Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
AARS1, AARS2, ABCA3, ABCA4, ABCB4 and 22 more
Normalized c.HGVS
c.1009T>C, c.1079-15T>A, c.108G>C, c.1100G>A, c.1124T>G and 45 more
Normalized p.HGVS
p.(Ala450Thr), p.(Ala996Glu), p.(Arg1017His), p.(Arg1055Gln), p.(Arg1280Gln) and 42 more
Matching records
933
PM3-positive records
660
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 |
|---|---|---|---|---|---|---|
| BCKDK |
NM_005881.4:c.847G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with deletion in trans; deletion on 16p which includes this gene
context: Confirmed in trans
|
29907797
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.
Genetics in medicine : official journal of the American College of Medical Genetics, 2019
|
Supplementary material | |
| DNAH9 |
NM_001372.4:c.6431G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2968; R/C; R990C
context: Confirmed in trans
|
29738522
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
PLoS genetics, 2018
|
Supplementary material | |
| LZTR1 |
NM_006767.4:c.2089C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.2407-2A>G
context: Confirmed in trans
|
29469822
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Genetics in medicine : official journal of the American College of Medical Genetics, 2018
|
Supplementary material | |
| SZT2 |
NM_001365999.1:c.8471G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with p.P2844L
context: Confirmed in trans
|
28180185
Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.
Neurology. Genetics, 2017
|
Supplementary material | |
| GAA |
NM_000152.5:c.510C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40626179
Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.
Frontiers in genetics, 2025
|
Supplementary material | |
| ATM |
NM_000051.4:c.8269G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4611+9_4611del; c.8520_8524del; c.9038T>A; +2 more
context: Compound heterozygous candidate
|
40596117
Mutational and low-coverage whole genome sequencing identifies actionable DNA repair alterations in prostate cancer plasma DNA.
Scientific reports, 2025
|
Supplementary material | |
| DNAH5 |
NM_001369.3:c.11632G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
40558543
Molecular Insights into Outer Dynein Arm Defects in Primary Ciliary Dyskinesia: Involvement of ZMYND10 and GRP78.
Cells, 2025
|
Supplementary material | |
| SLC25A13 |
NM_014251.3:c.1475G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.674C>A; p.Ser225*
context: Compound heterozygous candidate
|
40309478
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Human mutation, 2025
|
Supplementary material | |
| ATM |
NM_000051.4:c.8672G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6219_6256dup; c.7629+1G>A; c.8495G>A; +6 more
context: Compound heterozygous candidate
|
40179146
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
The Journal of clinical investigation, 2025
|
Supplementary material | |
| ATP7B |
NM_000053.4:c.3671G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40104154
Evaluation of efficacy and safety of AAV8-ΔC4ATP7B gene therapy in a mutant mouse model of Wilson's disease.
Molecular therapy. Methods & clinical development, 2025
|
Supplementary material | |
| LOXHD1 |
NM_001384474.1:c.3874C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40079965
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and Severity.
JAMA ophthalmology, 2025
|
Supplementary material | |
| AP4M1 |
NM_004722.4:c.1100G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.920G>C; p.Gly307Ala
context: Compound heterozygous candidate
|
39723768
Restoring adapter protein complex 4 function with small molecules: an in silico approach to spastic paraplegia 50.
Protein science : a publication of the Protein Society, 2025
|
Supplementary material | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.547G>T; c.611A>G; c.728G>A; +5 more
context: Compound heterozygous candidate
|
39776477
Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening.
Frontiers in public health, 2024
|
Supplementary material | |
| LOXHD1 |
NM_001384474.1:c.1759C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2438T>A; Leu813Ter; Nonsense
context: Compound heterozygous candidate
|
39767564
Next-Generation Sequencing of Chinese Children with Congenital Hearing Loss Reveals Rare and Novel Variants in Known and Candidate Genes.
Biomedicines, 2024
|
Supplementary material | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1238G>C; c.526C>T; c.688G>A; +13 more
context: Compound heterozygous candidate
|
39670100
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China.
PeerJ, 2024
|
Supplementary material | |
| RECQL4 |
NM_004260.4:c.1649C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2212G>T; p.(Asp738Tyr)
context: Compound heterozygous candidate
|
39519399
Germline Variants in DNA Interstrand-Cross Link Repair Genes May Contribute to Increased Susceptibility for Serrated Polyposis Syndrome.
International journal of molecular sciences, 2024
|
Supplementary material | |
| FANCL |
NM_018062.4:c.288G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39519399
Germline Variants in DNA Interstrand-Cross Link Repair Genes May Contribute to Increased Susceptibility for Serrated Polyposis Syndrome.
International journal of molecular sciences, 2024
|
Supplementary material | |
| ATM |
NM_000051.4:c.8246A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Cys1899X
context: Compound heterozygous candidate
|
39386103
The link between ten-eleven translocation-2 (Tet2) related clonal hematopoiesis and sequential onset of two hematologic malignancies.
Genes & diseases, 2024
|
Supplementary material | |
| WFS1 |
NM_006005.3:c.2213C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
39363032
Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.
Scientific reports, 2024
|
Supplementary material | |
| CEP164 |
NM_014956.5:c.2527G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with Y285X
context: Compound heterozygous candidate
|
39337513
Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.
International journal of molecular sciences, 2024
|
Supplementary material | |