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Recognized gene
PKD1
Normalized c.HGVS
c.1001C>T, c.10043G>A, c.10315C>T, c.10804G>A, c.11014C>T and 45 more
Normalized p.HGVS
p.(Ala1233Thr), p.(Ala1708Thr), p.(Ala295Asp), p.(Ala388Ser), p.(Ala721Thr) and 45 more
Matching records
375
PM3-positive records
41
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 |
|---|---|---|---|---|---|---|
| PKD1 |
NM_001009944.3:c.5957C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.3876C>A; p. Phe1292Leu
context: Confirmed in trans
|
39105070
Primary Cilia Elongation in Early-Onset Polycystic Kidney Disease with 2 Hypomorphic PKD1 Alleles: A Case Report.
Kidney medicine, 2024
|
Main article | |
| PKD1 |
NM_001009944.3:c.5830G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with W1839C
context: Confirmed in trans
|
37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
|
Main article | |
| PKD1 |
NM_001009944.3:c.5848G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with S788fs *
context: Confirmed in trans
|
37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
|
Main article | |
| PKD1 |
NM_001009944.3:c.6484C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with R2266fs *
context: Confirmed in trans
|
37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
|
Main article | |
| PKD1 |
NM_001009944.3:c.6763C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with Y2753 *
context: Confirmed in trans
|
37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
|
Main article | |
| PKD1 |
NM_001009944.3:c.8300G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with V1611I
context: Confirmed in trans
|
37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
|
Main article | |
| PKD1 |
NM_001009944.3:c.8998C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with M1247V
context: Confirmed in trans
|
37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
|
Main article | |
| PKD1 |
NM_001009944.3:c.5911G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with Thr2250Met
context: Confirmed in trans
|
36706243
Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease.
Kidney360, 2023
|
Main article | |
| PKD1 |
NM_001009944.3:c.8300G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with Val1611Ile
context: Confirmed in trans
|
36706243
Hypomorphic PKD1 Alleles Impact Disease Variability in Autosomal Dominant Polycystic Kidney Disease.
Kidney360, 2023
|
Main article | |
| PKD1 |
NM_001009944.3:c.776G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.4369_4370delTC; p.Ala1458fs
context: Confirmed in trans
|
35778421
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.
NPJ genomic medicine, 2022
|
Main article | |
| PKD1 |
NM_001009944.3:c.11875G>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.9499A>T; p.(Ile3167Phe)
context: Confirmed in trans
|
34974531
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
European journal of human genetics : EJHG, 2022
|
Main article | |
| PKD1 |
NM_001009944.3:c.11675G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.11876C>T; Arg3959Val; p.(Ala3959Val)
context: Confirmed in trans
|
33168999
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.
Genetics in medicine : official journal of the American College of Medical Genetics, 2021
|
Main article | |
| PKD1 |
NM_001009944.3:c.8998C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.3739A>G; p.(Met1247Val)
context: Confirmed in trans
|
33168999
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.
Genetics in medicine : official journal of the American College of Medical Genetics, 2021
|
Main article | |
| PKD1 |
NM_001009944.3:c.11875G>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with p.P2674S; p.Pro2674Ser
context: Confirmed in trans
|
32457805
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.
Frontiers in genetics, 2020
|
Main article | |
| PKD1 |
NM_001009944.3:c.9313C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with Arg2765Cys
context: Confirmed in trans
|
30647506
Autosomal Dominant Polycystic Kidney Disease: Presence of Hypomorphic Alleles in PKD1 Gene.
Indian journal of nephrology, 2018
|
Main article | |
| PKD1 |
NM_001009944.3:c.1360C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38374194
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
NPJ genomic medicine, 2024
|
Main article | |
| PKD1 |
NM_001009944.3:c.8300G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.8291 T > C; p.(Met2764Thr)
context: Compound heterozygous candidate
|
38177409
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
European journal of human genetics : EJHG, 2024
|
Main article | |
| PKD1 |
NM_001009944.3:c.7567G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.11215C>T; p.Gln3739*
context: Compound heterozygous candidate
|
37901409
Case report: Genotype-phenotype characteristics of nine novel PKD1 mutations in eight Chinese patients with autosomal dominant polycystic kidney disease.
Frontiers in medicine, 2023
|
Supplementary material | |
| PKD1 |
NM_001009944.3:c.11675G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with A3959V
context: Compound heterozygous candidate
|
37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
|
Main article | |
| PKD1 |
NM_001009944.3:c.5911G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with T2250M
context: Confirmed in trans
|
37372410
Modifiers of Autosomal Dominant Polycystic Kidney Disease Severity: The Role of PKD1 Hypomorphic Alleles.
Genes, 2023
|
Main article | |