GLEAM-DB

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Input query
Recognized gene
AARS1, AARS2, ABAT, ABCA3, ABCA4 and 18 more
Normalized c.HGVS
c.1043T>G, c.1054G>A, c.1063G>A, c.1082C>G, c.1121G>C and 45 more
Normalized p.HGVS
p.(=), p.(Ala170Ser), p.(Ala170Thr), p.(Ala331Thr), p.(Ala383Thr) and 44 more
Matching records
2545
PM3-positive records
4

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.

Download current query results as TSV
Gene Variant Evidence PM3 context Publication Reviewed source Actions
ADA NM_000022.4:c.778G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.646G>A; p.G216R
context: Compound heterozygous candidate
 38355973
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.
Nature medicine, 2024
 Main article
Open
DNAH1 NM_015512.5:c.9814C>T Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 29967352
Functional diversity and cooperativity between subclonal populations of pediatric glioblastoma and diffuse intrinsic pontine glioma cells.
Nature medicine, 2018
 Supplementary material
Open
TUBGCP6 NM_020461.4:c.3226C>T Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 29967352
Functional diversity and cooperativity between subclonal populations of pediatric glioblastoma and diffuse intrinsic pontine glioma cells.
Nature medicine, 2018
 Supplementary material
Open
ASPM NM_018136.5:c.9577C>T Phase-unconfirmed biallelic evidence
Needs review
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
 25326804
Age-related mutations associated with clonal hematopoietic expansion and malignancies.
Nature medicine, 2014
 Supplementary material
Open
NTRK1 NM_002529.4:c.1783G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 41639379
Repotrectinib in NTRK fusion-positive advanced solid tumors: a phase 1/2 trial.
Nature medicine, 2026
 Main article
Open
RELN NM_005045.4:c.10340A>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 37188781
Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.
Nature medicine, 2023
 Main article
Open
ATM NM_000051.4:c.1009C>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36928818
Neoadjuvant chemotherapy plus nivolumab with or without ipilimumab in operable non-small cell lung cancer: the phase 2 platform NEOSTAR trial.
Nature medicine, 2023
 Main article and supplement
Open
RECQL4 NM_004260.4:c.2005C>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36732629
Landscape of pathogenic mutations in premature ovarian insufficiency.
Nature medicine, 2023
 Main article and supplement
Open
PKHD1 NM_138694.4:c.6779A>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36658419
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Nature medicine, 2023
 Main article and supplement
Open
PKHD1 NM_138694.4:c.7238G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36658419
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Nature medicine, 2023
 Main article and supplement
Open
ALMS1 NM_001378454.1:c.6854G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36357675
Rare and common genetic determinants of metabolic individuality and their effects on human health.
Nature medicine, 2022
 Main article
Open
SLC7A7 NM_003982.4:c.272C>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36357675
Rare and common genetic determinants of metabolic individuality and their effects on human health.
Nature medicine, 2022
 Main article
Open
MUTYH NM_001128425.2:c.17C>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 35970919
Genomic and transcriptomic determinants of response to neoadjuvant therapy in rectal cancer.
Nature medicine, 2022
 Main article
Open
ATM NM_000051.4:c.3152A>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 35962206
Pan-cancer efficacy of pralsetinib in patients with RET fusion-positive solid tumors from the phase 1/2 ARROW trial.
Nature medicine, 2022
 Main article
Open
ATM NM_000051.4:c.3152A>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 35962206
Pan-cancer efficacy of pralsetinib in patients with RET fusion-positive solid tumors from the phase 1/2 ARROW trial.
Nature medicine, 2022
 Main article
Open
ATM NM_000051.4:c.6313A>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 35962206
Pan-cancer efficacy of pralsetinib in patients with RET fusion-positive solid tumors from the phase 1/2 ARROW trial.
Nature medicine, 2022
 Main article
Open
MAT1A NM_000429.3:c.488G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 32778825
The role of exome sequencing in newborn screening for inborn errors of metabolism.
Nature medicine, 2020
 Main article
Open
ATM NM_000051.4:c.4336G>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 31768066
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.
Nature medicine, 2019
 Main article
Open
ATM NM_000051.4:c.4354G>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 31768066
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.
Nature medicine, 2019
 Main article
Open
ATM NM_000051.4:c.4354G>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 31768066
High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.
Nature medicine, 2019
 Main article
Open