FTO — 270 ClinVar variants
All ClinVar germline FTO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 6 Conflicting · 32 Benign · 4 Benign/Likely benign · 68 Likely benign · 157 Uncertain significance
Full FTO gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 96
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 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FTO p.Ala163Thr
Conflicting
Single submitter
lethal polymalformative syndrome, Boissel type
-
FTO p.Asn432Ser
Conflicting
Single submitter
Inborn genetic diseases
-
FTO p.Ser256Asn
Conflicting
Single submitter
lethal polymalformative syndrome, Boissel type
Predictors lean, ClinVar uncertain 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
FTO p.Ala286Val
Uncertain significance
Multiple submitters
lethal polymalformative syndrome, Boissel type
-
FTO p.Ala311Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTO p.Arg473Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTO p.Arg80Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTO p.Asn143Ser
Uncertain significance
Multiple submitters
lethal polymalformative syndrome, Boissel type
-
FTO p.Gln339His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTO p.Ile492Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTO p.Leu262Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTO p.Leu489Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTO p.Met400Val
Uncertain significance
Multiple submitters
lethal polymalformative syndrome, Boissel type
-
FTO p.Pro252Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTO p.Pro399Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTO p.Pro93Arg
Uncertain significance
Multiple submitters
lethal polymalformative syndrome, Boissel type
-
FTO p.Tyr30His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTO p.Val201Ile
Uncertain significance
Multiple submitters
lethal polymalformative syndrome, Boissel type
-
FTO p.Val428Met
Uncertain significance
Multiple submitters
lethal polymalformative syndrome, Boissel type
-
FTO p.Ala241Thr
Uncertain significance
Single submitter
lethal polymalformative syndrome, Boissel type
- FTO p.Arg316Trp Uncertain significance Single submitter
-
FTO p.Arg3Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.Arg3Pro Uncertain significance Single submitter
- FTO p.Arg431Ser Uncertain significance Single submitter
- FTO p.Arg84Ser Uncertain significance Single submitter
- FTO p.Arg96Cys Uncertain significance Single submitter
-
FTO p.Arg96His
Uncertain significance
Single submitter
Meniere disease
-
FTO p.Asn164His
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Asn387Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.Asp332Ala Uncertain significance Single submitter
-
FTO p.Asp348Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Asp35Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Gln314Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Gln43His
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.Gln86Arg Uncertain significance Single submitter
-
FTO p.Glu190Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Glu255Gly
Uncertain significance
Single submitter
lethal polymalformative syndrome, Boissel type
-
FTO p.Glu263Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Glu375Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Gly251Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.Gly264Asp Uncertain significance Single submitter
-
FTO p.His261Gln
Uncertain significance
Single submitter
lethal polymalformative syndrome, Boissel type
-
FTO p.His290Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.His305Arg Uncertain significance Single submitter
- FTO p.Ile148Val Uncertain significance Single submitter
- FTO p.Ile492Val Uncertain significance Single submitter
- FTO p.Leu146Met Uncertain significance Single submitter
-
FTO p.Leu203Ser
Uncertain significance
Single submitter
lethal polymalformative syndrome, Boissel type
-
FTO p.Leu301Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.Leu426Val Uncertain significance Single submitter
-
FTO p.Leu496His
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Leu51Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Lys126Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Lys478Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.Lys63Asn Uncertain significance Single submitter
-
FTO p.Lys88Arg
Uncertain significance
Single submitter
lethal polymalformative syndrome, Boissel type
- FTO p.Met223Val Uncertain significance Single submitter
- FTO p.Met297Val Uncertain significance Single submitter
-
FTO p.Phe317Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Phe69Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.Pro29Leu Uncertain significance Single submitter
- FTO p.Pro361Ser Uncertain significance Single submitter
- FTO p.Pro465Ser Uncertain significance Single submitter
-
FTO p.Pro505Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Thr138Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Thr202Ala
Uncertain significance
Single submitter
lethal polymalformative syndrome, Boissel type
-
FTO p.Thr320Ile
Uncertain significance
Single submitter
lethal polymalformative syndrome, Boissel type
-
FTO p.Thr32Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.Thr4Ala Uncertain significance Single submitter
- FTO p.Thr71Ile Uncertain significance Single submitter
- FTO p.Trp42Arg Uncertain significance Single submitter
-
FTO p.Tyr39Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Val272Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Val417Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Gln385Pro
Uncertain significance
No assertion criteria
Meniere disease
Predictors split 21
The independent predictors disagree with each other — read with care.
-
FTO p.Arg265Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTO p.Arg80Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- FTO p.Gly425Val Uncertain significance Multiple submitters
-
FTO p.His62Arg
Uncertain significance
Multiple submitters
lethal polymalformative syndrome, Boissel type
-
FTO p.Ser358Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTO p.Ala341Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Arg12Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Arg431Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.Arg455Ser Uncertain significance Single submitter
-
FTO p.Arg52Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.Asp300Gly Uncertain significance Single submitter
-
FTO p.Asp89Val
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.Cys326Arg Uncertain significance Single submitter
-
FTO p.Gly222Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Leu331Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Pro119Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTO p.Thr330Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- FTO p.Thr393Ile Uncertain significance Single submitter
-
FTO p.Thr436Pro
Uncertain significance
Single submitter
lethal polymalformative syndrome, Boissel type
- FTO p.Val421Phe Uncertain significance Single submitter
-
FTO p.Val493Phe
Uncertain significance
Single submitter
lethal polymalformative syndrome, Boissel type
All FTO variants
Pathogenic 1
- p.Ser319Phe No assertion criteria lethal polymalformative syndrome, Boissel type
Likely pathogenic 2
- c.124-1G>A Single submitter Body mass index quantitative trait locus 14
- p.Arg316Gln Single submitter lethal polymalformative syndrome, Boissel type
Conflicting classifications of pathogenicity 6
- c.1240-4G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.45+8G>T Single submitter lethal polymalformative syndrome, Boissel type
- p.Ala163Thr Single submitter lethal polymalformative syndrome, Boissel type ⚠
- p.Asn432Ser Single submitter Inborn genetic diseases ⚠
- p.Ser256Asn Single submitter lethal polymalformative syndrome, Boissel type ⚠
- p.Thr393= Single submitter lethal polymalformative syndrome, Boissel type
Benign 32
- c.*2108G>A Multiple submitters lethal polymalformative syndrome, Boissel type
- p.Ala134Thr Multiple submitters lethal polymalformative syndrome, Boissel type
- p.Ala405Val Multiple submitters lethal polymalformative syndrome, Boissel type
- p.Ile334= Multiple submitters lethal polymalformative syndrome, Boissel type
- c.1119+25del Single submitter
- c.1119+25dup Single submitter
- c.124-4485A>T Single submitter
- c.1364+10G>C Single submitter
- c.45+19del Single submitter
- c.46-30685T>G Single submitter
- c.46-34929C>T Single submitter
- c.751+1189G>A Single submitter
- c.751+736C>T Single submitter
- c.*1071G>C Single submitter lethal polymalformative syndrome, Boissel type
- c.*1082G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*116C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*1315C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*1331G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*1380G>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*1403C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*1860A>C Single submitter lethal polymalformative syndrome, Boissel type
- c.*2180C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*2210A>G Single submitter lethal polymalformative syndrome, Boissel type
- c.*2249A>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*2301G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*2334G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*2362G>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*2442A>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*2551G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*619A>C Single submitter lethal polymalformative syndrome, Boissel type
- c.*721T>G Single submitter lethal polymalformative syndrome, Boissel type
- c.*931C>A Single submitter lethal polymalformative syndrome, Boissel type
Benign/Likely benign 4
- p.Gly182Ala Multiple submitters lethal polymalformative syndrome, Boissel type
- p.Pro33= Multiple submitters lethal polymalformative syndrome, Boissel type
- p.Thr4= Multiple submitters
- p.Thr6= Multiple submitters
Likely benign 68
- c.1240-16G>T Multiple submitters
- c.*888G>A Multiple submitters lethal polymalformative syndrome, Boissel type
- p.Asp144Asn Multiple submitters lethal polymalformative syndrome, Boissel type
- p.Asp347= Multiple submitters
- p.Glu325Val Multiple submitters
- p.Pro213= Multiple submitters
- p.Pro486= Multiple submitters
- p.Val374= Multiple submitters
- c.1119+24_1119+25del Single submitter
- c.1119+24_1119+25dup Single submitter
- c.1119+9T>C Single submitter
- c.1120-18_1120-16del Single submitter
- c.1120-4A>T Single submitter
- c.1120-8G>T Single submitter
- c.123+14A>G Single submitter
- c.123+18T>G Single submitter
- c.123+5G>A Single submitter
- c.123+8A>G Single submitter
- c.124-13G>T Single submitter
- c.1364+18A>G Single submitter
- c.1365-11T>C Single submitter
- c.1365-15T>C Single submitter
- c.45+10G>A Single submitter
- c.46-30686_46-30685delinsTG Single submitter
- c.751+16G>C Single submitter
- c.975+8T>C Single submitter
- c.-140T>C Single submitter lethal polymalformative syndrome, Boissel type
- c.*1215G>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*1281G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*1724A>G Single submitter lethal polymalformative syndrome, Boissel type
- c.*39G>A Single submitter lethal polymalformative syndrome, Boissel type
- p.Ala133= Single submitter
- p.Ala241= Single submitter
- p.Ala311= Single submitter
- p.Arg316= Single submitter
- p.Arg449= Single submitter
- p.Asn124= Single submitter
- p.Asn186= Single submitter
- p.Asn200= Single submitter
- p.Asp332Gly Single submitter
- p.Asp394= Single submitter
- p.Cys104= Single submitter
- p.Gln306= Single submitter
- p.Glu217= Single submitter
- p.Gly187= Single submitter
- p.His232= Single submitter
- p.Ile148= Single submitter
- p.Ile434= Single submitter
- p.Ile492= Single submitter
- p.Leu146= Single submitter
- p.Leu236= Single submitter
- p.Leu418= Single submitter
- p.Leu44= Single submitter
- p.Leu448= Single submitter
- p.Lys391= Single submitter
- p.Phe376= Single submitter
- p.Pro288= Single submitter
- p.Pro5= Single submitter
- p.Ser441= Single submitter
- p.Thr115= Single submitter
- p.Thr128= Single submitter
- p.Thr26= Single submitter
- p.Thr304= Single submitter
- p.Thr328= Single submitter
- p.Tyr145= Single submitter
- p.Tyr333= Single submitter
- p.Val244= Single submitter
- c.1239+11682_1239+11684del No assertion criteria FTO-related disorder
Uncertain significance 157
- c.1239+6T>C Multiple submitters Inborn genetic diseases
- p.Ala286Val Multiple submitters lethal polymalformative syndrome, Boissel type ⚠
- p.Ala311Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg265Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg473Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg52Ter Multiple submitters
- p.Arg80Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg80Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn143Ser Multiple submitters lethal polymalformative syndrome, Boissel type ⚠
- p.Gln339His Multiple submitters Inborn genetic diseases ⚠
- p.Gly425Val Multiple submitters ⚠
- p.His62Arg Multiple submitters lethal polymalformative syndrome, Boissel type ⚠
- p.Ile492Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu262Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu489Phe Multiple submitters Inborn genetic diseases ⚠
- p.Met400Val Multiple submitters lethal polymalformative syndrome, Boissel type ⚠
- p.Pro252Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro399Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro93Arg Multiple submitters lethal polymalformative syndrome, Boissel type ⚠
- p.Ser358Phe Multiple submitters Inborn genetic diseases ⚠
- p.Trp270Ter Multiple submitters
- p.Tyr30His Multiple submitters Inborn genetic diseases ⚠
- p.Val201Ile Multiple submitters lethal polymalformative syndrome, Boissel type ⚠
- p.Val428Met Multiple submitters lethal polymalformative syndrome, Boissel type ⚠
- c.123+1G>A Single submitter
- c.751+1G>T Single submitter
- c.751+3A>G Single submitter lethal polymalformative syndrome, Boissel type
- c.976-4A>G Single submitter
- c.-122C>G Single submitter lethal polymalformative syndrome, Boissel type
- c.-137G>C Single submitter lethal polymalformative syndrome, Boissel type
- c.-168C>G Single submitter lethal polymalformative syndrome, Boissel type
- c.-186C>G Single submitter lethal polymalformative syndrome, Boissel type
- c.-210A>T Single submitter lethal polymalformative syndrome, Boissel type
- c.-43G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.-6G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*101C>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*1057G>C Single submitter lethal polymalformative syndrome, Boissel type
- c.*1061C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*1170A>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*1195T>C Single submitter lethal polymalformative syndrome, Boissel type
- c.*125A>G Single submitter lethal polymalformative syndrome, Boissel type
- c.*1280C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*1378C>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*1378C>G Single submitter lethal polymalformative syndrome, Boissel type
- c.*1379C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*1550C>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*1592G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*1704T>C Single submitter lethal polymalformative syndrome, Boissel type
- c.*1745G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*1829G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*1944G>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*195A>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*2002C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*2039C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*2058A>G Single submitter lethal polymalformative syndrome, Boissel type
- c.*2080A>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*2190A>G Single submitter lethal polymalformative syndrome, Boissel type
- c.*2192G>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*2291G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*2366C>G Single submitter lethal polymalformative syndrome, Boissel type
- c.*2401C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*2412C>G Single submitter lethal polymalformative syndrome, Boissel type
- c.*281G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*298C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*301G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*322T>C Single submitter lethal polymalformative syndrome, Boissel type
- c.*361C>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*394A>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*509G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*568C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*597G>A Single submitter lethal polymalformative syndrome, Boissel type
- c.*658A>G Single submitter lethal polymalformative syndrome, Boissel type
- c.*789C>T Single submitter lethal polymalformative syndrome, Boissel type
- c.*88C>A Single submitter lethal polymalformative syndrome, Boissel type
- p.Ala227Ser Single submitter Inborn genetic diseases
- p.Ala241Thr Single submitter lethal polymalformative syndrome, Boissel type ⚠
- p.Ala241Val Single submitter Inborn genetic diseases
- p.Ala341Thr Single submitter Inborn genetic diseases ⚠
- p.Arg12Gly Single submitter Inborn genetic diseases ⚠
- p.Arg316Trp Single submitter ⚠
- p.Arg388Ter Single submitter lethal polymalformative syndrome, Boissel type
- p.Arg3Cys Single submitter Inborn genetic diseases ⚠
- p.Arg3Pro Single submitter ⚠
- p.Arg431Gly Single submitter Inborn genetic diseases ⚠
- p.Arg431Ser Single submitter ⚠
- p.Arg455Ser Single submitter ⚠
- p.Arg52Gln Single submitter Inborn genetic diseases ⚠
- p.Arg84Ser Single submitter ⚠
- p.Arg96Cys Single submitter ⚠
- p.Arg96His Single submitter Meniere disease ⚠
- p.Asn164His Single submitter Inborn genetic diseases ⚠
- p.Asn387Ser Single submitter Inborn genetic diseases ⚠
- p.Asp300Gly Single submitter ⚠
- p.Asp332Ala Single submitter ⚠
- p.Asp348Val Single submitter Inborn genetic diseases ⚠
- p.Asp35Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp488_Leu489insAlaSerAlaValTer Single submitter
- p.Asp89Val Single submitter Inborn genetic diseases ⚠
- p.Cys326Arg Single submitter ⚠
- p.Gln210Ter Single submitter
- p.Gln314Lys Single submitter Inborn genetic diseases ⚠
- p.Gln43His Single submitter Inborn genetic diseases ⚠
- p.Gln86Arg Single submitter ⚠
- p.Glu190Asp Single submitter Inborn genetic diseases ⚠
- p.Glu255Gly Single submitter lethal polymalformative syndrome, Boissel type ⚠
- p.Glu263Lys Single submitter Inborn genetic diseases ⚠
- p.Glu375Lys Single submitter Inborn genetic diseases ⚠
- p.Gly222Val Single submitter Inborn genetic diseases ⚠
- p.Gly251Asp Single submitter Inborn genetic diseases ⚠
- p.Gly264Asp Single submitter ⚠
- p.His261Gln Single submitter lethal polymalformative syndrome, Boissel type ⚠
- p.His290Pro Single submitter Inborn genetic diseases ⚠
- p.His305Arg Single submitter ⚠
- p.Ile148Val Single submitter ⚠
- p.Ile492Val Single submitter ⚠
- p.Leu146Met Single submitter ⚠
- p.Leu203Ser Single submitter lethal polymalformative syndrome, Boissel type ⚠
- p.Leu301Pro Single submitter Inborn genetic diseases ⚠
- p.Leu331Ser Single submitter Inborn genetic diseases ⚠
- p.Leu426Val Single submitter ⚠
- p.Leu496His Single submitter Inborn genetic diseases ⚠
- p.Leu51Ile Single submitter Inborn genetic diseases ⚠
- p.Lys126Arg Single submitter Inborn genetic diseases ⚠
- p.Lys478Glu Single submitter Inborn genetic diseases ⚠
- p.Lys48Gln Single submitter lethal polymalformative syndrome, Boissel type
- p.Lys63Asn Single submitter ⚠
- p.Lys88Arg Single submitter lethal polymalformative syndrome, Boissel type ⚠
- p.Met1Val Single submitter lethal polymalformative syndrome, Boissel type
- p.Met223Val Single submitter ⚠
- p.Met297Val Single submitter ⚠
- p.Phe317Ile Single submitter Inborn genetic diseases ⚠
- p.Phe69Val Single submitter Inborn genetic diseases ⚠
- p.Pro119Leu Single submitter Inborn genetic diseases ⚠
- p.Pro29Leu Single submitter ⚠
- p.Pro361Ser Single submitter ⚠
- p.Pro465Ser Single submitter ⚠
- p.Pro486Leu Single submitter Inborn genetic diseases
- p.Pro505Thr Single submitter Inborn genetic diseases ⚠
- p.Ser58= Single submitter lethal polymalformative syndrome, Boissel type
- p.Thr138Ser Single submitter Inborn genetic diseases ⚠
- p.Thr150Asn Single submitter Inborn genetic diseases
- p.Thr202Ala Single submitter lethal polymalformative syndrome, Boissel type ⚠
- p.Thr320Ile Single submitter lethal polymalformative syndrome, Boissel type ⚠
- p.Thr32Ser Single submitter Inborn genetic diseases ⚠
- p.Thr330Ile Single submitter Inborn genetic diseases ⚠
- p.Thr393Ile Single submitter ⚠
- p.Thr436Pro Single submitter lethal polymalformative syndrome, Boissel type ⚠
- p.Thr4Ala Single submitter ⚠
- p.Thr71Ile Single submitter ⚠
- p.Trp42Arg Single submitter ⚠
- p.Tyr333Cys Single submitter
- p.Tyr39Cys Single submitter Inborn genetic diseases ⚠
- p.Val272Ala Single submitter Inborn genetic diseases ⚠
- p.Val417Met Single submitter Inborn genetic diseases ⚠
- p.Val421Phe Single submitter ⚠
- p.Val493Phe Single submitter lethal polymalformative syndrome, Boissel type ⚠
- p.Gln385Pro No assertion criteria Meniere disease ⚠