Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
ALMS1, AP3D1, BRCA1, BRCA2, CARD11 and 24 more
Normalized c.HGVS
c.*1053T>G, c.*1199T>C, c.*1251G>A, c.1226C>T, c.1245C>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala306Val), p.(Ala584Val), p.(Arg1397Gly), p.(Arg14439His) and 40 more
Matching records
10641
PM3-positive records
15
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 |
|---|---|---|---|---|---|---|
| TREX1 |
NM_033629.6:c.739G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.553C>T; c.679G>A; G227S
context: Compound heterozygous candidate
|
41593088
Oligoprotein type I interferon signatures, but not TREX1 variants, increase risk of systemic lupus erythematosus in UK Biobank.
Nature communications, 2026
|
Main article | |
| ATM |
NM_000051.4:c.8517C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
38755180
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Nature communications, 2024
|
Main article | |
| ACE |
NM_000789.4:c.2570G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
38071212
RAAS-deficient organoids indicate delayed angiogenesis as a possible cause for autosomal recessive renal tubular dysgenesis.
Nature communications, 2023
|
Main article | |
| NBEAL2 |
NM_015175.3:c.2044A>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
37349339
NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells.
Nature communications, 2023
|
Main article | |
| ATM |
NM_000051.4:c.5189G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
37029129
Homologous recombination deficiency derived from whole-genome sequencing predicts platinum response in triple-negative breast cancers.
Nature communications, 2023
|
Supplementary material | |
| MUTYH |
NM_001048174.2:c.1336C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.603G>T; p.M201I
context: Compound heterozygous candidate
|
35668106
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
Nature communications, 2022
|
Main article | |
| MUTYH |
NM_001048174.2:c.1381G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.536A>G; c.933+3A>C; p.Y179C
context: Compound heterozygous candidate
|
35668106
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures.
Nature communications, 2022
|
Main article | |
| DDX11 |
NM_030653.4:c.1523T>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1949-1G>A; splice site
context: Compound heterozygous candidate
|
32855419
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
Nature communications, 2020
|
Main article | |
| DDX11 |
NM_030653.4:c.2372G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.606delC; p.Y202*
context: Compound heterozygous candidate
|
32855419
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
Nature communications, 2020
|
Main article | |
| DDX11 |
NM_030653.4:c.2692-1G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.169G>C; p.G57R
context: Compound heterozygous candidate
|
32855419
Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion.
Nature communications, 2020
|
Main article | |
| DNAH9 |
NM_001372.4:c.4667A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4969T>A; c.6457G>A; c.662T>C; +5 more
context: Compound heterozygous candidate
|
32098966
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Nature communications, 2020
|
Supplementary material | |
| DNAH9 |
NM_001372.4:c.662T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.G6457A; p.Ala2153Thr; p.Val221Ala
context: Compound heterozygous candidate
|
32098966
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Nature communications, 2020
|
Supplementary material | |
| PSPH |
NM_004577.4:c.94G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
31515488
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature communications, 2019
|
Main article | |
| MFSD8 |
NM_001371596.2:c.291G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with c.999 G > A; K333
context: Confirmed in trans
|
28794409
Annotating pathogenic non-coding variants in genic regions.
Nature communications, 2017
|
Main article | |
| ARPC1B |
NM_005720.4:c.712G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.314C>T; p.Ala105Val
context: Compound heterozygous candidate
|
28368018
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Nature communications, 2017
|
Main article | |
| SLC26A4 |
NM_000441.2:c.1300G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
32165640
Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome.
Nature communications, 2020
|
Main article | |
| RYR1 |
NM_000540.3:c.6989G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
29760388
Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.
Nature communications, 2018
|
Supplementary material | |
| RGS9 |
NM_003835.4:c.1646G>A
|
Other Patient-Level Evidence
High confidence
|
No PM3 candidate genotype identified |
29760388
Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.
Nature communications, 2018
|
Supplementary material | |
| MYO18B |
NM_032608.7:c.7024G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
29760388
Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.
Nature communications, 2018
|
Supplementary material | |
| GIPC3 |
NM_133261.3:c.826G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
29760388
Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.
Nature communications, 2018
|
Supplementary material | |