GLEAM-DB

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Input query
Recognized gene
AARS1, AARS2, ABAT, ABCA3, ABCA4 and 4 more
Normalized c.HGVS
c.1121G>C, c.1199G>A, c.1202C>T, c.1210G>A, c.1274G>A and 45 more
Normalized p.HGVS
p.(Ala1297Thr), p.(Ala1324Thr), p.(Ala1326Gly), p.(Ala1405Val), p.(Ala226Val) and 43 more
Matching records
4883
PM3-positive records
38

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
UNC13D NM_199242.3:c.859-3C>T Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with c.2955-2A > G
context: Confirmed in trans
 26419432
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Genome medicine, 2015
 Main article
Open
TTN NM_001267550.2:c.106919T>C Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.91476T>A; Tyr30492Ter
context: Compound heterozygous candidate
 41749372
A comprehensive framework for the interpretation of TTN missense variants.
Genome medicine, 2026
 Main article
Open
GALC NM_000153.4:c.1912G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.1901 T > C
context: Compound heterozygous candidate
 40355959
Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.
Genome medicine, 2025
 Main article
Open
LZTR1 NM_006767.4:c.1735G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.2330 T > C; p.Leu777Pro
context: Compound heterozygous candidate
 39472908
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Genome medicine, 2024
 Main article
Open
LZTR1 NM_006767.4:c.1735G>C Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with c.1735G > A; p.Val579Met
context: Compound heterozygous candidate
 39472908
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Genome medicine, 2024
 Main article
Open
LZTR1 NM_006767.4:c.1735G>T Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with c.2330 T > C; p.Leu777Pro
context: Compound heterozygous candidate
 39472908
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discovery.
Genome medicine, 2024
 Main article
Open
RDH12 NM_152443.3:c.-123C>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.701G>A; c.735_743del; p.Arg234His; +1 more
context: Compound heterozygous candidate
 38184646
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease.
Genome medicine, 2024
 Main article
Open
ABHD12 NM_001042472.3:c.952G>A Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 38098057
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Genome medicine, 2023
 Main article
Open
SEC23B NM_006363.6:c.1512-16A>G Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.40C > T; p.Arg14Trp
context: Compound heterozygous candidate
 37946251
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Genome medicine, 2023
 Main article
Open
IFT140 NM_014714.4:c.3130C>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 37805537
Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study.
Genome medicine, 2023
 Main article
Open
FA2H NM_024306.5:c.977G>T Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 37679823
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Genome medicine, 2023
 Supplementary material
Open
EPM2A NM_005670.4:c.148G>A Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 36703223
The genomic landscape of rare disorders in the Middle East.
Genome medicine, 2023
 Supplementary material
Open
EPM2A NM_005670.4:c.148G>T Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 36703223
The genomic landscape of rare disorders in the Middle East.
Genome medicine, 2023
 Supplementary material
Open
LARGE1 NM_133642.5:c.26G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.500C>G; p.(Pro167Arg)
context: Compound heterozygous candidate
 36703223
The genomic landscape of rare disorders in the Middle East.
Genome medicine, 2023
 Supplementary material
Open
PARS2 NM_152268.4:c.706A>G Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 36703223
The genomic landscape of rare disorders in the Middle East.
Genome medicine, 2023
 Supplementary material
Open
FIG4 NM_014845.6:c.421C>T Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 35260199
A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.
Genome medicine, 2022
 Main article
Open
ATM NM_000051.4:c.6490G>A Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with p.L2332fs
context: Compound heterozygous candidate
 32471518
Ancestry-specific predisposing germline variants in cancer.
Genome medicine, 2020
 Main article
Open
PEX6 NM_000287.4:c.1654C>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.C100A; p.L34M
context: Compound heterozygous candidate
 31253177
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome medicine, 2019
 Supplementary material
Open
CACNA1B NM_000718.4:c.5584G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.G1742A; c.G5803T; p.E1935*; +1 more
context: Compound heterozygous candidate
 31253177
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome medicine, 2019
 Supplementary material
Open
SLX4 NM_032444.4:c.3308G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.C3116A; p.P1039H
context: Compound heterozygous candidate
 31253177
Evolving neoantigen profiles in colorectal cancers with DNA repair defects.
Genome medicine, 2019
 Supplementary material
Open