Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
ABCA4, ACADVL, ALDH5A1, AP3D1, ARSA and 34 more
Normalized c.HGVS
c.1001G>A, c.1058G>A, c.1153A>G, c.1209G>T, c.1245C>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala473Thr), p.(Arg173Ser), p.(Arg1751Leu), p.(Arg238Pro) and 44 more
Matching records
6122
PM3-positive records
91
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.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 | |
| NTRK1 |
NM_002529.4:c.2057G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1561T>C; p.F521L
context: Confirmed in trans
|
23799134
Oral and craniofacial manifestations and two novel missense mutations of the NTRK1 gene identified in the patient with congenital insensitivity to pain with anhidrosis.
PloS one, 2013
|
Main article | |
| MSH6 |
NM_000179.3:c.254C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3869C>T; Ser1290Leu
context: Compound heterozygous candidate
|
40554495
Genetic profiling of inherited colorectal cancer syndromes in Tunisian patients.
PloS one, 2025
|
Main article | |
| HBA1 |
NM_000558.3:c.193G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with HbD; β-thalassemia
context: Compound heterozygous candidate
|
40373022
Clinicohematological and molecular analysis of hemoglobin D syndrome and unknown variants in the hemoglobinopathy spectrum of Sindh, Pakistan.
PloS one, 2025
|
Main article | |
| DNAH11 |
NM_001277115.2:c.7772C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.8698C>T; p.(Arg2900*)
context: Compound heterozygous candidate
|
39666657
Correction: DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
PloS one, 2024
|
Main article | |
| RPE65 |
NM_000329.3:c.1298A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.133T>C; c.1543C>T
context: Compound heterozygous candidate
|
38870140
Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies.
PloS one, 2024
|
Main article | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38386645
Genetic changes and testing associated with childhood glaucoma: A systematic review.
PloS one, 2024
|
Main article | |
| IFT172 |
NM_015662.3:c.167A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37471416
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
PloS one, 2023
|
Main article | |
| CYP1B1 |
NM_000104.4:c.732G>T
|
Phase-unconfirmed biallelic evidence
Low confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36083974
Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.
PloS one, 2022
|
Main article | |
| PYGL |
NM_002863.5:c.2017G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35834487
Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.
PloS one, 2022
|
Main article | |
| DNAH11 |
NM_001277115.2:c.7772C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.8698C>T; p.(Arg2900*)
context: Compound heterozygous candidate
|
34133440
DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
PloS one, 2021
|
Main article | |
| OTOF |
NM_194248.3:c.4227+5G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2521G>A; p.Glu841Lys
context: Compound heterozygous candidate
|
34097718
Central auditory maturation and behavioral outcomes after cochlear implantation in prelingual auditory neuropathy spectrum disorder related to OTOF variants (DFNB9): Lessons from pilot study.
PloS one, 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 | |
| OTOF |
NM_194248.3:c.5405C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3205T>G; c.650A>G; p.D217G; +1 more
context: Compound heterozygous candidate
|
31095577
OTOF mutation analysis with massively parallel DNA sequencing in 2,265 Japanese sensorineural hearing loss patients.
PloS one, 2019
|
Main article | |
| PDE6A |
NM_000440.3:c.2131G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1689C>A; c.304C>A; p.Arg102Ser; +1 more
context: Compound heterozygous candidate
|
30543658
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
PloS one, 2018
|
Supplementary material | |
| USH2A |
NM_206933.4:c.4251+3A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.11864G>A; p.Trp3955*
context: Compound heterozygous candidate
|
30543658
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
PloS one, 2018
|
Supplementary material | |
| TTN |
NM_001267550.2:c.106403T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.101774_101776 dupAAG; c.74305A>G; p.Asn24769Asp; +2 more
context: Compound heterozygous candidate
|
29253866
High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.
PloS one, 2017
|
Supplementary material | |
| DAG1 |
NM_004393.6:c.220G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with D111N
context: Compound heterozygous candidate
|
29036200
The effect of the pathological V72I, D109N and T190M missense mutations on the molecular structure of α-dystroglycan.
PloS one, 2017
|
Main article | |
| TTN |
NM_001267550.2:c.64916G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.74275T>C; p.24759S>P
context: Compound heterozygous candidate
|
28771489
Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.
PloS one, 2017
|
Supplementary material | |
| DOCK8 |
NM_203447.4:c.4041C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with 3079G>A; 4041C>A; V1027I; +1 more
context: Compound heterozygous candidate
|
28750028
Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.
PloS one, 2017
|
Main article | |