ATRIP — 1118 ClinVar variants
All ClinVar germline ATRIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 697 flagged for review →
1 Likely pathogenic · 12 Conflicting · 16 Benign · 7 Benign/Likely benign · 329 Likely benign · 753 Uncertain significance
Full ATRIP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 697
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 436
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 436
- ATRIP p.Ala119Thr Uncertain significance Multiple submitters
- ATRIP p.Ala173Val Uncertain significance Multiple submitters
- ATRIP p.Ala374Thr Uncertain significance Multiple submitters
- ATRIP p.Ala390Ser Uncertain significance Multiple submitters
- ATRIP p.Ala552Thr Uncertain significance Multiple submitters
- ATRIP p.Ala606Val Uncertain significance Multiple submitters
- ATRIP p.Ala704Thr Uncertain significance Multiple submitters
- ATRIP p.Ala779Val Uncertain significance Multiple submitters
- ATRIP p.Arg226Lys Uncertain significance Multiple submitters
- ATRIP p.Arg396His Uncertain significance Multiple submitters
- ATRIP p.Arg527Ser Uncertain significance Multiple submitters
- ATRIP p.Arg715Gln Uncertain significance Multiple submitters
- ATRIP p.Arg721Trp Uncertain significance Multiple submitters
- ATRIP p.Asn392Ser Uncertain significance Multiple submitters
- ATRIP p.Asp399His Uncertain significance Multiple submitters
- ATRIP p.Asp578Ala Uncertain significance Multiple submitters
- ATRIP p.Asp58Glu Uncertain significance Multiple submitters
- ATRIP p.Asp80Glu Uncertain significance Multiple submitters
- ATRIP p.Cys768Gly Uncertain significance Multiple submitters
- ATRIP p.Gln151Glu Uncertain significance Multiple submitters
- ATRIP p.Gln172Arg Uncertain significance Multiple submitters
- ATRIP p.Gln264Glu Uncertain significance Multiple submitters
- ATRIP p.Gln681His Uncertain significance Multiple submitters
- ATRIP p.Glu113Lys Uncertain significance Multiple submitters
- ATRIP p.Glu133Gly Uncertain significance Multiple submitters
- ATRIP p.Glu573Lys Uncertain significance Multiple submitters
- ATRIP p.Gly444Arg Uncertain significance Multiple submitters
- ATRIP p.Gly706Val Uncertain significance Multiple submitters
- ATRIP p.Gly761Arg Uncertain significance Multiple submitters
- ATRIP p.His163Arg Uncertain significance Multiple submitters
- ATRIP p.His261Gln Uncertain significance Multiple submitters
- ATRIP p.His52Arg Uncertain significance Multiple submitters
- ATRIP p.Leu165Val Uncertain significance Multiple submitters
- ATRIP p.Lys665Arg Uncertain significance Multiple submitters
- ATRIP p.Met738Val Uncertain significance Multiple submitters
- ATRIP p.Phe242Leu Uncertain significance Multiple submitters
- ATRIP p.Phe297Val Uncertain significance Multiple submitters
- ATRIP p.Pro218Ala Uncertain significance Multiple submitters
- ATRIP p.Pro30Ser Uncertain significance Multiple submitters
- ATRIP p.Pro340Leu Uncertain significance Multiple submitters
- ATRIP p.Pro673Leu Uncertain significance Multiple submitters
- ATRIP p.Pro98Leu Uncertain significance Multiple submitters
- ATRIP p.Ser230Pro Uncertain significance Multiple submitters
- ATRIP p.Ser278Arg Uncertain significance Multiple submitters
- ATRIP p.Ser278Thr Uncertain significance Multiple submitters
- ATRIP p.Ser31Arg Uncertain significance Multiple submitters
- ATRIP p.Ser358Leu Uncertain significance Multiple submitters
- ATRIP p.Ser68Leu Uncertain significance Multiple submitters
- ATRIP p.Ser731Leu Uncertain significance Multiple submitters
- ATRIP p.Thr249Ala Uncertain significance Multiple submitters
- ATRIP p.Thr353Ser Uncertain significance Multiple submitters
- ATRIP p.Thr523Asn Uncertain significance Multiple submitters
- ATRIP p.Thr523Pro Uncertain significance Multiple submitters
- ATRIP p.Val569Leu Uncertain significance Multiple submitters
- ATRIP p.Val646Met Uncertain significance Multiple submitters
- ATRIP p.Val692Met Uncertain significance Multiple submitters
- ATRIP p.Ala197Ser Uncertain significance Single submitter
- ATRIP p.Ala216Val Uncertain significance Single submitter
- ATRIP p.Ala237Val Uncertain significance Single submitter
- ATRIP p.Ala293Asp Uncertain significance Single submitter
- ATRIP p.Ala34Ser Uncertain significance Single submitter
- ATRIP p.Ala355Ser Uncertain significance Single submitter
- ATRIP p.Ala390Val Uncertain significance Single submitter
- ATRIP p.Ala39Ser Uncertain significance Single submitter
- ATRIP p.Ala401Thr Uncertain significance Single submitter
- ATRIP p.Ala407Asp Uncertain significance Single submitter
- ATRIP p.Ala42Asp Uncertain significance Single submitter
- ATRIP p.Ala433Val Uncertain significance Single submitter
- ATRIP p.Ala439Thr Uncertain significance Single submitter
- ATRIP p.Ala445Glu Uncertain significance Single submitter
- ATRIP p.Ala445Thr Uncertain significance Single submitter
- ATRIP p.Ala445Val Uncertain significance Single submitter
- ATRIP p.Ala491Gly Uncertain significance Single submitter
- ATRIP p.Ala502Glu Uncertain significance Single submitter
- ATRIP p.Ala502Thr Uncertain significance Single submitter
- ATRIP p.Ala505Thr Uncertain significance Single submitter
- ATRIP p.Ala51Ser Uncertain significance Single submitter
- ATRIP p.Ala525Val Uncertain significance Single submitter
- ATRIP p.Ala530Thr Uncertain significance Single submitter
- ATRIP p.Ala547Asp Uncertain significance Single submitter
- ATRIP p.Ala547Val Uncertain significance Single submitter
- ATRIP p.Ala551Glu Uncertain significance Single submitter
- ATRIP p.Ala551Val Uncertain significance Single submitter
- ATRIP p.Ala552Val Uncertain significance Single submitter
- ATRIP p.Ala558Asp Uncertain significance Single submitter
- ATRIP p.Ala558Gly Uncertain significance Single submitter
- ATRIP p.Ala572Asp Uncertain significance Single submitter
- ATRIP p.Ala614Ser Uncertain significance Single submitter
- ATRIP p.Ala664Thr Uncertain significance Single submitter
- ATRIP p.Ala689Gly Uncertain significance Single submitter
- ATRIP p.Ala704Gly Uncertain significance Single submitter
- ATRIP p.Ala778Gly Uncertain significance Single submitter
- ATRIP p.Ala778Val Uncertain significance Single submitter
- ATRIP p.Ala779Ser Uncertain significance Single submitter
- ATRIP p.Ala779Thr Uncertain significance Single submitter
- ATRIP p.Ala77Pro Uncertain significance Single submitter
- ATRIP p.Arg12Pro Uncertain significance Single submitter
- ATRIP p.Arg146Gln Uncertain significance Single submitter
- ATRIP p.Arg146Gly Uncertain significance Single submitter
- ATRIP p.Arg146Pro Uncertain significance Single submitter
- ATRIP p.Arg160Lys Uncertain significance Single submitter
- ATRIP p.Arg19Leu Uncertain significance Single submitter
- ATRIP p.Arg302Lys Uncertain significance Single submitter
- ATRIP p.Arg304Gly Uncertain significance Single submitter
- ATRIP p.Arg304Ser Uncertain significance Single submitter
- ATRIP p.Arg304Thr Uncertain significance Single submitter
- ATRIP p.Arg361Ser Uncertain significance Single submitter
- ATRIP p.Arg391Leu Uncertain significance Single submitter
- ATRIP p.Arg396Ser Uncertain significance Single submitter
- ATRIP p.Arg405Thr Uncertain significance Single submitter
- ATRIP p.Arg406Lys Uncertain significance Single submitter
- ATRIP p.Arg511Ser Uncertain significance Single submitter
- ATRIP p.Arg527Lys Uncertain significance Single submitter
- ATRIP p.Arg645Thr Uncertain significance Single submitter
- ATRIP p.Arg703Lys Uncertain significance Single submitter
- ATRIP p.Arg709Gly Uncertain significance Single submitter
- ATRIP p.Arg79Gly Uncertain significance Single submitter
- ATRIP p.Arg79Pro Uncertain significance Single submitter
- ATRIP p.Asn102Asp Uncertain significance Single submitter
- ATRIP p.Asn102Ile Uncertain significance Single submitter
- ATRIP p.Asn102Ser Uncertain significance Single submitter
- ATRIP p.Asn111Asp Uncertain significance Single submitter
- ATRIP p.Asn111Thr Uncertain significance Single submitter
- ATRIP p.Asn139Ser Uncertain significance Single submitter
- ATRIP p.Asn256Asp Uncertain significance Single submitter
- ATRIP p.Asn387Ser Uncertain significance Single submitter
- ATRIP p.Asn510Asp Uncertain significance Single submitter
- ATRIP p.Asn510Lys Uncertain significance Single submitter
- ATRIP p.Asn679Lys Uncertain significance Single submitter
- ATRIP p.Asn97Ser Uncertain significance Single submitter
- ATRIP p.Asp110Glu Uncertain significance Single submitter
- ATRIP p.Asp176Asn Uncertain significance Single submitter
- ATRIP p.Asp196Glu Uncertain significance Single submitter
- ATRIP p.Asp196Tyr Uncertain significance Single submitter
- ATRIP p.Asp367Asn Uncertain significance Single submitter
- ATRIP p.Asp367Gly Uncertain significance Single submitter
- ATRIP p.Asp367His Uncertain significance Single submitter
- ATRIP p.Asp367Tyr Uncertain significance Single submitter
- ATRIP p.Asp397Ala Uncertain significance Single submitter
- ATRIP p.Asp399Glu Uncertain significance Single submitter
- ATRIP p.Asp436Gly Uncertain significance Single submitter
- ATRIP p.Asp448Asn Uncertain significance Single submitter
- ATRIP p.Asp44Ala Uncertain significance Single submitter
- ATRIP p.Asp44Glu Uncertain significance Single submitter
- ATRIP p.Asp532Glu Uncertain significance Single submitter
- ATRIP p.Asp615Asn Uncertain significance Single submitter
- ATRIP p.Asp734Glu Uncertain significance Single submitter
- ATRIP p.Asp749Glu Uncertain significance Single submitter
- ATRIP p.Asp749Gly Uncertain significance Single submitter
- ATRIP p.Asp767Ala Uncertain significance Single submitter
Predictors split 255
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 255
- ATRIP p.Ala374Val Uncertain significance Multiple submitters
- ATRIP p.Ala620Val Uncertain significance Multiple submitters
- ATRIP p.Arg11Thr Uncertain significance Multiple submitters
- ATRIP p.Arg391Trp Uncertain significance Multiple submitters
- ATRIP p.Arg582Gly Uncertain significance Multiple submitters
- ATRIP p.Arg642Gln Uncertain significance Multiple submitters
- ATRIP p.Arg642Trp Uncertain significance Multiple submitters
- ATRIP p.Arg715Trp Uncertain significance Multiple submitters
- ATRIP p.Arg718His Uncertain significance Multiple submitters
- ATRIP p.Asp617Asn Uncertain significance Multiple submitters
- ATRIP p.Asp711Asn Benign/Likely benign Multiple submitters
- ATRIP p.Asp722Asn Uncertain significance Multiple submitters
- ATRIP p.Asp782Asn Uncertain significance Multiple submitters
- ATRIP p.Cys680Ser Uncertain significance Multiple submitters
- ATRIP p.Cys719Arg Uncertain significance Multiple submitters
- ATRIP p.Glu61Lys Uncertain significance Multiple submitters
- ATRIP p.Glu787Lys Uncertain significance Multiple submitters
- ATRIP p.Leu542Phe Uncertain significance Multiple submitters
- ATRIP p.Leu546Trp Uncertain significance Multiple submitters
- ATRIP p.Leu66Phe Uncertain significance Multiple submitters
- ATRIP p.Leu690Phe Uncertain significance Multiple submitters
- ATRIP p.Leu736Pro Uncertain significance Multiple submitters
- ATRIP p.Pro20Ser Uncertain significance Multiple submitters
- ATRIP p.Pro235Leu Uncertain significance Multiple submitters
- ATRIP p.Pro240Leu Benign Multiple submitters
- ATRIP p.Pro43Thr Uncertain significance Multiple submitters
- ATRIP p.Pro643Leu Uncertain significance Multiple submitters
- ATRIP p.Pro753Leu Uncertain significance Multiple submitters
- ATRIP p.Pro763His Uncertain significance Multiple submitters
- ATRIP p.Ser300Asn Uncertain significance Multiple submitters
- ATRIP p.Ser371Cys Uncertain significance Multiple submitters
- ATRIP p.Ser670Asn Uncertain significance Multiple submitters
- ATRIP p.Thr265Met Uncertain significance Multiple submitters
- ATRIP p.Thr562Asn Uncertain significance Multiple submitters
- ATRIP p.Thr691Met Uncertain significance Multiple submitters
- ATRIP p.Trp652Arg Uncertain significance Multiple submitters
- ATRIP p.Val155Phe Uncertain significance Multiple submitters
- ATRIP p.Val493Ile Uncertain significance Multiple submitters
- ATRIP p.Val603Met Uncertain significance Multiple submitters
- ATRIP p.Val717Ala Uncertain significance Multiple submitters
- ATRIP p.Val744Phe Uncertain significance Multiple submitters
- ATRIP p.Ala173Thr Uncertain significance Single submitter
- ATRIP p.Ala197Glu Uncertain significance Single submitter
- ATRIP p.Ala212Pro Uncertain significance Single submitter
- ATRIP p.Ala2Gly Uncertain significance Single submitter
- ATRIP p.Ala2Pro Uncertain significance Single submitter
- ATRIP p.Ala34Thr Uncertain significance Single submitter
- ATRIP p.Ala378Thr Uncertain significance Single submitter
- ATRIP p.Ala41Val Uncertain significance Single submitter
- ATRIP p.Ala42Thr Uncertain significance Single submitter
- ATRIP p.Ala439Ser Uncertain significance Single submitter
- ATRIP p.Ala478Thr Uncertain significance Single submitter
- ATRIP p.Ala478Val Uncertain significance Single submitter
- ATRIP p.Ala57Thr Uncertain significance Single submitter
- ATRIP p.Ala57Val Uncertain significance Single submitter
- ATRIP p.Ala614Val Likely benign Single submitter
- ATRIP p.Ala647Val Uncertain significance Single submitter
- ATRIP p.Ala67Thr Uncertain significance Single submitter
- ATRIP p.Ala689Val Uncertain significance Single submitter
- ATRIP p.Ala6Val Uncertain significance Single submitter
- ATRIP p.Ala70Thr Uncertain significance Single submitter
- ATRIP p.Ala772Val Uncertain significance Single submitter
- ATRIP p.Ala77Thr Uncertain significance Single submitter
- ATRIP p.Arg11Lys Conflicting Single submitter
- ATRIP p.Arg12Trp Uncertain significance Single submitter
- ATRIP p.Arg161Gly Uncertain significance Single submitter
- ATRIP p.Arg19His Uncertain significance Single submitter
- ATRIP p.Arg203Ser Uncertain significance Single submitter
- ATRIP p.Arg33Gln Uncertain significance Single submitter
- ATRIP p.Arg33Pro Uncertain significance Single submitter
- ATRIP p.Arg35Gln Uncertain significance Single submitter
- ATRIP p.Arg35Leu Uncertain significance Single submitter
- ATRIP p.Arg35Trp Uncertain significance Single submitter
- ATRIP p.Arg702Gly Uncertain significance Single submitter
- ATRIP p.Arg702Trp Uncertain significance Single submitter
- ATRIP p.Arg718Cys Uncertain significance Single submitter
- ATRIP p.Arg721Gln Uncertain significance Single submitter
- ATRIP p.Arg760Gln Uncertain significance Single submitter
- ATRIP p.Arg79Trp Uncertain significance Single submitter
- ATRIP p.Asn111Ile Uncertain significance Single submitter
- ATRIP p.Asn213Asp Uncertain significance Single submitter
- ATRIP p.Asn97Tyr Uncertain significance Single submitter
- ATRIP p.Asp397Tyr Uncertain significance Single submitter
- ATRIP p.Asp448Tyr Uncertain significance Single submitter
- ATRIP p.Asp46His Uncertain significance Single submitter
- ATRIP p.Asp47His Uncertain significance Single submitter
- ATRIP p.Asp711Tyr Conflicting Single submitter
- ATRIP p.Asp782His Uncertain significance Single submitter
- ATRIP p.Cys431Tyr Uncertain significance Single submitter
- ATRIP p.Cys585Tyr Uncertain significance Single submitter
- ATRIP p.Cys593Tyr Uncertain significance Single submitter
- ATRIP p.Cys777Arg Uncertain significance Single submitter
- ATRIP p.Gln118Glu Uncertain significance Single submitter
- ATRIP p.Gln159Arg Uncertain significance Single submitter
- ATRIP p.Gln563His Uncertain significance Single submitter
- ATRIP p.Gln618His Uncertain significance Single submitter
- ATRIP p.Gln651Arg Uncertain significance Single submitter
- ATRIP p.Gln651Lys Uncertain significance Single submitter
- ATRIP p.Gln654Pro Uncertain significance Single submitter
- ATRIP p.Gln713Arg Uncertain significance Single submitter
- ATRIP p.Glu113Val Uncertain significance Single submitter
- ATRIP p.Glu134Val Uncertain significance Single submitter
- ATRIP p.Glu14Lys Likely benign Single submitter
- ATRIP p.Glu191Lys Uncertain significance Single submitter
- ATRIP p.Glu191Val Uncertain significance Single submitter
- ATRIP p.Glu198Ala Uncertain significance Single submitter
- ATRIP p.Glu236Gly Uncertain significance Single submitter
- ATRIP p.Glu236Lys Uncertain significance Single submitter
- ATRIP p.Glu276Lys Uncertain significance Single submitter
- ATRIP p.Glu393Lys Uncertain significance Single submitter
- ATRIP p.Glu61Gly Uncertain significance Single submitter
- ATRIP p.Glu628Val Uncertain significance Single submitter
- ATRIP p.Glu62Asp Uncertain significance Single submitter
- ATRIP p.Glu649Lys Likely benign Single submitter
- ATRIP p.Glu784Lys Uncertain significance Single submitter
- ATRIP p.Gly140Arg Uncertain significance Single submitter
- ATRIP p.Gly140Glu Uncertain significance Single submitter
- ATRIP p.Gly309Asp Uncertain significance Single submitter
- ATRIP p.Gly324Arg Uncertain significance Single submitter
- ATRIP p.Gly349Glu Uncertain significance Single submitter
- ATRIP p.Gly428Arg Uncertain significance Single submitter
- ATRIP p.Gly428Asp Uncertain significance Single submitter
- ATRIP p.Gly428Ser Uncertain significance Single submitter
- ATRIP p.Gly428Val Uncertain significance Single submitter
- ATRIP p.Gly459Trp Uncertain significance Single submitter
- ATRIP p.Gly53Arg Uncertain significance Single submitter
- ATRIP p.Gly8Val Uncertain significance Single submitter
- ATRIP p.His28Tyr Uncertain significance Single submitter
- ATRIP p.His418Pro Uncertain significance Single submitter
- ATRIP p.His430Arg Uncertain significance Single submitter
- ATRIP p.His536Tyr Uncertain significance Single submitter
- ATRIP p.His544Tyr Uncertain significance Single submitter
- ATRIP p.His616Arg Uncertain significance Single submitter
- ATRIP p.His616Tyr Uncertain significance Single submitter
- ATRIP p.His626Tyr Uncertain significance Single submitter
- ATRIP p.His728Tyr Uncertain significance Single submitter
- ATRIP p.His740Arg Uncertain significance Single submitter
- ATRIP p.His740Tyr Uncertain significance Single submitter
- ATRIP p.His746Pro Uncertain significance Single submitter
- ATRIP p.Ile427Ser Uncertain significance Single submitter
- ATRIP p.Leu124Phe Uncertain significance Single submitter
- ATRIP p.Leu156Pro Uncertain significance Single submitter
- ATRIP p.Leu165Phe Uncertain significance Single submitter
- ATRIP p.Leu174His Uncertain significance Single submitter
- ATRIP p.Leu174Phe Uncertain significance Single submitter
- ATRIP p.Leu316Phe Uncertain significance Single submitter
- ATRIP p.Leu332Phe Uncertain significance Single submitter
- ATRIP p.Leu345Met Uncertain significance Single submitter
- ATRIP p.Leu422Ile Uncertain significance Single submitter
- ATRIP p.Leu543Phe Uncertain significance Single submitter
All ATRIP variants
Likely pathogenic 1
- c.829+5G>T Single submitter Microcephalic Primordial Dwarfism with immunodeficiency
Conflicting classifications of pathogenicity 12
- p.Ala572= Single submitter
- p.Arg11Lys Single submitter ⚠
- p.Arg396Cys Single submitter ⚠
- p.Asp711Glu Single submitter ⚠
- p.Asp711Tyr Single submitter ⚠
- p.Met522Val Single submitter ⚠
- p.Pro671Ser Single submitter ⚠
- p.Ser239= Single submitter
- p.Ser82= Single submitter
- p.Thr451Ser Single submitter ⚠
- p.Thr766Met Single submitter ⚠
- p.Val106Ile Single submitter ⚠
Benign 16
- c.1882+22= Multiple submitters
- c.1975-150T>G Multiple submitters
- c.1975-17= Multiple submitters
- c.2056-12C>A Multiple submitters
- c.2056-8T>C Multiple submitters
- c.381+18T>C Multiple submitters
- c.-101C>G Multiple submitters
- c.-58G>C Multiple submitters
- p.Leu758= Multiple submitters
- p.Lys125Gln Multiple submitters
- p.Pro240Leu Multiple submitters ⚠
- c.1974+17C>T Single submitter
- c.2056-9dup Single submitter
- c.248-18T>A Single submitter
- c.248-246del Single submitter
- c.672-203= Single submitter
Benign/Likely benign 7
- p.Ala779= Multiple submitters
- p.Arg391Gln Multiple submitters
- p.Arg702Gln Multiple submitters
- p.Asp711Asn Multiple submitters ⚠
- p.Met739Leu Multiple submitters
- p.Phe112= Multiple submitters
- p.Phe37= Multiple submitters
Likely benign 329
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala478= Multiple submitters
- p.Ala614= Multiple submitters
- p.Ala778= Multiple submitters
- p.Arg405= Multiple submitters
- p.Arg702= Multiple submitters
- p.Arg721= Multiple submitters
- p.Asp397= Multiple submitters
- p.Asp80= Multiple submitters
- p.Gln319= Multiple submitters
- p.Gln651= Multiple submitters
- p.Gln73= Multiple submitters
- p.Glu649= Multiple submitters
- p.Gly27= Multiple submitters
- p.Gly349= Multiple submitters
- p.Gly8= Multiple submitters
- p.His515= Multiple submitters
- p.Leu174= Multiple submitters
- p.Leu312= Multiple submitters
- p.Leu375= Multiple submitters
- p.Leu422= Multiple submitters
- p.Leu495= Multiple submitters
- p.Leu513= Multiple submitters
- p.Leu542= Multiple submitters
- p.Leu619= Multiple submitters
- p.Leu66= Multiple submitters
- p.Leu745= Multiple submitters
- p.Phe253= Multiple submitters
- p.Pro15= Multiple submitters
- p.Pro218= Multiple submitters
- p.Pro240= Multiple submitters
- p.Pro786= Multiple submitters
- p.Ser154= Multiple submitters
- p.Ser254= Multiple submitters
- p.Ser339= Multiple submitters
- p.Ser475= Multiple submitters
- p.Ser678= Multiple submitters
- p.Thr152= Multiple submitters
- p.Thr562= Multiple submitters
- p.Thr691= Multiple submitters
- p.Thr723= Multiple submitters
- p.Tyr366= Multiple submitters
- p.Val701= Multiple submitters
- c.1745+14T>A Single submitter
- c.1745+14T>G Single submitter
- c.1746-11C>T Single submitter
- c.1746-4T>C Single submitter
- c.1882+17C>T Single submitter
- c.1882+18G>A Single submitter
- c.1882+9G>C Single submitter
- c.1883-11G>C Single submitter
- c.1883-16G>A Single submitter
- c.1974+8C>T Single submitter
- c.2055+14G>A Single submitter
- c.2055+16C>T Single submitter
- c.2055+8G>T Single submitter
- c.2056-10C>G Single submitter
- c.2056-11C>G Single submitter
- c.2056-20C>G Single submitter
- c.2056-6_2056-3del Single submitter
- c.2056-8del Single submitter
- c.2056-9C>A Single submitter
- c.2308+13G>C Single submitter
- c.2308+14A>C Single submitter
- c.247+19C>G Single submitter
- c.381+12_381+16del Single submitter
- c.671+20del Single submitter
- c.672-15G>A Single submitter
- c.829+13G>A Single submitter
- c.829+16A>G Single submitter
- c.925+13C>G Single submitter
- c.926-6C>T Single submitter
- c.926-7T>C Single submitter
- p.Ala17= Single submitter
- p.Ala212= Single submitter
- p.Ala216= Single submitter
- p.Ala217= Single submitter
- p.Ala255= Single submitter
- p.Ala374= Single submitter
- p.Ala416= Single submitter
- p.Ala42= Single submitter
- p.Ala491= Single submitter
- p.Ala51= Single submitter
- p.Ala525= Single submitter
- p.Ala6= Single submitter
- p.Ala606Thr Single submitter
- p.Ala614Val Single submitter ⚠
- p.Ala67= Single submitter
- p.Ala689= Single submitter
- p.Ala70= Single submitter
- p.Ala704= Single submitter
- p.Arg11= Single submitter
- p.Arg146= Single submitter
- p.Arg203= Single submitter
- p.Arg284Gly Single submitter
- p.Arg33= Single submitter
- p.Arg511= Single submitter
- p.Arg527= Single submitter
- p.Arg642= Single submitter
- p.Arg760= Single submitter
- p.Arg89= Single submitter
- p.Asn213= Single submitter
- p.Asn314= Single submitter
- p.Asn679= Single submitter
- p.Asn683= Single submitter
- p.Asp176= Single submitter
- p.Asp196= Single submitter
- p.Asp277Glu Single submitter
- p.Asp367= Single submitter
- p.Asp44= Single submitter
- p.Asp466= Single submitter
- p.Asp46Glu Single submitter
- p.Asp47= Single submitter
- p.Asp521= Single submitter
- p.Asp54= Single submitter
- p.Asp749= Single submitter
- p.Asp764= Single submitter
- p.Asp782= Single submitter
- p.Cys394= Single submitter
- p.Cys455= Single submitter
- p.Cys564= Single submitter
- p.Cys682= Single submitter
- p.Cys719= Single submitter
- p.Cys790= Single submitter
- p.Gln186= Single submitter
- p.Gln189= Single submitter
- p.Gln264= Single submitter
- p.Gln432= Single submitter
- p.Gln483= Single submitter
- p.Gln535= Single submitter
- p.Gln557= Single submitter
- p.Gln584= Single submitter
- p.Gln588Arg Single submitter
- p.Gln618Lys Single submitter
- p.Gln681= Single submitter
- p.Gln712= Single submitter
- p.Gln713= Single submitter
- p.Glu141= Single submitter
- p.Glu14Lys Single submitter ⚠
- p.Glu169= Single submitter
- p.Glu180= Single submitter
- p.Glu201= Single submitter
- p.Glu402= Single submitter
- p.Glu508= Single submitter
- p.Glu62= Single submitter
- p.Glu649Lys Single submitter ⚠
- p.Glu787= Single submitter
- p.Gly21= Single submitter
- p.Gly25Ser Single submitter
- p.Gly27Arg Single submitter
- p.Gly359Ser Single submitter
- p.Gly36= Single submitter
- p.Gly444= Single submitter
- p.Gly459= Single submitter
- p.Gly50= Single submitter
- p.Gly501= Single submitter
- p.Gly53= Single submitter
- p.Gly554= Single submitter
- p.Gly629= Single submitter
- p.Gly706= Single submitter
- p.Gly729Asp Single submitter
- p.Gly754= Single submitter
- p.Gly761= Single submitter
- p.Gly791Ser Single submitter
- p.His222= Single submitter
- p.His261Asp Single submitter
- p.His261Pro Single submitter
- p.His28= Single submitter
- p.His331= Single submitter
- p.His484= Single submitter
- p.His616= Single submitter
- p.His695= Single submitter
- p.His728= Single submitter
- p.His85Asp Single submitter
- p.Ile108Val Single submitter
- p.Ile142= Single submitter
- p.Ile144= Single submitter
- p.Ile288= Single submitter
- p.Ile427= Single submitter
- p.Leu114= Single submitter
- p.Leu124= Single submitter
- p.Leu145= Single submitter
- p.Leu149= Single submitter
- p.Leu156= Single submitter
- p.Leu165= Single submitter
- p.Leu283= Single submitter
- p.Leu315= Single submitter
- p.Leu316= Single submitter
- p.Leu333= Single submitter
- p.Leu345= Single submitter
- p.Leu381= Single submitter
- p.Leu386= Single submitter
- p.Leu388= Single submitter
- p.Leu410= Single submitter
- p.Leu413= Single submitter
- p.Leu437= Single submitter
- p.Leu471= Single submitter
- p.Leu482= Single submitter
- p.Leu485= Single submitter
- p.Leu496= Single submitter
- p.Leu497= Single submitter
- p.Leu517His Single submitter
- p.Leu517Phe Single submitter
- p.Leu526= Single submitter
- p.Leu526Pro Single submitter
- p.Leu539= Single submitter
- p.Leu590= Single submitter
- p.Leu594= Single submitter
- p.Leu600= Single submitter
- p.Leu605= Single submitter
- p.Leu609= Single submitter
- p.Leu610= Single submitter
- p.Leu612= Single submitter
- p.Leu613= Single submitter
- p.Leu623= Single submitter
- p.Leu632= Single submitter
- p.Leu635= Single submitter
- p.Leu648= Single submitter
- p.Leu648Ser Single submitter
- p.Leu653= Single submitter
- p.Leu655= Single submitter
- p.Leu662= Single submitter
- p.Leu672= Single submitter
- p.Leu699= Single submitter
- p.Leu720= Single submitter
- p.Leu726= Single submitter
- p.Leu727= Single submitter
- p.Leu730= Single submitter
- p.Leu736= Single submitter
- p.Leu773= Single submitter
- p.Leu90= Single submitter
- p.Lys125= Single submitter
- p.Lys177= Single submitter
- p.Lys179= Single submitter
- p.Lys183= Single submitter
- p.Lys214= Single submitter
- p.Lys279= Single submitter
- p.Lys289= Single submitter
- p.Lys441Gln Single submitter
- p.Lys540= Single submitter
- p.Lys566= Single submitter
- p.Met738Ile Single submitter
- p.Met738Thr Single submitter
- p.Phe297Leu Single submitter
- p.Phe49= Single submitter
- p.Phe587Leu Single submitter
- p.Pro16= Single submitter
- p.Pro20= Single submitter
- p.Pro22= Single submitter
- p.Pro23= Single submitter
- p.Pro24= Single submitter
- p.Pro260= Single submitter
- p.Pro271Ser Single submitter
- p.Pro280= Single submitter
- p.Pro280Thr Single submitter
- p.Pro29= Single submitter
- p.Pro344= Single submitter
- p.Pro344Leu Single submitter
- p.Pro348= Single submitter
- p.Pro400= Single submitter
- p.Pro421= Single submitter
- p.Pro43= Single submitter
- p.Pro446= Single submitter
- p.Pro450= Single submitter
- p.Pro48= Single submitter
- p.Pro537= Single submitter
- p.Pro596= Single submitter
- p.Pro599= Single submitter
- p.Pro708= Single submitter
- p.Pro75= Single submitter
- p.Ser190= Single submitter
- p.Ser252= Single submitter
- p.Ser278Asn Single submitter ⚠
- p.Ser326= Single submitter
- p.Ser334= Single submitter
- p.Ser335= Single submitter
- p.Ser337= Single submitter
- p.Ser352= Single submitter
- p.Ser365= Single submitter
- p.Ser373= Single submitter
- p.Ser395= Single submitter
- p.Ser443= Single submitter
- p.Ser449= Single submitter
- p.Ser449Leu Single submitter
- p.Ser453Phe Single submitter ⚠
- p.Ser559= Single submitter
- p.Ser602= Single submitter
- p.Ser602Gly Single submitter ⚠
- p.Ser731= Single submitter
- p.Ser83= Single submitter
- p.Ser83Asn Single submitter ⚠
- p.Ser95= Single submitter
- p.Thr208= Single submitter
- p.Thr208Ser Single submitter
- p.Thr245Pro Single submitter
- p.Thr26= Single submitter
- p.Thr307Ile Single submitter
- p.Thr343= Single submitter
- p.Thr353= Single submitter
- p.Thr362= Single submitter
- p.Thr598= Single submitter
Uncertain significance 753
Showing the top 300 by review status; the full set is in the sitemap.
- c.1974+2dup Multiple submitters
- p.Ala119Thr Multiple submitters ⚠
- p.Ala173Val Multiple submitters ⚠
- p.Ala374Thr Multiple submitters ⚠
- p.Ala374Val Multiple submitters ⚠
- p.Ala390Ser Multiple submitters ⚠
- p.Ala552Thr Multiple submitters ⚠
- p.Ala606Val Multiple submitters ⚠
- p.Ala620Val Multiple submitters ⚠
- p.Ala704Thr Multiple submitters ⚠
- p.Ala779Val Multiple submitters ⚠
- p.Arg11Thr Multiple submitters ⚠
- p.Arg226Lys Multiple submitters ⚠
- p.Arg391Trp Multiple submitters ⚠
- p.Arg396His Multiple submitters ⚠
- p.Arg527Ser Multiple submitters ⚠
- p.Arg582Gly Multiple submitters ⚠
- p.Arg642Gln Multiple submitters ⚠
- p.Arg642Trp Multiple submitters ⚠
- p.Arg715Gln Multiple submitters ⚠
- p.Arg715Trp Multiple submitters ⚠
- p.Arg718His Multiple submitters ⚠
- p.Arg721Trp Multiple submitters ⚠
- p.Asn392Ser Multiple submitters ⚠
- p.Asp399His Multiple submitters ⚠
- p.Asp578Ala Multiple submitters ⚠
- p.Asp58Glu Multiple submitters ⚠
- p.Asp617Asn Multiple submitters ⚠
- p.Asp722Asn Multiple submitters ⚠
- p.Asp782Asn Multiple submitters ⚠
- p.Asp80Glu Multiple submitters ⚠
- p.Cys680Ser Multiple submitters ⚠
- p.Cys719Arg Multiple submitters ⚠
- p.Cys768Gly Multiple submitters ⚠
- p.Gln151Glu Multiple submitters ⚠
- p.Gln172Arg Multiple submitters ⚠
- p.Gln264Glu Multiple submitters ⚠
- p.Gln681His Multiple submitters ⚠
- p.Gln73Ter Multiple submitters
- p.Glu113Lys Multiple submitters ⚠
- p.Glu133Gly Multiple submitters ⚠
- p.Glu134del Multiple submitters
- p.Glu573Lys Multiple submitters ⚠
- p.Glu61Lys Multiple submitters ⚠
- p.Glu685= Multiple submitters
- p.Glu787Arg Multiple submitters
- p.Glu787Lys Multiple submitters ⚠
- p.Gly444Arg Multiple submitters ⚠
- p.Gly706Val Multiple submitters ⚠
- p.Gly761Arg Multiple submitters ⚠
- p.His163Arg Multiple submitters ⚠
- p.His261Gln Multiple submitters ⚠
- p.His52Arg Multiple submitters ⚠
- p.Leu165Val Multiple submitters ⚠
- p.Leu496_Leu497del Multiple submitters
- p.Leu542Phe Multiple submitters ⚠
- p.Leu546Trp Multiple submitters ⚠
- p.Leu634_Leu635del Multiple submitters
- p.Leu66Phe Multiple submitters ⚠
- p.Leu690Phe Multiple submitters ⚠
- p.Leu736Pro Multiple submitters ⚠
- p.Lys665Arg Multiple submitters ⚠
- p.Met738Val Multiple submitters ⚠
- p.Phe242Leu Multiple submitters ⚠
- p.Phe297Val Multiple submitters ⚠
- p.Pro20Ser Multiple submitters ⚠
- p.Pro218Ala Multiple submitters ⚠
- p.Pro235Leu Multiple submitters ⚠
- p.Pro30Ser Multiple submitters ⚠
- p.Pro340Leu Multiple submitters ⚠
- p.Pro409Leu Multiple submitters
- p.Pro43Thr Multiple submitters ⚠
- p.Pro643Leu Multiple submitters ⚠
- p.Pro673Leu Multiple submitters ⚠
- p.Pro753Leu Multiple submitters ⚠
- p.Pro763His Multiple submitters ⚠
- p.Pro98Leu Multiple submitters ⚠
- p.Ser230Pro Multiple submitters ⚠
- p.Ser278Arg Multiple submitters ⚠
- p.Ser278Thr Multiple submitters ⚠
- p.Ser300Asn Multiple submitters ⚠
- p.Ser31Arg Multiple submitters ⚠
- p.Ser31fs Multiple submitters
- p.Ser358Leu Multiple submitters ⚠
- p.Ser371Cys Multiple submitters ⚠
- p.Ser670Asn Multiple submitters ⚠
- p.Ser68Leu Multiple submitters ⚠
- p.Ser731Leu Multiple submitters ⚠
- p.Thr249Ala Multiple submitters ⚠
- p.Thr265= Multiple submitters
- p.Thr265Met Multiple submitters ⚠
- p.Thr353Ser Multiple submitters ⚠
- p.Thr384_Gly385insTer Multiple submitters
- p.Thr523Asn Multiple submitters ⚠
- p.Thr523Pro Multiple submitters ⚠
- p.Thr562Asn Multiple submitters ⚠
- p.Thr691Met Multiple submitters ⚠
- p.Trp652Arg Multiple submitters ⚠
- p.Val155Phe Multiple submitters ⚠
- p.Val493Ile Multiple submitters ⚠
- p.Val569Leu Multiple submitters ⚠
- p.Val603Met Multiple submitters ⚠
- p.Val646Met Multiple submitters ⚠
- p.Val692Met Multiple submitters ⚠
- p.Val717Ala Multiple submitters ⚠
- p.Val744Phe Multiple submitters ⚠
- c.1056-18_1056-15del Single submitter
- c.1056-2A>T Single submitter
- c.1056-5G>C Single submitter
- c.1745+3A>G Single submitter
- c.1745+5_1745+6insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCGTGATCCGCCCGCCTCGGCCTTCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCTTGCCCAGGTATT Single submitter
- c.1746-1G>A Single submitter
- c.1883-2A>G Single submitter
- c.1883-6T>C Single submitter
- c.1974+1G>A Single submitter
- c.2309-1G>A Single submitter
- c.2309-3C>T Single submitter
- c.247+3del Single submitter
- c.248-3C>T Single submitter
- c.382-3C>T Single submitter
- c.672-3C>A Single submitter
- c.829+1G>C Single submitter
- c.926-3C>T Single submitter
- c.926-5T>C Single submitter
- c.-1C>T Single submitter
- p.Ala173Thr Single submitter ⚠
- p.Ala197Glu Single submitter ⚠
- p.Ala197Ser Single submitter ⚠
- p.Ala212Pro Single submitter ⚠
- p.Ala216Val Single submitter ⚠
- p.Ala237Val Single submitter ⚠
- p.Ala293Asp Single submitter ⚠
- p.Ala2Gly Single submitter ⚠
- p.Ala2Pro Single submitter ⚠
- p.Ala34Ser Single submitter ⚠
- p.Ala34Thr Single submitter ⚠
- p.Ala355Ser Single submitter ⚠
- p.Ala374fs Single submitter
- p.Ala378Thr Single submitter ⚠
- p.Ala390Val Single submitter ⚠
- p.Ala39Ser Single submitter ⚠
- p.Ala401Thr Single submitter ⚠
- p.Ala407Asp Single submitter ⚠
- p.Ala41Val Single submitter ⚠
- p.Ala42Asp Single submitter ⚠
- p.Ala42Thr Single submitter ⚠
- p.Ala433Val Single submitter ⚠
- p.Ala439Ser Single submitter ⚠
- p.Ala439Thr Single submitter ⚠
- p.Ala445Glu Single submitter ⚠
- p.Ala445Thr Single submitter ⚠
- p.Ala445Val Single submitter ⚠
- p.Ala478Thr Single submitter ⚠
- p.Ala478Val Single submitter ⚠
- p.Ala491Gly Single submitter ⚠
- p.Ala502Glu Single submitter ⚠
- p.Ala502Thr Single submitter ⚠
- p.Ala505Thr Single submitter ⚠
- p.Ala51Ser Single submitter ⚠
- p.Ala525Val Single submitter ⚠
- p.Ala530Thr Single submitter ⚠
- p.Ala547Asp Single submitter ⚠
- p.Ala547Val Single submitter ⚠
- p.Ala551Glu Single submitter ⚠
- p.Ala551Val Single submitter ⚠
- p.Ala552Val Single submitter ⚠
- p.Ala558Asp Single submitter ⚠
- p.Ala558Gly Single submitter ⚠
- p.Ala572Asp Single submitter ⚠
- p.Ala57Thr Single submitter ⚠
- p.Ala57Val Single submitter ⚠
- p.Ala614Ser Single submitter ⚠
- p.Ala647Val Single submitter ⚠
- p.Ala664Thr Single submitter ⚠
- p.Ala67Thr Single submitter ⚠
- p.Ala689Gly Single submitter ⚠
- p.Ala689Val Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Ala704Gly Single submitter ⚠
- p.Ala70Thr Single submitter ⚠
- p.Ala772Val Single submitter ⚠
- p.Ala778Gly Single submitter ⚠
- p.Ala778Val Single submitter ⚠
- p.Ala779Ser Single submitter ⚠
- p.Ala779Thr Single submitter ⚠
- p.Ala77Pro Single submitter ⚠
- p.Ala77Thr Single submitter ⚠
- p.Arg12Pro Single submitter ⚠
- p.Arg12Trp Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg146Gly Single submitter ⚠
- p.Arg146Pro Single submitter ⚠
- p.Arg146Ter Single submitter
- p.Arg160fs Single submitter
- p.Arg160Lys Single submitter ⚠
- p.Arg161del Single submitter
- p.Arg161Gly Single submitter ⚠
- p.Arg19His Single submitter ⚠
- p.Arg19Leu Single submitter ⚠
- p.Arg203Ser Single submitter ⚠
- p.Arg302Lys Single submitter ⚠
- p.Arg304Gly Single submitter ⚠
- p.Arg304Ser Single submitter ⚠
- p.Arg304Thr Single submitter ⚠
- p.Arg33Gln Single submitter ⚠
- p.Arg33Pro Single submitter ⚠
- p.Arg35Gln Single submitter ⚠
- p.Arg35Leu Single submitter ⚠
- p.Arg35Trp Single submitter ⚠
- p.Arg361Ser Single submitter ⚠
- p.Arg391Leu Single submitter ⚠
- p.Arg396Ser Single submitter ⚠
- p.Arg405Thr Single submitter ⚠
- p.Arg406Lys Single submitter ⚠
- p.Arg511Ser Single submitter ⚠
- p.Arg527Lys Single submitter ⚠
- p.Arg645Thr Single submitter ⚠
- p.Arg702Gly Single submitter ⚠
- p.Arg702Trp Single submitter ⚠
- p.Arg703Lys Single submitter ⚠
- p.Arg709Gly Single submitter ⚠
- p.Arg718Cys Single submitter ⚠
- p.Arg721Gln Single submitter ⚠
- p.Arg760Gln Single submitter ⚠
- p.Arg79Gly Single submitter ⚠
- p.Arg79Pro Single submitter ⚠
- p.Arg79Trp Single submitter ⚠
- p.Asn102Asp Single submitter ⚠
- p.Asn102Ile Single submitter ⚠
- p.Asn102Ser Single submitter ⚠
- p.Asn111Asp Single submitter ⚠
- p.Asn111Ile Single submitter ⚠
- p.Asn111Thr Single submitter ⚠
- p.Asn139Ser Single submitter ⚠
- p.Asn213Asp Single submitter ⚠
- p.Asn213fs Single submitter
- p.Asn256Asp Single submitter ⚠
- p.Asn314fs Single submitter
- p.Asn387Ser Single submitter ⚠
- p.Asn510Asp Single submitter ⚠
- p.Asn510Lys Single submitter ⚠
- p.Asn679Lys Single submitter ⚠
- p.Asn97fs Single submitter
- p.Asn97Ser Single submitter ⚠
- p.Asn97Tyr Single submitter ⚠
- p.Asp110Glu Single submitter ⚠
- p.Asp176Asn Single submitter ⚠
- p.Asp196Glu Single submitter ⚠
- p.Asp196Tyr Single submitter ⚠
- p.Asp367Asn Single submitter ⚠
- p.Asp367Gly Single submitter ⚠
- p.Asp367His Single submitter ⚠
- p.Asp367Tyr Single submitter ⚠
- p.Asp397Ala Single submitter ⚠
- p.Asp397Tyr Single submitter ⚠
- p.Asp399Glu Single submitter ⚠
- p.Asp436Gly Single submitter ⚠
- p.Asp448Asn Single submitter ⚠
- p.Asp448Tyr Single submitter ⚠
- p.Asp44Ala Single submitter ⚠
- p.Asp44Glu Single submitter ⚠
- p.Asp46_Asp47insProAsp Single submitter
- p.Asp46His Single submitter ⚠
- p.Asp47His Single submitter ⚠
- p.Asp532Glu Single submitter ⚠
- p.Asp615Asn Single submitter ⚠
- p.Asp734Glu Single submitter ⚠
- p.Asp749Glu Single submitter ⚠
- p.Asp749Gly Single submitter ⚠
- p.Asp767Ala Single submitter ⚠
- p.Asp782His Single submitter ⚠
- p.Asp785fs Single submitter
- p.Asp80Val Single submitter ⚠
- p.Cys394Ser Single submitter ⚠
- p.Cys431Tyr Single submitter ⚠
- p.Cys455Tyr Single submitter ⚠
- p.Cys469Tyr Single submitter ⚠
- p.Cys577Tyr Single submitter ⚠
- p.Cys585Tyr Single submitter ⚠
- p.Cys593Tyr Single submitter ⚠
- p.Cys682Tyr Single submitter ⚠
- p.Cys719Ser Single submitter ⚠
- p.Cys741Tyr Single submitter ⚠
- p.Cys74Arg Single submitter ⚠
- p.Cys768Arg Single submitter ⚠
- p.Cys768Tyr Single submitter ⚠
- p.Cys777Arg Single submitter ⚠
- p.Cys790Gly Single submitter ⚠
- p.Cys790Ser Single submitter ⚠
- p.Gln118Glu Single submitter ⚠
- p.Gln118Ter Single submitter
- p.Gln120Lys Single submitter ⚠
- p.Gln151Arg Single submitter ⚠
- p.Gln151Lys Single submitter ⚠
- p.Gln159Arg Single submitter ⚠
- p.Gln193Leu Single submitter ⚠
- p.Gln241Glu Single submitter ⚠
- p.Gln290= Single submitter
- p.Gln290Pro Single submitter ⚠
- p.Gln294His Single submitter ⚠