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Recognized gene
POLR3A
Normalized c.HGVS
c.1366G>A, c.1595C>T, c.1610C>T, c.1682G>A, c.1744C>T and 35 more
Normalized p.HGVS
p.(=), p.(Ala1263Ser), p.(Ala1263Thr), p.(Ala161Thr), p.(Arg1159His) and 35 more
Matching records
69
PM3-positive records
11
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 |
|---|---|---|---|---|---|---|
| POLR3A |
NM_007055.4:c.3677T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1909+22G>A; c.3337-11T>C
context: Confirmed in trans
|
38397171
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation.
Genes, 2024
|
Main article | |
| POLR3A |
NM_007055.4:c.3718G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.3342C > T; p.Ser1114=
context: Confirmed in trans
|
36385762
A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing.
Frontiers in molecular neuroscience, 2022
|
Main article | |
| POLR3A |
NM_007055.4:c.1682G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1909+22G>A
context: Confirmed in trans
|
30847471
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis.
Brain : a journal of neurology, 2019
|
Main article | |
| POLR3A |
NM_007055.4:c.200G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2722G>T; p.D908Y
context: Confirmed in trans
|
29451896
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.
PloS one, 2018
|
Main article | |
| POLR3A |
NM_007055.4:c.1802T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.4072G > A; c.4072G>A; G1358R; +2 more
context: Confirmed in trans
|
41634725
Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.
Cell communication and signaling : CCS, 2026
|
Main article | |
| POLR3A |
NM_007055.4:c.3336G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37965164
A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.
Frontiers in neurology, 2023
|
Main article | |
| POLR3A |
NM_007055.4:c.364AAG[1]
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with NM_007055.3:(c.2554A > G); c.2554A > G; p.Met852Val
context: Compound heterozygous candidate
|
37965164
A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.
Frontiers in neurology, 2023
|
Main article | |
| POLR3A |
NM_007055.4:c.3718G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1795C > A
context: Compound heterozygous candidate
|
37965164
A Chinese patient with POLR3A-related leukodystrophy: a case report and literature review.
Frontiers in neurology, 2023
|
Main article | |
| POLR3A |
NM_007055.4:c.2434G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1006G>A; c.72+294C>A; deletion of exon 6-8; +2 more
context: Compound heterozygous candidate
|
37197783
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Journal of medical genetics, 2023
|
Main article | |
| POLR3A |
NM_007055.4:c.3336G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36385762
A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing.
Frontiers in molecular neuroscience, 2022
|
Main article | |
| POLR3A |
NM_007055.4:c.3718G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1795C>A; p.Gln599Lys
context: Compound heterozygous candidate
|
36140376
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy.
Biomedicines, 2022
|
Main article | |
| POLR3A |
NM_007055.4:c.3388G>A
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
36385762
A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing.
Frontiers in molecular neuroscience, 2022
|
Main article | |
| POLR3A |
NM_007055.4:c.2686G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
33208564
Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism.
Asian journal of andrology, 2021
|
Main article | |
| POLR3A |
NM_007055.4:c.2521G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
25133958
Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.
JAMA neurology, 2014
|
Main article | |
| POLR3A |
NM_007055.4:c.1802T>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41732205
RNA-based discovery and correction of splicing defects caused by POLR3A missense mutations.
Molecular therapy. Nucleic acids, 2026
|
Main article | |
| POLR3A |
NM_007055.4:c.2306G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
38231281
Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19.
Journal of clinical immunology, 2024
|
Main article and supplement | |
| POLR3A |
NM_007055.4:c.3476G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36880831
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.
The Journal of experimental medicine, 2023
|
Main article and supplement | |
| POLR3A |
NM_007055.4:c.3499G>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36777185
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Cell genomics, 2022
|
Main article and supplement | |
| POLR3A |
NM_007055.4:c.481G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Main article and supplement | |
| POLR3A |
NM_007055.4:c.2563C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36344544
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature communications, 2022
|
Main article | |