GLEAM-DB

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Input query
Recognized gene
ALG1, ATM, ATP7B, BRCA1, CLN3 and 22 more
Normalized c.HGVS
c.-152C>T, c.104T>C, c.1057G>A, c.1066G>A, c.11602G>A and 45 more
Normalized p.HGVS
p.(Ala1416Thr), p.(Ala158Pro), p.(Ala158Thr), p.(Ala206Thr), p.(Ala353Thr) and 39 more
Matching records
857
PM3-positive records
69

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
SLC34A1 NM_003052.5:c.1361C>T Phase-confirmed PM3 evidence
High confidence
PM3 evidence identified; partner variant not structured
context: Confirmed in trans
 40943461
Identification of a Novel Homozygous SLC34A1 Missense Mutation and a Heterozygous SLC34A3 Deletion in an Infant with Nephrocalcinosis, Failure to Thrive, and Hypercalcemia.
International journal of molecular sciences, 2025
 Main article
Open
ABCA4 NM_000350.3:c.2267C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.157G>A; p.(Glu53Lys)
context: Confirmed in trans
 35806387
Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.
International journal of molecular sciences, 2022
 Main article
Open
USH2A NM_206933.4:c.3045C>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.6992G > A; p.(Gly2331Glu)
context: Confirmed in trans
 31877679
Clinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa.
International journal of molecular sciences, 2019
 Main article
Open
SLC26A4 NM_000441.2:c.1301C>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1730T>C; p.V577A
context: Confirmed in trans
 29320412
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.
International journal of molecular sciences, 2018
 Main article
Open
SLC26A4 NM_000441.2:c.1730T>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1301C>A; p.A434D
context: Confirmed in trans
 29320412
Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.
International journal of molecular sciences, 2018
 Main article
Open
AP4M1 NM_004722.4:c.1346A>G Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 40565278
The Complex Etiology of Epilepsy: Genetic Analysis and HLA Association in Patients in the Middle East.
International journal of molecular sciences, 2025
 Main article
Open
RECQL4 NM_004260.4:c.1649C>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.2212G>T; p.(Asp738Tyr)
context: Compound heterozygous candidate
 39519399
Germline Variants in DNA Interstrand-Cross Link Repair Genes May Contribute to Increased Susceptibility for Serrated Polyposis Syndrome.
International journal of molecular sciences, 2024
 Supplementary material
Open
FANCL NM_018062.4:c.288G>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 39519399
Germline Variants in DNA Interstrand-Cross Link Repair Genes May Contribute to Increased Susceptibility for Serrated Polyposis Syndrome.
International journal of molecular sciences, 2024
 Supplementary material
Open
DBT NM_001918.5:c.1261G>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 39519275
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
International journal of molecular sciences, 2024
 Main article
Open
CEP164 NM_014956.5:c.2527G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with Y285X
context: Compound heterozygous candidate
 39337513
Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.
International journal of molecular sciences, 2024
 Supplementary material
Open
CANT1 NM_001159773.2:c.336C>A Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 39273648
Clinical and Genetic Insights into Desbuquois Dysplasia: Review of 111 Case Reports.
International journal of molecular sciences, 2024
 Main article
Open
GAA NM_000152.5:c.1310G>A Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with c.547-39T>G; c.547-67C>G; L641V; +1 more
context: Compound heterozygous candidate
 39273088
Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study.
International journal of molecular sciences, 2024
 Main article
Open
TTN NM_001267550.2:c.70982C>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.100825C>T; p.(Arg33609*); premature stop
context: Compound heterozygous candidate
 39063061
Undetected Neuromuscular Disease in Patients after Heart Transplantation.
International journal of molecular sciences, 2024
 Main article
Open
GRN NM_002087.4:c.1514C>G Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with Leu271LeufsX10
context: Compound heterozygous candidate
 39000146
Mutational Landscape of Alzheimer's Disease and Frontotemporal Dementia: Regional Variances in Northern, Central, and Southern Italy.
International journal of molecular sciences, 2024
 Main article
Open
ABCA4 NM_000350.3:c.3755A>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.3863-1094T>A
context: Compound heterozygous candidate
 38928247
Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort.
International journal of molecular sciences, 2024
 Main article
Open
TYR NM_000372.5:c.1307G>C Phase-unconfirmed biallelic evidence
High confidence
Confirmed in trans with c.1205G>A; p.(Arg402Gln)
context: Confirmed in trans
 38928147
Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report.
International journal of molecular sciences, 2024
 Main article
Open
ADAMTS18 NM_199355.4:c.2795C>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with p.Asp746Glu
context: Compound heterozygous candidate
 38891949
The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease.
International journal of molecular sciences, 2024
 Supplementary material
Open
RYR1 NM_000540.3:c.4293G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.7879G>A
context: Compound heterozygous candidate
 38542460
An Association between OXPHOS-Related Gene Expression and Malignant Hyperthermia Susceptibility in Human Skeletal Muscle Biopsies.
International journal of molecular sciences, 2024
 Main article
Open
PRF1 NM_001083116.3:c.310C>T Phase-unconfirmed biallelic evidence
High confidence
Confirmed in trans with c.272C>T; A91V; Ala91Val
context: Confirmed in trans
 38474010
Late Onset of Primary Hemophagocytic Lymphohistiocytosis (HLH) with a Novel Constellation of Compound Heterozygosity Involving Two Missense Variants in the PRF1 Gene.
International journal of molecular sciences, 2024
 Main article
Open
GBE1 NM_000158.4:c.467G>A Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.-35_-54del
context: Compound heterozygous candidate
 38139401
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
International journal of molecular sciences, 2023
 Main article
Open