Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
ABCA4, ABCG5, ACADVL, ACTA1, ADA and 12 more
Normalized c.HGVS
c.1015C>T, c.10942G>A, c.1123G>T (p.Asp375Tyr), c.1142G>A, c.1142G>T and 42 more
Normalized p.HGVS
p.(=), p.(Ala2622Gly), p.(Ala77Ser), p.(Arg1055Trp), p.(Arg149Lys) and 39 more
Matching records
865
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 |
|---|---|---|---|---|---|---|
| STRC |
NM_153700.2:c.2494C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.4903G>T; c.4917_4918delinsCT; c.5125A>G; +3 more
context: Confirmed in trans
|
36086952
Long-read sequencing for molecular diagnostics in constitutional genetic disorders.
Human mutation, 2022
|
Main article | |
| PMS2 |
NM_000535.7:c.2404C>G
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.123_131delGTTAGTAGA; p.Leu42_Glu44del
context: Confirmed in trans
|
30653781
Biochemical and structural characterization of two variants of uncertain significance in the PMS2 gene.
Human mutation, 2019
|
Main article | |
| HSPG2 |
NM_005529.7:c.337G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.3059C>T; p.Pro1020Leu
context: Confirmed in trans
|
30362252
Early infantile-onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy.
Human mutation, 2019
|
Main article | |
| MARS2 |
NM_138395.4:c.424C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.550C>T; Gln184*
context: Confirmed in trans
|
25754315
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss.
Human mutation, 2015
|
Main article | |
| SLC26A4 |
NM_000441.2:c.-103T>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with p.L236P
context: Confirmed in trans
|
19204907
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
Human mutation, 2009
|
Main article | |
| ATP7B |
NM_000053.4:c.3325G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40661833
Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.
Human mutation, 2025
|
Main article | |
| 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 | |
| SLC25A13 |
NM_014251.3:c.2T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
40309478
Deciphering the Mutational Background in Citrin Deficiency Through a Nationwide Study in Japan and Literature Review.
Human mutation, 2025
|
Main article | |
| MUTYH |
NM_001048174.2:c.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
40225933
Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases.
Human mutation, 2024
|
Main article | |
| GAA |
NM_000152.5:c.1136C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1139C>T; c.1174A>C; c.1559A>T; +7 more
context: Compound heterozygous candidate
|
40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
|
Main article | |
| GAA |
NM_000152.5:c.2105G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2105G>A; c.2105G>T; p.R702H
context: Compound heterozygous candidate
|
40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
|
Main article | |
| GAA |
NM_000152.5:c.49G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
|
Main article | |
| GAA |
NM_000152.5:c.510C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.-32-13T>G
context: Compound heterozygous candidate
|
40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
|
Main article | |
| GAA |
NM_000152.5:c.631G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.406T>A; c.576G>T; c.716T>C; +7 more
context: Compound heterozygous candidate
|
40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
|
Main article | |
| GAA |
NM_000152.5:c.868A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.869A>T; p.N290D
context: Compound heterozygous candidate
|
40225932
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Human mutation, 2024
|
Main article | |
| PMM2 |
NM_000303.3:c.523+3A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Ala233Argfs*100; p.Arg123Ter; p.Cys9AlafsTer27; +6 more
context: Compound heterozygous candidate
|
40225925
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.
Human mutation, 2024
|
Main article | |
| ABCA4 |
NM_000350.3:c.302+68C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4539+2028C>T
context: Compound heterozygous candidate
|
40225145
Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework.
Human mutation, 2023
|
Main article | |
| ABCA4 |
NM_000350.3:c.2576A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2041C > T; Arg681*
context: Compound heterozygous candidate
|
36259723
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Human mutation, 2022
|
Main article | |
| PDE6C |
NM_006204.4:c.1339A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2082G > A; p.(Met694Ile)
context: Compound heterozygous candidate
|
36259723
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Human mutation, 2022
|
Main article | |
| CNGB3 |
NM_019098.5:c.1844A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.886A > T; c.887_896del; Thr296Asnfs*9; +1 more
context: Compound heterozygous candidate
|
36259723
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Human mutation, 2022
|
Main article | |