Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
A4GALT, AARS1, AARS2, ABCA3, ABCA4 and 3 more
Normalized c.HGVS
c.1076G>A, c.1132G>A, c.1182G>A (p.Met394Ile), c.1244G>A, c.125T>C and 45 more
Normalized p.HGVS
p.(=), p.(Ala1112Gly), p.(Ala546Asp), p.(Ala548Val), p.(Ala549Thr) and 34 more
Matching records
6122
PM3-positive records
126
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 | |
| RYR1 |
NM_000540.3:c.6721C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.8068-3C>G; splicing defect
context: Compound heterozygous candidate
|
39999070
Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.
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
Needs review
|
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 | |
| PALB2 |
NM_024675.4:c.1708G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with E1665*
context: Compound heterozygous candidate
|
36107942
Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers.
PloS one, 2022
|
Supplementary material | |
| AHI1 |
NM_001134831.2:c.2638A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2639C>T; p.Ser880Phe
context: Compound heterozygous candidate
|
36037157
Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.
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 | |
| PYGM |
NM_005609.4:c.527A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.148C>T; p.Arg50Ter
context: Compound heterozygous candidate
|
32735634
PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.
PloS one, 2020
|
Supplementary material | |
| 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 | |
| ALPL |
NM_000478.6:c.1540G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
31600233
Japanese nationwide survey of hypophosphatasia reveals prominent differences in genetic and dental findings between odonto and non-odonto types.
PloS one, 2019
|
Main article | |
| CD19 |
NM_001770.6:c.527C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
31335901
AGT haplotype in ITGA4 gene is related to antibody-mediated rejection in heart transplant patients.
PloS one, 2019
|
Supplementary material | |
| CD320 |
NM_016579.4:c.478G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
31335901
AGT haplotype in ITGA4 gene is related to antibody-mediated rejection in heart transplant patients.
PloS one, 2019
|
Supplementary material | |
| 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 | |