RINT1 — 1756 ClinVar variants
All ClinVar germline RINT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1036 flagged for review →
24 Pathogenic · 16 Likely pathogenic · 64 Conflicting · 15 Benign · 8 Benign/Likely benign · 475 Likely benign · 1154 Uncertain significance
Full RINT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 1036
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 38
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RINT1 p.Ala130Thr
Conflicting
Single submitter
infantile liver failure syndrome 3
- RINT1 p.Ala245Thr Conflicting Single submitter
- RINT1 p.Ala245Val Conflicting Single submitter
-
RINT1 p.Arg104Gln
Conflicting
Single submitter
hereditary breast ovarian cancer syndrome
- RINT1 p.Arg23Lys Conflicting Single submitter
- RINT1 p.Arg256Gln Conflicting Single submitter
- RINT1 p.Arg256Gly Conflicting Single submitter
- RINT1 p.Arg722Lys Conflicting Single submitter
- RINT1 p.Asn109Ser Conflicting Single submitter
-
RINT1 p.Asn396Ser
Conflicting
Single submitter
infantile liver failure syndrome 3
- RINT1 p.Asn574Thr Conflicting Single submitter
- RINT1 p.Asp144Asn Conflicting Single submitter
- RINT1 p.Asp21Asn Conflicting Single submitter
- RINT1 p.Asp21Glu Conflicting Single submitter
- RINT1 p.Cys720Tyr Conflicting Single submitter
- RINT1 p.Gln167His Conflicting Single submitter
- RINT1 p.Gln42His Conflicting Single submitter
- RINT1 p.Glu507Lys Conflicting Single submitter
- RINT1 p.Gly211Ala Conflicting Single submitter
- RINT1 p.Gly46Asp Conflicting Single submitter
- RINT1 p.His126Tyr Conflicting Single submitter
- RINT1 p.His658Arg Conflicting Single submitter
- RINT1 p.Ile730Val Conflicting Single submitter
-
RINT1 p.Leu341Val
Conflicting
Single submitter
thyroid cancer, nonmedullary, 1
- RINT1 p.Lys73Asn Conflicting Single submitter
- RINT1 p.Phe674Ser Conflicting Single submitter
- RINT1 p.Pro14Leu Conflicting Single submitter
- RINT1 p.Pro261Leu Conflicting Single submitter
-
RINT1 p.Ser10Tyr
Conflicting
Single submitter
infantile liver failure syndrome 3
-
RINT1 p.Ser150Arg
Conflicting
Single submitter
hereditary breast ovarian cancer syndrome
- RINT1 p.Ser462Leu Conflicting Single submitter
- RINT1 p.Ser84Asn Conflicting Single submitter
- RINT1 p.Thr94Arg Conflicting Single submitter
- RINT1 p.Tyr719Cys Conflicting Single submitter
-
RINT1 p.Val679Ala
Conflicting
Single submitter
hereditary breast ovarian cancer syndrome
- RINT1 p.Val684Ile Conflicting Single submitter
- RINT1 p.Val741Ile Conflicting Single submitter
- RINT1 p.Val83Ile Conflicting Single submitter
Predictors lean, ClinVar uncertain 827
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 827
- RINT1 p.Ala138Thr Uncertain significance Multiple submitters
- RINT1 p.Ala13Val Uncertain significance Multiple submitters
- RINT1 p.Ala188Ser Uncertain significance Multiple submitters
- RINT1 p.Ala195Thr Uncertain significance Multiple submitters
- RINT1 p.Ala499Thr Uncertain significance Multiple submitters
- RINT1 p.Ala499Val Uncertain significance Multiple submitters
- RINT1 p.Ala538Thr Uncertain significance Multiple submitters
- RINT1 p.Ala566Thr Uncertain significance Multiple submitters
- RINT1 p.Ala566Val Uncertain significance Multiple submitters
- RINT1 p.Ala571Pro Uncertain significance Multiple submitters
- RINT1 p.Ala585Thr Uncertain significance Multiple submitters
- RINT1 p.Ala763Val Uncertain significance Multiple submitters
- RINT1 p.Ala773Val Uncertain significance Multiple submitters
- RINT1 p.Arg104Gly Uncertain significance Multiple submitters
- RINT1 p.Arg157Cys Uncertain significance Multiple submitters
- RINT1 p.Arg157His Uncertain significance Multiple submitters
- RINT1 p.Arg256Pro Uncertain significance Multiple submitters
- RINT1 p.Arg318Ser Uncertain significance Multiple submitters
- RINT1 p.Arg325Gln Uncertain significance Multiple submitters
- RINT1 p.Arg325Trp Uncertain significance Multiple submitters
- RINT1 p.Arg374Gln Uncertain significance Multiple submitters
- RINT1 p.Arg410Met Uncertain significance Multiple submitters
- RINT1 p.Arg437Lys Uncertain significance Multiple submitters
- RINT1 p.Arg492Ser Uncertain significance Multiple submitters
- RINT1 p.Arg501Gln Uncertain significance Multiple submitters
- RINT1 p.Arg535Gln Uncertain significance Multiple submitters
- RINT1 p.Arg601Cys Uncertain significance Multiple submitters
- RINT1 p.Arg601His Uncertain significance Multiple submitters
- RINT1 p.Arg609Cys Uncertain significance Multiple submitters
- RINT1 p.Arg609His Uncertain significance Multiple submitters
- RINT1 p.Arg616Lys Uncertain significance Multiple submitters
- RINT1 p.Arg656Gln Uncertain significance Multiple submitters
- RINT1 p.Arg710Gln Uncertain significance Multiple submitters
- RINT1 p.Arg710Trp Uncertain significance Multiple submitters
- RINT1 p.Arg784Ser Uncertain significance Multiple submitters
- RINT1 p.Arg81Trp Uncertain significance Multiple submitters
- RINT1 p.Asn33His Uncertain significance Multiple submitters
- RINT1 p.Asn49Tyr Uncertain significance Multiple submitters
- RINT1 p.Asn556Ser Uncertain significance Multiple submitters
- RINT1 p.Asn573Lys Uncertain significance Multiple submitters
- RINT1 p.Asn697Ser Uncertain significance Multiple submitters
- RINT1 p.Asn738Asp Uncertain significance Multiple submitters
- RINT1 p.Asn740Lys Uncertain significance Multiple submitters
- RINT1 p.Asn786His Uncertain significance Multiple submitters
- RINT1 p.Asp143Asn Uncertain significance Multiple submitters
- RINT1 p.Asp173Gly Uncertain significance Multiple submitters
- RINT1 p.Asp198Asn Uncertain significance Multiple submitters
- RINT1 p.Asp352Gly Uncertain significance Multiple submitters
- RINT1 p.Asp352Val Uncertain significance Multiple submitters
- RINT1 p.Asp469Asn Uncertain significance Multiple submitters
- RINT1 p.Asp469Glu Uncertain significance Multiple submitters
- RINT1 p.Asp48Val Uncertain significance Multiple submitters
- RINT1 p.Asp511Gly Uncertain significance Multiple submitters
- RINT1 p.Asp620Glu Uncertain significance Multiple submitters
- RINT1 p.Asp620Val Uncertain significance Multiple submitters
- RINT1 p.Asp657Glu Uncertain significance Multiple submitters
-
RINT1 p.Cys272Arg
Uncertain significance
Multiple submitters
hereditary breast ovarian cancer syndrome
- RINT1 p.Cys478Phe Uncertain significance Multiple submitters
- RINT1 p.Cys537Ser Uncertain significance Multiple submitters
- RINT1 p.Cys720Trp Uncertain significance Multiple submitters
- RINT1 p.Cys734Arg Uncertain significance Multiple submitters
- RINT1 p.Gln151Glu Uncertain significance Multiple submitters
- RINT1 p.Gln202Lys Uncertain significance Multiple submitters
- RINT1 p.Gln248Glu Uncertain significance Multiple submitters
- RINT1 p.Gln289Arg Uncertain significance Multiple submitters
- RINT1 p.Gln289Pro Uncertain significance Multiple submitters
- RINT1 p.Gln326Arg Uncertain significance Multiple submitters
- RINT1 p.Gln509His Uncertain significance Multiple submitters
- RINT1 p.Gln563Pro Uncertain significance Multiple submitters
- RINT1 p.Gln583His Uncertain significance Multiple submitters
- RINT1 p.Gln639His Uncertain significance Multiple submitters
- RINT1 p.Gln665Arg Uncertain significance Multiple submitters
- RINT1 p.Gln676Glu Uncertain significance Multiple submitters
- RINT1 p.Gln703His Uncertain significance Multiple submitters
- RINT1 p.Gln774Arg Uncertain significance Multiple submitters
- RINT1 p.Gln774Glu Uncertain significance Multiple submitters
- RINT1 p.Gln91Lys Uncertain significance Multiple submitters
- RINT1 p.Glu111Lys Uncertain significance Multiple submitters
- RINT1 p.Glu112Val Uncertain significance Multiple submitters
- RINT1 p.Glu156Gln Uncertain significance Multiple submitters
- RINT1 p.Glu156Lys Uncertain significance Multiple submitters
- RINT1 p.Glu203Asp Uncertain significance Multiple submitters
- RINT1 p.Glu262Asp Uncertain significance Multiple submitters
- RINT1 p.Glu262Gln Uncertain significance Multiple submitters
- RINT1 p.Glu268Asp Uncertain significance Multiple submitters
- RINT1 p.Glu286Gly Uncertain significance Multiple submitters
- RINT1 p.Glu28Asp Uncertain significance Multiple submitters
- RINT1 p.Glu431Lys Uncertain significance Multiple submitters
- RINT1 p.Glu442Gln Uncertain significance Multiple submitters
- RINT1 p.Glu6Gly Uncertain significance Multiple submitters
- RINT1 p.Glu778Asp Uncertain significance Multiple submitters
- RINT1 p.Glu98Asp Uncertain significance Multiple submitters
- RINT1 p.Gly363Asp Uncertain significance Multiple submitters
- RINT1 p.Gly375Ala Uncertain significance Multiple submitters
- RINT1 p.Gly533Ser Uncertain significance Multiple submitters
- RINT1 p.Gly791Arg Uncertain significance Multiple submitters
- RINT1 p.Gly8Ser Uncertain significance Multiple submitters
- RINT1 p.His126Arg Uncertain significance Multiple submitters
- RINT1 p.His134Arg Uncertain significance Multiple submitters
- RINT1 p.His208Leu Uncertain significance Multiple submitters
-
RINT1 p.His416Tyr
Uncertain significance
Multiple submitters
hereditary breast ovarian cancer syndrome
- RINT1 p.His427Arg Uncertain significance Multiple submitters
-
RINT1 p.His613Asn
Uncertain significance
Multiple submitters
infantile liver failure syndrome 3
- RINT1 p.His613Tyr Uncertain significance Multiple submitters
- RINT1 p.His695Arg Uncertain significance Multiple submitters
- RINT1 p.His695Gln Uncertain significance Multiple submitters
- RINT1 p.His718Asp Uncertain significance Multiple submitters
- RINT1 p.Ile152Thr Uncertain significance Multiple submitters
- RINT1 p.Ile152Val Uncertain significance Multiple submitters
- RINT1 p.Ile155Leu Uncertain significance Multiple submitters
- RINT1 p.Ile155Met Uncertain significance Multiple submitters
- RINT1 p.Ile168Thr Uncertain significance Multiple submitters
- RINT1 p.Ile199Val Uncertain significance Multiple submitters
- RINT1 p.Ile32Val Uncertain significance Multiple submitters
- RINT1 p.Ile388Thr Uncertain significance Multiple submitters
- RINT1 p.Ile38Thr Uncertain significance Multiple submitters
- RINT1 p.Ile539Val Uncertain significance Multiple submitters
- RINT1 p.Ile60Val Uncertain significance Multiple submitters
- RINT1 p.Ile686Leu Uncertain significance Multiple submitters
- RINT1 p.Ile690Val Uncertain significance Multiple submitters
- RINT1 p.Ile779Phe Uncertain significance Multiple submitters
- RINT1 p.Ile95Val Uncertain significance Multiple submitters
-
RINT1 p.Leu107Val
Uncertain significance
Multiple submitters
infantile liver failure syndrome 3
- RINT1 p.Leu135Val Uncertain significance Multiple submitters
- RINT1 p.Leu145Pro Uncertain significance Multiple submitters
- RINT1 p.Leu197Val Uncertain significance Multiple submitters
- RINT1 p.Leu209Pro Uncertain significance Multiple submitters
- RINT1 p.Leu210His Uncertain significance Multiple submitters
- RINT1 p.Leu210Val Uncertain significance Multiple submitters
- RINT1 p.Leu224Val Uncertain significance Multiple submitters
- RINT1 p.Leu26Phe Uncertain significance Multiple submitters
- RINT1 p.Leu274Phe Uncertain significance Multiple submitters
- RINT1 p.Leu284Ile Uncertain significance Multiple submitters
- RINT1 p.Leu284Val Uncertain significance Multiple submitters
- RINT1 p.Leu2Pro Uncertain significance Multiple submitters
- RINT1 p.Leu310Val Uncertain significance Multiple submitters
- RINT1 p.Leu370Ile Uncertain significance Multiple submitters
- RINT1 p.Leu379Val Uncertain significance Multiple submitters
- RINT1 p.Leu401Phe Uncertain significance Multiple submitters
-
RINT1 p.Leu406Ile
Uncertain significance
Multiple submitters
infantile liver failure syndrome 3
- RINT1 p.Leu406Pro Uncertain significance Multiple submitters
-
RINT1 p.Leu429Ile
Uncertain significance
Multiple submitters
infantile liver failure syndrome 3
-
RINT1 p.Leu447Phe
Uncertain significance
Multiple submitters
infantile liver failure syndrome 3
- RINT1 p.Leu447Val Uncertain significance Multiple submitters
- RINT1 p.Leu486Ile Uncertain significance Multiple submitters
-
RINT1 p.Leu512Phe
Uncertain significance
Multiple submitters
infantile liver failure syndrome 3
- RINT1 p.Leu532Phe Uncertain significance Multiple submitters
- RINT1 p.Leu550Pro Uncertain significance Multiple submitters
- RINT1 p.Leu576Pro Uncertain significance Multiple submitters
- RINT1 p.Leu660Phe Uncertain significance Multiple submitters
Predictors split 171
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 171
- RINT1 p.Ala446Gly Uncertain significance Multiple submitters
- RINT1 p.Ala585Asp Uncertain significance Multiple submitters
- RINT1 p.Arg656Gly Uncertain significance Multiple submitters
- RINT1 p.Asn541Asp Uncertain significance Multiple submitters
- RINT1 p.Asn740Ile Uncertain significance Multiple submitters
- RINT1 p.Asp469His Uncertain significance Multiple submitters
-
RINT1 p.Asp477His
Uncertain significance
Multiple submitters
infantile liver failure syndrome 3
- RINT1 p.Asp552His Uncertain significance Multiple submitters
- RINT1 p.Cys434Arg Uncertain significance Multiple submitters
-
RINT1 p.Cys537Arg
Uncertain significance
Multiple submitters
infantile liver failure syndrome 3
- RINT1 p.Cys537Tyr Uncertain significance Multiple submitters
- RINT1 p.Gln176His Uncertain significance Multiple submitters
- RINT1 p.Gln752Pro Uncertain significance Multiple submitters
- RINT1 p.Glu169Lys Uncertain significance Multiple submitters
- RINT1 p.His208Asp Uncertain significance Multiple submitters
- RINT1 p.Ile428Ser Uncertain significance Multiple submitters
- RINT1 p.Ile779Thr Uncertain significance Multiple submitters
- RINT1 p.Ile78Thr Uncertain significance Multiple submitters
- RINT1 p.Leu567Pro Uncertain significance Multiple submitters
- RINT1 p.Leu584Arg Uncertain significance Multiple submitters
- RINT1 p.Leu584Gln Uncertain significance Multiple submitters
- RINT1 p.Leu662Ser Likely benign Multiple submitters
- RINT1 p.Lys315Asn Uncertain significance Multiple submitters
- RINT1 p.Met453Lys Uncertain significance Multiple submitters
- RINT1 p.Met473Ile Uncertain significance Multiple submitters
- RINT1 p.Met483Ile Uncertain significance Multiple submitters
- RINT1 p.Met587Thr Uncertain significance Multiple submitters
- RINT1 p.Met606Ile Uncertain significance Multiple submitters
- RINT1 p.Phe219Leu Uncertain significance Multiple submitters
- RINT1 p.Phe350Leu Uncertain significance Multiple submitters
- RINT1 p.Phe435Leu Uncertain significance Multiple submitters
- RINT1 p.Phe445Leu Uncertain significance Multiple submitters
- RINT1 p.Phe482Leu Uncertain significance Multiple submitters
- RINT1 p.Phe727Leu Uncertain significance Multiple submitters
- RINT1 p.Pro140Leu Uncertain significance Multiple submitters
- RINT1 p.Ser205Phe Uncertain significance Multiple submitters
- RINT1 p.Ser424Cys Uncertain significance Multiple submitters
- RINT1 p.Ser577Arg Uncertain significance Multiple submitters
- RINT1 p.Ser646Cys Uncertain significance Multiple submitters
-
RINT1 p.Ser647Leu
Uncertain significance
Multiple submitters
infantile liver failure syndrome 3
- RINT1 p.Thr137Pro Uncertain significance Multiple submitters
- RINT1 p.Thr484Ile Uncertain significance Multiple submitters
- RINT1 p.Thr521Ile Uncertain significance Multiple submitters
- RINT1 p.Trp141Arg Uncertain significance Multiple submitters
- RINT1 p.Tyr464Cys Uncertain significance Multiple submitters
- RINT1 p.Val217Phe Uncertain significance Multiple submitters
- RINT1 p.Val488Phe Uncertain significance Multiple submitters
- RINT1 p.Val591Leu Uncertain significance Multiple submitters
- RINT1 p.Ala138Pro Uncertain significance Single submitter
- RINT1 p.Ala160Pro Uncertain significance Single submitter
- RINT1 p.Ala187Val Uncertain significance Single submitter
-
RINT1 p.Ala368Thr
Uncertain significance
Single submitter
infantile liver failure syndrome 3
- RINT1 p.Ala458Pro Uncertain significance Single submitter
- RINT1 p.Ala459Gly Uncertain significance Single submitter
- RINT1 p.Ala479Val Uncertain significance Single submitter
- RINT1 p.Arg214Ser Uncertain significance Single submitter
- RINT1 p.Arg369Trp Uncertain significance Single submitter
- RINT1 p.Arg437Ile Uncertain significance Single submitter
- RINT1 p.Arg629Ser Uncertain significance Single submitter
- RINT1 p.Arg656Leu Uncertain significance Single submitter
- RINT1 p.Arg722Ile Uncertain significance Single submitter
- RINT1 p.Asn694His Uncertain significance Single submitter
- RINT1 p.Asp198His Uncertain significance Single submitter
- RINT1 p.Asp403Glu Uncertain significance Single submitter
- RINT1 p.Asp471Asn Uncertain significance Single submitter
- RINT1 p.Asp514His Uncertain significance Single submitter
- RINT1 p.Asp555Glu Uncertain significance Single submitter
- RINT1 p.Asp594Asn Uncertain significance Single submitter
- RINT1 p.Asp605Val Uncertain significance Single submitter
- RINT1 p.Asp75Tyr Uncertain significance Single submitter
- RINT1 p.Cys399Arg Uncertain significance Single submitter
- RINT1 p.Cys399Tyr Uncertain significance Single submitter
- RINT1 p.Cys649Trp Uncertain significance Single submitter
- RINT1 p.Gln123Pro Uncertain significance Single submitter
- RINT1 p.Gln176Arg Uncertain significance Single submitter
- RINT1 p.Gln176Lys Uncertain significance Single submitter
- RINT1 p.Gln273Pro Uncertain significance Single submitter
- RINT1 p.Gln326His Uncertain significance Single submitter
- RINT1 p.Gln522His Uncertain significance Single submitter
- RINT1 p.Glu268Gly Uncertain significance Single submitter
- RINT1 p.Glu268Lys Uncertain significance Single submitter
- RINT1 p.Glu334Asp Uncertain significance Single submitter
- RINT1 p.Glu457Lys Uncertain significance Single submitter
- RINT1 p.Glu526Lys Uncertain significance Single submitter
- RINT1 p.Glu527Gly Uncertain significance Single submitter
- RINT1 p.Glu588Ala Uncertain significance Single submitter
- RINT1 p.Gly363Val Uncertain significance Single submitter
- RINT1 p.Gly375Ser Uncertain significance Single submitter
- RINT1 p.Gly582Arg Uncertain significance Single submitter
- RINT1 p.Gly768Ala Uncertain significance Single submitter
- RINT1 p.His221Arg Uncertain significance Single submitter
- RINT1 p.His221Leu Uncertain significance Single submitter
- RINT1 p.Ile344Thr Uncertain significance Single submitter
- RINT1 p.Ile546Thr Uncertain significance Single submitter
- RINT1 p.Ile60Thr Uncertain significance Single submitter
- RINT1 p.Ile686Thr Uncertain significance Single submitter
- RINT1 p.Ile691Thr Uncertain significance Single submitter
- RINT1 p.Ile779Ser Uncertain significance Single submitter
- RINT1 p.Leu136Pro Uncertain significance Single submitter
- RINT1 p.Leu171Arg Uncertain significance Single submitter
- RINT1 p.Leu201Phe Uncertain significance Single submitter
- RINT1 p.Leu210Pro Uncertain significance Single submitter
- RINT1 p.Leu228Phe Uncertain significance Single submitter
- RINT1 p.Leu236Val Uncertain significance Single submitter
- RINT1 p.Leu270Pro Uncertain significance Single submitter
- RINT1 p.Leu397Arg Uncertain significance Single submitter
- RINT1 p.Leu397Phe Uncertain significance Single submitter
- RINT1 p.Leu454Phe Uncertain significance Single submitter
- RINT1 p.Leu487Trp Uncertain significance Single submitter
- RINT1 p.Leu584Pro Uncertain significance Single submitter
- RINT1 p.Leu598Pro Uncertain significance Single submitter
- RINT1 p.Leu607Phe Uncertain significance Single submitter
- RINT1 p.Leu644Pro Uncertain significance Single submitter
- RINT1 p.Leu653Pro Uncertain significance Single submitter
- RINT1 p.Leu715Ser Uncertain significance Single submitter
- RINT1 p.Leu71Ser Uncertain significance Single submitter
- RINT1 p.Leu739Phe Uncertain significance Single submitter
- RINT1 p.Leu747Val Uncertain significance Single submitter
- RINT1 p.Leu764Val Uncertain significance Single submitter
- RINT1 p.Leu781Phe Uncertain significance Single submitter
- RINT1 p.Lys227Glu Uncertain significance Single submitter
- RINT1 p.Lys474Glu Uncertain significance Single submitter
- RINT1 p.Lys502Glu Uncertain significance Single submitter
- RINT1 p.Lys603Asn Uncertain significance Single submitter
- RINT1 p.Lys626Glu Uncertain significance Single submitter
- RINT1 p.Lys728Ile Uncertain significance Single submitter
- RINT1 p.Lys731Thr Uncertain significance Single submitter
- RINT1 p.Met450Thr Uncertain significance Single submitter
- RINT1 p.Met587Lys Uncertain significance Single submitter
- RINT1 p.Met606Thr Uncertain significance Single submitter
- RINT1 p.Phe212Ile Uncertain significance Single submitter
- RINT1 p.Phe243Leu Uncertain significance Single submitter
- RINT1 p.Phe271Leu Uncertain significance Single submitter
- RINT1 p.Phe372Leu Uncertain significance Single submitter
- RINT1 p.Phe398Leu Uncertain significance Single submitter
- RINT1 p.Phe558Leu Uncertain significance Single submitter
- RINT1 p.Phe59Leu Uncertain significance Single submitter
- RINT1 p.Phe716Leu Uncertain significance Single submitter
- RINT1 p.Phe727Tyr Uncertain significance Single submitter
- RINT1 p.Pro100Arg Uncertain significance Single submitter
-
RINT1 p.Pro419Arg
Conflicting
Single submitter
infantile liver failure syndrome 3
- RINT1 p.Pro476Ala Uncertain significance Single submitter
- RINT1 p.Ser172Asn Uncertain significance Single submitter
- RINT1 p.Ser189Phe Uncertain significance Single submitter
- RINT1 p.Ser295Pro Likely benign Single submitter
- RINT1 p.Ser331Arg Uncertain significance Single submitter
- RINT1 p.Ser364Pro Uncertain significance Single submitter
- RINT1 p.Ser96Pro Uncertain significance Single submitter
- RINT1 p.Thr190Pro Uncertain significance Single submitter
- RINT1 p.Thr440Lys Uncertain significance Single submitter
All RINT1 variants
Pathogenic 24
- c.1672-1G>A Single submitter RINT1-related disorder
- p.Ala215fs Single submitter
- p.Asn109fs Single submitter
- p.Asp594fs Single submitter
- p.Cys667fs Single submitter
- p.Gln356Ter Single submitter
- p.Gln504Ter Single submitter
- p.Glu371Ter Single submitter
- p.Glu432fs Single submitter
- p.Glu507Ter Single submitter
- p.Glu617Ter Single submitter
- p.Ile306fs Single submitter
- p.Leu576fs Single submitter
- p.Phe674fs Single submitter
- p.Phe696fs Single submitter
- p.Ser113Ter Single submitter
- p.Ser280Ter Single submitter
- p.Thr125fs Single submitter
- p.Tyr266fs Single submitter
- p.Tyr55Ter Single submitter
- p.Val36fs Single submitter
- p.Val684fs Single submitter
- c.1333+1G>T No assertion criteria infantile liver failure syndrome 3
- p.Leu370Pro No assertion criteria Fulminant hepatic failure
Likely pathogenic 16
- c.1107+1G>T Multiple submitters thyroid cancer, nonmedullary, 1
- c.1108-1G>T Single submitter
- c.1471+1G>T Single submitter
- c.1471+2T>A Single submitter
- c.1671+1G>C Single submitter
- c.1886+1G>T Single submitter
- c.515+2_515+9del Single submitter
- c.515+2T>C Single submitter
- c.690-1G>A Single submitter
- c.690-2A>G Single submitter
- c.839+1G>A Single submitter
- c.840-1G>C Single submitter
- p.Arg501Ter Single submitter
- p.Asn49Ter Single submitter infantile liver failure syndrome 3
- p.Asp403fs Single submitter infantile liver failure syndrome 3
- p.Gln610fs Single submitter
Conflicting classifications of pathogenicity 64
- c.1333+1G>A Single submitter familial ovarian cancer
- c.1671_1671+2del Single submitter
- c.1672-1G>C Single submitter RINT1-related disorder
- c.1887-4_1892del Single submitter
- c.689+1G>T Single submitter
- c.89-4del Single submitter
- p.Ala130Thr Single submitter infantile liver failure syndrome 3 ⚠
- p.Ala245Thr Single submitter ⚠
- p.Ala245Val Single submitter ⚠
- p.Ala542_Val543insTer Single submitter
- p.Arg104Gln Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Arg104Ter Single submitter
- p.Arg23Lys Single submitter ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg256Gly Single submitter ⚠
- p.Arg256Ter Single submitter
- p.Arg492= Single submitter
- p.Arg519Ter Single submitter infantile liver failure syndrome 3
- p.Arg529fs Single submitter
- p.Arg535Ter Single submitter hereditary breast ovarian cancer syndrome
- p.Arg656Ter Single submitter
- p.Arg722Lys Single submitter ⚠
- p.Asn109Ser Single submitter ⚠
- p.Asn396Ser Single submitter infantile liver failure syndrome 3 ⚠
- p.Asn574Thr Single submitter ⚠
- p.Asp144Asn Single submitter ⚠
- p.Asp21Asn Single submitter ⚠
- p.Asp21Glu Single submitter ⚠
- p.Asp593delinsLeuTer Single submitter
- p.Cys206fs Single submitter
- p.Cys720Phe Single submitter
- p.Cys720Tyr Single submitter ⚠
- p.Gln167His Single submitter ⚠
- p.Gln42His Single submitter ⚠
- p.Gln580fs Single submitter
- p.Gln664fs Single submitter
- p.Glu507Lys Single submitter ⚠
- p.Gly211Ala Single submitter ⚠
- p.Gly46Asp Single submitter ⚠
- p.His126Tyr Single submitter ⚠
- p.His658Arg Single submitter ⚠
- p.His729= Single submitter
- p.Ile131fs Single submitter
- p.Ile730Val Single submitter ⚠
- p.Leu341Val Single submitter thyroid cancer, nonmedullary, 1 ⚠
- p.Lys73Asn Single submitter ⚠
- p.Phe445= Single submitter
- p.Phe674Ser Single submitter ⚠
- p.Pro14Leu Single submitter ⚠
- p.Pro247fs Single submitter
- p.Pro261Leu Single submitter ⚠
- p.Pro419Arg Single submitter infantile liver failure syndrome 3 ⚠
- p.Ser10Tyr Single submitter infantile liver failure syndrome 3 ⚠
- p.Ser150Arg Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Ser462Leu Single submitter ⚠
- p.Ser84Asn Single submitter ⚠
- p.Thr94Arg Single submitter ⚠
- p.Trp220Ter Single submitter
- p.Tyr55= Single submitter
- p.Tyr719Cys Single submitter ⚠
- p.Val679Ala Single submitter hereditary breast ovarian cancer syndrome ⚠
- p.Val684Ile Single submitter ⚠
- p.Val741Ile Single submitter ⚠
- p.Val83Ile Single submitter ⚠
Benign 15
- c.1471+10T>C Multiple submitters
- c.2068-22T>C Multiple submitters infantile liver failure syndrome 3
- c.43-12TTC[2] Multiple submitters
- c.840-5G>A Multiple submitters
- p.Ala458= Multiple submitters
- p.Ile155= Multiple submitters
- p.Leu660Ile Multiple submitters infantile liver failure syndrome 3
- p.Met342Thr Multiple submitters
- p.Pro261= Multiple submitters
- p.Ser40Cys Multiple submitters infantile liver failure syndrome 3
- p.Thr181= Multiple submitters
- p.Thr790= Multiple submitters
- c.274-15del Single submitter
- c.89-8del Single submitter
- c.997-14del Single submitter
Benign/Likely benign 8
- c.1887-5dup Multiple submitters
- p.Asn367= Multiple submitters
- p.Asp552= Multiple submitters
- p.Ile244= Multiple submitters
- p.Phe668Ser Multiple submitters
- p.Pro185= Multiple submitters
- p.Pro759Leu Multiple submitters
- p.Thr125= Multiple submitters
Likely benign 475
Showing the top 300 by review status; the full set is in the sitemap.
- c.1333+9T>C Multiple submitters
- p.Ala110= Multiple submitters
- p.Ala13= Multiple submitters
- p.Ala138Val Multiple submitters
- p.Ala245= Multiple submitters
- p.Ala260= Multiple submitters
- p.Ala368= Multiple submitters
- p.Ala385= Multiple submitters
- p.Ala446= Multiple submitters
- p.Ala459= Multiple submitters
- p.Ala565= Multiple submitters
- p.Ala621= Multiple submitters
- p.Ala640= Multiple submitters
- p.Ala760= Multiple submitters
- p.Ala9= Multiple submitters
- p.Arg104= Multiple submitters
- p.Arg325= Multiple submitters
- p.Arg517= Multiple submitters
- p.Arg529= Multiple submitters
- p.Arg535= Multiple submitters
- p.Arg710= Multiple submitters
- p.Asn174= Multiple submitters
- p.Asn183= Multiple submitters
- p.Asn25= Multiple submitters
- p.Asn574= Multiple submitters
- p.Asn740= Multiple submitters
- p.Asn782= Multiple submitters
- p.Asn789= Multiple submitters
- p.Asp143= Multiple submitters
- p.Asp144= Multiple submitters
- p.Asp451= Multiple submitters
- p.Asp469= Multiple submitters
- p.Asp593= Multiple submitters
- p.Asp605= Multiple submitters
- p.Gln139= Multiple submitters
- p.Gln561= Multiple submitters
- p.Gln563= Multiple submitters
- p.Gln774= Multiple submitters
- p.Gln87= Multiple submitters
- p.Glu112= Multiple submitters
- p.Glu124= Multiple submitters
- p.Glu203= Multiple submitters
- p.Glu262= Multiple submitters
- p.Glu28= Multiple submitters
- p.Glu286= Multiple submitters
- p.Glu507Asp Multiple submitters
- p.Glu572= Multiple submitters
- p.Glu63= Multiple submitters
- p.Gly46= Multiple submitters
- p.Gly65= Multiple submitters
- p.His347= Multiple submitters
- p.His413= Multiple submitters
- p.His427= Multiple submitters
- p.His613= Multiple submitters
- p.His718= Multiple submitters
- p.Ile149= Multiple submitters
- p.Ile303= Multiple submitters
- p.Ile306= Multiple submitters
- p.Ile467= Multiple submitters
- p.Ile539= Multiple submitters
- p.Ile7= Multiple submitters
- p.Leu179= Multiple submitters
- p.Leu191= Multiple submitters
- p.Leu210= Multiple submitters
- p.Leu224= Multiple submitters
- p.Leu254= Multiple submitters
- p.Leu270= Multiple submitters
- p.Leu277= Multiple submitters
- p.Leu284= Multiple submitters
- p.Leu406= Multiple submitters
- p.Leu485= Multiple submitters
- p.Leu486= Multiple submitters
- p.Leu52= Multiple submitters
- p.Leu550= Multiple submitters
- p.Leu560= Multiple submitters
- p.Leu598= Multiple submitters
- p.Leu607= Multiple submitters
- p.Leu651= Multiple submitters
- p.Leu662= Multiple submitters
- p.Leu662Ser Multiple submitters ⚠
- p.Leu666= Multiple submitters
- p.Leu712= Multiple submitters
- p.Leu715= Multiple submitters
- p.Lys200= Multiple submitters
- p.Lys227= Multiple submitters
- p.Lys276= Multiple submitters
- p.Lys361Arg Multiple submitters
- p.Lys510= Multiple submitters
- p.Lys728= Multiple submitters
- p.Lys73= Multiple submitters
- p.Lys731= Multiple submitters
- p.Phe422= Multiple submitters
- p.Phe505= Multiple submitters
- p.Phe59= Multiple submitters
- p.Phe668= Multiple submitters
- p.Pro11= Multiple submitters
- p.Pro242= Multiple submitters
- p.Pro246= Multiple submitters
- p.Pro246Thr Multiple submitters
- p.Pro297= Multiple submitters
- p.Pro389= Multiple submitters
- p.Pro476= Multiple submitters
- p.Pro634= Multiple submitters
- p.Pro650= Multiple submitters
- p.Ser129= Multiple submitters
- p.Ser133= Multiple submitters
- p.Ser17= Multiple submitters
- p.Ser456= Multiple submitters
- p.Ser462= Multiple submitters
- p.Ser531= Multiple submitters
- p.Ser590= Multiple submitters
- p.Ser646= Multiple submitters
- p.Ser647= Multiple submitters
- p.Thr147= Multiple submitters
- p.Thr269= Multiple submitters
- p.Thr433= Multiple submitters
- p.Thr440= Multiple submitters
- p.Thr481= Multiple submitters
- p.Thr484= Multiple submitters
- p.Thr521= Multiple submitters
- p.Thr654= Multiple submitters
- p.Thr94= Multiple submitters
- p.Tyr178His Multiple submitters
- p.Tyr418= Multiple submitters
- p.Tyr545= Multiple submitters
- p.Tyr719= Multiple submitters
- p.Tyr726His Multiple submitters
- p.Val684= Multiple submitters
- c.1107+11C>G Single submitter
- c.1107+11C>T Single submitter
- c.1107+7G>C Single submitter
- c.1107+8A>T Single submitter
- c.1108-10A>G Single submitter
- c.1108-19T>C Single submitter
- c.1108-20A>G Single submitter
- c.1334-10T>C Single submitter
- c.1334-18G>A Single submitter
- c.1334-5del Single submitter
- c.1471+20T>C Single submitter
- c.1472-12_1472-11insA Single submitter
- c.1472-15_1472-13del Single submitter
- c.1472-7T>C Single submitter
- c.1472-8T>A Single submitter
- c.1671+20T>A Single submitter
- c.1672-11T>G Single submitter
- c.1672-15T>C Single submitter
- c.1672-16A>G Single submitter
- c.1886+12A>G Single submitter
- c.1886+13T>C Single submitter
- c.1886+14G>A Single submitter
- c.1886+16_1886+19dup Single submitter
- c.1886+17A>T Single submitter
- c.1886+7C>G Single submitter
- c.1886+8C>T Single submitter
- c.1887-12T>G Single submitter
- c.1887-13G>A Single submitter
- c.1887-6T>C Single submitter
- c.2067+11A>G Single submitter
- c.2067+14G>T Single submitter
- c.2067+18G>A Single submitter
- c.2068-17A>G Single submitter
- c.2186+15T>C Single submitter
- c.2186+19A>G Single submitter
- c.2186+26_2186+31del Single submitter
- c.2187-10C>A Single submitter
- c.2187-11T>C Single submitter
- c.2187-18T>C Single submitter
- c.2187-4A>T Single submitter
- c.2187-6A>G Single submitter
- c.2187-6A>T Single submitter
- c.273+14C>T Single submitter
- c.273+20G>A Single submitter
- c.273+7A>G Single submitter
- c.274-15T>A Single submitter
- c.274-18T>G Single submitter
- c.274-21_274-17del Single submitter
- c.274-7T>C Single submitter
- c.42+10C>T Single submitter
- c.42+12C>T Single submitter
- c.42+8G>C Single submitter
- c.42+9G>A Single submitter
- c.43-10C>G Single submitter
- c.43-15_43-14del Single submitter
- c.43-20C>G Single submitter
- c.43-4C>G Single submitter
- c.515+14C>T Single submitter
- c.515+17del Single submitter
- c.515+9G>A Single submitter
- c.516-4A>G Single submitter
- c.516-4A>T Single submitter
- c.516-9del Single submitter
- c.516-9T>C Single submitter
- c.689+13C>T Single submitter
- c.689+20T>G Single submitter
- c.690-15A>G Single submitter
- c.690-15dup Single submitter
- c.690-20G>A Single submitter
- c.690-6T>C Single submitter
- c.690-7A>G Single submitter
- c.690-9C>A Single submitter
- c.690-9C>T Single submitter
- c.840-11G>A Single submitter
- c.840-13T>C Single submitter
- c.840-16G>A Single submitter
- c.840-17T>C Single submitter
- c.840-19C>G Single submitter
- c.840-6T>C Single submitter
- c.840-7A>G Single submitter
- c.88+10C>T Single submitter
- c.88+9G>T Single submitter
- c.89-14T>C Single submitter
- c.89-17T>G Single submitter
- c.89-4G>A Single submitter
- c.996+12C>T Single submitter
- c.996+13A>C Single submitter
- c.996+18T>A Single submitter
- c.996+20G>T Single submitter
- c.996+9T>C Single submitter
- c.997-11T>G Single submitter
- c.997-12C>T Single submitter
- c.997-16T>C Single submitter
- c.997-6_997-3del Single submitter
- p.Ala130Ser Single submitter
- p.Ala138= Single submitter
- p.Ala160= Single submitter
- p.Ala187= Single submitter
- p.Ala188= Single submitter
- p.Ala258= Single submitter
- p.Ala4= Single submitter
- p.Ala499= Single submitter
- p.Ala538= Single submitter
- p.Ala542= Single submitter
- p.Ala554= Single submitter
- p.Ala571= Single submitter
- p.Ala58= Single submitter
- p.Ala585= Single submitter
- p.Ala701= Single submitter
- p.Ala702= Single submitter
- p.Ala744= Single submitter
- p.Ala754= Single submitter
- p.Ala754Thr Single submitter
- p.Ala763= Single submitter
- p.Arg157= Single submitter
- p.Arg23= Single submitter
- p.Arg318= Single submitter
- p.Arg369= Single submitter
- p.Arg410= Single submitter
- p.Arg519= Single submitter
- p.Arg601= Single submitter
- p.Arg629= Single submitter
- p.Arg784= Single submitter
- p.Asn118= Single submitter
- p.Asn328= Single submitter
- p.Asn33= Single submitter
- p.Asn49= Single submitter
- p.Asn597= Single submitter
- p.Asn66= Single submitter
- p.Asn694= Single submitter
- p.Asn697= Single submitter
- p.Asn738= Single submitter
- p.Asp198= Single submitter
- p.Asp21= Single submitter
- p.Asp31= Single submitter
- p.Asp360= Single submitter
- p.Asp403= Single submitter
- p.Asp466= Single submitter
- p.Asp48= Single submitter
- p.Asp51= Single submitter
- p.Asp511= Single submitter
- p.Asp67= Single submitter
- p.Cys15= Single submitter
- p.Cys16= Single submitter
- p.Cys390= Single submitter
- p.Cys649= Single submitter
- p.Cys667= Single submitter
- p.Gln115= Single submitter
- p.Gln177= Single submitter
- p.Gln202= Single submitter
- p.Gln238= Single submitter
- p.Gln248= Single submitter
- p.Gln250= Single submitter
- p.Gln278= Single submitter
- p.Gln356= Single submitter
- p.Gln42= Single submitter
- p.Gln436= Single submitter
- p.Gln463= Single submitter
- p.Gln509= Single submitter
- p.Gln564= Single submitter
- p.Gln580= Single submitter
- p.Gln676= Single submitter
- p.Gln757= Single submitter
- p.Glu111= Single submitter
- p.Glu233= Single submitter
- p.Glu268= Single submitter
- p.Glu334= Single submitter
- p.Glu353= Single submitter
- p.Glu371= Single submitter
- p.Glu457= Single submitter
- p.Glu507= Single submitter
- p.Glu527= Single submitter
Uncertain significance 1154
Showing the top 300 by review status; the full set is in the sitemap.
- c.1334-5_1335delinsTCA Multiple submitters
- c.1886+5G>A Multiple submitters
- c.2067+6_2067+9del Multiple submitters infantile liver failure syndrome 3
- c.2187-3C>T Multiple submitters
- c.516-3C>T Multiple submitters
- c.840-12T>A Multiple submitters infantile liver failure syndrome 3
- c.840-3C>G Multiple submitters
- p.Ala138Thr Multiple submitters ⚠
- p.Ala13Val Multiple submitters ⚠
- p.Ala188Ser Multiple submitters ⚠
- p.Ala195Thr Multiple submitters ⚠
- p.Ala423Phe Multiple submitters
- p.Ala446Gly Multiple submitters ⚠
- p.Ala459Thr Multiple submitters
- p.Ala499Thr Multiple submitters ⚠
- p.Ala499Val Multiple submitters ⚠
- p.Ala538Thr Multiple submitters ⚠
- p.Ala565Asp Multiple submitters
- p.Ala566Thr Multiple submitters ⚠
- p.Ala566Val Multiple submitters ⚠
- p.Ala571Pro Multiple submitters ⚠
- p.Ala585Asp Multiple submitters ⚠
- p.Ala585Thr Multiple submitters ⚠
- p.Ala763Val Multiple submitters ⚠
- p.Ala773Val Multiple submitters ⚠
- p.Arg104Gly Multiple submitters ⚠
- p.Arg157Cys Multiple submitters ⚠
- p.Arg157His Multiple submitters ⚠
- p.Arg256Pro Multiple submitters ⚠
- p.Arg318Ser Multiple submitters ⚠
- p.Arg325Gln Multiple submitters ⚠
- p.Arg325Trp Multiple submitters ⚠
- p.Arg374Gln Multiple submitters ⚠
- p.Arg374Trp Multiple submitters infantile liver failure syndrome 3
- p.Arg410Met Multiple submitters ⚠
- p.Arg437Lys Multiple submitters ⚠
- p.Arg492Ser Multiple submitters ⚠
- p.Arg501Gln Multiple submitters ⚠
- p.Arg535Gln Multiple submitters ⚠
- p.Arg601Cys Multiple submitters ⚠
- p.Arg601His Multiple submitters ⚠
- p.Arg601Leu Multiple submitters
- p.Arg609Cys Multiple submitters ⚠
- p.Arg609His Multiple submitters ⚠
- p.Arg616Lys Multiple submitters ⚠
- p.Arg656Gln Multiple submitters ⚠
- p.Arg656Gly Multiple submitters ⚠
- p.Arg710Gln Multiple submitters ⚠
- p.Arg710Trp Multiple submitters ⚠
- p.Arg784Lys Multiple submitters
- p.Arg784Ser Multiple submitters ⚠
- p.Arg81Trp Multiple submitters ⚠
- p.Asn328del Multiple submitters
- p.Asn33His Multiple submitters ⚠
- p.Asn49Tyr Multiple submitters ⚠
- p.Asn541Asp Multiple submitters ⚠
- p.Asn556Ser Multiple submitters ⚠
- p.Asn573Lys Multiple submitters ⚠
- p.Asn697Ser Multiple submitters ⚠
- p.Asn738Asp Multiple submitters ⚠
- p.Asn740Ile Multiple submitters ⚠
- p.Asn740Lys Multiple submitters ⚠
- p.Asn786His Multiple submitters ⚠
- p.Asn789fs Multiple submitters
- p.Asp143Asn Multiple submitters ⚠
- p.Asp173Gly Multiple submitters ⚠
- p.Asp198Asn Multiple submitters ⚠
- p.Asp352Gly Multiple submitters ⚠
- p.Asp352Val Multiple submitters ⚠
- p.Asp469Asn Multiple submitters ⚠
- p.Asp469Glu Multiple submitters ⚠
- p.Asp469His Multiple submitters ⚠
- p.Asp477His Multiple submitters infantile liver failure syndrome 3 ⚠
- p.Asp48Val Multiple submitters ⚠
- p.Asp511Gly Multiple submitters ⚠
- p.Asp552His Multiple submitters ⚠
- p.Asp605del Multiple submitters
- p.Asp620Glu Multiple submitters ⚠
- p.Asp620Val Multiple submitters ⚠
- p.Asp657Glu Multiple submitters ⚠
- p.Asp67Gly Multiple submitters
- p.Cys272Arg Multiple submitters hereditary breast ovarian cancer syndrome ⚠
- p.Cys434Arg Multiple submitters ⚠
- p.Cys478Phe Multiple submitters ⚠
- p.Cys537Arg Multiple submitters infantile liver failure syndrome 3 ⚠
- p.Cys537Ser Multiple submitters ⚠
- p.Cys537Tyr Multiple submitters ⚠
- p.Cys720Trp Multiple submitters ⚠
- p.Cys734Arg Multiple submitters ⚠
- p.Gln151Glu Multiple submitters ⚠
- p.Gln176His Multiple submitters ⚠
- p.Gln202Lys Multiple submitters ⚠
- p.Gln248Glu Multiple submitters ⚠
- p.Gln289Arg Multiple submitters ⚠
- p.Gln289Pro Multiple submitters ⚠
- p.Gln326Arg Multiple submitters ⚠
- p.Gln339Glu Multiple submitters
- p.Gln509His Multiple submitters ⚠
- p.Gln563Pro Multiple submitters ⚠
- p.Gln583His Multiple submitters ⚠
- p.Gln639His Multiple submitters ⚠
- p.Gln665Arg Multiple submitters ⚠
- p.Gln676Glu Multiple submitters ⚠
- p.Gln703His Multiple submitters ⚠
- p.Gln752Pro Multiple submitters ⚠
- p.Gln752Ter Multiple submitters
- p.Gln774Arg Multiple submitters ⚠
- p.Gln774Glu Multiple submitters ⚠
- p.Gln91Lys Multiple submitters ⚠
- p.Glu111Lys Multiple submitters ⚠
- p.Glu112Val Multiple submitters ⚠
- p.Glu156Gln Multiple submitters ⚠
- p.Glu156Lys Multiple submitters ⚠
- p.Glu169Lys Multiple submitters ⚠
- p.Glu203Asp Multiple submitters ⚠
- p.Glu262Asp Multiple submitters ⚠
- p.Glu262Gln Multiple submitters ⚠
- p.Glu268Asp Multiple submitters ⚠
- p.Glu286Gly Multiple submitters ⚠
- p.Glu28Asp Multiple submitters ⚠
- p.Glu431Lys Multiple submitters ⚠
- p.Glu442Gln Multiple submitters ⚠
- p.Glu6Gly Multiple submitters ⚠
- p.Glu778Asp Multiple submitters ⚠
- p.Glu98Asp Multiple submitters ⚠
- p.Gly363Asp Multiple submitters ⚠
- p.Gly375Ala Multiple submitters ⚠
- p.Gly533Ser Multiple submitters ⚠
- p.Gly65Val Multiple submitters
- p.Gly742Ser Multiple submitters
- p.Gly791Arg Multiple submitters ⚠
- p.Gly8Ser Multiple submitters ⚠
- p.His126Arg Multiple submitters ⚠
- p.His134Arg Multiple submitters ⚠
- p.His208Asp Multiple submitters ⚠
- p.His208Leu Multiple submitters ⚠
- p.His416Tyr Multiple submitters hereditary breast ovarian cancer syndrome ⚠
- p.His427Arg Multiple submitters ⚠
- p.His613Asn Multiple submitters infantile liver failure syndrome 3 ⚠
- p.His613Tyr Multiple submitters ⚠
- p.His695Arg Multiple submitters ⚠
- p.His695Gln Multiple submitters ⚠
- p.His718Asp Multiple submitters ⚠
- p.Ile152Thr Multiple submitters ⚠
- p.Ile152Val Multiple submitters ⚠
- p.Ile155Leu Multiple submitters ⚠
- p.Ile155Met Multiple submitters ⚠
- p.Ile168Thr Multiple submitters ⚠
- p.Ile199Val Multiple submitters ⚠
- p.Ile32Val Multiple submitters ⚠
- p.Ile388Thr Multiple submitters ⚠
- p.Ile38Thr Multiple submitters ⚠
- p.Ile428Ser Multiple submitters ⚠
- p.Ile539Val Multiple submitters ⚠
- p.Ile60Val Multiple submitters ⚠
- p.Ile686Leu Multiple submitters ⚠
- p.Ile690Val Multiple submitters ⚠
- p.Ile779Phe Multiple submitters ⚠
- p.Ile779Thr Multiple submitters ⚠
- p.Ile78Thr Multiple submitters ⚠
- p.Ile95Val Multiple submitters ⚠
- p.Leu107Val Multiple submitters infantile liver failure syndrome 3 ⚠
- p.Leu135Val Multiple submitters ⚠
- p.Leu145Pro Multiple submitters ⚠
- p.Leu197Val Multiple submitters ⚠
- p.Leu209Pro Multiple submitters ⚠
- p.Leu210His Multiple submitters ⚠
- p.Leu210Val Multiple submitters ⚠
- p.Leu224Val Multiple submitters ⚠
- p.Leu26Phe Multiple submitters ⚠
- p.Leu274Phe Multiple submitters ⚠
- p.Leu284Ile Multiple submitters ⚠
- p.Leu284Val Multiple submitters ⚠
- p.Leu2Pro Multiple submitters ⚠
- p.Leu310Val Multiple submitters ⚠
- p.Leu370Ile Multiple submitters ⚠
- p.Leu379Val Multiple submitters ⚠
- p.Leu401Phe Multiple submitters ⚠
- p.Leu406Ile Multiple submitters infantile liver failure syndrome 3 ⚠
- p.Leu406Pro Multiple submitters ⚠
- p.Leu429Ile Multiple submitters infantile liver failure syndrome 3 ⚠
- p.Leu447Phe Multiple submitters infantile liver failure syndrome 3 ⚠
- p.Leu447Val Multiple submitters ⚠
- p.Leu486Ile Multiple submitters ⚠
- p.Leu512Phe Multiple submitters infantile liver failure syndrome 3 ⚠
- p.Leu532Phe Multiple submitters ⚠
- p.Leu550Pro Multiple submitters ⚠
- p.Leu567Pro Multiple submitters ⚠
- p.Leu576Pro Multiple submitters ⚠
- p.Leu584Arg Multiple submitters ⚠
- p.Leu584Gln Multiple submitters ⚠
- p.Leu651Trp Multiple submitters
- p.Leu660Phe Multiple submitters ⚠
- p.Leu678Phe Multiple submitters ⚠
- p.Leu682Pro Multiple submitters ⚠
- p.Leu68Phe Multiple submitters hereditary breast ovarian cancer syndrome ⚠
- p.Leu712Val Multiple submitters ⚠
- p.Leu88Val Multiple submitters ⚠
- p.Leu93Phe Multiple submitters ⚠
- p.Lys114Gln Multiple submitters ⚠
- p.Lys114Glu Multiple submitters ⚠
- p.Lys163Glu Multiple submitters ⚠
- p.Lys225Glu Multiple submitters ⚠
- p.Lys293Asn Multiple submitters ⚠
- p.Lys315Asn Multiple submitters ⚠
- p.Lys465Glu Multiple submitters ⚠
- p.Lys619Gln Multiple submitters infantile liver failure syndrome 3 ⚠
- p.Lys672Asn Multiple submitters ⚠
- p.Lys721Glu Multiple submitters ⚠
- p.Lys728Ter Multiple submitters
- p.Lys748Gln Multiple submitters ⚠
- p.Lys771Arg Multiple submitters ⚠
- p.Met148Thr Multiple submitters ⚠
- p.Met148Val Multiple submitters ⚠
- p.Met194Thr Multiple submitters ⚠
- p.Met213Thr Multiple submitters ⚠
- p.Met213Val Multiple submitters ⚠
- p.Met342Ile Multiple submitters ⚠
- p.Met377Thr Multiple submitters ⚠
- p.Met378Thr Multiple submitters ⚠
- p.Met426Val Multiple submitters ⚠
- p.Met450Val Multiple submitters ⚠
- p.Met453Leu Multiple submitters ⚠
- p.Met453Lys Multiple submitters ⚠
- p.Met453Val Multiple submitters ⚠
- p.Met473Ile Multiple submitters ⚠
- p.Met483Ile Multiple submitters ⚠
- p.Met483Val Multiple submitters ⚠
- p.Met587Thr Multiple submitters ⚠
- p.Met587Val Multiple submitters ⚠
- p.Met595Leu Multiple submitters ⚠
- p.Met606Ile Multiple submitters ⚠
- p.Met677Val Multiple submitters ⚠
- p.Phe219Leu Multiple submitters ⚠
- p.Phe350Leu Multiple submitters ⚠
- p.Phe408Ile Multiple submitters ⚠
- p.Phe422Ser Multiple submitters ⚠
- p.Phe435Leu Multiple submitters ⚠
- p.Phe445Leu Multiple submitters ⚠
- p.Phe482Leu Multiple submitters ⚠
- p.Phe558Ser Multiple submitters ⚠
- p.Phe559Leu Multiple submitters infantile liver failure syndrome 3 ⚠
- p.Phe671Leu Multiple submitters ⚠
- p.Phe727Leu Multiple submitters ⚠
- p.Pro140Leu Multiple submitters ⚠
- p.Pro185Ala Multiple submitters ⚠
- p.Pro185Leu Multiple submitters ⚠
- p.Pro257Ala Multiple submitters ⚠
- p.Pro261Arg Multiple submitters ⚠
- p.Pro291Ser Multiple submitters ⚠
- p.Pro297Ser Multiple submitters ⚠
- p.Pro300Leu Multiple submitters ⚠
- p.Pro312Ser Multiple submitters ⚠
- p.Pro357Ser Multiple submitters
- p.Pro497Ser Multiple submitters
- p.Pro53Ser Multiple submitters ⚠
- p.Pro650Leu Multiple submitters ⚠
- p.Pro714Arg Multiple submitters ⚠
- p.Pro723Arg Multiple submitters ⚠
- p.Pro788Leu Multiple submitters ⚠
- p.Ser10Phe Multiple submitters ⚠
- p.Ser133Asn Multiple submitters ⚠
- p.Ser150Gly Multiple submitters ⚠
- p.Ser17Cys Multiple submitters ⚠
- p.Ser205Phe Multiple submitters ⚠
- p.Ser205Pro Multiple submitters ⚠
- p.Ser230Gly Multiple submitters ⚠
- p.Ser255Asn Multiple submitters ⚠
- p.Ser265Thr Multiple submitters ⚠
- p.Ser280Leu Multiple submitters ⚠
- p.Ser299Cys Multiple submitters ⚠
- p.Ser414Gly Multiple submitters ⚠
- p.Ser424Cys Multiple submitters ⚠
- p.Ser44Ile Multiple submitters ⚠
- p.Ser577Arg Multiple submitters ⚠
- p.Ser57Thr Multiple submitters ⚠
- p.Ser586Ala Multiple submitters infantile liver failure syndrome 3 ⚠
- p.Ser586Cys Multiple submitters ⚠
- p.Ser637Leu Multiple submitters ⚠
- p.Ser643Thr Multiple submitters ⚠
- p.Ser646Cys Multiple submitters ⚠
- p.Ser647Leu Multiple submitters infantile liver failure syndrome 3 ⚠
- p.Ser717Ala Multiple submitters ⚠
- p.Ser717fs Multiple submitters
- p.Ser717Thr Multiple submitters ⚠
- p.Ser743Tyr Multiple submitters
- p.Ser84Arg Multiple submitters ⚠
- p.Ser96Leu Multiple submitters ⚠
- p.Ser97Ala Multiple submitters ⚠
- p.Thr137Pro Multiple submitters ⚠
- p.Thr190Ala Multiple submitters ⚠
- p.Thr251Ala Multiple submitters ⚠
- p.Thr386Ile Multiple submitters ⚠
- p.Thr421Ser Multiple submitters ⚠
- p.Thr440Met Multiple submitters ⚠
- p.Thr481Asn Multiple submitters ⚠
- p.Thr484Ile Multiple submitters ⚠
- p.Thr498Ile Multiple submitters ⚠
- p.Thr521Ile Multiple submitters ⚠
- p.Thr528Ser Multiple submitters ⚠