FBP1 — 330 ClinVar variants
All ClinVar germline FBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
32 Pathogenic · 7 Pathogenic/Likely pathogenic · 13 Likely pathogenic · 22 Conflicting · 20 Benign · 10 Benign/Likely benign · 149 Likely benign · 77 Uncertain significance
Full FBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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.
-
FBP1 p.Ala217Thr
Conflicting
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Arg244Trp
Conflicting
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Gly294Arg
Conflicting
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Leu329Pro
Conflicting
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Val224Ile
Conflicting
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Val306Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FBP1 p.Ala223Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FBP1 p.Ala5Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FBP1 p.Arg255Leu
Uncertain significance
Multiple submitters
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Asp324Asn
Uncertain significance
Multiple submitters
fructose-1,6-bisphosphatase deficiency
- FBP1 p.Asp75Asn Uncertain significance Multiple submitters
-
FBP1 p.Gly207Arg
Uncertain significance
Multiple submitters
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Phe233Leu
Uncertain significance
Multiple submitters
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Pro235Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FBP1 p.Pro316Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FBP1 p.Tyr241His
Uncertain significance
Multiple submitters
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Val133Ile
Uncertain significance
Multiple submitters
fructose-1,6-bisphosphatase deficiency
- FBP1 p.Ala153Asp Uncertain significance Single submitter
-
FBP1 p.Ala162Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Ala337Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Ala91Ser
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Arg16His
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Arg244Gln
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Arg255Cys
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Asn159Lys
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Asn65Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Asp324Gly
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Asp69Gly
Uncertain significance
Single submitter
Abnormality of acid-base homeostasis
-
FBP1 p.Cys180Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Glu327Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Glu333Gly
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Glu333Lys
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Gly157Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Gly261Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Leu160Arg
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Leu176Arg
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Leu329Met
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Leu57Phe
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Leu81Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Lys151Gln
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
- FBP1 p.Met178Val Uncertain significance Single submitter
-
FBP1 p.Met186Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Pro148His
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Pro222Ser
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Pro235Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- FBP1 p.Pro322Ala Uncertain significance Single submitter
- FBP1 p.Ser211Asn Uncertain significance Single submitter
-
FBP1 p.Ser211Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FBP1 p.Ser321Phe Uncertain significance Single submitter
-
FBP1 p.Thr309Lys
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Tyr265Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- FBP1 p.Val303Met Uncertain significance Single submitter
-
FBP1 p.Val96Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 13
The independent predictors disagree with each other — read with care.
- FBP1 p.Ala166Thr Uncertain significance Multiple submitters
-
FBP1 p.Glu226Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FBP1 p.Gly164Ser
Pathogenic/Likely pathogenic
Multiple submitters
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Thr297Ala
Uncertain significance
Multiple submitters
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Ala103Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Ala166Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Ala267Thr
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Arg26Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Leu160Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Leu326Pro
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Pro108Leu
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
-
FBP1 p.Pro189Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FBP1 p.Pro235Arg
Uncertain significance
Single submitter
fructose-1,6-bisphosphatase deficiency
All FBP1 variants
Pathogenic 32
- c.426+1G>A Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Arg158Trp Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Glu281Ter Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Val131fs Multiple submitters fructose-1,6-bisphosphatase deficiency
- c.333+2T>G Single submitter fructose-1,6-bisphosphatase deficiency
- c.825+1G>A Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ala44fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Cys282Ter Single submitter fructose-1,6-bisphosphatase deficiency
- p.Glu109Ter Single submitter fructose-1,6-bisphosphatase deficiency
- p.Glu193Ter Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gly260fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gly294Glu Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gly68fs Single submitter
- p.Ile195fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ile45_Val49delinsHisLeuTer Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu95fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Lys43Ter Single submitter fructose-1,6-bisphosphatase deficiency
- p.Met19fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Met1fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Met289fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Phe90fs Single submitter
- p.Ser248fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ser321fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr168Ter Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr241fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr241Ter Single submitter fructose-1,6-bisphosphatase deficiency
- p.Val115fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Val182fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ala177Asp No assertion criteria fructose-1,6-bisphosphatase deficiency
- p.Glu30Ter No assertion criteria fructose-1,6-bisphosphatase deficiency
- p.Phe194Ser No assertion criteria fructose-1,6-bisphosphatase deficiency
- p.Pro284Arg No assertion criteria fructose-1,6-bisphosphatase deficiency
Pathogenic/Likely pathogenic 7
- p.Asp119Asn Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Glu281Lys Multiple submitters FBP1-related disorder
- p.Gly164Ser Multiple submitters fructose-1,6-bisphosphatase deficiency ⚠
- p.Gly260Arg Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Lys204fs Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Lys206fs Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Pro235fs Multiple submitters fructose-1,6-bisphosphatase deficiency
Likely pathogenic 13
- c.427-2A>G Multiple submitters fructose-1,6-bisphosphatase deficiency
- c.426+1G>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.568-1G>T Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asn213Lys Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asn273fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asp119Glu Single submitter
- p.Cys117Arg Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gly294Val Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu304fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Lys87Ter Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ser170fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr165Ter Single submitter
- p.Val115Gly Single submitter disorder of glycogen metabolism
Conflicting classifications of pathogenicity 22
- c.170+4A>G Single submitter fructose-1,6-bisphosphatase deficiency
- c.334-15T>C Single submitter fructose-1,6-bisphosphatase deficiency
- c.705+5G>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.826-15G>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.826-15G>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.826-7T>C Single submitter fructose-1,6-bisphosphatase deficiency
- c.*121T>G Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ala217Thr Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Ala302= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Arg244Trp Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Asn79= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asp323fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Cys39_Thr40dup Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gly294Arg Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Leu329Pro Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Leu34= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Met249Leu Single submitter fructose-1,6-bisphosphatase deficiency
- p.Pro235= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr165= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr280= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Val224Ile Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Val306Ile Single submitter Inborn genetic diseases ⚠
Benign 20
- c.426+92G>A Multiple submitters
- c.427-133G>C Multiple submitters
- c.567+31G>A Multiple submitters fructose-1,6-bisphosphatase deficiency
- c.705+14C>T Multiple submitters fructose-1,6-bisphosphatase deficiency
- c.706-44_706-41del Multiple submitters
- c.826-131C>T Multiple submitters
- c.-194C>T Multiple submitters fructose-1,6-bisphosphatase deficiency
- c.-25+92G>A Multiple submitters
- c.*21C>T Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Arg218Lys Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Thr92= Multiple submitters fructose-1,6-bisphosphatase deficiency
- c.170+765C>T Single submitter
- c.333+114C>T Single submitter
- c.567+141G>A Single submitter
- c.705+18G>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.-25+109G>C Single submitter
- c.-25+313_-25+314insTTGG Single submitter
- c.-25+335A>T Single submitter
- c.-749G>C Single submitter
- c.*248del Single submitter
Benign/Likely benign 10
- c.426+7C>T Multiple submitters fructose-1,6-bisphosphatase deficiency
- c.826-22G>A Multiple submitters fructose-1,6-bisphosphatase deficiency
- c.826-9G>C Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Ala217= Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Gly320= Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Met289Leu Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Phe233Ile Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Pro266= Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Ser47= Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Val115= Multiple submitters fructose-1,6-bisphosphatase deficiency
Likely benign 149
- c.171-6C>T Multiple submitters fructose-1,6-bisphosphatase deficiency
- c.334-17C>A Multiple submitters fructose-1,6-bisphosphatase deficiency
- c.706-4G>A Multiple submitters fructose-1,6-bisphosphatase deficiency
- c.825+14C>G Multiple submitters fructose-1,6-bisphosphatase deficiency
- c.825+96G>A Multiple submitters
- p.Asp305= Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Lys202= Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Pro108= Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Thr28= Multiple submitters Inborn genetic diseases
- c.170+18C>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.170+19G>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.170+761C>G Single submitter
- c.170+7C>G Single submitter
- c.170+7C>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.170+9G>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.171-11G>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.171-11G>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.171-17G>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.171-20G>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.171-4G>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.333+15C>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.333+16C>G Single submitter fructose-1,6-bisphosphatase deficiency
- c.333+16C>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.333+17A>G Single submitter fructose-1,6-bisphosphatase deficiency
- c.333+26G>A Single submitter
- c.333+8T>C Single submitter fructose-1,6-bisphosphatase deficiency
- c.334-12T>C Single submitter fructose-1,6-bisphosphatase deficiency
- c.334-17C>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.334-5C>G Single submitter fructose-1,6-bisphosphatase deficiency
- c.426+12T>C Single submitter fructose-1,6-bisphosphatase deficiency
- c.426+14T>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.426+14T>C Single submitter fructose-1,6-bisphosphatase deficiency
- c.426+20G>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.426+7_426+23del Single submitter fructose-1,6-bisphosphatase deficiency
- c.426+8G>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.427-15TCTT[3] Single submitter fructose-1,6-bisphosphatase deficiency
- c.427-18A>G Single submitter fructose-1,6-bisphosphatase deficiency
- c.427-8T>G Single submitter
- c.567+15A>G Single submitter fructose-1,6-bisphosphatase deficiency
- c.567+9C>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.568-13C>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.705+14C>G Single submitter fructose-1,6-bisphosphatase deficiency
- c.705+15G>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.705+16G>C Single submitter fructose-1,6-bisphosphatase deficiency
- c.705+20G>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.705+9G>C Single submitter fructose-1,6-bisphosphatase deficiency
- c.706-10T>C Single submitter fructose-1,6-bisphosphatase deficiency
- c.706-11T>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.706-12C>G Single submitter fructose-1,6-bisphosphatase deficiency
- c.706-14G>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.706-9A>C Single submitter fructose-1,6-bisphosphatase deficiency
- c.825+11C>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.825+7G>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.826-12C>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.826-16C>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.826-17C>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.*4C>T Single submitter
- p.Ala103= Single submitter
- p.Ala163= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ala166= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ala223= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ala243= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ala267= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ala315= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ala48= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ala52= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ala61= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Arg158= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Arg26= Single submitter
- p.Arg314= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asn159= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asn213= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asn273Ser Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asn283= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asn65= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asp10= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asp122= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asp152= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asp198= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asp221= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asp323= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asp324= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Asp75= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Cys282= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gln4= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Glu150= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Glu21= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Glu301= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Glu327= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gly123= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gly192= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gly22= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gly247= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gly27= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gly29= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Gly62= Single submitter fructose-1,6-bisphosphatase deficiency
- p.His102= Single submitter fructose-1,6-bisphosphatase deficiency
- p.His254= Single submitter fructose-1,6-bisphosphatase deficiency
- p.His56= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ile104= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ile127= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ile191= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu130= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu14= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu167= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu174= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu187= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu196= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu279= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu31= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu319= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu326= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu326Val Single submitter
- p.Leu74= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu95= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Lys199= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Lys300= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Lys334Gln Single submitter Inborn genetic diseases
- p.Lys72= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Phe328= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Pro120= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Pro156= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Pro316= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Pro322= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ser132= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ser211= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ser336= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ser46= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ter339= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Thr13= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Thr135= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Thr145= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Thr298= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Thr32= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Thr40= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Thr9= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr114= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr140= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr168= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr210= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr216= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr259= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Tyr287= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Val224= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Val303= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Val317= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Val76= Single submitter fructose-1,6-bisphosphatase deficiency
- p.Val96= Single submitter fructose-1,6-bisphosphatase deficiency
- c.*9C>A No assertion criteria FBP1-related disorder
Uncertain significance 77
- p.Ala166Thr Multiple submitters ⚠
- p.Ala223Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala5Glu Multiple submitters Inborn genetic diseases ⚠
- p.Arg255Leu Multiple submitters fructose-1,6-bisphosphatase deficiency ⚠
- p.Asp324Asn Multiple submitters fructose-1,6-bisphosphatase deficiency ⚠
- p.Asp75Asn Multiple submitters ⚠
- p.Glu226Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly207Arg Multiple submitters fructose-1,6-bisphosphatase deficiency ⚠
- p.Phe233Leu Multiple submitters fructose-1,6-bisphosphatase deficiency ⚠
- p.Pro189= Multiple submitters fructose-1,6-bisphosphatase deficiency
- p.Pro235Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro316Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr297Ala Multiple submitters fructose-1,6-bisphosphatase deficiency ⚠
- p.Thr92Met Multiple submitters Inborn genetic diseases
- p.Tyr241His Multiple submitters fructose-1,6-bisphosphatase deficiency ⚠
- p.Val133Ile Multiple submitters fructose-1,6-bisphosphatase deficiency ⚠
- c.170+4del Single submitter fructose-1,6-bisphosphatase deficiency
- c.-130C>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.-154C>G Single submitter fructose-1,6-bisphosphatase deficiency
- c.-18G>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.-208C>G Single submitter fructose-1,6-bisphosphatase deficiency
- c.-215G>C Single submitter fructose-1,6-bisphosphatase deficiency
- c.-219C>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.-238G>A Single submitter fructose-1,6-bisphosphatase deficiency
- c.-246G>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.-59A>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.*127C>T Single submitter fructose-1,6-bisphosphatase deficiency
- c.*152C>T Single submitter fructose-1,6-bisphosphatase deficiency
- p.Ala103Thr Single submitter Inborn genetic diseases ⚠
- p.Ala153Asp Single submitter ⚠
- p.Ala162Thr Single submitter Inborn genetic diseases ⚠
- p.Ala166Ser Single submitter Inborn genetic diseases ⚠
- p.Ala267Thr Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Ala337Ser Single submitter Inborn genetic diseases ⚠
- p.Ala91Ser Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Arg16His Single submitter Inborn genetic diseases ⚠
- p.Arg244Gln Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Arg255Cys Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Arg26Cys Single submitter Inborn genetic diseases ⚠
- p.Asn159Lys Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Asn65Thr Single submitter Inborn genetic diseases ⚠
- p.Asp324Gly Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Asp69Gly Single submitter Abnormality of acid-base homeostasis ⚠
- p.Cys180Gly Single submitter Inborn genetic diseases ⚠
- p.Gln338fs Single submitter fructose-1,6-bisphosphatase deficiency
- p.Glu327Lys Single submitter Inborn genetic diseases ⚠
- p.Glu333Gly Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Glu333Lys Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Gly157Arg Single submitter Inborn genetic diseases ⚠
- p.Gly261Glu Single submitter Inborn genetic diseases ⚠
- p.Gly320Val Single submitter fructose-1,6-bisphosphatase deficiency
- p.Leu160Arg Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Leu160Val Single submitter Inborn genetic diseases ⚠
- p.Leu176Arg Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Leu326Pro Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Leu329Met Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Leu57Phe Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Leu81Pro Single submitter Inborn genetic diseases ⚠
- p.Lys142= Single submitter
- p.Lys151Gln Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Met178Val Single submitter ⚠
- p.Met186Thr Single submitter Inborn genetic diseases ⚠
- p.Pro108Leu Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Pro148His Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Pro189Ser Single submitter Inborn genetic diseases ⚠
- p.Pro222Ser Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Pro235Arg Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Pro235Gln Single submitter Inborn genetic diseases ⚠
- p.Pro322Ala Single submitter ⚠
- p.Ser211Asn Single submitter ⚠
- p.Ser211Thr Single submitter Inborn genetic diseases ⚠
- p.Ser321Phe Single submitter ⚠
- p.Thr309Lys Single submitter fructose-1,6-bisphosphatase deficiency ⚠
- p.Tyr265Cys Single submitter Inborn genetic diseases ⚠
- p.Val303Met Single submitter ⚠
- p.Val96Met Single submitter Inborn genetic diseases ⚠
- c.171-4630_171-4629insTCACTTTATTTTATTTTTTTTTTTTTGGAGACGGGAAGTCTCGCTTGTCGCCAGGATGGAGTGCAGTGGCGCAATCTCGGCTCAATGCAGGCTCCGACCCCCTGGGGTTCACGCCATTCTCCTGCCTGCAGACTCCGAGTAGCTGGGACTACAGGCGCCCGCCCACTCGCCCGGCTAATTTTTTTGTGTATTTTTAGTAGAGACGGGGTTCACCGTTGTGTTGAGCCAGGATGGTCTCGATCTCCCTGACCTCGGCTCCGCCCGTATCTTCGGGACTCCCAAAGTGTGGAGAGATTACAGGCGTGAGCCACCGCGGCCACGGCCTA No assertion criteria schizophrenia