Search GLEAM-DB / CoGenEx-PM3
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Input query
Recognized gene
AARS1, AARS2, AASS, ABAT, ABCA3 and 2 more
Normalized c.HGVS
c.*521C>T, c.-154G>A, c.1054G>A, c.109G>A, c.1106G>A and 44 more
Normalized p.HGVS
p.(=), p.(Ala1324Val), p.(Ala229Val), p.(Ala386Val), p.(Arg1081Gln) and 35 more
Matching records
10641
PM3-positive records
25
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
High confidence
|
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 | |
| ERCC2 |
NM_000400.4:c.1133G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with R722W
context: Compound heterozygous candidate
|
37179334
Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.
Nature communications, 2023
|
Main article | |
| ATM |
NM_000051.4:c.5189G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
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.1103G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.536 G>A; p.Y179C
context: Compound heterozygous candidate
|
35803914
Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.
Nature communications, 2022
|
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 | |
| ATM |
NM_000051.4:c.6919C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
32393777
Protein-altering germline mutations implicate novel genes related to lung cancer development.
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 | |
| BRCA2 |
NM_000059.4:c.7558C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.657_658delTG
context: Compound heterozygous candidate
|
30420702
Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors.
Nature communications, 2018
|
Main article | |
| TTN |
NM_001267550.2:c.16975G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.E13423Dfs*9; Frame Shift
context: Compound heterozygous candidate
|
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
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
29760388
Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.
Nature communications, 2018
|
Supplementary material | |
| TTN |
NM_001267550.2:c.104458G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.10306G>A; c.41077G>A; p.Asp13693Asn; +1 more
context: Compound heterozygous candidate
|
29084941
Multi-dimensional genomic analysis of myoepithelial carcinoma identifies prevalent oncogenic gene fusions.
Nature communications, 2017
|
Supplementary material | |