Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
ABCA3, ABCA4, ABCB4, ABCD4, ABCG5 and 18 more
Normalized c.HGVS
c.1015T>G, c.1052C>T, c.1210G>A, c.121G>A, c.1262A>G and 45 more
Normalized p.HGVS
p.(=), p.(Ala1600Val), p.(Ala333Thr), p.(Ala545Thr), p.(Arg1898Cys) and 40 more
Matching records
857
PM3-positive records
88
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 |
|---|---|---|---|---|---|---|
| SLC34A1 |
NM_003052.5:c.1361C>T
|
Phase-confirmed PM3 evidence
High confidence
|
PM3 evidence identified; partner variant not structured
context: Confirmed in trans
|
40943461
Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.
International journal of molecular sciences, 2025
|
Main article | |
| TYR |
NM_000372.5:c.1307G>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1205G>A; p.(Arg402Gln)
context: Confirmed in trans
|
38928147
Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report.
International journal of molecular sciences, 2024
|
Main article | |
| ABCA4 |
NM_000350.3:c.2267C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.157G>A; p.(Glu53Lys)
context: Confirmed in trans
|
35806387
Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.
International journal of molecular sciences, 2022
|
Main article | |
| TTN |
NM_001267550.2:c.8687C>T
|
Phase-confirmed PM3 evidence
Needs review
|
PM3 evidence identified; partner variant not structured
context: Confirmed in trans
|
32927679
State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.
International journal of molecular sciences, 2020
|
Main article | |
| USH2A |
NM_206933.4:c.3045C>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.6992G > A; p.(Gly2331Glu)
context: Confirmed in trans
|
31877679
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
International journal of molecular sciences, 2019
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1301C>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1730T>C; p.V577A
context: Confirmed in trans
|
29320412
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.
International journal of molecular sciences, 2018
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1730T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1301C>A; p.A434D
context: Confirmed in trans
|
29320412
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.
International journal of molecular sciences, 2018
|
Main article | |
| AP4M1 |
NM_004722.4:c.1346A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
40565278
The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.
International journal of molecular sciences, 2025
|
Main article | |
| BRCA1 |
NM_007294.4:c.4096+3A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39596525
Biallelic Germline BRCA1 Frameshift Mutations Associated with Isolated Diminished Ovarian Reserve.
International journal of molecular sciences, 2024
|
Main article | |
| 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 | |
| DBT |
NM_001918.5:c.1261G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39519275
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
International journal of molecular sciences, 2024
|
Main article | |
| 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 | |
| CANT1 |
NM_001159773.2:c.336C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39273648
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
International journal of molecular sciences, 2024
|
Main article | |
| GAA |
NM_000152.5:c.1310G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.547-39T>G; c.547-67C>G; L641V; +1 more
context: Compound heterozygous candidate
|
39273088
Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study.
International journal of molecular sciences, 2024
|
Main article | |
| TTN |
NM_001267550.2:c.70982C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.100825C>T; p.(Arg33609*); premature stop
context: Compound heterozygous candidate
|
39063061
Undetected Neuromuscular Disease in Patients after Heart Transplantation.
International journal of molecular sciences, 2024
|
Main article | |
| GRN |
NM_002087.4:c.1514C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with Leu271LeufsX10
context: Compound heterozygous candidate
|
39000146
Mutational Landscape of Alzheimer's Disease and Frontotemporal Dementia: Regional Variances in Northern, Central, and Southern Italy.
International journal of molecular sciences, 2024
|
Main article | |
| ABCA4 |
NM_000350.3:c.3755A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3863-1094T>A
context: Compound heterozygous candidate
|
38928247
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
International journal of molecular sciences, 2024
|
Main article | |
| ADAMTS18 |
NM_199355.4:c.2795C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Asp746Glu
context: Compound heterozygous candidate
|
38891949
The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease.
International journal of molecular sciences, 2024
|
Supplementary material | |
| RYR1 |
NM_000540.3:c.4293G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.7879G>A
context: Compound heterozygous candidate
|
38542460
An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies.
International journal of molecular sciences, 2024
|
Main article | |