515Trp Conflicting Single submitter
multiple intestinal atresia
TTC7A p.Arg753Gln Conflicting Single submitter
multiple intestinal atresia
TTC7A p.Asp63Glu Conflicting Single submitter
multiple intestinal atresia
TTC7A p.Gln828His Conflicting Single submitter
gastrointestinal defects and immunodeficiency syndrome 1
TTC7A p.Gly483Arg Conflicting Single submitter
multiple intestinal atresia
TTC7A p.His596Tyr Conflicting Single submitter
Inborn genetic diseases
TTC7A p.Ile535Phe Conflicting Single submitter
multiple intestinal atresia
TTC7A p.Leu110Val Conflicting Single submitter
Inborn genetic diseases
TTC7A p.Leu478Pro Conflicting Single submitter
gastrointestinal defects and immunodeficiency syndrome 1
TTC7A p.Lys606Arg Conflicting Single submitter
gastrointestinal defects and immunodeficiency syndrome 1
TTC7A p.Met143Val Conflicting Single submitter
Inborn genetic diseases
TTC7A p.Met694Val Conflicting Single submitter
multiple intestinal atresia
TTC7A p.Pro59Arg Conflicting Single submitter
multiple intestinal atresia
TTC7A p.Ser116Leu Conflicting Single submitter
multiple intestinal atresia
TTC7A p.Ser446Leu Conflicting Single submitter
multiple intestinal atresia
TTC7A p.Ser672Phe Conflicting Single submitter
Inborn genetic diseases
TTC7A p.Ser672Pro Conflicting Single submitter
gastrointestinal defects and immunodeficiency syndrome 1
TTC7A p.Thr357Ser Conflicting Single submitter
Inborn genetic diseases
TTC7A p.Tyr749Cys Conflicting Single submitter
Inborn genetic diseases
TTC7A p.Val365Met Conflicting Single submitter
multiple intestinal atresia
TTC7A p.Val397Ile Conflicting Single submitter
Inborn genetic diseases
TTC7A p.Val545Ile Conflicting Single submitter
multiple intestinal atresia

Predictors lean, ClinVar uncertain 335

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 335

TTC7A p.Ala145Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Ala247Thr Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ala283Val Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ala320Thr Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ala455Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Ala455Val Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ala528Val Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ala551Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Ala568Thr Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ala682Thr Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ala70Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Ala815Ser Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ala839Thr Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ala83Asp Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Arg138Gln Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Arg21Gly Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Arg265Gln Uncertain significance Multiple submitters
gastrointestinal defects and immunodeficiency syndrome 1
TTC7A p.Arg269Gln Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Arg325Trp Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Arg358Gln Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Arg405Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Arg48Gly Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Arg515Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Arg684Trp Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Arg751Gln Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Arg780Cys Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Arg791Gln Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Arg803Cys Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Arg803His Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Asp503Glu Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Cys20Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Cys812Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Gln526Arg Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Gln547Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Gln809Arg Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Glu18Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Glu617Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Glu821Ala Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Glu830Lys Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Gly24Ala Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Gly65Ala Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Gly759Ser Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.His112Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.His225Leu Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.His567Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Ile342Met Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ile476Val Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Leu159Pro Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Leu165Val Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Leu92Pro Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Lys339Arg Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Lys339Glu Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Lys728Arg Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Lys758Asn Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Lys94Gln Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Met355Val Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Met660Leu Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Met689Ile Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Met89Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Phe311Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Pro231Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Pro327Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Pro366Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Pro52Ser Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Pro742Arg Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Pro855Arg Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ser15Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Ser166Leu Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ser223Leu Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ser400Leu Uncertain significance Multiple submitters
gastrointestinal defects and immunodeficiency syndrome 1
TTC7A p.Ser845Gly Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ser88Pro Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Thr217Asn Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Thr222Met Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Thr276Ser Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Thr449Ala Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Thr653Ala Uncertain significance Multiple submitters
gastrointestinal defects and immunodeficiency syndrome 1
TTC7A p.Thr708Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Thr709Met Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Tyr300Cys Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Tyr537Cys Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Val133Met Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Val397Asp Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Val534Ile Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Val607Met Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Val621Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Ala145Ser Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala168Gly Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala22Thr Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Ala323Val Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala381Thr Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala410Thr Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala433Thr Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Ala455Ser Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala472Pro Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala517Thr Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala524Asp Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala55Ser Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Ala55Thr Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala55Val Uncertain significance Single submitter
TTC7A p.Ala568Ser Uncertain significance Single submitter
TTC7A p.Ala585Asp Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Ala585Val Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Ala667Val Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala677Ser Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala717Pro Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Ala72Thr Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Ala730Gly Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala737Val Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala738Val Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala771Val Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala83Gly Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ala844Val Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Arg163Gln Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg163Leu Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg163Trp Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg21Cys Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg224Lys Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Arg34Gln Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg438Gln Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg444Gln Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg463His Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg562Cys Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg562His Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Arg562Leu Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Arg628Ser Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Arg675Gln Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Arg675Leu Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg675Trp Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg676Gln Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg684Gln Uncertain significance Single submitter
TTC7A p.Arg780His Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg803Leu Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg808Met Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Asn156Lys Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Asn341His Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Asn47Lys Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Asn590Ser Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Asn601Asp Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Asn601Lys Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Asn601Thr Uncertain significance Single submitter
TTC7A p.Asp150Glu Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Asp151Gly Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Asp359Asn Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Asp384Val Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Asp511Gly Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Asp564Asn Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Asp60Glu Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Asp777Asn Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Asp834Asn Uncertain significance Single submitter
multiple intestinal atresia

Predictors split 69

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

TTC7A p.Ala247Pro Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Ala288Val Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Arg138Pro Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Arg146Trp Uncertain significance Multiple submitters
gastrointestinal defects and immunodeficiency syndrome 1
TTC7A p.Arg444Pro Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Arg753Trp Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Asn251Ile Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Asn775Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Glu353Lys Uncertain significance Multiple submitters
volvulus of midgut
TTC7A p.Glu686Val Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Gly332Glu Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Leu11Pro Uncertain significance Multiple submitters
TTC7A-related disorder
TTC7A p.Leu348Val Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Met750Ile Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Phe279Leu Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Pro338Ala Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Pro97Leu Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ser477Cys Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Tyr383Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TTC7A p.Val806Met Uncertain significance Multiple submitters
multiple intestinal atresia
TTC7A p.Ala433Ser Uncertain significance Single submitter
TTC7A p.Ala468Thr Uncertain significance Single submitter
TTC7A p.Ala543Val Uncertain significance Single submitter
TTC7A p.Arg269Trp Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg358Gly Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg364Trp Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg372Gln Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Arg438Trp Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Arg444Trp Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg463Cys Uncertain significance Single submitter
TTC7A p.Arg751Trp Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Arg856Gly Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Asn378Tyr Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Asp139Gly Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Asp27Tyr Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Asp340Glu Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Asp834Tyr Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Cys458Tyr Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Gln526Pro Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Glu16Lys Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Glu404Ala Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Glu439Asp Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Glu439Lys Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Glu821Lys Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Gly489Asp Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Gly827Asp Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.His293Pro Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.His794Pro Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Leu295Pro Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Leu346Phe Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Leu69Pro Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Leu720Val Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Leu761Pro Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Lys280Glu Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Lys4Asn Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Met261Thr Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Met398Ile Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Phe721Leu Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Pro529Leu Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Ser296Arg Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ser375Arg Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ser498Thr Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ser696Cys Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Ser845Asn Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Thr838Ala Uncertain significance Single submitter
Inborn genetic diseases
TTC7A p.Trp464Arg Uncertain significance Single submitter
TTC7A p.Tyr330Cys Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Val267Glu Uncertain significance Single submitter
multiple intestinal atresia
TTC7A p.Val779Met Uncertain significance Single submitter
multiple intestinal atresia

All TTC7A variants

Pathogenic 44

c.1001+3_1001+6del Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Asn104_Tyr105insTer Multiple submitters multiple intestinal atresia
p.Cys623Ter Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Gln395fs Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Gln526Ter Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Glu96Ter Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
c.1204-2A>G Single submitter multiple intestinal atresia
c.1802+2T>G Single submitter gastrointestinal defects and immunodeficiency syndrome 1
c.1919+1G>A Single submitter gastrointestinal defects and immunodeficiency syndrome 1
c.1919+2dup Single submitter
c.844-1G>T Single submitter multiple intestinal atresia
p.Ala558fs Single submitter
p.Ala755fs Single submitter multiple intestinal atresia
p.Arg546Ter Single submitter gastrointestinal defects and immunodeficiency syndrome 1
p.Asp340fs Single submitter multiple intestinal atresia
p.Gln118Ter Single submitter multiple intestinal atresia
p.Gln500Ter Single submitter multiple intestinal atresia
p.Gln510Ter Single submitter multiple intestinal atresia
p.Gln579Ter Single submitter multiple intestinal atresia
p.Gln611Ter Single submitter multiple intestinal atresia
p.Gln76Ter Single submitter multiple intestinal atresia
p.Gln824Ter Single submitter multiple intestinal atresia
p.Glu167Ter Single submitter multiple intestinal atresia
p.Glu484Ter Single submitter multiple intestinal atresia
p.Glu595fs Single submitter multiple intestinal atresia
p.Glu595Ter Single submitter multiple intestinal atresia
p.Gly428fs Single submitter multiple intestinal atresia
p.Leu347fs Single submitter multiple intestinal atresia
p.Leu819_Gly827del Single submitter multiple intestinal atresia
p.Lys339fs Single submitter multiple intestinal atresia
p.Lys758Ter Single submitter multiple intestinal atresia
p.Lys94Ter Single submitter multiple intestinal atresia
p.Met453fs Single submitter multiple intestinal atresia
p.Met704fs Single submitter multiple intestinal atresia
p.Pro59fs Single submitter multiple intestinal atresia
p.Ser697Ter Single submitter
p.Trp26fs Single submitter
p.Tyr396Ter Single submitter multiple intestinal atresia
c.1510+105T>A No assertion criteria gastrointestinal defects and immunodeficiency syndrome 1
c.764+1del No assertion criteria gastrointestinal defects and immunodeficiency syndrome 1
p.Gln277Ter No assertion criteria gastrointestinal defects and immunodeficiency syndrome 1
p.Gly494fs No assertion criteria gastrointestinal defects and immunodeficiency syndrome 1
p.Leu559fs No assertion criteria gastrointestinal defects and immunodeficiency syndrome 1
p.Tyr336Ter No assertion criteria gastrointestinal defects and immunodeficiency syndrome 1

Pathogenic/Likely pathogenic 17

c.1288-1G>T Multiple submitters multiple intestinal atresia
c.2018-1G>C Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Arg138Ter Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Arg358Ter Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Arg405Ter Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Gln541Ter Multiple submitters TTC7A-related disorder
p.Gln716Ter Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Gln799Ter Multiple submitters multiple intestinal atresia
p.Glu686_Glu687delinsTer Multiple submitters severe combined immunodeficiency
p.Glu71Lys Multiple submitters gastrointestinal defect and immunodeficiency syndrome
p.Leu304fs Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Leu544fs Multiple submitters gastrointestinal defect and immunodeficiency syndrome
p.Leu823Pro Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Phe64fs Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Trp301Ter Multiple submitters multiple intestinal atresia
p.Trp417Ter Multiple submitters multiple intestinal atresia
p.Val441fs Multiple submitters gastrointestinal defect and immunodeficiency syndrome

Likely pathogenic 33

c.1641+1G>A Multiple submitters gastrointestinal defect and immunodeficiency syndrome
c.1066-2A>T Single submitter gastrointestinal defects and immunodeficiency syndrome 1
c.1287+1del Single submitter multiple intestinal atresia
c.1510+2T>C Single submitter multiple intestinal atresia
c.184+2T>A Single submitter TTC7A-related disorder
c.184+2T>C Single submitter TTC7A-related disorder
c.1919+1G>C Single submitter multiple intestinal atresia
c.2152+1G>A Single submitter gastrointestinal defects and immunodeficiency syndrome 1
c.2152+1G>T Single submitter multiple intestinal atresia
c.2355+5G>A Single submitter gastrointestinal defects and immunodeficiency syndrome 1
c.517+1G>A Single submitter gastrointestinal defects and immunodeficiency syndrome 1
c.517+1G>C Single submitter multiple intestinal atresia
c.764+1G>A Single submitter multiple intestinal atresia
c.764+1G>T Single submitter multiple intestinal atresia
c.764+5G>A Single submitter multiple intestinal atresia
p.Ala3fs Single submitter gastrointestinal defect and immunodeficiency syndrome
p.Ala798Val Single submitter gastrointestinal defects and immunodeficiency syndrome 1
p.Ala832Thr Single submitter gastrointestinal defects and immunodeficiency syndrome 1
p.Arg523Lys Single submitter TTC7A-related disorder ⚠
p.Arg803Pro Single submitter TTC7A-related disorder
p.Asn47Ter Single submitter severe combined immunodeficiency
p.Gln826Ter Single submitter TTC7A-related disorder
p.Leu106fs Single submitter TTC7A-related disorder
p.Leu527Pro Single submitter
p.Leu586fs Single submitter TTC7A-related disorder
p.Leu785Pro Single submitter
p.Lys94fs Single submitter gastrointestinal defect and immunodeficiency syndrome
p.Phe721fs Single submitter gastrointestinal defects and immunodeficiency syndrome 1
p.Ser790fs Single submitter multiple intestinal atresia
p.Ser796fs Single submitter multiple intestinal atresia
p.Tyr160Ter Single submitter gastrointestinal defects and immunodeficiency syndrome 1
p.Val626fs Single submitter TTC7A-related disorder
p.Tyr537fs No assertion criteria TTC7A-related disorder

Conflicting classifications of pathogenicity 35

c.1203+4C>T Single submitter multiple intestinal atresia
c.1642-15G>A Single submitter multiple intestinal atresia
c.1802+3G>C Single submitter multiple intestinal atresia
p.Ala380Thr Single submitter multiple intestinal atresia ⚠
p.Ala524Ser Single submitter Inborn genetic diseases ⚠
p.Ala815Val Single submitter Inborn genetic diseases ⚠
p.Ala832Val Single submitter multiple intestinal atresia ⚠
p.Arg146Leu Single submitter gastrointestinal defects and immunodeficiency syndrome 1 ⚠
p.Arg265Trp Single submitter gastrointestinal defects and immunodeficiency syndrome 1 ⚠
p.Arg325Gln Single submitter gastrointestinal defects and immunodeficiency syndrome 1 ⚠
p.Arg515Trp Single submitter multiple intestinal atresia ⚠
p.Arg753Gln Single submitter multiple intestinal atresia ⚠
p.Asp63Glu Single submitter multiple intestinal atresia ⚠
p.Gln824fs Single submitter multiple intestinal atresia
p.Gln828His Single submitter gastrointestinal defects and immunodeficiency syndrome 1 ⚠
p.Gly483Arg Single submitter multiple intestinal atresia ⚠
p.His596Tyr Single submitter Inborn genetic diseases ⚠
p.Ile535Phe Single submitter multiple intestinal atresia ⚠
p.Leu110Val Single submitter Inborn genetic diseases ⚠
p.Leu478Pro Single submitter gastrointestinal defects and immunodeficiency syndrome 1 ⚠
p.Lys606Arg Single submitter gastrointestinal defects and immunodeficiency syndrome 1 ⚠
p.Met143Val Single submitter Inborn genetic diseases ⚠
p.Met694Val Single submitter multiple intestinal atresia ⚠
p.Pro59Arg Single submitter multiple intestinal atresia ⚠
p.Ser116Leu Single submitter multiple intestinal atresia ⚠
p.Ser15Phe Single submitter
p.Ser446Leu Single submitter multiple intestinal atresia ⚠
p.Ser672Phe Single submitter Inborn genetic diseases ⚠
p.Ser672Pro Single submitter gastrointestinal defects and immunodeficiency syndrome 1 ⚠
p.Thr357Ser Single submitter Inborn genetic diseases ⚠
p.Tyr336= Single submitter
p.Tyr749Cys Single submitter Inborn genetic diseases ⚠
p.Val365Met Single submitter multiple intestinal atresia ⚠
p.Val397Ile Single submitter Inborn genetic diseases ⚠
p.Val545Ile Single submitter multiple intestinal atresia ⚠

Benign 97

c.1001+40A>G Multiple submitters
c.1002-274T>C Multiple submitters
c.1002-39G>T Multiple submitters
c.1066-133G>T Multiple submitters
c.1066-13G>A Multiple submitters multiple intestinal atresia
c.1204-31T>C Multiple submitters
c.1204-58G>A Multiple submitters
c.1204-60G>T Multiple submitters
c.1392+57C>T Multiple submitters
c.1393-167A>C Multiple submitters
c.1393-168A>G Multiple submitters
c.1510+121A>G Multiple submitters
c.1511-68T>C Multiple submitters
c.1568+215A>G Multiple submitters
c.1641+12G>C Multiple submitters multiple intestinal atresia
c.1641+136T>C Multiple submitters
c.1641+194C>T Multiple submitters
c.1641+200T>C Multiple submitters
c.1641+57G>T Multiple submitters
c.1642-66C>T Multiple submitters
c.1802+68A>C Multiple submitters
c.1802+95A>G Multiple submitters
c.184+139C>T Multiple submitters
c.184+235A>C Multiple submitters
c.184+28G>C Multiple submitters
c.1919+1001C>T Multiple submitters
c.1919+162G>A Multiple submitters
c.1919+82G>T Multiple submitters
c.1919+98G>A Multiple submitters
c.1920-45C>G Multiple submitters
c.1920-53C>T Multiple submitters
c.2017+101G>A Multiple submitters
c.2017+133C>T Multiple submitters
c.2017+213C>T Multiple submitters
c.2017+22C>A Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
c.2017+23A>G Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
c.2018-62C>T Multiple submitters
c.2018-99G>T Multiple submitters
c.348+122G>T Multiple submitters
c.765-175T>A Multiple submitters
c.765-248C>T Multiple submitters
c.765-304T>G Multiple submitters
c.82+116T>C Multiple submitters
c.82+213A>G Multiple submitters
c.844-119C>T Multiple submitters
c.-12-120C>G Multiple submitters
c.-12-153A>C Multiple submitters
c.-84C>A Multiple submitters
p.Glu266= Multiple submitters multiple intestinal atresia
p.Ile734= Multiple submitters multiple intestinal atresia
p.Leu620= Multiple submitters multiple intestinal atresia
p.Ser100= Multiple submitters multiple intestinal atresia
p.Ser53Thr Multiple submitters multiple intestinal atresia
p.Ser678= Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Val290= Multiple submitters multiple intestinal atresia
p.Val538Leu Multiple submitters multiple intestinal atresia
p.Val848= Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
c.1001+231A>G Single submitter
c.1001+275T>C Single submitter
c.1065+3553C>T Single submitter
c.1066-474G>A Single submitter
c.1203+132del Single submitter
c.1203+133_1203+134insACTTGACC Single submitter
c.1204-9C>T Single submitter multiple intestinal atresia
c.1288-216G>A Single submitter
c.1393-256C>T Single submitter
c.1393-274T>C Single submitter
c.1393-275A>G Single submitter
c.1510+177C>T Single submitter
c.1569-301A>G Single submitter
c.1641+227G>A Single submitter
c.1641+229C>G Single submitter
c.1641+279A>C Single submitter
c.1641+280C>T Single submitter
c.1642-305G>A Single submitter
c.1802+279G>C Single submitter
c.185-4dup Single submitter multiple intestinal atresia
c.1920-131C>A Single submitter
c.2017+337C>T Single submitter
c.2017+371A>T Single submitter
c.2018-275C>T Single submitter
c.2153-101C>A Single submitter
c.2355+202C>G Single submitter
c.2355+291G>C Single submitter
c.348+12G>A Single submitter multiple intestinal atresia
c.517+301C>T Single submitter
c.649-226_649-217dup Single submitter
c.649-228_649-217dup Single submitter
c.765-140dup Single submitter
c.83-9516T>C Single submitter
c.843+117G>A Single submitter
c.843+173G>A Single submitter
c.844-281A>C Single submitter
c.844-299G>C Single submitter
c.844-303C>T Single submitter
c.-13+273G>A Single submitter
p.Leu32Val Single submitter multiple intestinal atresia

Benign/Likely benign 23

c.1203+13A>G Multiple submitters multiple intestinal atresia
c.1569-18C>T Multiple submitters multiple intestinal atresia
c.1641+17C>T Multiple submitters multiple intestinal atresia
c.1919+11G>C Multiple submitters multiple intestinal atresia
c.1919+873G>T Multiple submitters
c.2018-19G>T Multiple submitters multiple intestinal atresia
c.2152+20T>C Multiple submitters multiple intestinal atresia
c.517+11G>A Multiple submitters multiple intestinal atresia
c.649-10C>T Multiple submitters multiple intestinal atresia
p.Ala737= Multiple submitters multiple intestinal atresia
p.Ala815= Multiple submitters multiple intestinal atresia
p.Arg146Gln Multiple submitters multiple intestinal atresia
p.Gln377Glu Multiple submitters multiple intestinal atresia
p.Gln724Lys Multiple submitters multiple intestinal atresia
p.Gln799= Multiple submitters multiple intestinal atresia
p.Glu687Asp Multiple submitters multiple intestinal atresia
p.Gly818= Multiple submitters multiple intestinal atresia
p.Gly820= Multiple submitters multiple intestinal atresia
p.Ile342= Multiple submitters multiple intestinal atresia
p.Pro695= Multiple submitters multiple intestinal atresia
p.Ser539= Multiple submitters multiple intestinal atresia
p.Val365= Multiple submitters multiple intestinal atresia
p.Val450Met Multiple submitters multiple intestinal atresia

Likely benign 444

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

c.1001+9T>C Multiple submitters multiple intestinal atresia
c.1203+9G>A Multiple submitters multiple intestinal atresia
c.1288-87C>A Multiple submitters
c.1393-10_1393-8del Multiple submitters multiple intestinal atresia
c.1510+10A>G Multiple submitters multiple intestinal atresia
c.1511-18C>G Multiple submitters multiple intestinal atresia
c.1568+9G>A Multiple submitters multiple intestinal atresia
c.1569-4A>G Multiple submitters multiple intestinal atresia
c.1641+12G>A Multiple submitters multiple intestinal atresia
c.1803-11C>T Multiple submitters multiple intestinal atresia
c.185-14A>G Multiple submitters multiple intestinal atresia
c.1919+10C>T Multiple submitters multiple intestinal atresia
c.1919+13C>T Multiple submitters multiple intestinal atresia
c.1919+154A>G Multiple submitters
c.2356-9C>T Multiple submitters multiple intestinal atresia
c.348+17C>T Multiple submitters multiple intestinal atresia
c.348+9T>C Multiple submitters multiple intestinal atresia
c.649-11T>C Multiple submitters multiple intestinal atresia
c.764+16T>C Multiple submitters multiple intestinal atresia
c.765-13G>A Multiple submitters multiple intestinal atresia
p.Ala288= Multiple submitters multiple intestinal atresia
p.Ala323= Multiple submitters multiple intestinal atresia
p.Ala379= Multiple submitters multiple intestinal atresia
p.Ala410= Multiple submitters multiple intestinal atresia
p.Ala528= Multiple submitters multiple intestinal atresia
p.Ala681= Multiple submitters multiple intestinal atresia
p.Ala805= Multiple submitters multiple intestinal atresia
p.Ala832= Multiple submitters multiple intestinal atresia
p.Ala839= Multiple submitters multiple intestinal atresia
p.Asp151= Multiple submitters multiple intestinal atresia
p.Asp27= Multiple submitters multiple intestinal atresia
p.Glu841= Multiple submitters multiple intestinal atresia
p.Gly44= Multiple submitters multiple intestinal atresia
p.Gly483= Multiple submitters multiple intestinal atresia
p.His567= Multiple submitters multiple intestinal atresia
p.His7= Multiple submitters multiple intestinal atresia
p.His813= Multiple submitters multiple intestinal atresia
p.Ile680= Multiple submitters multiple intestinal atresia
p.Ile853= Multiple submitters multiple intestinal atresia
p.Leu20= Multiple submitters
p.Leu291= Multiple submitters multiple intestinal atresia
p.Leu390= Multiple submitters multiple intestinal atresia
p.Leu422= Multiple submitters multiple intestinal atresia
p.Leu544= Multiple submitters multiple intestinal atresia
p.Lys563= Multiple submitters multiple intestinal atresia
p.Phe319= Multiple submitters multiple intestinal atresia
p.Pro850= Multiple submitters multiple intestinal atresia
p.Ser136= Multiple submitters multiple intestinal atresia
p.Ser352= Multiple submitters multiple intestinal atresia
p.Ser375= Multiple submitters multiple intestinal atresia
p.Ser796= Multiple submitters multiple intestinal atresia
p.Ser9= Multiple submitters multiple intestinal atresia
p.Tyr132= Multiple submitters multiple intestinal atresia
p.Tyr144= Multiple submitters multiple intestinal atresia
p.Tyr300= Multiple submitters multiple intestinal atresia
p.Val747= Multiple submitters multiple intestinal atresia
c.1001+12C>T Single submitter multiple intestinal atresia
c.1001+14G>T Single submitter multiple intestinal atresia
c.1001+15C>A Single submitter multiple intestinal atresia
c.1001+16C>T Single submitter multiple intestinal atresia
c.1001+19G>C Single submitter multiple intestinal atresia
c.1001+20C>G Single submitter multiple intestinal atresia
c.1001+20C>T Single submitter multiple intestinal atresia
c.1002-11G>C Single submitter multiple intestinal atresia
c.1002-12G>C Single submitter multiple intestinal atresia
c.1002-15A>G Single submitter
c.1002-16C>G Single submitter multiple intestinal atresia
c.1002-16C>T Single submitter multiple intestinal atresia
c.1065+18C>T Single submitter multiple intestinal atresia
c.1065+8C>T Single submitter multiple intestinal atresia
c.1066-18_1066-15del Single submitter multiple intestinal atresia
c.1066-8A>G Single submitter multiple intestinal atresia
c.1203+10G>T Single submitter multiple intestinal atresia
c.1203+17_1203+23del Single submitter multiple intestinal atresia
c.1203+8C>G Single submitter multiple intestinal atresia
c.1204-11C>A Single submitter multiple intestinal atresia
c.1204-13C>A Single submitter multiple intestinal atresia
c.1204-13C>G Single submitter multiple intestinal atresia
c.1204-14T>G Single submitter multiple intestinal atresia
c.1204-15A>G Single submitter multiple intestinal atresia
c.1204-15dup Single submitter multiple intestinal atresia
c.1204-4C>T Single submitter multiple intestinal atresia
c.1204-6C>G Single submitter multiple intestinal atresia
c.1287+10A>T Single submitter multiple intestinal atresia
c.1287+17G>A Single submitter multiple intestinal atresia
c.1287+17G>T Single submitter multiple intestinal atresia
c.1287+19T>C Single submitter
c.1287+9C>T Single submitter multiple intestinal atresia
c.1288-13T>C Single submitter multiple intestinal atresia
c.1288-19C>T Single submitter multiple intestinal atresia
c.1288-20C>G Single submitter multiple intestinal atresia
c.1288-20C>T Single submitter multiple intestinal atresia
c.1288-242C>T Single submitter
c.1288-4G>A Single submitter multiple intestinal atresia
c.1288-7T>C Single submitter multiple intestinal atresia
c.1392+12G>T Single submitter multiple intestinal atresia
c.1392+14G>T Single submitter multiple intestinal atresia
c.1392+16G>C Single submitter multiple intestinal atresia
c.1392+17G>A Single submitter multiple intestinal atresia
c.1392+7G>A Single submitter multiple intestinal atresia
c.1392+7G>C Single submitter multiple intestinal atresia
c.1392+9G>T Single submitter multiple intestinal atresia
c.1393-10C>T Single submitter multiple intestinal atresia
c.1393-13C>G Single submitter multiple intestinal atresia
c.1393-15C>G Single submitter multiple intestinal atresia
c.1393-16TC[2] Single submitter multiple intestinal atresia
c.1393-17G>A Single submitter multiple intestinal atresia
c.1393-17G>T Single submitter multiple intestinal atresia
c.1393-19C>T Single submitter
c.1393-299C>G Single submitter
c.1393-4G>A Single submitter multiple intestinal atresia
c.1393-4G>C Single submitter multiple intestinal atresia
c.1393-8C>T Single submitter multiple intestinal atresia
c.1510+100_1510+108del Single submitter multiple intestinal atresia
c.1510+109T>A Single submitter
c.1510+117A>G Single submitter
c.1510+14C>T Single submitter multiple intestinal atresia
c.1510+176G>A Single submitter
c.1510+20A>G Single submitter multiple intestinal atresia
c.1510+7G>T Single submitter multiple intestinal atresia
c.1510+91C>T Single submitter
c.1511-102G>A Single submitter
c.1511-15T>A Single submitter multiple intestinal atresia
c.1511-4G>A Single submitter multiple intestinal atresia
c.1511-8C>A Single submitter multiple intestinal atresia
c.1511-8C>G Single submitter multiple intestinal atresia
c.1511-9C>G Single submitter multiple intestinal atresia
c.1511-9C>T Single submitter multiple intestinal atresia
c.1568+17C>G Single submitter multiple intestinal atresia
c.1568+19G>A Single submitter multiple intestinal atresia
c.1568+19G>T Single submitter multiple intestinal atresia
c.1569-12C>T Single submitter multiple intestinal atresia
c.1569-14C>G Single submitter multiple intestinal atresia
c.1569-7C>G Single submitter multiple intestinal atresia
c.1569-7C>T Single submitter multiple intestinal atresia
c.1569-9C>T Single submitter multiple intestinal atresia
c.1641+11C>T Single submitter multiple intestinal atresia
c.1641+17C>G Single submitter multiple intestinal atresia
c.1641+8G>T Single submitter multiple intestinal atresia
c.1642-10C>T Single submitter multiple intestinal atresia
c.1642-11T>C Single submitter multiple intestinal atresia
c.1642-16C>T Single submitter multiple intestinal atresia
c.1642-5A>G Single submitter multiple intestinal atresia
c.1802+13G>A Single submitter multiple intestinal atresia
c.1802+13G>C Single submitter multiple intestinal atresia
c.1802+17C>T Single submitter multiple intestinal atresia
c.1802+20T>C Single submitter multiple intestinal atresia
c.1802+9C>T Single submitter multiple intestinal atresia
c.1803-10G>A Single submitter multiple intestinal atresia
c.1803-10G>C Single submitter multiple intestinal atresia
c.1803-12C>A Single submitter multiple intestinal atresia
c.1803-16C>T Single submitter multiple intestinal atresia
c.1803-17A>G Single submitter multiple intestinal atresia
c.1803-3C>T Single submitter
c.1803-6C>A Single submitter multiple intestinal atresia
c.184+13del Single submitter multiple intestinal atresia
c.184+18C>T Single submitter multiple intestinal atresia
c.184+19T>C Single submitter
c.184+7A>C Single submitter multiple intestinal atresia
c.185-10T>G Single submitter multiple intestinal atresia
c.185-13C>T Single submitter multiple intestinal atresia
c.185-14A>T Single submitter multiple intestinal atresia
c.185-20A>G Single submitter multiple intestinal atresia
c.1919+11G>A Single submitter multiple intestinal atresia
c.1919+14A>G Single submitter multiple intestinal atresia
c.1919+17G>T Single submitter multiple intestinal atresia
c.1919+667A>G Single submitter
c.1919+841T>C Single submitter
c.1920-19G>A Single submitter multiple intestinal atresia
c.1920-4C>G Single submitter multiple intestinal atresia
c.2017+11G>A Single submitter multiple intestinal atresia
c.2017+15del Single submitter multiple intestinal atresia
c.2017+17T>C Single submitter multiple intestinal atresia
c.2017+19G>A Single submitter multiple intestinal atresia
c.2017+20G>A Single submitter multiple intestinal atresia
c.2017+8C>T Single submitter multiple intestinal atresia
c.2017+9G>A Single submitter multiple intestinal atresia
c.2018-12C>G Single submitter multiple intestinal atresia
c.2018-18T>C Single submitter multiple intestinal atresia
c.2018-19G>A Single submitter multiple intestinal atresia
c.2018-20C>T Single submitter multiple intestinal atresia
c.2018-6C>T Single submitter multiple intestinal atresia
c.2018-8C>G Single submitter multiple intestinal atresia
c.2152+15C>G Single submitter multiple intestinal atresia
c.2152+18A>G Single submitter multiple intestinal atresia
c.2152+19G>A Single submitter multiple intestinal atresia
c.2152+7G>A Single submitter multiple intestinal atresia
c.2152+8C>G Single submitter multiple intestinal atresia
c.2153-10G>C Single submitter multiple intestinal atresia
c.2153-12C>G Single submitter multiple intestinal atresia
c.2153-14T>C Single submitter multiple intestinal atresia
c.2153-9C>A Single submitter multiple intestinal atresia
c.2153-9C>G Single submitter multiple intestinal atresia
c.2355+12C>T Single submitter multiple intestinal atresia
c.2355+13C>A Single submitter multiple intestinal atresia
c.2355+15C>T Single submitter multiple intestinal atresia
c.2355+16C>A Single submitter multiple intestinal atresia
c.2355+16C>T Single submitter multiple intestinal atresia
c.2355+17C>G Single submitter multiple intestinal atresia
c.2355+17C>T Single submitter multiple intestinal atresia
c.2355+18_2355+19delinsTT Single submitter multiple intestinal atresia
c.2355+18G>A Single submitter multiple intestinal atresia
c.2355+19C>T Single submitter multiple intestinal atresia
c.2355+20G>A Single submitter multiple intestinal atresia
c.2355+7C>T Single submitter multiple intestinal atresia
c.2356-15_2356-11del Single submitter multiple intestinal atresia
c.2356-16T>C Single submitter multiple intestinal atresia
c.2356-17C>G Single submitter multiple intestinal atresia
c.2356-202G>A Single submitter
c.2356-20G>A Single submitter multiple intestinal atresia
c.2356-6C>T Single submitter multiple intestinal atresia
c.2356-8G>A Single submitter multiple intestinal atresia
c.348+12G>C Single submitter multiple intestinal atresia
c.348+16_348+23del Single submitter multiple intestinal atresia
c.348+7_348+8delinsGT Single submitter multiple intestinal atresia
c.348+7C>A Single submitter multiple intestinal atresia
c.348+7C>T Single submitter multiple intestinal atresia
c.348+8G>A Single submitter multiple intestinal atresia
c.349-12T>C Single submitter multiple intestinal atresia
c.349-5T>A Single submitter multiple intestinal atresia
c.349-8C>G Single submitter multiple intestinal atresia
c.349-8C>T Single submitter multiple intestinal atresia
c.517+11G>T Single submitter multiple intestinal atresia
c.517+14C>G Single submitter multiple intestinal atresia
c.517+62C>G Single submitter
c.517+8T>G Single submitter multiple intestinal atresia
c.649-10C>G Single submitter multiple intestinal atresia
c.649-20C>T Single submitter multiple intestinal atresia
c.649-338C>A Single submitter
c.649-4C>T Single submitter multiple intestinal atresia
c.649-8C>T Single submitter multiple intestinal atresia
c.649-9_649-8insTGAA Single submitter multiple intestinal atresia
c.764+10T>C Single submitter multiple intestinal atresia
c.764+11_764+12delinsCT Single submitter multiple intestinal atresia
c.764+7C>T Single submitter multiple intestinal atresia
c.764+9C>G Single submitter multiple intestinal atresia
c.765-10C>T Single submitter multiple intestinal atresia
c.765-14C>G Single submitter multiple intestinal atresia
c.765-14C>T Single submitter multiple intestinal atresia
c.765-5A>G Single submitter multiple intestinal atresia
c.765-6C>T Single submitter multiple intestinal atresia
c.843+10G>A Single submitter multiple intestinal atresia
c.843+13G>A Single submitter multiple intestinal atresia
c.843+15T>C Single submitter multiple intestinal atresia
c.843+19A>G Single submitter multiple intestinal atresia
c.843+20G>A Single submitter multiple intestinal atresia
c.844-11C>G Single submitter multiple intestinal atresia
c.844-7C>G Single submitter multiple intestinal atresia
c.844-7C>T Single submitter multiple intestinal atresia
p.Ala147= Single submitter multiple intestinal atresia
p.Ala243= Single submitter multiple intestinal atresia
p.Ala283= Single submitter multiple intestinal atresia
p.Ala380= Single submitter multiple intestinal atresia
p.Ala431= Single submitter multiple intestinal atresia
p.Ala433= Single submitter multiple intestinal atresia
p.Ala454= Single submitter multiple intestinal atresia
p.Ala455= Single submitter multiple intestinal atresia
p.Ala482= Single submitter multiple intestinal atresia
p.Ala492= Single submitter multiple intestinal atresia
p.Ala504= Single submitter multiple intestinal atresia
p.Ala517= Single submitter multiple intestinal atresia
p.Ala54= Single submitter multiple intestinal atresia
p.Ala55= Single submitter multiple intestinal atresia
p.Ala551= Single submitter multiple intestinal atresia
p.Ala566= Single submitter multiple intestinal atresia
p.Ala568= Single submitter multiple intestinal atresia
p.Ala578= Single submitter multiple intestinal atresia
p.Ala619= Single submitter multiple intestinal atresia
p.Ala738= Single submitter multiple intestinal atresia
p.Ala771= Single submitter multiple intestinal atresia
p.Ala798= Single submitter multiple intestinal atresia
p.Arg262= Single submitter multiple intestinal atresia
p.Arg34= Single submitter multiple intestinal atresia
p.Arg358= Single submitter multiple intestinal atresia
p.Arg364= Single submitter multiple intestinal atresia
p.Arg49= Single submitter multiple intestinal atresia
p.Arg624= Single submitter multiple intestinal atresia
p.Arg684= Single submitter multiple intestinal atresia
p.Arg803= Single submitter multiple intestinal atresia
p.Arg808= Single submitter multiple intestinal atresia
p.Asn829= Single submitter multiple intestinal atresia
p.Asp150= Single submitter multiple intestinal atresia
p.Asp669= Single submitter multiple intestinal atresia
p.Asp804= Single submitter multiple intestinal atresia
p.Cys229= Single submitter multiple intestinal atresia
p.Cys299= Single submitter multiple intestinal atresia
p.Cys733= Single submitter multiple intestinal atresia
p.Cys835= Single submitter multiple intestinal atresia
p.Gln161= Single submitter multiple intestinal atresia
p.Gln419= Single submitter multiple intestinal atresia
p.Gln554= Single submitter multiple intestinal atresia
p.Gln724= Single submitter multiple intestinal atresia
p.Gln76= Single submitter multiple intestinal atresia
p.Glu101= Single submitter multiple intestinal atresia
p.Glu155= Single submitter multiple intestinal atresia
p.Glu235= Single submitter multiple intestinal atresia
p.Glu298= Single submitter multiple intestinal atresia
p.Glu404= Single submitter multiple intestinal atresia
p.Glu469= Single submitter multiple intestinal atresia
p.Glu610= Single submitter multiple intestinal atresia

Uncertain significance 454

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

c.1203+5G>A Multiple submitters multiple intestinal atresia
c.1641+3G>C Multiple submitters multiple intestinal atresia
p.Ala145Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala247Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala247Thr Multiple submitters multiple intestinal atresia ⚠
p.Ala283Val Multiple submitters multiple intestinal atresia ⚠
p.Ala288Val Multiple submitters Inborn genetic diseases ⚠
p.Ala320Thr Multiple submitters multiple intestinal atresia ⚠
p.Ala455Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala455Val Multiple submitters multiple intestinal atresia ⚠
p.Ala528Val Multiple submitters multiple intestinal atresia ⚠
p.Ala551Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala568Thr Multiple submitters multiple intestinal atresia ⚠
p.Ala682Thr Multiple submitters multiple intestinal atresia ⚠
p.Ala70Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala815Ser Multiple submitters multiple intestinal atresia ⚠
p.Ala839Thr Multiple submitters multiple intestinal atresia ⚠
p.Ala83Asp Multiple submitters Inborn genetic diseases ⚠
p.Arg138Gln Multiple submitters multiple intestinal atresia ⚠
p.Arg138Pro Multiple submitters multiple intestinal atresia ⚠
p.Arg146Trp Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1 ⚠
p.Arg21Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg265Gln Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1 ⚠
p.Arg269Gln Multiple submitters multiple intestinal atresia ⚠
p.Arg325Trp Multiple submitters multiple intestinal atresia ⚠
p.Arg358Gln Multiple submitters multiple intestinal atresia ⚠
p.Arg358Leu Multiple submitters multiple intestinal atresia
p.Arg405Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg444Pro Multiple submitters multiple intestinal atresia ⚠
p.Arg48Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg515Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg546Gln Multiple submitters multiple intestinal atresia
p.Arg684Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg751Gln Multiple submitters multiple intestinal atresia ⚠
p.Arg753Trp Multiple submitters multiple intestinal atresia ⚠
p.Arg780Cys Multiple submitters multiple intestinal atresia ⚠
p.Arg791Gln Multiple submitters multiple intestinal atresia ⚠
p.Arg803Cys Multiple submitters multiple intestinal atresia ⚠
p.Arg803His Multiple submitters Inborn genetic diseases ⚠
p.Asn251Ile Multiple submitters Inborn genetic diseases ⚠
p.Asn775Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp503= Multiple submitters multiple intestinal atresia
p.Asp503Glu Multiple submitters Inborn genetic diseases ⚠
p.Cys20Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys812Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln526Arg Multiple submitters multiple intestinal atresia ⚠
p.Gln547Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln809Arg Multiple submitters multiple intestinal atresia ⚠
p.Glu18Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu353Lys Multiple submitters volvulus of midgut ⚠
p.Glu617Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu686Val Multiple submitters multiple intestinal atresia ⚠
p.Glu821Ala Multiple submitters multiple intestinal atresia ⚠
p.Glu830Lys Multiple submitters multiple intestinal atresia ⚠
p.Gly24Ala Multiple submitters multiple intestinal atresia ⚠
p.Gly332Glu Multiple submitters multiple intestinal atresia ⚠
p.Gly65Ala Multiple submitters multiple intestinal atresia ⚠
p.Gly759Ser Multiple submitters multiple intestinal atresia ⚠
p.His112Arg Multiple submitters Inborn genetic diseases ⚠
p.His225Leu Multiple submitters multiple intestinal atresia ⚠
p.His567Tyr Multiple submitters Inborn genetic diseases ⚠
p.Ile342Met Multiple submitters multiple intestinal atresia ⚠
p.Ile476Val Multiple submitters multiple intestinal atresia ⚠
p.Leu11Pro Multiple submitters TTC7A-related disorder ⚠
p.Leu159Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu165Val Multiple submitters multiple intestinal atresia ⚠
p.Leu348Val Multiple submitters multiple intestinal atresia ⚠
p.Leu92Pro Multiple submitters Inborn genetic diseases ⚠
p.Lys339Arg Multiple submitters multiple intestinal atresia ⚠
p.Lys339Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys728Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys758Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys94Gln Multiple submitters Inborn genetic diseases ⚠
p.Met355Val Multiple submitters Inborn genetic diseases ⚠
p.Met660Leu Multiple submitters multiple intestinal atresia ⚠
p.Met689Ile Multiple submitters multiple intestinal atresia ⚠
p.Met750Ile Multiple submitters multiple intestinal atresia ⚠
p.Met89Lys Multiple submitters Inborn genetic diseases ⚠
p.Phe279Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe311Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro231Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro327Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro338Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro366Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro52Ser Multiple submitters multiple intestinal atresia ⚠
p.Pro742Arg Multiple submitters multiple intestinal atresia ⚠
p.Pro855Arg Multiple submitters multiple intestinal atresia ⚠
p.Pro97Leu Multiple submitters multiple intestinal atresia ⚠
p.Ser15Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser166Leu Multiple submitters multiple intestinal atresia ⚠
p.Ser223Leu Multiple submitters multiple intestinal atresia ⚠
p.Ser400Leu Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1 ⚠
p.Ser477Cys Multiple submitters multiple intestinal atresia ⚠
p.Ser539Leu Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1
p.Ser845Gly Multiple submitters multiple intestinal atresia ⚠
p.Ser88Pro Multiple submitters multiple intestinal atresia ⚠
p.Thr217Asn Multiple submitters multiple intestinal atresia ⚠
p.Thr222Met Multiple submitters multiple intestinal atresia ⚠
p.Thr276Ser Multiple submitters multiple intestinal atresia ⚠
p.Thr449Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr653Ala Multiple submitters gastrointestinal defects and immunodeficiency syndrome 1 ⚠
p.Thr708Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr709Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr300Cys Multiple submitters multiple intestinal atresia ⚠
p.Tyr383Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr537Cys Multiple submitters multiple intestinal atresia ⚠
p.Val133Met Multiple submitters multiple intestinal atresia ⚠
p.Val397Asp Multiple submitters Inborn genetic diseases ⚠
p.Val534Ile Multiple submitters multiple intestinal atresia ⚠
p.Val607Met Multiple submitters multiple intestinal atresia ⚠
p.Val621Leu Multiple submitters Inborn genetic diseases ⚠
p.Val806Met Multiple submitters multiple intestinal atresia ⚠
c.1001+3A>G Single submitter multiple intestinal atresia
c.1001+5G>C Single submitter multiple intestinal atresia
c.1203+16_1203+30delinsACGTACTG Single submitter multiple intestinal atresia
c.1203+3A>G Single submitter multiple intestinal atresia
c.1288-3C>T Single submitter multiple intestinal atresia
c.1392+3G>A Single submitter multiple intestinal atresia
c.1568+3G>A Single submitter multiple intestinal atresia
c.1641+3G>A Single submitter multiple intestinal atresia
c.1641+4G>A Single submitter multiple intestinal atresia
c.1642-4A>G Single submitter multiple intestinal atresia
c.1919+4A>G Single submitter multiple intestinal atresia
c.1919+5G>A Single submitter multiple intestinal atresia
c.1919+6T>A Single submitter
c.1919+869C>T Single submitter multiple intestinal atresia
c.1919+870del Single submitter gastrointestinal defects and immunodeficiency syndrome 1
c.2018-3C>T Single submitter multiple intestinal atresia
c.2355+4A>G Single submitter
c.348+4A>G Single submitter multiple intestinal atresia
c.517+3A>G Single submitter multiple intestinal atresia
c.843+5T>C Single submitter multiple intestinal atresia
p.Ala145Ser Single submitter multiple intestinal atresia ⚠
p.Ala168Gly Single submitter multiple intestinal atresia ⚠
p.Ala22Thr Single submitter Inborn genetic diseases ⚠
p.Ala323Val Single submitter multiple intestinal atresia ⚠
p.Ala381Thr Single submitter multiple intestinal atresia ⚠
p.Ala410Thr Single submitter multiple intestinal atresia ⚠
p.Ala410Val Single submitter multiple intestinal atresia
p.Ala433Ser Single submitter ⚠
p.Ala433Thr Single submitter Inborn genetic diseases ⚠
p.Ala455Ser Single submitter multiple intestinal atresia ⚠
p.Ala468Thr Single submitter ⚠
p.Ala472Pro Single submitter multiple intestinal atresia ⚠
p.Ala517Thr Single submitter multiple intestinal atresia ⚠
p.Ala524Asp Single submitter multiple intestinal atresia ⚠
p.Ala524Val Single submitter multiple intestinal atresia
p.Ala543Val Single submitter ⚠
p.Ala55Ser Single submitter Inborn genetic diseases ⚠
p.Ala55Thr Single submitter multiple intestinal atresia ⚠
p.Ala55Val Single submitter ⚠
p.Ala568Ser Single submitter ⚠
p.Ala585Asp Single submitter Inborn genetic diseases ⚠
p.Ala585Val Single submitter Inborn genetic diseases ⚠
p.Ala667Val Single submitter multiple intestinal atresia ⚠
p.Ala677Ser Single submitter multiple intestinal atresia ⚠
p.Ala717Pro Single submitter Inborn genetic diseases ⚠
p.Ala72Thr Single submitter Inborn genetic diseases ⚠
p.Ala730Gly Single submitter multiple intestinal atresia ⚠
p.Ala737Val Single submitter multiple intestinal atresia ⚠
p.Ala738Val Single submitter multiple intestinal atresia ⚠
p.Ala771Val Single submitter multiple intestinal atresia ⚠
p.Ala83Gly Single submitter multiple intestinal atresia ⚠
p.Ala844Val Single submitter Inborn genetic diseases ⚠
p.Arg163Gln Single submitter multiple intestinal atresia ⚠
p.Arg163Leu Single submitter multiple intestinal atresia ⚠
p.Arg163Trp Single submitter multiple intestinal atresia ⚠
p.Arg21Cys Single submitter multiple intestinal atresia ⚠
p.Arg224Lys Single submitter Inborn genetic diseases ⚠
p.Arg269Trp Single submitter multiple intestinal atresia ⚠
p.Arg34Gln Single submitter multiple intestinal atresia ⚠
p.Arg358Gly Single submitter multiple intestinal atresia ⚠
p.Arg364Trp Single submitter multiple intestinal atresia ⚠
p.Arg372Gln Single submitter Inborn genetic diseases ⚠
p.Arg438Gln Single submitter multiple intestinal atresia ⚠
p.Arg438Trp Single submitter Inborn genetic diseases ⚠
p.Arg444Gln Single submitter multiple intestinal atresia ⚠
p.Arg444Trp Single submitter multiple intestinal atresia ⚠
p.Arg463Cys Single submitter ⚠
p.Arg463His Single submitter multiple intestinal atresia ⚠
p.Arg562Cys Single submitter multiple intestinal atresia ⚠
p.Arg562His Single submitter Inborn genetic diseases ⚠
p.Arg562Leu Single submitter Inborn genetic diseases ⚠
p.Arg628Ser Single submitter Inborn genetic diseases ⚠
p.Arg675Gln Single submitter Inborn genetic diseases ⚠
p.Arg675Leu Single submitter multiple intestinal atresia ⚠
p.Arg675Trp Single submitter multiple intestinal atresia ⚠
p.Arg676Gln Single submitter multiple intestinal atresia ⚠
p.Arg684Gln Single submitter ⚠
p.Arg751Trp Single submitter multiple intestinal atresia ⚠
p.Arg780His Single submitter multiple intestinal atresia ⚠
p.Arg803Leu Single submitter multiple intestinal atresia ⚠
p.Arg803Tyr Single submitter multiple intestinal atresia
p.Arg808Met Single submitter multiple intestinal atresia ⚠
p.Arg856Gly Single submitter multiple intestinal atresia ⚠
p.Asn156Lys Single submitter multiple intestinal atresia ⚠
p.Asn341His Single submitter multiple intestinal atresia ⚠
p.Asn378Tyr Single submitter multiple intestinal atresia ⚠
p.Asn47Lys Single submitter multiple intestinal atresia ⚠
p.Asn590Ser Single submitter multiple intestinal atresia ⚠
p.Asn601Asp Single submitter Inborn genetic diseases ⚠
p.Asn601Lys Single submitter Inborn genetic diseases ⚠
p.Asn601Thr Single submitter ⚠
p.Asp139Gly Single submitter multiple intestinal atresia ⚠
p.Asp150Glu Single submitter Inborn genetic diseases ⚠
p.Asp151Gly Single submitter Inborn genetic diseases ⚠
p.Asp27Tyr Single submitter Inborn genetic diseases ⚠
p.Asp340Glu Single submitter Inborn genetic diseases ⚠
p.Asp359Asn Single submitter Inborn genetic diseases ⚠
p.Asp384Val Single submitter multiple intestinal atresia ⚠
p.Asp511Gly Single submitter multiple intestinal atresia ⚠
p.Asp564Asn Single submitter multiple intestinal atresia ⚠
p.Asp60Glu Single submitter multiple intestinal atresia ⚠
p.Asp777Asn Single submitter Inborn genetic diseases ⚠
p.Asp834Asn Single submitter multiple intestinal atresia ⚠
p.Asp834Tyr Single submitter Inborn genetic diseases ⚠
p.Cys299Ser Single submitter gastrointestinal defects and immunodeficiency syndrome 1 ⚠
p.Cys440Arg Single submitter ⚠
p.Cys458Tyr Single submitter multiple intestinal atresia ⚠
p.Cys733Arg Single submitter multiple intestinal atresia ⚠
p.Gln277Glu Single submitter multiple intestinal atresia ⚠
p.Gln395Glu Single submitter multiple intestinal atresia ⚠
p.Gln525Arg Single submitter multiple intestinal atresia ⚠
p.Gln526Pro Single submitter Inborn genetic diseases ⚠
p.Gln533Pro Single submitter multiple intestinal atresia ⚠
p.Gln701His Single submitter multiple intestinal atresia ⚠
p.Gln705Arg Single submitter ⚠
p.Gln735His Single submitter multiple intestinal atresia ⚠
p.Gln824Arg Single submitter multiple intestinal atresia ⚠
p.Gln828Ter Single submitter multiple intestinal atresia
p.Glu101Lys Single submitter Inborn genetic diseases ⚠
p.Glu101Ser Single submitter multiple intestinal atresia
p.Glu134Asp Single submitter multiple intestinal atresia ⚠
p.Glu167Asp Single submitter multiple intestinal atresia ⚠
p.Glu167del Single submitter multiple intestinal atresia
p.Glu16Lys Single submitter multiple intestinal atresia ⚠
p.Glu263Gln Single submitter Inborn genetic diseases ⚠
p.Glu316Asp Single submitter multiple intestinal atresia ⚠
p.Glu331del Single submitter multiple intestinal atresia
p.Glu343Lys Single submitter multiple intestinal atresia ⚠
p.Glu370Lys Single submitter multiple intestinal atresia ⚠
p.Glu404Ala Single submitter multiple intestinal atresia ⚠
p.Glu439Asp Single submitter multiple intestinal atresia ⚠
p.Glu439Lys Single submitter Inborn genetic diseases ⚠
p.Glu466Gly Single submitter multiple intestinal atresia ⚠
p.Glu553Lys Single submitter Inborn genetic diseases ⚠
p.Glu598Asp Single submitter multiple intestinal atresia ⚠
p.Glu650Asp Single submitter Inborn genetic diseases ⚠
p.Glu814Lys Single submitter multiple intestinal atresia ⚠
p.Glu821Lys Single submitter multiple intestinal atresia ⚠
p.Glu843Gln Single submitter multiple intestinal atresia
p.Glu857Asp Single submitter multiple intestinal atresia ⚠
p.Gly113Glu Single submitter multiple intestinal atresia ⚠
p.Gly135Ser Single submitter Inborn genetic diseases ⚠
p.Gly148Arg Single submitter multiple intestinal atresia ⚠
p.Gly260Asp Single submitter multiple intestinal atresia ⚠
p.Gly289Glu Single submitter multiple intestinal atresia ⚠
p.Gly460Arg Single submitter Inborn genetic diseases ⚠
p.Gly46Arg Single submitter multiple intestinal atresia ⚠
p.Gly46Asp Single submitter Inborn genetic diseases ⚠
p.Gly479Arg Single submitter Inborn genetic diseases ⚠
p.Gly489Asp Single submitter Inborn genetic diseases ⚠
p.Gly50Arg Single submitter multiple intestinal atresia ⚠
p.Gly615Val Single submitter multiple intestinal atresia
p.Gly641Asp Single submitter multiple intestinal atresia ⚠
p.Gly649Ser Single submitter multiple intestinal atresia ⚠
p.Gly659Ser Single submitter Inborn genetic diseases ⚠
p.Gly702Asp Single submitter multiple intestinal atresia
p.Gly731Asp Single submitter multiple intestinal atresia ⚠
p.Gly793Asp Single submitter ⚠
p.Gly827Asp Single submitter multiple intestinal atresia ⚠
p.His112Gln Single submitter multiple intestinal atresia ⚠
p.His225Tyr Single submitter multiple intestinal atresia ⚠
p.His230Asp Single submitter multiple intestinal atresia ⚠
p.His230Gln Single submitter multiple intestinal atresia ⚠
p.His25Tyr Single submitter multiple intestinal atresia ⚠
p.His293Arg Single submitter multiple intestinal atresia ⚠
p.His293Pro Single submitter multiple intestinal atresia ⚠
p.His584Asn Single submitter multiple intestinal atresia ⚠
p.His668Arg Single submitter Inborn genetic diseases ⚠
p.His745Asp Single submitter multiple intestinal atresia
p.His794Pro Single submitter multiple intestinal atresia ⚠
p.Ile126Met Single submitter multiple intestinal atresia ⚠
p.Ile149Thr Single submitter multiple intestinal atresia ⚠
p.Ile149Val Single submitter multiple intestinal atresia ⚠
p.Ile257Val Single submitter multiple intestinal atresia ⚠
p.Ile342Phe Single submitter multiple intestinal atresia ⚠
p.Ile382Phe Single submitter multiple intestinal atresia ⚠
p.Ile382Val Single submitter multiple intestinal atresia ⚠
p.Ile680Val Single submitter multiple intestinal atresia ⚠
p.Ile854Val Single submitter multiple intestinal atresia ⚠
p.Leu125Pro Single submitter multiple intestinal atresia ⚠
p.Leu127Pro Single submitter multiple intestinal atresia ⚠
p.Leu159Met Single submitter multiple intestinal atresia ⚠
p.Leu236Pro Single submitter multiple intestinal atresia
p.Leu240Pro Single submitter multiple intestinal atresia ⚠
p.Leu240Val Single submitter multiple intestinal atresia ⚠
p.Leu295Pro Single submitter multiple intestinal atresia ⚠
p.Leu329Phe Single submitter multiple intestinal atresia ⚠
p.Leu346Phe Single submitter multiple intestinal atresia ⚠