GLEAM-DB

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Input query
Recognized gene
AARS2, ABCA4, ACADVL, ACD, AGRN and 37 more
Normalized c.HGVS
c.1003C>T, c.1103G>A, c.1156C>T, c.1213C>A, c.1269G>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala283Thr), p.(Arg1060Trp), p.(Arg1101Trp), p.(Arg113Trp) and 44 more
Matching records
223
PM3-positive records
223

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
MVK NM_000431.4:c.151C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1027C>T; L343P
context: Confirmed in trans
 41585027
Case Report: Clinical application of an in vitro prenylation assay in the diagnosis of an early-onset case of mevalonate kinase deficiency harbouring a novel MVK variant.
Frontiers in pediatrics, 2026
 Main article
Open
MSH6 NM_000179.3:c.4070T>G Phase-confirmed PM3 evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 41127740
Uncovering a Novel Homozygous MSH6 Variant in a Child Presenting With Glioblastoma: A Case of Constitutional Mismatch Repair Deficiency.
Cureus, 2025
 Main article
Open
MVK NM_000431.4:c.1049A>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1129G>A; V377I
context: Confirmed in trans
 41112284
Case Report: Mevalonate kinase deficiency: an underdiagnosed cause of ischemic stroke-characterization of a novel genetic variant.
Frontiers in immunology, 2025
 Main article
Open
COX20 NM_198076.6:c.2T>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.41A>G; p.Lys14Arg
context: Confirmed in trans
 41010014
Mitochondrial Complex IV Deficiency Nuclear Type 11 Caused by a Novel Start-Lost Variant in the COX20 Gene.
Genes, 2025
 Main article
Open
GAA NM_000152.5:c.1123C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.2005_2010del; p.Pro669_Phe670del; del
context: Confirmed in trans
 40981304
Umbilical Cord Blood Sampling for Newborn Screening of Pompe Disease and the Detection of a Novel Pathogenic Variant and Pseudodeficiency Variants in an Asian Population.
International journal of neonatal screening, 2025
 Main article
Open
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
USH2A NM_206933.4:c.7951A>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.2276G>T; p.(Cys759Phe)
context: Confirmed in trans
 40926010
Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.
Eye (London, England), 2025
 Main article
Open
DIS3L2 NM_152383.5:c.2381G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.127C>T; Arg43Ter
context: Confirmed in trans
 40704758
Three Siblings With an Attenuated Presentation of Perlman Syndrome: A Case Report and Literature Review.
Molecular genetics & genomic medicine, 2025
 Main article
Open
DNAH9 NM_001372.4:c.6215G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.679C > G
context: Confirmed in trans
 40694277
When Primary Ciliary Dyskinesia Is Diagnosed in Utero: Insights from Two Families.
Advances in therapy, 2025
 Main article
Open
DNAH9 NM_001372.4:c.679C>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.6215G > A
context: Confirmed in trans
 40694277
When Primary Ciliary Dyskinesia Is Diagnosed in Utero: Insights from Two Families.
Advances in therapy, 2025
 Main article
Open
OTOGL NM_001378609.3:c.442A>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with p.Phe319del
context: Confirmed in trans
 40682330
Biallelic Mutations in the Otogelin-Like Gene (OTOGL) Associated With Congenital Non-Syndromic Sensorineural Hearing Loss in a Chinese Family.
Molecular genetics & genomic medicine, 2025
 Main article
Open
ACADVL NM_000018.4:c.1269G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1055T>C; p.Met352Thr
context: Confirmed in trans
 40678976
Characterization of Variants of Uncertain Significance in ACADVL Gene From a Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Patient.
Molecular genetics & genomic medicine, 2025
 Main article
Open
MFSD8 NM_001371596.2:c.291G>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1006G>C; p.Glu336Gln
context: Confirmed in trans
 40535027
Exclusively Macular Phenotype of Non-Syndromic MFSD8-Related Disease: A Case Report.
Case reports in ophthalmology, 2025
 Main article
Open
CRB2 NM_173689.7:c.1813C>T Phase-confirmed PM3 evidence
High confidence
PM3 evidence identified; partner variant not structured
context: Confirmed in trans
 40456931
Expanded CRB2-related disease phenotype: multisystem involvement and post-transplant complications in monozygotic twins.
Pediatric nephrology (Berlin, Germany), 2025
 Main article
Open
TK2 NM_004614.5:c.704T>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.182G>A; p.Ser61Asn
context: Confirmed in trans
 40030095
Infantile TK2 Deficiency Causing Mitochondrial Encephalomyopathy With Migrating Focal Seizures.
Neurology, 2025
 Main article
Open
ATP13A2 NM_022089.4:c.649G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with NM_022089.4:c.2097delC; c.2097delC; p.Pro699fs; +1 more
context: Confirmed in trans
 39935284
Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity.
Molecular genetics & genomic medicine, 2025
 Main article
Open
TRIOBP NM_001039141.3:c.4910C>G Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.3815-3816del; p. Val1272AlafsTer108
context: Confirmed in trans
 39916398
A 250-kb Microdeletion Identified in Chromosome 16 Is Associated With Non-Syndromic Sensorineural Hearing Loss in a South Indian Consanguineous Family.
Journal of audiology & otology, 2025
 Main article
Open
ERLIN2 NM_007175.8:c.869C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.660delA; Val221Trpfs*13; frameshift
context: Confirmed in trans
 39762222
Association of novel ERLIN2 gene variants with hereditary spastic paraplegia.
Human genome variation, 2025
 Main article
Open
RYR1 NM_000540.3:c.3619G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.6856C>G; p.Leu2286Val
context: Confirmed in trans
 39742415
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
European journal of neurology, 2025
 Main article
Open
RDH12 NM_152443.3:c.194G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.506G>A; p.(Arg169Gln)
context: Confirmed in trans
 39693083
Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.
Investigative ophthalmology & visual science, 2024
 Main article
Open