IFT80 — 472 ClinVar variants

All ClinVar germline IFT80 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 179 flagged for review →

19 Pathogenic · 4 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 25 Conflicting · 26 Benign · 10 Benign/Likely benign · 135 Likely benign · 235 Uncertain significance

Full IFT80 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 agree, ClinVar conflicts 7

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

IFT80 p.Ala111Val Conflicting Single submitter
short-rib thoracic dysplasia 10 with or without polydactyly
IFT80 p.Ala701Pro Conflicting Single submitter
Jeune syndrome
IFT80 p.Arg719His Conflicting Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Asn560Asp Conflicting Single submitter
Jeune syndrome
IFT80 p.Gln720Lys Conflicting Single submitter
Inborn genetic diseases
IFT80 p.Glu500Gly Conflicting Single submitter
connective tissue disorder
IFT80 p.Leu684Phe Conflicting Single submitter
Jeune syndrome

Predictors lean, ClinVar uncertain 129

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

IFT80 p.Ala236Val Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Arg316Gly Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Arg700Ser Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Asn224Tyr Uncertain significance Multiple submitters
connective tissue disorder
IFT80 p.Asn290Ser Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Asn307His Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Asp543Asn Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Glu499Lys Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Gly281Asp Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Gly448Val Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Gly727Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Ile171Val Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Ile172Asn Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Ile191Val Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Ile279Val Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Ile591Val Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Ile640Val Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Leu110Phe Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Lys135Gln Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Pro227Ala Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Pro231Ser Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Pro407Ser Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Pro410Leu Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Pro450Leu Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Ser198Leu Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Ser45Arg Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Ser68Asn Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Thr351Met Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Thr44Asn Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Thr517Ile Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Thr572Ile Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Trp22Arg Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Tyr637Cys Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Val124Ala Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Val646Phe Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Ala111Thr Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Ala206Asp Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Ala276Thr Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Ala317Asp Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Ala317Thr Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Ala382Thr Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Ala445Thr Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Ala636Val Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Arg316Lys Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Arg336Gly Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Arg384Gly Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Arg477Gly Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Arg542Gly Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Arg734Gln Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Arg761Thr Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Asn200Ser Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Asn343Ser Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Asn475Ser Uncertain significance Single submitter
IFT80 p.Asn519Ser Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Asn536Ser Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Asp127Tyr Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Asp209Glu Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Asp216Gly Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Asp256Glu Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Asp433Asn Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Asp516Asn Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Cys106Ser Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Cys19Tyr Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Gln146Arg Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Gln319Arg Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Gln36Arg Uncertain significance Single submitter
IFT80 p.Gln673Arg Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Glu15Gly Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Glu400Lys Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Glu499Gln Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Gly167Ser Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Gly207Ser Uncertain significance Single submitter
Jeune syndrome
IFT80 p.His13Asp Uncertain significance Single submitter
Jeune syndrome
IFT80 p.His187Tyr Uncertain significance Single submitter
Jeune syndrome
IFT80 p.His459Arg Uncertain significance Single submitter
Jeune syndrome
IFT80 p.His664Arg Uncertain significance Single submitter
IFT80 p.Ile172Val Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Ile275Val Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Ile431Thr Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Ile502Thr Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Ile585Leu Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Ile60Val Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Ile665Leu Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Ile689Asn Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Leu16Phe Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Leu204Phe Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Leu417Met Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Leu680Phe Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Leu69Trp Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Leu8Phe Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Lys12Arg Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Lys161Asn Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Lys193Glu Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Lys372Arg Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Lys460Glu Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Lys494Glu Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Lys52Asn Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Lys559Glu Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Lys645Glu Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Lys748Asn Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Lys771Asn Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Met318Leu Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Met616Thr Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Met623Thr Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Phe89Ser Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Pro11Ser Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Pro157Thr Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Pro227Leu Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Pro239Ser Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Pro410Arg Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Pro410His Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Pro777Ser Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Ser377Gly Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Ser565Asn Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Ser579Ala Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Thr165Ala Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Thr351Ala Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Thr517Ala Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Thr631Ala Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Thr725Ile Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Trp40Arg Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Tyr164Phe Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Tyr344His Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Tyr356Cys Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Tyr696His Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Val214Ile Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Val246Leu Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Val493Ala Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Leu680Pro Uncertain significance No assertion criteria
IFT80-related disorder

Predictors split 43

The independent predictors disagree with each other — read with care.

IFT80 p.Ala154Val Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Ala622Thr Benign/Likely benign Multiple submitters
Jeune syndrome
IFT80 p.Arg220Cys Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Arg220His Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Arg528Leu Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Arg609Cys Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Thr447Ala Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Val299Ala Uncertain significance Multiple submitters
Jeune syndrome
IFT80 p.Val509Leu Uncertain significance Multiple submitters
asphyxiating thoracic dystrophy 2
IFT80 p.Val611Leu Uncertain significance Multiple submitters
Inborn genetic diseases
IFT80 p.Ala120Gly Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Ala638Gly Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Arg253Cys Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Arg402Gly Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Arg528Gln Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Arg700Lys Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Asp188Gly Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Asp240Ala Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Asp469Gly Conflicting Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Asp469Tyr Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Cys31Tyr Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Gln129Glu Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Gln183Leu Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Glu208Asp Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Glu229Ala Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Gly374Glu Uncertain significance Single submitter
Jeune syndrome
IFT80 p.His250Leu Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Ile37Met Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Ile429Thr Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Leu254Val Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Leu380Gln Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Leu620Val Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Phe386Leu Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Phe409Leu Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Phe496Leu Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Pro267Ser Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Ser406Tyr Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Ser423Cys Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Thr365Ile Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Thr507Ile Uncertain significance Single submitter
Jeune syndrome
IFT80 p.Tyr223Cys Uncertain significance Single submitter
asphyxiating thoracic dystrophy 2
IFT80 p.Val162Ala Uncertain significance Single submitter
Inborn genetic diseases
IFT80 p.Val646Ile Uncertain significance Single submitter
Jeune syndrome

All IFT80 variants

Pathogenic 19

c.639+1del Single submitter Jeune syndrome
p.Ala590fs Single submitter Jeune syndrome
p.Asn325delinsXaaXaaXaaPhePheTer Single submitter Jeune syndrome
p.Gln76fs Single submitter Jeune syndrome
p.Glu10Ter Single submitter Jeune syndrome
p.Glu300fs Single submitter Jeune syndrome
p.Glu400Ter Single submitter asphyxiating thoracic dystrophy 2
p.Ile463fs Single submitter Jeune syndrome
p.Leu43Ter Single submitter Jeune syndrome
p.Lys707Ter Single submitter Jeune syndrome
p.Met318fs Single submitter Jeune syndrome
p.Met623fs Single submitter Jeune syndrome
p.Ser101fs Single submitter Jeune syndrome
p.Trp237Ter Single submitter Jeune syndrome
p.Trp40Ter Single submitter Jeune syndrome
p.Trp698Ter Single submitter Jeune syndrome
p.Tyr356fs Single submitter Jeune syndrome
p.Tyr708Ter Single submitter Jeune syndrome
p.Gly241Arg No assertion criteria asphyxiating thoracic dystrophy 2

Pathogenic/Likely pathogenic 4

p.Arg495Ter Multiple submitters Jeune syndrome
p.Trp155Ter Multiple submitters Jeune syndrome
p.Ile191Asn No assertion criteria Jeune syndrome
p.Leu163fs No assertion criteria Beemer-Langer syndrome

Likely pathogenic 18

c.1152-1G>C Single submitter Jeune syndrome
c.1380+1G>T Single submitter asphyxiating thoracic dystrophy 2
c.1380+2del Single submitter Jeune syndrome
c.1516+1G>C Single submitter Jeune syndrome
c.1664+1G>A Single submitter Jeune syndrome
c.259+1G>T Single submitter asphyxiating thoracic dystrophy 2
c.370+2T>G Single submitter asphyxiating thoracic dystrophy 2
c.778-1G>A Single submitter IFT80-related disorder
c.957+1G>A Single submitter Jeune syndrome
p.Gly683Val Single submitter asphyxiating thoracic dystrophy 2
p.Ile665fs Single submitter asphyxiating thoracic dystrophy 2
p.Leu182fs Single submitter asphyxiating thoracic dystrophy 2
p.Leu252fs Single submitter asphyxiating thoracic dystrophy 2
p.Leu549del Single submitter asphyxiating thoracic dystrophy 2
p.Lys306Ter Single submitter IFT80-related disorder
p.Met1Val Single submitter asphyxiating thoracic dystrophy 2
p.Pro366fs Single submitter asphyxiating thoracic dystrophy 2
p.Thr83fs Single submitter asphyxiating thoracic dystrophy 2

Conflicting classifications of pathogenicity 25

c.1381-14dup Single submitter asphyxiating thoracic dystrophy 2
c.2099+4A>G Single submitter Jeune syndrome
c.2224-9C>T Single submitter asphyxiating thoracic dystrophy 2
c.371-19T>G Single submitter Jeune syndrome
c.639+5A>G Single submitter connective tissue disorder
p.Ala111Val Single submitter short-rib thoracic dysplasia 10 with or without polydactyly ⚠
p.Ala701Pro Single submitter Jeune syndrome ⚠
p.Arg719His Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Arg734Ter Single submitter Jeune syndrome
p.Asn268= Single submitter asphyxiating thoracic dystrophy 2
p.Asn560Asp Single submitter Jeune syndrome ⚠
p.Asp469Gly Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Gln720Lys Single submitter Inborn genetic diseases ⚠
p.Glu304= Single submitter Jeune syndrome
p.Glu500Gly Single submitter connective tissue disorder ⚠
p.Gly156= Single submitter asphyxiating thoracic dystrophy 2
p.Ile368= Single submitter asphyxiating thoracic dystrophy 2
p.Ile563= Single submitter asphyxiating thoracic dystrophy 2
p.Leu442= Single submitter Jeune syndrome
p.Leu684Phe Single submitter Jeune syndrome ⚠
p.Ser769= Single submitter Jeune syndrome
p.Thr269= Single submitter connective tissue disorder
p.Val20= Single submitter Jeune syndrome
p.Val293= Single submitter Jeune syndrome
p.Val299= Single submitter Jeune syndrome

Benign 26

c.1151+22C>T Multiple submitters
c.1315+29C>G Multiple submitters
c.1316-21A>G Multiple submitters
c.1380+144C>T Multiple submitters
c.1926+13T>C Multiple submitters Jeune syndrome
c.2224-10dup Multiple submitters Jeune syndrome
c.778-177C>T Multiple submitters
c.958-63C>T Multiple submitters
c.*42G>A Multiple submitters asphyxiating thoracic dystrophy 2
p.Ser359Phe Multiple submitters connective tissue disorder
c.1076+164G>A Single submitter
c.1076+213C>T Single submitter
c.1665-7del Single submitter Jeune syndrome
c.1665-7dup Single submitter Jeune syndrome
c.1836+123del Single submitter
c.2099+149A>G Single submitter
c.370+198C>A Single submitter
c.370+231C>T Single submitter
c.371-11del Single submitter Jeune syndrome
c.371-11dup Single submitter Jeune syndrome
c.38-150dup Single submitter
c.549+16T>C Single submitter Jeune syndrome
c.639+171C>T Single submitter
c.-40C>T Single submitter asphyxiating thoracic dystrophy 2
c.-46-213T>A Single submitter
c.*1204G>A Single submitter asphyxiating thoracic dystrophy 2

Benign/Likely benign 10

c.2224-19_2224-18dup Multiple submitters Jeune syndrome
c.259+18A>G Multiple submitters Jeune syndrome
c.440-18del Multiple submitters Jeune syndrome
c.440-27dup Multiple submitters Jeune syndrome
c.550-18T>C Multiple submitters Jeune syndrome
c.777+20A>G Multiple submitters asphyxiating thoracic dystrophy 2
p.Ala154= Multiple submitters connective tissue disorder
p.Ala622Thr Multiple submitters Jeune syndrome ⚠
p.Lys94= Multiple submitters connective tissue disorder
p.Thr311= Multiple submitters asphyxiating thoracic dystrophy 2

Likely benign 135

c.1076+8T>C Multiple submitters Jeune syndrome
c.2223+20G>A Multiple submitters Jeune syndrome
p.Asn515= Multiple submitters Jeune syndrome
p.Pro450= Multiple submitters Jeune syndrome
p.Val294Ile Multiple submitters Jeune syndrome
p.Val71= Multiple submitters Jeune syndrome
c.1076+14A>G Single submitter Jeune syndrome
c.1151+11A>G Single submitter Jeune syndrome
c.1151+14T>C Single submitter Jeune syndrome
c.1151+15T>A Single submitter Jeune syndrome
c.1151+19_1151+22del Single submitter Jeune syndrome
c.1151+8A>G Single submitter Jeune syndrome
c.1315+14T>C Single submitter Jeune syndrome
c.1315+17A>G Single submitter Jeune syndrome
c.1316-4del Single submitter Jeune syndrome
c.1380+10A>G Single submitter Jeune syndrome
c.1380+15C>A Single submitter Jeune syndrome
c.1380+15C>T Single submitter Jeune syndrome
c.1381-15T>A Single submitter Jeune syndrome
c.1381-6T>A Single submitter Jeune syndrome
c.1516+17A>G Single submitter Jeune syndrome
c.1516+18C>T Single submitter Jeune syndrome
c.1517-10T>C Single submitter Jeune syndrome
c.1517-11T>C Single submitter Jeune syndrome
c.1517-9_1517-7del Single submitter Jeune syndrome
c.1664+15C>T Single submitter Jeune syndrome
c.1664+16G>A Single submitter Jeune syndrome
c.1664+8T>C Single submitter Jeune syndrome
c.1665-12T>A Single submitter Jeune syndrome
c.1836+10A>G Single submitter Jeune syndrome
c.1836+8A>G Single submitter Jeune syndrome
c.1837-14A>T Single submitter Jeune syndrome
c.1926+11A>G Single submitter Jeune syndrome
c.1926+13T>G Single submitter
c.1927-9_1927-5del Single submitter Jeune syndrome
c.2099+19A>C Single submitter Jeune syndrome
c.2100-13T>C Single submitter Jeune syndrome
c.2100-17T>C Single submitter Jeune syndrome
c.2223+10del Single submitter Jeune syndrome
c.2223+20G>C Single submitter Jeune syndrome
c.2224-13_2224-10del Single submitter Jeune syndrome
c.2224-18T>C Single submitter Jeune syndrome
c.2224-20_2224-17del Single submitter Jeune syndrome
c.2224-20dup Single submitter Jeune syndrome
c.2224-7A>G Single submitter Jeune syndrome
c.259+16_259+18del Single submitter Jeune syndrome
c.260-14G>A Single submitter Jeune syndrome
c.260-8T>G Single submitter Jeune syndrome
c.37+15C>T Single submitter Jeune syndrome
c.37+16T>A Single submitter Jeune syndrome
c.37+20A>G Single submitter Jeune syndrome
c.371-10C>T Single submitter
c.371-11T>C Single submitter Jeune syndrome
c.371-20A>T Single submitter Jeune syndrome
c.371-4A>T Single submitter
c.371-7T>C Single submitter Jeune syndrome
c.371-8C>T Single submitter
c.371-9C>T Single submitter
c.38-17C>T Single submitter Jeune syndrome
c.38-9dup Single submitter Jeune syndrome
c.440-10C>T Single submitter
c.440-12T>G Single submitter asphyxiating thoracic dystrophy 2
c.440-18T>C Single submitter Jeune syndrome
c.440-22_440-18del Single submitter Jeune syndrome
c.440-7C>T Single submitter
c.440-8T>A Single submitter Jeune syndrome
c.440-9A>C Single submitter Jeune syndrome
c.549+7C>G Single submitter Jeune syndrome
c.550-14_550-12del Single submitter Jeune syndrome
c.550-18del Single submitter Jeune syndrome
c.639+10G>A Single submitter Jeune syndrome
c.639+18T>C Single submitter Jeune syndrome
c.639+8A>G Single submitter Jeune syndrome
c.639+9T>C Single submitter Jeune syndrome
c.640-4G>A Single submitter Jeune syndrome
c.640-8T>A Single submitter Jeune syndrome
c.778-17T>G Single submitter Jeune syndrome
c.778-4C>T Single submitter Jeune syndrome
c.957+17A>T Single submitter Jeune syndrome
c.957+20T>C Single submitter Jeune syndrome
c.957+8T>C Single submitter Jeune syndrome
c.958-7T>C Single submitter Jeune syndrome
c.958-8T>A Single submitter Jeune syndrome
c.*1089T>C Single submitter asphyxiating thoracic dystrophy 2
p.Ala120= Single submitter Jeune syndrome
p.Ala675= Single submitter Jeune syndrome
p.Arg253= Single submitter Jeune syndrome
p.Asn362= Single submitter Jeune syndrome
p.Asp127= Single submitter Jeune syndrome
p.Gln129= Single submitter Jeune syndrome
p.Gln681= Single submitter Jeune syndrome
p.Gln768= Single submitter Jeune syndrome
p.Glu117= Single submitter Jeune syndrome
p.Glu462= Single submitter Jeune syndrome
p.Gly219= Single submitter Jeune syndrome
p.Gly270= Single submitter Jeune syndrome
p.Gly774= Single submitter Jeune syndrome
p.His346= Single submitter Jeune syndrome
p.Ile279= Single submitter Jeune syndrome
p.Ile431= Single submitter Jeune syndrome
p.Ile440= Single submitter Jeune syndrome
p.Ile520= Single submitter Jeune syndrome
p.Ile691= Single submitter Jeune syndrome
p.Leu243= Single submitter Jeune syndrome
p.Leu545= Single submitter Jeune syndrome
p.Leu549= Single submitter Jeune syndrome
p.Leu580= Single submitter Jeune syndrome
p.Leu666= Single submitter Jeune syndrome
p.Leu695= Single submitter Jeune syndrome
p.Leu702= Single submitter asphyxiating thoracic dystrophy 2
p.Leu8= Single submitter Jeune syndrome
p.Lys161= Single submitter Jeune syndrome
p.Lys408= Single submitter Jeune syndrome
p.Phe273= Single submitter Jeune syndrome
p.Pro221= Single submitter Jeune syndrome
p.Pro587= Single submitter Jeune syndrome
p.Ser225= Single submitter
p.Ser248= Single submitter Jeune syndrome
p.Ser405= Single submitter Jeune syndrome
p.Ser599= Single submitter Jeune syndrome
p.Ser764= Single submitter Jeune syndrome
p.Ser79= Single submitter
p.Thr313= Single submitter Jeune syndrome
p.Thr447= Single submitter Jeune syndrome
p.Thr47= Single submitter Jeune syndrome
p.Thr491= Single submitter Jeune syndrome
p.Thr511= Single submitter
p.Thr548= Single submitter Jeune syndrome
p.Tyr116= Single submitter Jeune syndrome
p.Tyr218= Single submitter Jeune syndrome
p.Tyr738Phe Single submitter Jeune syndrome
p.Val214= Single submitter Jeune syndrome
p.Val310= Single submitter Jeune syndrome
p.Val389= Single submitter Jeune syndrome
p.Val678= Single submitter Jeune syndrome

Uncertain significance 235

c.1076+6C>A Multiple submitters Jeune syndrome
c.1836+5T>C Multiple submitters Jeune syndrome
c.370+6T>C Multiple submitters Jeune syndrome
c.*108A>G Multiple submitters asphyxiating thoracic dystrophy 2
p.Ala154Val Multiple submitters Inborn genetic diseases ⚠
p.Ala236Val Multiple submitters Jeune syndrome ⚠
p.Arg220Cys Multiple submitters Jeune syndrome ⚠
p.Arg220His Multiple submitters Jeune syndrome ⚠
p.Arg316Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg334His Multiple submitters Jeune syndrome
p.Arg402Cys Multiple submitters Jeune syndrome
p.Arg528Leu Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Arg609Cys Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Arg700Ser Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Asn224Tyr Multiple submitters connective tissue disorder ⚠
p.Asn290Ser Multiple submitters Jeune syndrome ⚠
p.Asn307His Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Asp543Asn Multiple submitters Jeune syndrome ⚠
p.Gln768Ter Multiple submitters Jeune syndrome
p.Glu499Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly219Ser Multiple submitters asphyxiating thoracic dystrophy 2
p.Gly281Asp Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Gly448Val Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Gly70Asp Multiple submitters asphyxiating thoracic dystrophy 2
p.Gly727Ser Multiple submitters Inborn genetic diseases ⚠
p.His90Arg Multiple submitters Inborn genetic diseases
p.Ile132Leu Multiple submitters Inborn genetic diseases
p.Ile171Val Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Ile172Asn Multiple submitters Inborn genetic diseases ⚠
p.Ile191Val Multiple submitters Jeune syndrome ⚠
p.Ile279Val Multiple submitters Inborn genetic diseases ⚠
p.Ile591Val Multiple submitters Inborn genetic diseases ⚠
p.Ile640Val Multiple submitters Jeune syndrome ⚠
p.Leu110Phe Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Lys135Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys67Glu Multiple submitters asphyxiating thoracic dystrophy 2
p.Phe80_Ser84delinsTrpValCys Multiple submitters Jeune syndrome
p.Pro227Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro231Ser Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Pro407Ser Multiple submitters Jeune syndrome ⚠
p.Pro410Leu Multiple submitters Jeune syndrome ⚠
p.Pro450Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser198Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser45Arg Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Ser68Asn Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Thr351Met Multiple submitters Jeune syndrome ⚠
p.Thr428Asn Multiple submitters Jeune syndrome
p.Thr447Ala Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Thr44Asn Multiple submitters Jeune syndrome ⚠
p.Thr517Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr572Ile Multiple submitters Jeune syndrome ⚠
p.Trp22Arg Multiple submitters Jeune syndrome ⚠
p.Tyr637Cys Multiple submitters Inborn genetic diseases ⚠
p.Val124Ala Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Val299Ala Multiple submitters Jeune syndrome ⚠
p.Val376Leu Multiple submitters Jeune syndrome
p.Val509Leu Multiple submitters asphyxiating thoracic dystrophy 2 ⚠
p.Val611Leu Multiple submitters Inborn genetic diseases ⚠
p.Val646Phe Multiple submitters Jeune syndrome ⚠
c.1151+13G>A Single submitter asphyxiating thoracic dystrophy 2
c.1316-13A>C Single submitter asphyxiating thoracic dystrophy 2
c.440-18T>A Single submitter Jeune syndrome
c.549+4C>G Single submitter asphyxiating thoracic dystrophy 2
c.550-3_550-2del Single submitter asphyxiating thoracic dystrophy 2
c.777+19C>T Single submitter Jeune syndrome
c.777+5G>A Single submitter Jeune syndrome
c.957+15C>T Single submitter asphyxiating thoracic dystrophy 2
c.-98G>C Single submitter asphyxiating thoracic dystrophy 2
c.*102C>A Single submitter asphyxiating thoracic dystrophy 2
c.*104G>A Single submitter asphyxiating thoracic dystrophy 2
c.*1110A>G Single submitter asphyxiating thoracic dystrophy 2
c.*1121T>C Single submitter asphyxiating thoracic dystrophy 2
c.*1222T>C Single submitter asphyxiating thoracic dystrophy 2
c.*1254C>T Single submitter asphyxiating thoracic dystrophy 2
c.*130G>C Single submitter asphyxiating thoracic dystrophy 2
c.*1365C>G Single submitter asphyxiating thoracic dystrophy 2
c.*318C>T Single submitter asphyxiating thoracic dystrophy 2
c.*319G>A Single submitter asphyxiating thoracic dystrophy 2
c.*397A>G Single submitter asphyxiating thoracic dystrophy 2
c.*417A>G Single submitter asphyxiating thoracic dystrophy 2
c.*551A>G Single submitter asphyxiating thoracic dystrophy 2
c.*659C>G Single submitter asphyxiating thoracic dystrophy 2
c.*677A>G Single submitter asphyxiating thoracic dystrophy 2
c.*740G>T Single submitter asphyxiating thoracic dystrophy 2
c.*767G>C Single submitter asphyxiating thoracic dystrophy 2
c.*792T>G Single submitter asphyxiating thoracic dystrophy 2
c.*844G>T Single submitter asphyxiating thoracic dystrophy 2
c.*887T>C Single submitter asphyxiating thoracic dystrophy 2
c.*937A>T Single submitter asphyxiating thoracic dystrophy 2
c.*944A>G Single submitter asphyxiating thoracic dystrophy 2
c.*94A>G Single submitter asphyxiating thoracic dystrophy 2
p.Ala111Thr Single submitter Jeune syndrome ⚠
p.Ala120Gly Single submitter Inborn genetic diseases ⚠
p.Ala206Asp Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Ala276Thr Single submitter Inborn genetic diseases ⚠
p.Ala317Asp Single submitter Jeune syndrome ⚠
p.Ala317Thr Single submitter Jeune syndrome ⚠
p.Ala382Thr Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Ala445Thr Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Ala467= Single submitter asphyxiating thoracic dystrophy 2
p.Ala636Val Single submitter Jeune syndrome ⚠
p.Ala638Gly Single submitter Jeune syndrome ⚠
p.Ala739= Single submitter asphyxiating thoracic dystrophy 2
p.Arg113= Single submitter asphyxiating thoracic dystrophy 2
p.Arg253Cys Single submitter Jeune syndrome ⚠
p.Arg253Leu Single submitter asphyxiating thoracic dystrophy 2
p.Arg316Lys Single submitter Inborn genetic diseases ⚠
p.Arg336Gly Single submitter Jeune syndrome ⚠
p.Arg384Gly Single submitter Jeune syndrome ⚠
p.Arg402Gly Single submitter Inborn genetic diseases ⚠
p.Arg432Thr Single submitter Jeune syndrome
p.Arg477Gly Single submitter Inborn genetic diseases ⚠
p.Arg528Gln Single submitter Jeune syndrome ⚠
p.Arg542Gly Single submitter Jeune syndrome ⚠
p.Arg700Lys Single submitter Jeune syndrome ⚠
p.Arg734Gln Single submitter Inborn genetic diseases ⚠
p.Arg761Thr Single submitter Jeune syndrome ⚠
p.Asn200Ser Single submitter Jeune syndrome ⚠
p.Asn343Ser Single submitter Inborn genetic diseases ⚠
p.Asn475Ser Single submitter ⚠
p.Asn519Ser Single submitter Jeune syndrome ⚠
p.Asn536Ser Single submitter Jeune syndrome ⚠
p.Asp127Tyr Single submitter Jeune syndrome ⚠
p.Asp188Gly Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Asp209Glu Single submitter Jeune syndrome ⚠
p.Asp216Gly Single submitter Inborn genetic diseases ⚠
p.Asp240Ala Single submitter Jeune syndrome ⚠
p.Asp256Glu Single submitter Inborn genetic diseases ⚠
p.Asp433Asn Single submitter Jeune syndrome ⚠
p.Asp469Tyr Single submitter Jeune syndrome ⚠
p.Asp516Asn Single submitter Jeune syndrome ⚠
p.Cys106Ser Single submitter Jeune syndrome ⚠
p.Cys19Tyr Single submitter Inborn genetic diseases ⚠
p.Cys210Tyr Single submitter Inborn genetic diseases
p.Cys31Tyr Single submitter Jeune syndrome ⚠
p.Gln129Glu Single submitter Inborn genetic diseases ⚠
p.Gln146Arg Single submitter Jeune syndrome ⚠
p.Gln183Leu Single submitter Jeune syndrome ⚠
p.Gln319Arg Single submitter Jeune syndrome ⚠
p.Gln36Arg Single submitter ⚠
p.Gln673Arg Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Glu15Gly Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Glu208Asp Single submitter Jeune syndrome ⚠
p.Glu229Ala Single submitter Jeune syndrome ⚠
p.Glu400Lys Single submitter Jeune syndrome ⚠
p.Glu499Gln Single submitter Inborn genetic diseases ⚠
p.Glu659Lys Single submitter Inborn genetic diseases
p.Gly167Ser Single submitter Inborn genetic diseases ⚠
p.Gly207Ser Single submitter Jeune syndrome ⚠
p.Gly374Glu Single submitter Jeune syndrome ⚠
p.His13Asp Single submitter Jeune syndrome ⚠
p.His187Tyr Single submitter Jeune syndrome ⚠
p.His250Leu Single submitter Jeune syndrome ⚠
p.His459Arg Single submitter Jeune syndrome ⚠
p.His664Arg Single submitter ⚠
p.Ile172Val Single submitter Jeune syndrome ⚠
p.Ile203Phe Single submitter Inborn genetic diseases
p.Ile275Thr Single submitter Jeune syndrome
p.Ile275Val Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Ile37Met Single submitter Inborn genetic diseases ⚠
p.Ile429Thr Single submitter Jeune syndrome ⚠
p.Ile431Thr Single submitter Jeune syndrome ⚠
p.Ile502Thr Single submitter Inborn genetic diseases ⚠
p.Ile585Leu Single submitter Jeune syndrome ⚠
p.Ile60Val Single submitter Jeune syndrome ⚠
p.Ile665Leu Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Ile689Asn Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Leu16Phe Single submitter Jeune syndrome ⚠
p.Leu204Phe Single submitter Jeune syndrome ⚠
p.Leu254Val Single submitter Jeune syndrome ⚠
p.Leu380Gln Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Leu417Met Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Leu464_Ile466del Single submitter Jeune syndrome
p.Leu620Val Single submitter Jeune syndrome ⚠
p.Leu680Phe Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Leu69Trp Single submitter Jeune syndrome ⚠
p.Leu8Phe Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Lys12= Single submitter Jeune syndrome
p.Lys12Arg Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Lys161Asn Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Lys193Glu Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Lys372Arg Single submitter Jeune syndrome ⚠
p.Lys438_Ile439insTer Single submitter
p.Lys460Glu Single submitter Inborn genetic diseases ⚠
p.Lys494Glu Single submitter Inborn genetic diseases ⚠
p.Lys52Asn Single submitter Jeune syndrome ⚠
p.Lys559Glu Single submitter Jeune syndrome ⚠
p.Lys612= Single submitter Jeune syndrome
p.Lys645Glu Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Lys72Glu Single submitter Inborn genetic diseases
p.Lys748Asn Single submitter Jeune syndrome ⚠
p.Lys771Asn Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Met318Leu Single submitter Jeune syndrome ⚠
p.Met616Thr Single submitter Jeune syndrome ⚠
p.Met623Thr Single submitter Jeune syndrome ⚠
p.Met630Thr Single submitter asphyxiating thoracic dystrophy 2
p.Phe386Leu Single submitter Jeune syndrome ⚠
p.Phe409Leu Single submitter Inborn genetic diseases ⚠
p.Phe496Leu Single submitter Jeune syndrome ⚠
p.Phe89Ser Single submitter Jeune syndrome ⚠
p.Pro11Ser Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Pro157Thr Single submitter Jeune syndrome ⚠
p.Pro227Leu Single submitter Jeune syndrome ⚠
p.Pro239Ser Single submitter Inborn genetic diseases ⚠
p.Pro267Ser Single submitter Inborn genetic diseases ⚠
p.Pro410Arg Single submitter Jeune syndrome ⚠
p.Pro410His Single submitter Jeune syndrome ⚠
p.Pro777Ser Single submitter Jeune syndrome ⚠
p.Ser341Tyr Single submitter asphyxiating thoracic dystrophy 2
p.Ser377Gly Single submitter Jeune syndrome ⚠
p.Ser406Tyr Single submitter Inborn genetic diseases ⚠
p.Ser423Cys Single submitter Inborn genetic diseases ⚠
p.Ser565Asn Single submitter Jeune syndrome ⚠
p.Ser579Ala Single submitter Jeune syndrome ⚠
p.Thr165Ala Single submitter Inborn genetic diseases ⚠
p.Thr351Ala Single submitter Inborn genetic diseases ⚠
p.Thr365Ile Single submitter Jeune syndrome ⚠
p.Thr507Ile Single submitter Jeune syndrome ⚠
p.Thr517Ala Single submitter Jeune syndrome ⚠
p.Thr631Ala Single submitter Jeune syndrome ⚠
p.Thr725Ile Single submitter Jeune syndrome ⚠
p.Trp40Arg Single submitter Jeune syndrome ⚠
p.Tyr164Phe Single submitter Inborn genetic diseases ⚠
p.Tyr223Cys Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Tyr344His Single submitter Jeune syndrome ⚠
p.Tyr356Cys Single submitter asphyxiating thoracic dystrophy 2 ⚠
p.Tyr696His Single submitter Jeune syndrome ⚠
p.Tyr735= Single submitter asphyxiating thoracic dystrophy 2
p.Val162Ala Single submitter Inborn genetic diseases ⚠
p.Val214Ile Single submitter Jeune syndrome ⚠
p.Val246Leu Single submitter Jeune syndrome ⚠
p.Val299Gly Single submitter
p.Val493Ala Single submitter Inborn genetic diseases ⚠
p.Val646Ile Single submitter Jeune syndrome ⚠
p.Leu680Pro No assertion criteria IFT80-related disorder ⚠