Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
ATM, BRCA2, CDH23, COG1, COL1A2 and 26 more
Normalized c.HGVS
c.10007C>T, c.1103G>T, c.1135T>C, c.1184C>T, c.1255A>G and 45 more
Normalized p.HGVS
p.(Ala1281Val), p.(Ala2100Thr), p.(Ala2257Ser), p.(Ala2539Val), p.(Ala395Val) and 45 more
Matching records
4883
PM3-positive records
20
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 |
|---|---|---|---|---|---|---|
| TTN |
NM_001267550.2:c.106919T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.91476T>A; Tyr30492Ter
context: Compound heterozygous candidate
|
41749372
A comprehensive framework for the interpretation of TTN missense variants.
Genome medicine, 2026
|
Main article | |
| GALC |
NM_000153.4:c.1912G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1901 T > C
context: Compound heterozygous candidate
|
40355959
Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.
Genome medicine, 2025
|
Main article | |
| LZTR1 |
NM_006767.4:c.1735G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2330 T > C; p.Leu777Pro
context: Compound heterozygous candidate
|
39472908
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Genome medicine, 2024
|
Main article | |
| RDH12 |
NM_152443.3:c.-123C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.701G>A; c.735_743del; p.Arg234His; +1 more
context: Compound heterozygous candidate
|
38184646
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Genome medicine, 2024
|
Main article | |
| ABHD12 |
NM_001042472.3:c.952G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38098057
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Genome medicine, 2023
|
Main article | |
| SEC23B |
NM_006363.6:c.1512-16A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.40C > T; p.Arg14Trp
context: Compound heterozygous candidate
|
37946251
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Genome medicine, 2023
|
Main article | |
| IFT140 |
NM_014714.4:c.3130C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37805537
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Genome medicine, 2023
|
Main article | |
| EPM2A |
NM_005670.4:c.148G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36703223
The genomic landscape of rare disorders in the Middle East.
Genome medicine, 2023
|
Supplementary material | |
| LARGE1 |
NM_133642.5:c.26G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.500C>G; p.(Pro167Arg)
context: Compound heterozygous candidate
|
36703223
The genomic landscape of rare disorders in the Middle East.
Genome medicine, 2023
|
Supplementary material | |
| PARS2 |
NM_152268.4:c.706A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
36703223
The genomic landscape of rare disorders in the Middle East.
Genome medicine, 2023
|
Supplementary material | |
| ATM |
NM_000051.4:c.6490G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.L2332fs
context: Compound heterozygous candidate
|
32471518
Ancestry-specific predisposing germline variants in cancer.
Genome medicine, 2020
|
Main article | |
| WRAP53 |
NM_001143992.2:c.1159C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
31203817
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Genome medicine, 2019
|
Main article | |
| PRKDC |
NM_006904.7:c.559A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with W4038C
context: Compound heterozygous candidate
|
31203817
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Genome medicine, 2019
|
Supplementary material | |
| POMT2 |
NM_013382.7:c.2083T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
31014393
Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome.
Genome medicine, 2019
|
Main article | |
| B3GALNT2 |
NM_152490.5:c.802G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
29273094
B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
Genome medicine, 2017
|
Main article | |
| LAMA2 |
NM_000426.4:c.715C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28554332
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Genome medicine, 2017
|
Supplementary material | |
| GLDC |
NM_000170.3:c.1832T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with L726Q; P647L
context: Compound heterozygous candidate
|
27799067
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
Genome medicine, 2016
|
Supplementary material | |
| HPS6 |
NM_024747.6:c.1810C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2323C>G; L775V
context: Compound heterozygous candidate
|
25949529
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Genome medicine, 2015
|
Main article | |
| HPS6 |
NM_024747.6:c.2323C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1810C>G; L604V
context: Compound heterozygous candidate
|
25949529
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
Genome medicine, 2015
|
Main article | |
| STRC |
NM_153700.2:c.2614C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with WHOLE GENE DELETION INCLUDING CATSPER2
context: Compound heterozygous candidate
|
24963352
Copy number variants are a common cause of non-syndromic hearing loss.
Genome medicine, 2014
|
Supplementary material | |