IFT74 — 635 ClinVar variants
All ClinVar germline IFT74 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 252 flagged for review →
33 Pathogenic · 4 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 5 Conflicting · 49 Benign · 4 Benign/Likely benign · 244 Likely benign · 279 Uncertain significance
Full IFT74 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 252
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
IFT74 p.Gln179Glu
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Gly86Ser
Pathogenic
Single submitter
spermatogenic failure 58
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
IFT74 p.Ile55Leu
Conflicting
Single submitter
Inborn genetic diseases
-
IFT74 p.Thr84Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 210
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 210
-
IFT74 p.Ala196Val
Uncertain significance
Multiple submitters
Joubert syndrome 40
- IFT74 p.Ala558Val Uncertain significance Multiple submitters
-
IFT74 p.Arg182Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Arg402Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Arg406His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Arg448Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Arg448His
Uncertain significance
Multiple submitters
Joubert syndrome 40
-
IFT74 p.Arg51Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Arg51His
Uncertain significance
Multiple submitters
Joubert syndrome 40
-
IFT74 p.Gln250Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Gln335Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Gln433Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IFT74 p.Gln476Arg Uncertain significance Multiple submitters
-
IFT74 p.Glu205Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Glu259Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Glu323Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Glu398Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Glu466Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Glu466Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Glu525Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.His69Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Ile265Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Ile483Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Ile498Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Leu244Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Leu453Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Lys521Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Lys530Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Lys548Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Met170Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Met302Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Met421Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Met456Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Pro301Leu
Uncertain significance
Multiple submitters
Joubert syndrome 40
-
IFT74 p.Pro54Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Ser260Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Ser32Pro
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 22
-
IFT74 p.Ser412Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Thr327Lys
Uncertain significance
Multiple submitters
IFT74-related disorder
-
IFT74 p.Thr329Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Thr464Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Thr479Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Thr510Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IFT74 p.Tyr526Cys Uncertain significance Multiple submitters
-
IFT74 p.Val60Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IFT74 p.Ala151Thr Uncertain significance Single submitter
- IFT74 p.Ala196Glu Uncertain significance Single submitter
- IFT74 p.Ala274Thr Uncertain significance Single submitter
- IFT74 p.Ala387Thr Uncertain significance Single submitter
- IFT74 p.Ala514Thr Uncertain significance Single submitter
- IFT74 p.Ala584Ser Uncertain significance Single submitter
- IFT74 p.Ala68Gly Uncertain significance Single submitter
- IFT74 p.Ala68Ser Uncertain significance Single submitter
- IFT74 p.Arg11Leu Uncertain significance Single submitter
- IFT74 p.Arg288Leu Uncertain significance Single submitter
- IFT74 p.Arg29Gly Uncertain significance Single submitter
- IFT74 p.Arg406Cys Uncertain significance Single submitter
-
IFT74 p.Arg547Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Arg70His Uncertain significance Single submitter
-
IFT74 p.Asn123Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Asn221Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Asn255Ile Uncertain significance Single submitter
- IFT74 p.Asn405His Uncertain significance Single submitter
- IFT74 p.Asn4Ser Uncertain significance Single submitter
-
IFT74 p.Asn578Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Asn587Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Asp152His Uncertain significance Single submitter
-
IFT74 p.Asp181Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Asp252Tyr Uncertain significance Single submitter
-
IFT74 p.Asp314Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Asp328Tyr Uncertain significance Single submitter
- IFT74 p.Asp423Val Uncertain significance Single submitter
- IFT74 p.Asp445His Uncertain significance Single submitter
- IFT74 p.Asp592Gly Uncertain significance Single submitter
- IFT74 p.Asp592Val Uncertain significance Single submitter
- IFT74 p.Cys53Arg Uncertain significance Single submitter
- IFT74 p.Gln147His Uncertain significance Single submitter
- IFT74 p.Gln200Glu Uncertain significance Single submitter
- IFT74 p.Gln227Glu Uncertain significance Single submitter
- IFT74 p.Gln254His Uncertain significance Single submitter
-
IFT74 p.Gln351Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Gln356Glu Uncertain significance Single submitter
- IFT74 p.Gln422Arg Uncertain significance Single submitter
- IFT74 p.Gln440Arg Uncertain significance Single submitter
- IFT74 p.Gln440His Uncertain significance Single submitter
- IFT74 p.Gln440Lys Uncertain significance Single submitter
- IFT74 p.Gln447His Uncertain significance Single submitter
- IFT74 p.Gln467Arg Uncertain significance Single submitter
- IFT74 p.Gln582Arg Uncertain significance Single submitter
- IFT74 p.Gln88Lys Uncertain significance Single submitter
- IFT74 p.Glu207Gln Uncertain significance Single submitter
- IFT74 p.Glu225Gly Uncertain significance Single submitter
-
IFT74 p.Glu232Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Glu264Ala Uncertain significance Single submitter
-
IFT74 p.Glu303Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Glu304Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Glu306Gln Uncertain significance Single submitter
-
IFT74 p.Glu382Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Glu382Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Glu408Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Glu482Ala Uncertain significance Single submitter
- IFT74 p.Glu482Gly Uncertain significance Single submitter
- IFT74 p.Glu504Gln Uncertain significance Single submitter
- IFT74 p.Glu535Val Uncertain significance Single submitter
-
IFT74 p.Gly148Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Gly19Ala Uncertain significance Single submitter
-
IFT74 p.Gly44Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Gly52Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.His267Asp Uncertain significance Single submitter
- IFT74 p.His367Leu Uncertain significance Single submitter
- IFT74 p.His539Tyr Uncertain significance Single submitter
- IFT74 p.Ile218Val Uncertain significance Single submitter
- IFT74 p.Ile28Val Uncertain significance Single submitter
- IFT74 p.Ile292Thr Uncertain significance Single submitter
- IFT74 p.Ile298Val Uncertain significance Single submitter
- IFT74 p.Ile389Thr Uncertain significance Single submitter
- IFT74 p.Ile393Thr Uncertain significance Single submitter
-
IFT74 p.Ile446Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Ile483Val Uncertain significance Single submitter
-
IFT74 p.Ile563Met
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Ile575Val Uncertain significance Single submitter
- IFT74 p.Leu277Met Uncertain significance Single submitter
- IFT74 p.Leu326Ser Uncertain significance Single submitter
- IFT74 p.Leu396His Uncertain significance Single submitter
-
IFT74 p.Leu425Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Leu451Val Uncertain significance Single submitter
- IFT74 p.Leu470Val Uncertain significance Single submitter
-
IFT74 p.Leu501Val
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Leu508Ser Uncertain significance Single submitter
-
IFT74 p.Leu529Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Lys144Arg Uncertain significance Single submitter
-
IFT74 p.Lys197Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Lys234Arg Uncertain significance Single submitter
- IFT74 p.Lys330Asn Uncertain significance Single submitter
-
IFT74 p.Lys332Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Lys359Glu Uncertain significance Single submitter
- IFT74 p.Lys384Glu Uncertain significance Single submitter
- IFT74 p.Lys386Arg Uncertain significance Single submitter
- IFT74 p.Lys434Asn Uncertain significance Single submitter
-
IFT74 p.Lys471Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Lys500Thr Uncertain significance Single submitter
- IFT74 p.Lys6Arg Uncertain significance Single submitter
- IFT74 p.Lys94Ile Uncertain significance Single submitter
-
IFT74 p.Met170Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Met175Thr Uncertain significance Single submitter
- IFT74 p.Met345Val Uncertain significance Single submitter
- IFT74 p.Met368Ile Uncertain significance Single submitter
- IFT74 p.Met41Ile Uncertain significance Single submitter
- IFT74 p.Met421Ile Uncertain significance Single submitter
-
IFT74 p.Met456Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 38
The independent predictors disagree with each other — read with care.
-
IFT74 p.Gly27Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Gly33Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Leu247His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Leu284Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Lys271Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Phe557Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Ser50Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Thr109Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IFT74 p.Thr543Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IFT74 p.Ala391Pro Uncertain significance Single submitter
-
IFT74 p.Ala558Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Arg23Ser Uncertain significance Single submitter
- IFT74 p.Arg288Gln Uncertain significance Single submitter
- IFT74 p.Arg385Pro Uncertain significance Single submitter
-
IFT74 p.Asn587Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Asp289His
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Asp315Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Asp344Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Glu211Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Gly27Arg Uncertain significance Single submitter
-
IFT74 p.Gly352Cys
Likely pathogenic
Single submitter
Inborn genetic diseases
-
IFT74 p.His502Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Ile265Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Ile563Thr Uncertain significance Single submitter
- IFT74 p.Leu146Arg Uncertain significance Single submitter
-
IFT74 p.Leu490Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- IFT74 p.Lys134Asn Uncertain significance Single submitter
-
IFT74 p.Lys560Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Lys576Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
IFT74 p.Met222Thr
Conflicting
Single submitter
optic atrophy
- IFT74 p.Met322Ile Uncertain significance Single submitter
- IFT74 p.Met368Val Uncertain significance Single submitter
- IFT74 p.Phe562Leu Uncertain significance Single submitter
- IFT74 p.Ser14Ala Uncertain significance Single submitter
- IFT74 p.Ser509Pro Uncertain significance Single submitter
- IFT74 p.Ser95Pro Uncertain significance Single submitter
- IFT74 p.Thr78Pro Uncertain significance Single submitter
-
IFT74 p.Gln503Pro
Uncertain significance
No assertion criteria
IFT74-related disorder
All IFT74 variants
Pathogenic 33
- c.975-2_975-1del Single submitter Joubert syndrome 40
- p.Ala274fs Single submitter
- p.Arg182Ter Single submitter
- p.Arg23fs Single submitter
- p.Arg36Ter Single submitter
- p.Arg385Ter Single submitter
- p.Arg402Ter Single submitter
- p.Asn523_Ile524insTer Single submitter
- p.Gln381Ter Single submitter
- p.Gln450Ter Single submitter
- p.Gln467Ter Single submitter
- p.Glu198Ter Single submitter
- p.Glu306fs Single submitter
- p.Glu318Ter Single submitter
- p.Glu331Ter Single submitter
- p.Glu377Ter Single submitter
- p.Gly22Ter Single submitter
- p.Gly86Ser Single submitter spermatogenic failure 58 ⚠
- p.Leu281_Tyr282insTer Single submitter
- p.Lys258fs Single submitter
- p.Lys330Ter Single submitter
- p.Lys379fs Single submitter
- p.Lys462Ter Single submitter
- p.Lys85Ter Single submitter
- p.Met170fs Single submitter
- p.Ser493Ter Single submitter
- p.Ser8Ter Single submitter
- p.Tyr153Ter Single submitter
- p.Tyr230fs Single submitter
- c.306-24A>G No assertion criteria Joubert syndrome 40
- p.Gln124fs No assertion criteria Bardet-Biedl syndrome 22
- p.Glu243Ter No assertion criteria Bardet-Biedl syndrome 22
- p.Leu31fs No assertion criteria Joubert syndrome 40
Pathogenic/Likely pathogenic 4
- c.1685-1G>T Multiple submitters IFT74-related disorder
- p.Gln179Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu120Ter Multiple submitters Bardet-Biedl syndrome 22
- p.Glu285Ter Multiple submitters Joubert syndrome 40
Likely pathogenic 17
- c.1207-1G>A Single submitter
- c.121-1G>T Single submitter
- c.256+1G>C Single submitter
- c.305+1G>A Single submitter
- c.306-2A>G Single submitter
- c.466-2A>G Single submitter
- c.525+2T>G Single submitter
- c.587+1G>C Single submitter
- c.588-2A>G Single submitter
- c.789+2T>G Single submitter
- c.974+1G>A Single submitter Bardet-Biedl syndrome 22
- c.974+1G>C Single submitter
- c.-19-2025_120+884delinsTTA Single submitter Jeune syndrome
- p.Arg29Ter Single submitter Joubert syndrome 40
- p.Gly352Cys Single submitter Inborn genetic diseases ⚠
- p.Arg288Ter No assertion criteria IFT74-related disorder
- p.Glu304fs No assertion criteria Bardet-Biedl syndrome 22
Conflicting classifications of pathogenicity 5
- c.1623+7A>C Single submitter
- p.Gln342Ter Single submitter IFT74-related disorder
- p.Ile55Leu Single submitter Inborn genetic diseases ⚠
- p.Met222Thr Single submitter optic atrophy ⚠
- p.Thr84Met Single submitter Inborn genetic diseases ⚠
Benign 49
- c.1055-153G>A Multiple submitters
- c.1055-176A>T Multiple submitters
- c.1109-26T>C Multiple submitters
- c.1109-31A>T Multiple submitters
- c.120+85C>A Multiple submitters
- c.1206+91T>C Multiple submitters
- c.1333+39A>T Multiple submitters
- c.257-156A>G Multiple submitters
- c.257-3T>C Multiple submitters
- c.466-96A>G Multiple submitters
- c.525+57G>A Multiple submitters
- c.726+149C>T Multiple submitters
- c.726+188C>A Multiple submitters
- c.726+83C>T Multiple submitters
- c.975-76A>G Multiple submitters
- c.-19-111C>T Multiple submitters
- p.Ala514= Multiple submitters
- p.Glu120= Multiple submitters
- p.Glu125= Multiple submitters
- p.Ile55Met Multiple submitters Bardet-Biedl syndrome 22
- p.Lys85Arg Multiple submitters Bardet-Biedl syndrome 22
- p.Phe224Leu Multiple submitters
- p.Thr110Ala Multiple submitters
- p.Thr597Ile Multiple submitters Bardet-Biedl syndrome 22
- p.Val579Met Multiple submitters
- c.1054+3A>T Single submitter
- c.1109-20_1109-19del Single submitter
- c.1109-266G>A Single submitter
- c.120+320C>A Single submitter
- c.121-324A>G Single submitter
- c.1333+259T>A Single submitter
- c.1334-41A>T Single submitter
- c.1623+8dup Single submitter
- c.1684+14del Single submitter
- c.256+289T>C Single submitter
- c.257-3del Single submitter
- c.305+20del Single submitter
- c.305+262C>T Single submitter
- c.405-3C>T Single submitter
- c.465+186A>G Single submitter
- c.587+22del Single submitter
- c.727-243del Single submitter
- c.727-244_727-243del Single submitter
- c.727-9del Single submitter
- c.790-255C>G Single submitter
- c.934-270C>A Single submitter
- p.Glu243Gln Single submitter
- p.Ser509del Single submitter microcephaly
- c.1054+7371A>G No assertion criteria IFT74-related disorder
Benign/Likely benign 4
- c.727-9dup Multiple submitters
- c.790-18C>G Multiple submitters
- p.Ile190= Multiple submitters
- p.Leu101= Multiple submitters
Likely benign 244
- c.121-19A>C Multiple submitters
- c.588-16G>A Multiple submitters
- c.974+16C>T Multiple submitters
- p.Ala274= Multiple submitters
- p.Asn578= Multiple submitters
- p.Glu306= Multiple submitters
- p.Glu360= Multiple submitters
- p.Ile590= Multiple submitters
- p.Val72= Multiple submitters
- c.1055-10T>A Single submitter
- c.1055-11A>G Single submitter
- c.1055-18A>G Single submitter
- c.1055-20G>T Single submitter
- c.1055-4A>G Single submitter
- c.1055-9C>T Single submitter
- c.1108+16G>A Single submitter
- c.1109-5G>A Single submitter
- c.1109-8A>C Single submitter
- c.1109-8A>T Single submitter
- c.120+10A>C Single submitter
- c.120+13C>G Single submitter
- c.120+13C>T Single submitter
- c.120+15A>T Single submitter
- c.120+16A>G Single submitter
- c.120+20A>G Single submitter
- c.1206+10A>G Single submitter
- c.1206+11T>C Single submitter
- c.1206+18G>A Single submitter
- c.1206+19T>C Single submitter
- c.1206+19T>G Single submitter
- c.1206+8C>T Single submitter
- c.1207-14C>A Single submitter
- c.1207-14C>G Single submitter
- c.121-11T>C Single submitter
- c.121-15T>A Single submitter
- c.121-17T>C Single submitter
- c.121-18A>G Single submitter
- c.1333+15T>C Single submitter
- c.1333+17G>T Single submitter
- c.1333+18A>C Single submitter
- c.1333+7A>C Single submitter
- c.1334-10T>A Single submitter
- c.1334-15A>C Single submitter
- c.1334-8T>C Single submitter
- c.1334-9_1334-5del Single submitter
- c.1497+12C>T Single submitter
- c.1497+14A>C Single submitter
- c.1497+15A>G Single submitter
- c.1497+16G>T Single submitter
- c.1497+3A>G Single submitter
- c.1498-16A>G Single submitter
- c.1498-17T>C Single submitter
- c.1498-18C>G Single submitter
- c.1498-5T>C Single submitter
- c.1623+15A>C Single submitter
- c.1624-10A>C Single submitter
- c.1624-18T>C Single submitter
- c.1684+10A>G Single submitter
- c.1684+15G>C Single submitter
- c.1684+16C>T Single submitter
- c.1684+19A>C Single submitter
- c.1685-20C>T Single submitter
- c.1685-23_1685-12del Single submitter
- c.256+17A>G Single submitter
- c.256+20T>A Single submitter
- c.256+9T>G Single submitter
- c.257-8T>C Single submitter
- c.305+11C>T Single submitter
- c.305+12A>G Single submitter
- c.305+14_305+15del Single submitter
- c.306-15T>C Single submitter
- c.306-16dup Single submitter
- c.306-5A>G Single submitter
- c.404+10A>G Single submitter
- c.404+13T>A Single submitter
- c.465+10C>T Single submitter
- c.465+11T>G Single submitter
- c.465+12T>C Single submitter
- c.465+13_465+17del Single submitter
- c.465+18A>G Single submitter
- c.466-15T>C Single submitter
- c.466-16G>C Single submitter
- c.466-17T>C Single submitter
- c.466-5T>C Single submitter
- c.525+13A>T Single submitter
- c.525+14_525+15del Single submitter
- c.526-10C>T Single submitter
- c.526-12_526-8del Single submitter
- c.526-18T>C Single submitter
- c.587+15T>C Single submitter
- c.587+17T>C Single submitter
- c.587+8T>C Single submitter
- c.588-16G>C Single submitter
- c.588-16G>T Single submitter
- c.588-17C>T Single submitter
- c.726+13A>G Single submitter
- c.726+9A>G Single submitter
- c.727-12T>C Single submitter
- c.727-5C>T Single submitter
- c.727-9T>A Single submitter
- c.790-12A>G Single submitter
- c.790-13dup Single submitter
- c.790-20C>A Single submitter
- c.790-20C>G Single submitter
- c.933+14A>T Single submitter
- c.933+16A>T Single submitter
- c.934-12A>G Single submitter
- c.934-18C>T Single submitter
- c.934-4G>A Single submitter
- c.934-8C>G Single submitter
- c.934-9C>G Single submitter
- c.934-9C>T Single submitter
- c.974+14T>C Single submitter
- c.974+16C>G Single submitter
- c.974+17T>C Single submitter
- c.974+7A>G Single submitter
- c.974+9C>G Single submitter
- c.975-8T>C Single submitter
- p.Ala178= Single submitter
- p.Ala214= Single submitter
- p.Ala293= Single submitter
- p.Ala391= Single submitter
- p.Ala528= Single submitter
- p.Ala558= Single submitter
- p.Ala68= Single submitter
- p.Ala9= Single submitter
- p.Arg194= Single submitter
- p.Arg385= Single submitter
- p.Arg505= Single submitter
- p.Asn154= Single submitter
- p.Asn163= Single submitter
- p.Asn405= Single submitter
- p.Asn426Asp Single submitter
- p.Asp152= Single submitter
- p.Asp181= Single submitter
- p.Asp216= Single submitter
- p.Asp314= Single submitter
- p.Asp344= Single submitter
- p.Asp480= Single submitter
- p.Gln124= Single submitter
- p.Gln149= Single submitter
- p.Gln269= Single submitter
- p.Gln325= Single submitter Inborn genetic diseases
- p.Gln342= Single submitter
- p.Gln409= Single submitter
- p.Gln436= Single submitter
- p.Gln447= Single submitter
- p.Gln532= Single submitter
- p.Gln534= Single submitter
- p.Gln550= Single submitter
- p.Gln582= Single submitter
- p.Gln64= Single submitter
- p.Gln74= Single submitter
- p.Glu137= Single submitter
- p.Glu145= Single submitter
- p.Glu198= Single submitter
- p.Glu304= Single submitter
- p.Glu417= Single submitter
- p.Glu527= Single submitter
- p.Glu553= Single submitter
- p.Glu569= Single submitter
- p.Gly118= Single submitter
- p.Gly27= Single submitter
- p.Gly299= Single submitter
- p.Gly44= Single submitter
- p.Gly49= Single submitter
- p.Gly56= Single submitter
- p.Gly58Asp Single submitter
- p.Gly599= Single submitter
- p.His551Tyr Single submitter
- p.Ile337= Single submitter
- p.Ile498= Single submitter
- p.Leu100= Single submitter
- p.Leu160= Single submitter
- p.Leu251= Single submitter
- p.Leu261= Single submitter
- p.Leu277= Single submitter
- p.Leu326= Single submitter
- p.Leu449= Single submitter
- p.Leu451= Single submitter
- p.Leu453= Single submitter
- p.Leu508= Single submitter
- p.Leu529= Single submitter
- p.Leu533= Single submitter
- p.Leu594= Single submitter
- p.Leu61= Single submitter
- p.Leu98= Single submitter
- p.Lys386= Single submitter
- p.Lys473= Single submitter
- p.Lys491= Single submitter
- p.Lys548= Single submitter
- p.Lys560= Single submitter
- p.Lys581= Single submitter
- p.Phe562= Single submitter
- p.Pro24= Single submitter
- p.Pro30= Single submitter
- p.Pro42= Single submitter
- p.Pro488Leu Single submitter
- p.Ser131= Single submitter
- p.Ser14= Single submitter
- p.Ser286= Single submitter
- p.Ser429= Single submitter
- p.Ser469= Single submitter
- p.Ser598= Single submitter
- p.Ser7= Single submitter
- p.Thr110= Single submitter
- p.Thr370= Single submitter
- p.Thr374= Single submitter
- p.Thr414= Single submitter
- p.Thr510= Single submitter
- p.Thr531= Single submitter
- p.Thr538= Single submitter
- p.Thr589= Single submitter
- p.Thr597= Single submitter
- p.Thr78= Single submitter
- p.Thr84= Single submitter
- p.Tyr132= Single submitter
- p.Tyr153= Single submitter
- p.Tyr572= Single submitter
- p.Val128= Single submitter
- p.Val157= Single submitter
- p.Val189= Single submitter
- p.Val204= Single submitter
- p.Val432= Single submitter
- p.Val67= Single submitter
- c.1054+7413C>T No assertion criteria IFT74-related disorder
- c.1054+7415G>C No assertion criteria IFT74-related disorder
- c.1206+9C>T No assertion criteria IFT74-related disorder
- c.121-8T>A No assertion criteria IFT74-related disorder
- c.1623+7A>G No assertion criteria IFT74-related disorder
- c.1685-612C>T No assertion criteria IFT74-related disorder
- c.1685-617C>G No assertion criteria IFT74-related disorder
- c.404+4A>T No assertion criteria IFT74-related disorder
- c.466-7T>C No assertion criteria IFT74-related disorder
- c.466-9T>C No assertion criteria IFT74-related disorder
- c.727-10_727-9del No assertion criteria IFT74-related disorder
- c.727-10_727-9dup No assertion criteria IFT74-related disorder
- c.727-9T>C No assertion criteria IFT74-related disorder
- p.Ala584= No assertion criteria IFT74-related disorder
- p.Glu243= No assertion criteria IFT74-related disorder
- p.Glu466= No assertion criteria IFT74-related disorder
- p.Ile105= No assertion criteria IFT74-related disorder
- p.Thr329= No assertion criteria IFT74-related disorder
- p.Thr565= No assertion criteria IFT74-related disorder
Uncertain significance 279
- p.Ala196Val Multiple submitters Joubert syndrome 40 ⚠
- p.Ala558Val Multiple submitters ⚠
- p.Arg182Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg402Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg406His Multiple submitters Inborn genetic diseases ⚠
- p.Arg448Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg448His Multiple submitters Joubert syndrome 40 ⚠
- p.Arg51Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg51His Multiple submitters Joubert syndrome 40 ⚠
- p.Gln250Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln335Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gln433Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln476Arg Multiple submitters ⚠
- p.Glu198Gly Multiple submitters Inborn genetic diseases
- p.Glu205Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu259Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu323Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu398Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu466Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu466Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu525Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly27Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly33Arg Multiple submitters Inborn genetic diseases ⚠
- p.His69Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile265Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile483Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile498Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu139Ser Multiple submitters Inborn genetic diseases
- p.Leu244Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu247His Multiple submitters Inborn genetic diseases ⚠
- p.Leu284Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu453Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys271Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys521Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys530Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys548Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met170Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met302Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met421Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met456Arg Multiple submitters Inborn genetic diseases ⚠
- p.Phe557Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro301Leu Multiple submitters Joubert syndrome 40 ⚠
- p.Pro54Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser260Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser32Pro Multiple submitters Bardet-Biedl syndrome 22 ⚠
- p.Ser412Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser50Phe Multiple submitters Inborn genetic diseases ⚠
- p.Thr109Lys Multiple submitters Inborn genetic diseases ⚠
- p.Thr327Lys Multiple submitters IFT74-related disorder ⚠
- p.Thr329Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr464Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr479Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr510Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr543Pro Multiple submitters Inborn genetic diseases ⚠
- p.Tyr526Cys Multiple submitters ⚠
- p.Val60Phe Multiple submitters Inborn genetic diseases ⚠
- c.1109-8A>G Single submitter
- c.120+2dup Single submitter short-rib thoracic dysplasia 6 with or without polydactyly
- c.1206+4A>G Single submitter
- c.1207-3C>T Single submitter
- c.1623+3A>G Single submitter
- c.1624-1G>A Single submitter Bardet-Biedl syndrome 22
- c.1684+5C>G Single submitter
- c.256+6T>C Single submitter
- c.306-3T>C Single submitter
- c.404+3_404+6del Single submitter
- c.587+2dup Single submitter
- c.726+4A>C Single submitter
- c.727-4T>C Single submitter
- c.789+3A>G Single submitter
- c.933+6C>T Single submitter
- c.974+4A>G Single submitter retinal disorder
- c.-20+1G>T Single submitter
- p.Ala151Thr Single submitter ⚠
- p.Ala196Glu Single submitter ⚠
- p.Ala274Thr Single submitter ⚠
- p.Ala387Thr Single submitter ⚠
- p.Ala391Pro Single submitter ⚠
- p.Ala514Thr Single submitter ⚠
- p.Ala558Pro Single submitter Inborn genetic diseases ⚠
- p.Ala584Ser Single submitter ⚠
- p.Ala68Gly Single submitter ⚠
- p.Ala68Ser Single submitter ⚠
- p.Arg102= Single submitter
- p.Arg11Leu Single submitter ⚠
- p.Arg135= Single submitter
- p.Arg23Ser Single submitter ⚠
- p.Arg288Gln Single submitter ⚠
- p.Arg288Leu Single submitter ⚠
- p.Arg29Gly Single submitter ⚠
- p.Arg385Pro Single submitter ⚠
- p.Arg406Cys Single submitter ⚠
- p.Arg547Ile Single submitter Inborn genetic diseases ⚠
- p.Arg70His Single submitter ⚠
- p.Asn123Ser Single submitter Inborn genetic diseases ⚠
- p.Asn221Thr Single submitter Inborn genetic diseases ⚠
- p.Asn255Ile Single submitter ⚠
- p.Asn405His Single submitter ⚠
- p.Asn4Ser Single submitter ⚠
- p.Asn578Lys Single submitter Inborn genetic diseases ⚠
- p.Asn587Lys Single submitter Inborn genetic diseases ⚠
- p.Asn587Ser Single submitter Inborn genetic diseases ⚠
- p.Asp152His Single submitter ⚠
- p.Asp181Gly Single submitter Inborn genetic diseases ⚠
- p.Asp252Tyr Single submitter ⚠
- p.Asp289His Single submitter Inborn genetic diseases ⚠
- p.Asp314Asn Single submitter Inborn genetic diseases ⚠
- p.Asp315Asn Single submitter Inborn genetic diseases ⚠
- p.Asp328Tyr Single submitter ⚠
- p.Asp344Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp423Val Single submitter ⚠
- p.Asp445His Single submitter ⚠
- p.Asp592Gly Single submitter ⚠
- p.Asp592Val Single submitter ⚠
- p.Cys53Arg Single submitter ⚠
- p.Gln147His Single submitter ⚠
- p.Gln200Glu Single submitter ⚠
- p.Gln227Glu Single submitter ⚠
- p.Gln254His Single submitter ⚠
- p.Gln351Lys Single submitter Inborn genetic diseases ⚠
- p.Gln356Glu Single submitter ⚠
- p.Gln422Arg Single submitter ⚠
- p.Gln440Arg Single submitter ⚠
- p.Gln440His Single submitter ⚠
- p.Gln440Lys Single submitter ⚠
- p.Gln447His Single submitter ⚠
- p.Gln467Arg Single submitter ⚠
- p.Gln582Arg Single submitter ⚠
- p.Gln88Lys Single submitter ⚠
- p.Glu142Gly Single submitter
- p.Glu207Gln Single submitter ⚠
- p.Glu211Gly Single submitter Inborn genetic diseases ⚠
- p.Glu225Gly Single submitter ⚠
- p.Glu232Lys Single submitter Inborn genetic diseases ⚠
- p.Glu264Ala Single submitter ⚠
- p.Glu303Gln Single submitter Inborn genetic diseases ⚠
- p.Glu304Asp Single submitter Inborn genetic diseases ⚠
- p.Glu306Gln Single submitter ⚠
- p.Glu382Asp Single submitter Inborn genetic diseases ⚠
- p.Glu382Lys Single submitter Inborn genetic diseases ⚠
- p.Glu408Gly Single submitter Inborn genetic diseases ⚠
- p.Glu482Ala Single submitter ⚠
- p.Glu482Gly Single submitter ⚠
- p.Glu504Gln Single submitter ⚠
- p.Glu535Val Single submitter ⚠
- p.Glu561= Single submitter
- p.Gly148Glu Single submitter Inborn genetic diseases ⚠
- p.Gly19Ala Single submitter ⚠
- p.Gly27Arg Single submitter ⚠
- p.Gly44Val Single submitter Inborn genetic diseases ⚠
- p.Gly52Ser Single submitter Inborn genetic diseases ⚠
- p.Gly86Cys Single submitter
- p.His267Asp Single submitter ⚠
- p.His367Leu Single submitter ⚠
- p.His399Pro Single submitter
- p.His502Pro Single submitter Inborn genetic diseases ⚠
- p.His539Tyr Single submitter ⚠
- p.His5fs Single submitter
- p.Ile218Val Single submitter ⚠
- p.Ile265Arg Single submitter Inborn genetic diseases ⚠
- p.Ile28Val Single submitter ⚠
- p.Ile292Thr Single submitter ⚠
- p.Ile298Val Single submitter ⚠
- p.Ile389Thr Single submitter ⚠
- p.Ile393Thr Single submitter ⚠
- p.Ile446Thr Single submitter Inborn genetic diseases ⚠
- p.Ile483Val Single submitter ⚠
- p.Ile563Met Single submitter Inborn genetic diseases ⚠
- p.Ile563Thr Single submitter ⚠
- p.Ile575Val Single submitter ⚠
- p.Leu146Arg Single submitter ⚠
- p.Leu277Met Single submitter ⚠
- p.Leu326Ser Single submitter ⚠
- p.Leu396His Single submitter ⚠
- p.Leu425Phe Single submitter Inborn genetic diseases ⚠
- p.Leu451Val Single submitter ⚠
- p.Leu470Val Single submitter ⚠
- p.Leu490Phe Single submitter Inborn genetic diseases ⚠
- p.Leu501Val Single submitter Inborn genetic diseases ⚠
- p.Leu508Ser Single submitter ⚠
- p.Leu529Pro Single submitter Inborn genetic diseases ⚠
- p.Leu545= Single submitter
- p.Lys134Asn Single submitter ⚠
- p.Lys144Arg Single submitter ⚠
- p.Lys197Thr Single submitter Inborn genetic diseases ⚠
- p.Lys234Arg Single submitter ⚠
- p.Lys330Asn Single submitter ⚠
- p.Lys332Glu Single submitter Inborn genetic diseases ⚠
- p.Lys359Glu Single submitter ⚠
- p.Lys384Glu Single submitter ⚠
- p.Lys386Arg Single submitter ⚠
- p.Lys434Asn Single submitter ⚠
- p.Lys471Thr Single submitter Inborn genetic diseases ⚠
- p.Lys500Thr Single submitter ⚠
- p.Lys560Glu Single submitter Inborn genetic diseases ⚠
- p.Lys576Asn Single submitter Inborn genetic diseases ⚠
- p.Lys6Arg Single submitter ⚠
- p.Lys94Ile Single submitter ⚠
- p.Met170Ile Single submitter Inborn genetic diseases ⚠
- p.Met175Thr Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met322Ile Single submitter ⚠
- p.Met345Val Single submitter ⚠
- p.Met368Ile Single submitter ⚠
- p.Met368Val Single submitter ⚠
- p.Met41Ile Single submitter ⚠
- p.Met421Ile Single submitter ⚠
- p.Met456Ile Single submitter Inborn genetic diseases ⚠
- p.Met506Ile Single submitter ⚠
- p.Met559Val Single submitter ⚠
- p.Phe224Val Single submitter ⚠
- p.Phe336Leu Single submitter ⚠
- p.Phe562Leu Single submitter ⚠
- p.Pro42Thr Single submitter Inborn genetic diseases ⚠
- p.Pro54Leu Single submitter Inborn genetic diseases ⚠
- p.Pro87Ser Single submitter ⚠
- p.Ser14Ala Single submitter ⚠
- p.Ser14Thr Single submitter ⚠
- p.Ser26Ala Single submitter ⚠
- p.Ser26Pro Single submitter Inborn genetic diseases ⚠
- p.Ser3Gly Single submitter Inborn genetic diseases ⚠
- p.Ser401Thr Single submitter ⚠
- p.Ser437Thr Single submitter Inborn genetic diseases ⚠
- p.Ser469Phe Single submitter Inborn genetic diseases ⚠
- p.Ser509Pro Single submitter ⚠
- p.Ser567Ile Single submitter ⚠
- p.Ser95Pro Single submitter ⚠
- p.Ter601Arg Single submitter
- p.Thr215Ala Single submitter ⚠
- p.Thr21Ile Single submitter ⚠
- p.Thr246Ile Single submitter ⚠
- p.Thr329Arg Single submitter ⚠
- p.Thr378Arg Single submitter ⚠
- p.Thr478Ala Single submitter ⚠
- p.Thr57Ile Single submitter ⚠
- p.Thr73Lys Single submitter ⚠
- p.Thr78Pro Single submitter ⚠
- p.Thr82Ser Single submitter Inborn genetic diseases ⚠
- p.Thr84Arg Single submitter ⚠
- p.Tyr484Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr484His Single submitter ⚠
- p.Tyr526His Single submitter ⚠
- p.Tyr572Asp Single submitter ⚠
- p.Val18Ala Single submitter ⚠
- p.Val591Met Single submitter ⚠
- c.1054+7363T>C No assertion criteria IFT74-related disorder
- c.1054+7400A>C No assertion criteria IFT74-related disorder
- c.1054+7405G>A No assertion criteria IFT74-related disorder
- p.Ala274Val No assertion criteria IFT74-related disorder ⚠
- p.Ala2Val No assertion criteria IFT74-related disorder ⚠
- p.Ala593Val No assertion criteria IFT74-related disorder ⚠
- p.Arg385Gly No assertion criteria IFT74-related disorder ⚠
- p.Asn113Lys No assertion criteria IFT74-related disorder ⚠
- p.Asn226Lys No assertion criteria IFT74-related disorder ⚠
- p.Gln227Lys No assertion criteria IFT74-related disorder ⚠
- p.Gln317Arg No assertion criteria IFT74-related disorder ⚠
- p.Gln325His No assertion criteria IFT74-related disorder ⚠
- p.Gln503Pro No assertion criteria IFT74-related disorder ⚠
- p.Gln522Glu No assertion criteria IFT74-related disorder ⚠
- p.Gln64His No assertion criteria IFT74-related disorder ⚠
- p.Glu183Asp No assertion criteria IFT74-related disorder ⚠
- p.Glu294Lys No assertion criteria IFT74-related disorder ⚠
- p.Glu348Asp No assertion criteria IFT74-related disorder ⚠
- p.Glu408Asp No assertion criteria IFT74-related disorder ⚠
- p.Glu561Gly No assertion criteria IFT74-related disorder
- p.His278Arg No assertion criteria IFT74-related disorder ⚠
- p.Leu277Pro No assertion criteria IFT74-related disorder ⚠
- p.Lys199Asn No assertion criteria IFT74-related disorder ⚠
- p.Lys462Arg No assertion criteria IFT74-related disorder ⚠
- p.Lys499Asn No assertion criteria IFT74-related disorder ⚠
- p.Met256Ile No assertion criteria IFT74-related disorder ⚠
- p.Met302Val No assertion criteria IFT74-related disorder ⚠
- p.Met354Ile No assertion criteria IFT74-related disorder ⚠
- p.Met41Val No assertion criteria IFT74-related disorder ⚠
- p.Met420Lys No assertion criteria IFT74-related disorder ⚠
- p.Pro12Ala No assertion criteria IFT74-related disorder ⚠
- p.Ser596Ile No assertion criteria IFT74-related disorder ⚠
- p.Thr236Ile No assertion criteria IFT74-related disorder ⚠
- p.Tyr282Cys No assertion criteria ⚠