Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
ADA2, ALB, ALPL, ANK3, ATM and 34 more
Normalized c.HGVS
c.10340A>G, c.1103G>T, c.1159G>T, c.12281T>C, c.1231C>T and 40 more
Normalized p.HGVS
p.(Ala244Val), p.(Ala387Ser), p.(Ala590Ser), p.(Ala92Thr), p.(Arg159Cys) and 39 more
Matching records
435
PM3-positive records
61
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; p.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 | |
| ACAD8 |
NM_014384.3:c.235C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.286G>A; Gly96Ser
context: Compound heterozygous candidate
|
41892026
Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.
International journal of neonatal screening, 2026
|
Main article | |
| GBA1 |
NM_000157.4:c.1279G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41890995
The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis.
medRxiv : the preprint server for health sciences, 2026
|
Main article | |
| DNAH8 |
NM_001206927.2:c.11468C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.13381 C > T; p.(Arg4461Cys)
context: Compound heterozygous candidate
|
41824087
Structural and functional brain asymmetry in relation to heterogeneous causes of situs inversus totalis.
Brain structure & function, 2026
|
Main article | |
| DNAH11 |
NM_001277115.2:c.8671C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6278T>A; Leu2093His
context: Compound heterozygous candidate
|
41824087
Structural and functional brain asymmetry in relation to heterogeneous causes of situs inversus totalis.
Brain structure & function, 2026
|
Main article | |
| DNAAF1 |
NM_178452.6:c.765C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1528+2T>C; p.?; splicing
context: Compound heterozygous candidate
|
41824087
Structural and functional brain asymmetry in relation to heterogeneous causes of situs inversus totalis.
Brain structure & function, 2026
|
Main article | |
| SLC25A13 |
NM_014251.3:c.2T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1638_1660dup; p.Ala554GlyfsTer17
context: Compound heterozygous candidate
|
41809964
Looking Beyond Severe Hypertriglyceridemia when Diagnosing Adult-Onset Citrullinemia Type II.
European journal of case reports in internal medicine, 2026
|
Main article | |
| TRNT1 |
NM_182916.3:c.295C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41795040
Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review.
Journal of clinical immunology, 2026
|
Main article | |
| GAA |
NM_000152.5:c.1123C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2005_2010del; novel deletion
context: Compound heterozygous candidate
|
41783848
Comprehensive review of recent advances in Pompe disease: pathogenesis, management, and future directions.
Frontiers in neurology, 2026
|
Main article | |
| UNC13D |
NM_199242.3:c.2038C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.919 C > T; p.Q307*
context: Compound heterozygous candidate
|
41781714
Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.
Journal of clinical immunology, 2026
|
Main article | |
| UNC13D |
NM_199242.3:c.3229_3235del
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with c.2588G > A; p.G863D
context: Compound heterozygous candidate
|
41781714
Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.
Journal of clinical immunology, 2026
|
Main article | |
| UNC13D |
NM_199242.3:c.887C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2346_2349del; p.R782fs
context: Compound heterozygous candidate
|
41781714
Two Cases of CLIPPERS-like Syndrome Sharing a Hypomorphic UNC13D Variant.
Journal of clinical immunology, 2026
|
Main article | |
| PRORP |
NM_014672.4:c.1235A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Arg445Gln; p.Ser400Ilefs*6
context: Compound heterozygous candidate
|
41772230
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Neurogenetics, 2026
|
Main article | |
| PRORP |
NM_014672.4:c.1261C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
41772230
Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Neurogenetics, 2026
|
Main article | |
| KCNQ1 |
NM_000218.3:c.574C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41768584
Case Report Series: Genetic and clinical characterization of long QT syndrome in admixed Ecuadorian patients and its implications for sudden cardiac death risk.
Frontiers in cardiovascular medicine, 2026
|
Main article | |
| ASS1 |
NM_054012.4:c.-5-10C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.1168G>A; p.Gly390Arg
context: Confirmed in trans
|
41761260
Dual rare genetic variants: case report of a child with SBIDDS syndrome and citrullinemia type 1.
Italian journal of pediatrics, 2026
|
Main article | |
| RYR1 |
NM_000540.3:c.14818G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41753076
The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Journal of clinical medicine, 2026
|
Main article | |
| RYR1 |
NM_000540.3:c.5309C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.7042G>A; Glu2348Lys
context: Compound heterozygous candidate
|
41753076
The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Journal of clinical medicine, 2026
|
Main article | |
| RYR1 |
NM_000540.3:c.6302T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.11969G>T; c.9152G>A; Arg3051His; +1 more
context: Compound heterozygous candidate
|
41753076
The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Journal of clinical medicine, 2026
|
Main article | |
| RYR1 |
NM_000540.3:c.9152G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6302T>A; Met2101Lys
context: Compound heterozygous candidate
|
41753076
The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Journal of clinical medicine, 2026
|
Main article | |