Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
Not recognized
Normalized c.HGVS
c.*1251G>A, c.*1531G>A, c.*521C>T, c.*843C>T, c.-103C>G and 45 more
Normalized p.HGVS
p.(=), p.(Arg4437Cys), p.(Asp65His), p.(Lys542Asn), p.(Pro615Thr)
Matching records
56725
PM3-positive records
3182
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 |
|---|---|---|---|---|---|---|
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |