FNIP1 — 470 ClinVar variants
All ClinVar germline FNIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 179 flagged for review →
21 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 24 Benign · 7 Benign/Likely benign · 222 Likely benign · 192 Uncertain significance
Full FNIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 179
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 lean, ClinVar uncertain 142
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FNIP1 p.Arg1024Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Arg1067Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Arg217Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Arg226His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Arg518Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Arg667Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Asn186Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Asn249Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Gln113Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Glu845Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Gly642Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.His589Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Ile791Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Lys347Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Lys669Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Lys886Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Thr551Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Thr702Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Thr797Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Thr929Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Tyr666Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Val199Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Val46Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FNIP1 p.Ala1047Gly Uncertain significance Single submitter
-
FNIP1 p.Ala18Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ala218Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Arg226Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Arg279Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Arg378Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Arg434His Uncertain significance Single submitter
-
FNIP1 p.Arg528Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Arg55Gly Uncertain significance Single submitter
- FNIP1 p.Arg957Gly Uncertain significance Single submitter
-
FNIP1 p.Asn1071Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Asn1097Asp Uncertain significance Single submitter
-
FNIP1 p.Asn127Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Asn186Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Asn190Ser Uncertain significance Single submitter
- FNIP1 p.Asn249Ser Uncertain significance Single submitter
- FNIP1 p.Asn346Ser Uncertain significance Single submitter
- FNIP1 p.Asn398Ser Uncertain significance Single submitter
- FNIP1 p.Asn462Ser Uncertain significance Single submitter
- FNIP1 p.Asn473Ser Uncertain significance Single submitter
- FNIP1 p.Asn877Ser Uncertain significance Single submitter
-
FNIP1 p.Asn881Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Asn882Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Asp1030Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Asp22Glu Uncertain significance Single submitter
-
FNIP1 p.Asp25Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Asp25His Uncertain significance Single submitter
- FNIP1 p.Asp645Asn Uncertain significance Single submitter
- FNIP1 p.Asp654Asn Uncertain significance Single submitter
-
FNIP1 p.Asp654Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Asp862Asn Uncertain significance Single submitter
-
FNIP1 p.Asp904Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Cys608Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Cys887Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Gln41Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Gln529Glu Uncertain significance Single submitter
- FNIP1 p.Gln775His Uncertain significance Single submitter
- FNIP1 p.Gln967Lys Uncertain significance Single submitter
-
FNIP1 p.Glu1108Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Glu36Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Glu599Gly Uncertain significance Single submitter
- FNIP1 p.Glu631Lys Uncertain significance Single submitter
- FNIP1 p.Glu700Gly Uncertain significance Single submitter
-
FNIP1 p.Glu786Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Glu786Lys Uncertain significance Single submitter
-
FNIP1 p.Glu837Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Glu883Asp Uncertain significance Single submitter
-
FNIP1 p.Glu889Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Gly15Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Gly17Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Gly17Ser Uncertain significance Single submitter
-
FNIP1 p.Gly698Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Gly789Glu Uncertain significance Single submitter
- FNIP1 p.Gly85Val Uncertain significance Single submitter
- FNIP1 p.Gly952Val Uncertain significance Single submitter
-
FNIP1 p.His1033Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.His826Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Ile171Asn Uncertain significance Single submitter
- FNIP1 p.Ile370Val Uncertain significance Single submitter
-
FNIP1 p.Ile42Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ile456Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ile480Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ile513Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ile737Thr
Uncertain significance
Single submitter
FNIP1-related disorder
-
FNIP1 p.Ile737Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ile911Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Leu617Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Leu711Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Leu767Val Uncertain significance Single submitter
- FNIP1 p.Leu90Pro Uncertain significance Single submitter
-
FNIP1 p.Lys1075Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Lys611Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Lys731Gln Uncertain significance Single submitter
-
FNIP1 p.Met443Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Met649Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Met759Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Met866Thr Uncertain significance Single submitter
-
FNIP1 p.Met866Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Phe351Leu Uncertain significance Single submitter
- FNIP1 p.Pro1100Ser Uncertain significance Single submitter
-
FNIP1 p.Pro26Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Pro33Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Pro783Ser Uncertain significance Single submitter
- FNIP1 p.Pro822Leu Uncertain significance Single submitter
- FNIP1 p.Pro901His Uncertain significance Single submitter
-
FNIP1 p.Pro92Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ser103Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ser1064Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ser108Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Ser144Phe Uncertain significance Single submitter
- FNIP1 p.Ser210Pro Uncertain significance Single submitter
-
FNIP1 p.Ser387Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Ser423Leu Uncertain significance Single submitter
-
FNIP1 p.Ser71Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ser73Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ser808Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ser815Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ser843Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Ser961Asn Uncertain significance Single submitter
- FNIP1 p.Ser97Tyr Uncertain significance Single submitter
- FNIP1 p.Thr167Ile Uncertain significance Single submitter
- FNIP1 p.Thr177Met Uncertain significance Single submitter
- FNIP1 p.Thr551Ala Uncertain significance Single submitter
-
FNIP1 p.Thr572Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Thr684Ile Uncertain significance Single submitter
- FNIP1 p.Thr702Arg Uncertain significance Single submitter
- FNIP1 p.Thr725Ile Uncertain significance Single submitter
- FNIP1 p.Thr781Ser Uncertain significance Single submitter
- FNIP1 p.Thr890Ala Uncertain significance Single submitter
-
FNIP1 p.Trp706Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Tyr117Cys Uncertain significance Single submitter
- FNIP1 p.Tyr390Cys Uncertain significance Single submitter
- FNIP1 p.Val532Gly Uncertain significance Single submitter
- FNIP1 p.Val586Ile Uncertain significance Single submitter
- FNIP1 p.Val63Ile Uncertain significance Single submitter
-
FNIP1 p.Val661Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Val661Ile Uncertain significance Single submitter
- FNIP1 p.Val682Phe Uncertain significance Single submitter
-
FNIP1 p.Val83Gly
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 37
The independent predictors disagree with each other — read with care.
-
FNIP1 p.His1106Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Phe270Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FNIP1 p.Ser1081Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FNIP1 p.Arg1130His Uncertain significance Single submitter
- FNIP1 p.Arg121Trp Uncertain significance Single submitter
-
FNIP1 p.Arg152Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Arg152Gly Likely pathogenic Single submitter
- FNIP1 p.Arg152His Uncertain significance Single submitter
-
FNIP1 p.Arg166Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Arg304Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Arg378Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Arg386Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Arg518Gln Conflicting Single submitter
- FNIP1 p.Asp1030His Uncertain significance Single submitter
- FNIP1 p.Gly173Glu Uncertain significance Single submitter
- FNIP1 p.Gly245Arg Uncertain significance Single submitter
-
FNIP1 p.Gly511Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Gly576Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Ile256Met
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Ile513Thr Uncertain significance Single submitter
-
FNIP1 p.Ile755Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Ile933Leu Uncertain significance Single submitter
- FNIP1 p.Phe353Leu Uncertain significance Single submitter
- FNIP1 p.Phe451Leu Uncertain significance Single submitter
-
FNIP1 p.Pro3Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Pro3Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Pro565Ser Uncertain significance Single submitter
- FNIP1 p.Pro761Leu Uncertain significance Single submitter
-
FNIP1 p.Ser140Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Ser153Phe Benign Single submitter
- FNIP1 p.Ser153Tyr Uncertain significance Single submitter
-
FNIP1 p.Ser296Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Thr461Ser Uncertain significance Single submitter
-
FNIP1 p.Thr4Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Trp305Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FNIP1 p.Val81Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- FNIP1 p.Ser1118Asn Pathogenic No assertion criteria
All FNIP1 variants
Pathogenic 21
- p.Arg287Ter Single submitter
- p.Arg290Ter Single submitter
- p.Arg392Ter Single submitter
- p.Arg412Ter Single submitter
- p.Arg53Ter Single submitter
- p.Arg768Ter Single submitter
- p.Asp559fs Single submitter
- p.Asp851fs Single submitter
- p.Asp945fs Single submitter
- p.Cys683fs Single submitter
- p.Glu415fs Single submitter
- p.Glu703fs Single submitter
- p.Glu975Ter Single submitter
- p.Gly76fs Single submitter
- p.Gly964fs Single submitter
- p.Ile925fs Single submitter
- p.Tyr1124Ter Single submitter
- c.3306+1G>A No assertion criteria
- p.His430fs No assertion criteria
- p.Leu1073fs No assertion criteria
- p.Ser1118Asn No assertion criteria ⚠
Likely pathogenic 3
- c.1520-2A>G Single submitter
- c.220-1G>C Single submitter
- p.Arg152Gly Single submitter ⚠
Conflicting classifications of pathogenicity 1
- p.Arg518Gln Single submitter ⚠
Benign 24
- c.3422+15T>C Multiple submitters
- c.354+20T>G Multiple submitters
- p.Asp809= Multiple submitters
- p.Gln648Arg Multiple submitters
- p.Gly76Cys Multiple submitters
- p.Gly997= Multiple submitters
- p.Leu784= Multiple submitters
- p.Ser153= Multiple submitters
- p.Thr551= Multiple submitters
- c.1117-5del Single submitter
- c.2940-20del Single submitter
- c.2940-32A>T Single submitter
- c.2940-6_2940-4del Single submitter
- c.3108+74T>C Single submitter
- c.3423-15dup Single submitter
- c.915-16dup Single submitter
- p.Ala520= Single submitter
- p.Ala971Ser Single submitter
- p.Gly300= Single submitter
- p.Gly76= Single submitter
- p.Leu129= Single submitter
- p.Leu502= Single submitter
- p.Ser153Phe Single submitter ⚠
- p.Val927Ile Single submitter
Benign/Likely benign 7
- c.355-12G>T Multiple submitters
- p.Asp904Glu Multiple submitters
- p.Gln804= Multiple submitters
- p.Ile307Val Multiple submitters
- p.Ile844Val Multiple submitters
- p.Phe884Leu Multiple submitters
- p.Val738Leu Multiple submitters
Likely benign 222
- c.1519+19G>T Multiple submitters
- p.Ala1045= Multiple submitters
- p.Arg290= Multiple submitters
- p.Ile562= Multiple submitters
- p.Ser758= Multiple submitters
- p.Thr749= Multiple submitters
- c.1116+10G>A Single submitter
- c.1116+10G>T Single submitter
- c.1117-18T>C Single submitter
- c.1117-4C>T Single submitter
- c.1202+10G>A Single submitter
- c.1202+16C>T Single submitter
- c.1202+18T>A Single submitter
- c.1202+20C>G Single submitter
- c.1202+7A>G Single submitter
- c.1203-18G>A Single submitter
- c.1203-20A>T Single submitter
- c.1350-13A>C Single submitter
- c.1350-4T>C Single submitter
- c.1520-10T>G Single submitter
- c.1520-20_1520-19insT Single submitter
- c.1520-7A>G Single submitter
- c.1520-8C>T Single submitter
- c.219+10A>G Single submitter
- c.219+12T>C Single submitter
- c.219+14T>A Single submitter
- c.219+17A>G Single submitter
- c.219+9C>A Single submitter
- c.220-10_220-9del Single submitter
- c.220-13T>C Single submitter
- c.2939+13T>C Single submitter
- c.2940-14C>T Single submitter
- c.2940-15G>A Single submitter
- c.2940-16G>A Single submitter
- c.3108+19T>C Single submitter
- c.3109-5T>C Single submitter
- c.3109-8A>G Single submitter
- c.3306+11G>A Single submitter
- c.3306+17C>T Single submitter
- c.3306+8T>C Single submitter
- c.3307-14C>T Single submitter
- c.3423-15T>C Single submitter
- c.3423-18T>G Single submitter
- c.3423-8T>C Single submitter
- c.354+13A>G Single submitter
- c.354+14T>A Single submitter
- c.354+18A>C Single submitter
- c.354+20T>A Single submitter
- c.354+9A>G Single submitter
- c.455+8G>C Single submitter
- c.456-18T>C Single submitter
- c.456-4A>G Single submitter
- c.456-7T>G Single submitter
- c.530+19A>G Single submitter
- c.531-4A>G Single submitter
- c.531-6C>G Single submitter
- c.531-8C>T Single submitter
- c.622+10T>C Single submitter
- c.622+17A>C Single submitter
- c.622+8G>C Single submitter
- c.623-13T>C Single submitter
- c.623-16C>T Single submitter
- c.623-4G>A Single submitter
- c.623-5T>C Single submitter
- c.623-6A>T Single submitter
- c.623-8C>G Single submitter
- c.623-9G>A Single submitter
- c.706+15G>A Single submitter
- c.706+15G>T Single submitter
- c.706+7G>C Single submitter
- c.707-14A>G Single submitter
- c.707-15C>T Single submitter
- c.707-4A>G Single submitter
- c.707-5T>A Single submitter
- c.707-8A>C Single submitter
- c.779-11T>C Single submitter
- c.779-20T>C Single submitter
- c.779-7T>C Single submitter
- c.914+13_914+19del Single submitter
- c.914+20A>G Single submitter
- c.914+20A>T Single submitter
- c.915-13A>G Single submitter
- c.915-16A>G Single submitter
- c.92+12T>C Single submitter
- c.92+16G>T Single submitter
- c.93-17C>T Single submitter
- p.Ala1034= Single submitter
- p.Ala260= Single submitter
- p.Ala389= Single submitter
- p.Ala465= Single submitter
- p.Ala676= Single submitter
- p.Ala676Thr Single submitter Inborn genetic diseases
- p.Ala79= Single submitter
- p.Arg288= Single submitter
- p.Arg518= Single submitter
- p.Arg53= Single submitter
- p.Asn189= Single submitter
- p.Asn190= Single submitter
- p.Asn201= Single submitter
- p.Asn500= Single submitter
- p.Asn607= Single submitter
- p.Asn607Ser Single submitter Inborn genetic diseases
- p.Asn624= Single submitter
- p.Asn635= Single submitter
- p.Asn812= Single submitter
- p.Asn840= Single submitter
- p.Asn882= Single submitter
- p.Asp315= Single submitter
- p.Asp395= Single submitter
- p.Asp675= Single submitter
- p.Asp836= Single submitter
- p.Asp907= Single submitter
- p.Asp950= Single submitter
- p.Cys1005= Single submitter
- p.Cys864= Single submitter
- p.Cys899= Single submitter
- p.Gln1015= Single submitter
- p.Gln627= Single submitter
- p.Gln627Arg Single submitter Inborn genetic diseases
- p.Gln795= Single submitter
- p.Gln799= Single submitter
- p.Glu221= Single submitter
- p.Glu438= Single submitter
- p.Glu558= Single submitter
- p.Glu599= Single submitter
- p.Glu623= Single submitter
- p.Glu696= Single submitter
- p.Glu700Gln Single submitter
- p.Glu730Gly Single submitter
- p.Glu745= Single submitter
- p.Glu930= Single submitter
- p.Gly1018= Single submitter
- p.Gly1127= Single submitter
- p.Gly20= Single submitter
- p.Gly255= Single submitter
- p.Gly511= Single submitter
- p.Gly54= Single submitter
- p.Gly557= Single submitter
- p.Gly685= Single submitter
- p.Gly726= Single submitter
- p.Gly789= Single submitter
- p.Gly94= Single submitter
- p.His1132= Single submitter
- p.His362= Single submitter
- p.Ile1017= Single submitter
- p.Ile148= Single submitter
- p.Ile171= Single submitter
- p.Ile844= Single submitter
- p.Ile933= Single submitter
- p.Leu1031= Single submitter
- p.Leu1078= Single submitter
- p.Leu1111= Single submitter
- p.Leu1114= Single submitter
- p.Leu203= Single submitter
- p.Leu204= Single submitter
- p.Leu44= Single submitter
- p.Leu909= Single submitter
- p.Lys484= Single submitter
- p.Lys664= Single submitter
- p.Lys8= Single submitter
- p.Lys861= Single submitter
- p.Met421Val Single submitter
- p.Phe441= Single submitter
- p.Phe835= Single submitter
- p.Phe84= Single submitter
- p.Phe996= Single submitter
- p.Pro154= Single submitter
- p.Pro224= Single submitter
- p.Pro269= Single submitter
- p.Pro322= Single submitter
- p.Pro39= Single submitter
- p.Pro498= Single submitter
- p.Pro516= Single submitter
- p.Pro606= Single submitter
- p.Pro688= Single submitter
- p.Pro892= Single submitter
- p.Pro991= Single submitter
- p.Ser1144= Single submitter
- p.Ser170= Single submitter
- p.Ser220= Single submitter
- p.Ser230= Single submitter
- p.Ser232= Single submitter
- p.Ser238= Single submitter
- p.Ser263= Single submitter
- p.Ser264= Single submitter
- p.Ser486= Single submitter
- p.Ser644= Single submitter
- p.Ser651= Single submitter
- p.Ser815= Single submitter
- p.Ser827= Single submitter
- p.Ser98= Single submitter
- p.Thr14= Single submitter
- p.Thr164= Single submitter
- p.Thr191= Single submitter
- p.Thr198= Single submitter
- p.Thr278= Single submitter
- p.Thr409= Single submitter
- p.Thr420= Single submitter
- p.Thr461= Single submitter
- p.Thr605= Single submitter
- p.Thr680= Single submitter
- p.Thr705= Single submitter
- p.Thr718= Single submitter
- p.Thr781= Single submitter
- p.Thr797= Single submitter
- p.Thr801= Single submitter
- p.Thr848= Single submitter
- p.Thr908= Single submitter
- p.Tyr1008= Single submitter
- p.Tyr117= Single submitter
- p.Tyr285= Single submitter
- p.Val104= Single submitter
- p.Val1048= Single submitter
- p.Val1061= Single submitter
- p.Val1068Met Single submitter Inborn genetic diseases
- p.Val137= Single submitter
- p.Val301= Single submitter
- p.Val334= Single submitter
- p.Val622Ile Single submitter Inborn genetic diseases
- p.Val72= Single submitter
- p.Val773= Single submitter
- p.Val913= Single submitter
Uncertain significance 192
- p.Arg1024Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg1067Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg217Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg226His Multiple submitters Inborn genetic diseases ⚠
- p.Arg326Gln Multiple submitters Inborn genetic diseases
- p.Arg518Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg667Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asn186Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn249Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gln113Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu845Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly642Glu Multiple submitters Inborn genetic diseases ⚠
- p.His1106Arg Multiple submitters Inborn genetic diseases ⚠
- p.His589Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile791Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys347Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys669Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys886Gln Multiple submitters Inborn genetic diseases ⚠
- p.Phe270Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser1081Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr551Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr702Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr797Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr929Ser Multiple submitters Inborn genetic diseases ⚠
- p.Tyr666Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val199Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val46Ile Multiple submitters Inborn genetic diseases ⚠
- c.219+3G>A Single submitter
- c.530+4del Single submitter
- p.Ala1047Gly Single submitter ⚠
- p.Ala18Val Single submitter Inborn genetic diseases ⚠
- p.Ala218Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1130His Single submitter ⚠
- p.Arg121Trp Single submitter ⚠
- p.Arg152Cys Single submitter Inborn genetic diseases ⚠
- p.Arg152His Single submitter ⚠
- p.Arg166Trp Single submitter Inborn genetic diseases ⚠
- p.Arg226Cys Single submitter Inborn genetic diseases ⚠
- p.Arg279Gln Single submitter Inborn genetic diseases ⚠
- p.Arg304Lys Single submitter Inborn genetic diseases ⚠
- p.Arg378Gln Single submitter Inborn genetic diseases ⚠
- p.Arg378Trp Single submitter Inborn genetic diseases ⚠
- p.Arg386Gly Single submitter Inborn genetic diseases ⚠
- p.Arg434His Single submitter ⚠
- p.Arg528Gln Single submitter Inborn genetic diseases ⚠
- p.Arg55Gly Single submitter ⚠
- p.Arg957Gly Single submitter ⚠
- p.Asn1071Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1097Asp Single submitter ⚠
- p.Asn127Ser Single submitter Inborn genetic diseases ⚠
- p.Asn186Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn190Ser Single submitter ⚠
- p.Asn249Ser Single submitter ⚠
- p.Asn346Ser Single submitter ⚠
- p.Asn398Ser Single submitter ⚠
- p.Asn462Ser Single submitter ⚠
- p.Asn473Ser Single submitter ⚠
- p.Asn877Ser Single submitter ⚠
- p.Asn881Ser Single submitter Inborn genetic diseases ⚠
- p.Asn882Lys Single submitter Inborn genetic diseases ⚠
- p.Asp1030Asn Single submitter Inborn genetic diseases ⚠
- p.Asp1030His Single submitter ⚠
- p.Asp22Glu Single submitter ⚠
- p.Asp25Ala Single submitter Inborn genetic diseases ⚠
- p.Asp25His Single submitter ⚠
- p.Asp315Gly Single submitter Inborn genetic diseases
- p.Asp38Gly Single submitter
- p.Asp645Asn Single submitter ⚠
- p.Asp654Asn Single submitter ⚠
- p.Asp654Glu Single submitter Inborn genetic diseases ⚠
- p.Asp862Asn Single submitter ⚠
- p.Asp904Gly Single submitter Inborn genetic diseases ⚠
- p.Cys213Gly Single submitter Inborn genetic diseases
- p.Cys608Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys887Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln41Glu Single submitter Inborn genetic diseases ⚠
- p.Gln48Ter Single submitter
- p.Gln529Glu Single submitter ⚠
- p.Gln775His Single submitter ⚠
- p.Gln967Lys Single submitter ⚠
- p.Glu1108Asp Single submitter Inborn genetic diseases ⚠
- p.Glu36Ala Single submitter Inborn genetic diseases ⚠
- p.Glu558del Single submitter
- p.Glu599Gly Single submitter ⚠
- p.Glu631Lys Single submitter ⚠
- p.Glu700Gly Single submitter ⚠
- p.Glu786Gly Single submitter Inborn genetic diseases ⚠
- p.Glu786Lys Single submitter ⚠
- p.Glu837Lys Single submitter Inborn genetic diseases ⚠
- p.Glu883Asp Single submitter ⚠
- p.Glu889Lys Single submitter Inborn genetic diseases ⚠
- p.Gly15Glu Single submitter Inborn genetic diseases ⚠
- p.Gly173Glu Single submitter ⚠
- p.Gly17Ala Single submitter Inborn genetic diseases ⚠
- p.Gly17Ser Single submitter ⚠
- p.Gly245Arg Single submitter ⚠
- p.Gly511Ser Single submitter Inborn genetic diseases ⚠
- p.Gly576Asp Single submitter Inborn genetic diseases ⚠
- p.Gly698Asp Single submitter Inborn genetic diseases ⚠
- p.Gly789Glu Single submitter ⚠
- p.Gly85Val Single submitter ⚠
- p.Gly952Val Single submitter ⚠
- p.His1033Arg Single submitter Inborn genetic diseases ⚠
- p.His826Arg Single submitter Inborn genetic diseases ⚠
- p.Ile1051Thr Single submitter
- p.Ile171Asn Single submitter ⚠
- p.Ile256Met Single submitter Inborn genetic diseases ⚠
- p.Ile370Val Single submitter ⚠
- p.Ile42Thr Single submitter Inborn genetic diseases ⚠
- p.Ile456Val Single submitter Inborn genetic diseases ⚠
- p.Ile480Met Single submitter Inborn genetic diseases ⚠
- p.Ile513Thr Single submitter ⚠
- p.Ile513Val Single submitter Inborn genetic diseases ⚠
- p.Ile737Thr Single submitter FNIP1-related disorder ⚠
- p.Ile737Val Single submitter Inborn genetic diseases ⚠
- p.Ile755Thr Single submitter Inborn genetic diseases ⚠
- p.Ile911Val Single submitter Inborn genetic diseases ⚠
- p.Ile933Leu Single submitter ⚠
- p.Leu313= Single submitter
- p.Leu617Pro Single submitter Inborn genetic diseases ⚠
- p.Leu711Ser Single submitter Inborn genetic diseases ⚠
- p.Leu767Val Single submitter ⚠
- p.Leu90Pro Single submitter ⚠
- p.Lys1075Glu Single submitter Inborn genetic diseases ⚠
- p.Lys611Glu Single submitter Inborn genetic diseases ⚠
- p.Lys731Gln Single submitter ⚠
- p.Met374Val Single submitter Inborn genetic diseases
- p.Met443Val Single submitter Inborn genetic diseases ⚠
- p.Met649Ile Single submitter Inborn genetic diseases ⚠
- p.Met759Val Single submitter Inborn genetic diseases ⚠
- p.Met866Thr Single submitter ⚠
- p.Met866Val Single submitter Inborn genetic diseases ⚠
- p.Phe351Leu Single submitter ⚠
- p.Phe353Leu Single submitter ⚠
- p.Phe451Leu Single submitter ⚠
- p.Pro1100Ser Single submitter ⚠
- p.Pro224Gln Single submitter Inborn genetic diseases
- p.Pro26Ser Single submitter Inborn genetic diseases ⚠
- p.Pro33Ser Single submitter Inborn genetic diseases ⚠
- p.Pro3Arg Single submitter Inborn genetic diseases ⚠
- p.Pro3Ser Single submitter Inborn genetic diseases ⚠
- p.Pro565Ser Single submitter ⚠
- p.Pro761Leu Single submitter ⚠
- p.Pro783Ser Single submitter ⚠
- p.Pro822Leu Single submitter ⚠
- p.Pro901His Single submitter ⚠
- p.Pro92Ala Single submitter Inborn genetic diseases ⚠
- p.Ser103Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser1064Thr Single submitter Inborn genetic diseases ⚠
- p.Ser108Ala Single submitter Inborn genetic diseases ⚠
- p.Ser140Ile Single submitter Inborn genetic diseases ⚠
- p.Ser144Phe Single submitter ⚠
- p.Ser153Tyr Single submitter ⚠
- p.Ser210Pro Single submitter ⚠
- p.Ser296Thr Single submitter Inborn genetic diseases ⚠
- p.Ser387Thr Single submitter Inborn genetic diseases ⚠
- p.Ser423Leu Single submitter ⚠
- p.Ser71Pro Single submitter Inborn genetic diseases ⚠
- p.Ser73Leu Single submitter Inborn genetic diseases ⚠
- p.Ser808Ala Single submitter Inborn genetic diseases ⚠
- p.Ser815Phe Single submitter Inborn genetic diseases ⚠
- p.Ser843Ala Single submitter Inborn genetic diseases ⚠
- p.Ser961Asn Single submitter ⚠
- p.Ser97Tyr Single submitter ⚠
- p.Thr167Ile Single submitter ⚠
- p.Thr177Met Single submitter ⚠
- p.Thr409Lys Single submitter
- p.Thr461Ser Single submitter ⚠
- p.Thr4Met Single submitter Inborn genetic diseases ⚠
- p.Thr551Ala Single submitter ⚠
- p.Thr572Ala Single submitter Inborn genetic diseases ⚠
- p.Thr684Ile Single submitter ⚠
- p.Thr702Arg Single submitter ⚠
- p.Thr725Ile Single submitter ⚠
- p.Thr781Ser Single submitter ⚠
- p.Thr890Ala Single submitter ⚠
- p.Trp305Arg Single submitter Inborn genetic diseases ⚠
- p.Trp706Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr117Cys Single submitter ⚠
- p.Tyr390Cys Single submitter ⚠
- p.Tyr537His Single submitter
- p.Val525Ala Single submitter
- p.Val532Gly Single submitter ⚠
- p.Val586Ile Single submitter ⚠
- p.Val63Ile Single submitter ⚠
- p.Val661Ala Single submitter Inborn genetic diseases ⚠
- p.Val661Ile Single submitter ⚠
- p.Val682Phe Single submitter ⚠
- p.Val81Asp Single submitter Inborn genetic diseases ⚠
- p.Val83Gly Single submitter Inborn genetic diseases ⚠
- c.455+1G>A No assertion criteria Wolff-Parkinson-White syndrome
- p.Lys918fs No assertion criteria Wolff-Parkinson-White syndrome