GLEAM-DB

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Input query
Recognized gene
IFT140
Normalized c.HGVS
c.1021G>A, c.1242C>G, c.1255G>A, c.127G>A, c.1301C>T and 45 more
Normalized p.HGVS
p.(=), p.(Ala341Thr), p.(Ala419Thr), p.(Ala457Thr), p.(Ala473Val) and 42 more
Matching records
168
PM3-positive records
12

Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.

Download current query results as TSV
Gene Variant Evidence PM3 context Publication Reviewed source Actions
IFT140 NM_014714.4:c.1021G>A Phase-unconfirmed biallelic evidence
High confidence
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
 39880085
Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery.
Molecular & cellular proteomics : MCP, 2025
 Main article
Open
IFT140 NM_014714.4:c.3130C>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 37805537
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Genome medicine, 2023
 Main article
Open
IFT140 NM_014714.4:c.1487C>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.1250_1271dup; p.S425Gfs*66; duplication
context: Compound heterozygous candidate
 36833373
Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases.
Genes, 2023
 Main article
Open
IFT140 NM_014714.4:c.3712G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.2101G > A; p.Glu701Lys
context: Compound heterozygous candidate
 36227438
Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.
Pediatric nephrology (Berlin, Germany), 2023
 Main article
Open
IFT140 NM_014714.4:c.2079G>C Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with p.(Lys390Arg)
context: Compound heterozygous candidate
 34556108
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
BMC medical genomics, 2021
 Main article
Open
IFT140 NM_014714.4:c.142G>A Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 33576794
Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.
Investigative ophthalmology & visual science, 2021
 Main article
Open
IFT140 NM_014714.4:c.1301C>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.3130C>T; p.Arg1044Cys
context: Compound heterozygous candidate
 32037395
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
 Supplementary material
Open
IFT140 NM_014714.4:c.2138G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.2577+2T>G
context: Compound heterozygous candidate
 32037395
Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
 Supplementary material
Open
IFT140 NM_014714.4:c.1021G>A Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 31397098
Novel IFT140 variants cause spermatogenic dysfunction in humans.
Molecular genetics & genomic medicine, 2019
 Main article
Open
IFT140 NM_014714.4:c.3245A>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.410G>A; p.(Arg137Gln)
context: Compound heterozygous candidate
 29758562
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Genetics in medicine : official journal of the American College of Medical Genetics, 2018
 Main article
Open
IFT140 NM_014714.4:c.2303G>A Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with 16:1630771:G:A; R505X; p.Arg505*
context: Compound heterozygous candidate
 28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
 Supplementary material
Open
IFT140 NM_014714.4:c.2921C>T Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with c.G1252C; p.A418P
context: Compound heterozygous candidate
 26216056
Mutations in human IFT140 cause non-syndromic retinal degeneration.
Human genetics, 2015
 Main article
Open
IFT140 NM_014714.4:c.188G>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 40661289
Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts.
medRxiv : the preprint server for health sciences, 2025
 Main article
Open
IFT140 NM_014714.4:c.3602G>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 39622812
Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing.
Human genome variation, 2024
 Main article
Open
IFT140 NM_014714.4:c.1255G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 39291187
Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.
Kidney international reports, 2024
 Main article and supplement
Open
IFT140 NM_014714.4:c.1726C>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 39291187
Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.
Kidney international reports, 2024
 Main article
Open
IFT140 NM_014714.4:c.359C>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 39291187
Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.
Kidney international reports, 2024
 Main article and supplement
Open
IFT140 NM_014714.4:c.3602G>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 39291187
Importance of IFT140 in Patients with Polycystic Kidney Disease Without a Family History.
Kidney international reports, 2024
 Main article and supplement
Open
IFT140 NM_014714.4:c.2944C>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 38765603
Genetic Diagnosis of Adult Hemodialysis Patients With Unknown Etiology.
Kidney international reports, 2024
 Main article and supplement
Open
IFT140 NM_014714.4:c.2743G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36991000
Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.
Nature communications, 2023
 Main article and supplement
Open