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Recognized gene
PKHD1
Normalized c.HGVS
c.*2552_*2553dup, c.*2553dup, c.10036T>C, c.10651G>A, c.10666C>T and 45 more
Normalized p.HGVS
p.(=), p.(Ala1297Val), p.(Ala134Val), p.(Ala17Ser), p.(Ala17Val) and 43 more
Matching records
300
PM3-positive records
18
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.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| PKHD1 |
NM_138694.4:c.55C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1981 A > C; p.T661P
context: Confirmed in trans
|
38918687
A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?
BMC nephrology, 2024
|
Main article | |
| PKHD1 |
NM_138694.4:c.2876C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.5772C>A; F1924L; p.Phe1924Leu
context: Confirmed in trans
|
31638247
Novel compound heterozygous PKHD1 mutations cause autosomal recessive polycystic kidney disease in a Han Chinese family.
Molecular medicine reports, 2019
|
Main article | |
| PKHD1 |
NM_138694.4:c.874A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.6317T>G; c.9788T>C; p.Leu2106Arg; +1 more
context: Confirmed in trans
|
19914852
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Molecular genetics and metabolism, 2010
|
Main article | |
| PKHD1 |
NM_138694.4:c.4105C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2710A>G; p.Thr904Ala
context: Compound heterozygous candidate
|
41751613
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.
Genes, 2026
|
Main article | |
| PKHD1 |
NM_138694.4:c.934C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.107C>T; p.Thr36Met
context: Compound heterozygous candidate
|
41751613
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.
Genes, 2026
|
Main article | |
| PKHD1 |
NM_138694.4:c.1463G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Phe372Leu; p.Ser1156Leu
context: Compound heterozygous candidate
|
39473742
Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.
Turkish journal of medical sciences, 2024
|
Main article | |
| PKHD1 |
NM_138694.4:c.5410C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with Gly448Arg
context: Compound heterozygous candidate
|
39473742
Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.
Turkish journal of medical sciences, 2024
|
Main article | |
| PKHD1 |
NM_138694.4:c.9868G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Gly2967Trp; p.Ser1156Leu; p.Val2559Leu
context: Compound heterozygous candidate
|
39473742
Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.
Turkish journal of medical sciences, 2024
|
Main article | |
| PKHD1 |
NM_138694.4:c.11210A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3383 T > C; p.Ile1128Thr
context: Compound heterozygous candidate
|
37801220
Atypical cystic hepatorenal disease in a 40-year-old female: What is the diagnosis? A nephrology zebra.
Journal of nephrology, 2023
|
Main article | |
| PKHD1 |
NM_138694.4:c.5585C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.10036T>C; p.Cys3346Arg
context: Compound heterozygous candidate
|
37372416
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Genes, 2023
|
Main article | |
| PKHD1 |
NM_138694.4:c.2141-3T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2507T>C; Leu1167Pro; Val836Ala
context: Compound heterozygous candidate
|
36835961
A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease.
Journal of clinical medicine, 2023
|
Supplementary material | |
| PKHD1 |
NM_138694.4:c.2876C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.10756_10759delAACT; p.N3586Sfs*22
context: Compound heterozygous candidate
|
36685964
Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.
Frontiers in genetics, 2023
|
Main article | |
| PKHD1 |
NM_138694.4:c.55C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1981A>C; p.T661P
context: Compound heterozygous candidate
|
36685964
Diagnostic application of exome sequencing in Chinese children with suspected inherited kidney diseases.
Frontiers in genetics, 2023
|
Main article | |
| PKHD1 |
NM_138694.4:c.2141-3T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
33644218
Congenital hepatic fibrosis in a young boy with congenital hypothyroidism: A case report.
World journal of clinical cases, 2021
|
Main article | |
| PKHD1 |
NM_138694.4:c.4403T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.8870T>C; Ile2957Thr
context: Confirmed in trans
|
32574212
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.
PloS one, 2020
|
Main article | |
| PKHD1 |
NM_138694.4:c.5231A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.9455delA; p.N3152Tfs*10
context: Compound heterozygous candidate
|
30076350
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Scientific reports, 2018
|
Supplementary material | |
| PKHD1 |
NM_138694.4:c.5585C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.1486C>T; p.Arg496X
context: Confirmed in trans
|
22415584
Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.
Pediatric nephrology (Berlin, Germany), 2012
|
Main article | |
| PKHD1 |
NM_138694.4:c.5585C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.11525G>T; c.7544delC; p.Ala2515fs; +1 more
context: Compound heterozygous candidate
|
19914852
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Molecular genetics and metabolism, 2010
|
Main article | |
| PKHD1 |
NM_138694.4:c.10036T>C
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37372416
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Genes, 2023
|
Main article and supplement | |
| PKHD1 |
NM_138694.4:c.10036T>C
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
25646624
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
PloS one, 2015
|
Main article | |