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Recognized gene
SZT2
Normalized c.HGVS
c.1000G>T, c.1007T>G, c.1027C>T, c.1039C>T, c.1055G>A and 45 more
Normalized p.HGVS
p.(Ala1230Gly), p.(Ala1230Val), p.(Ala1248Ser), p.(Ala1248Val), p.(Ala938Thr) and 45 more
Matching records
296
PM3-positive records
12
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 |
|---|---|---|---|---|---|---|
| SZT2 |
NM_001365999.1:c.4540C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1444C>T; p.(Arg482Cys)
context: Compound heterozygous candidate
|
38250573
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Frontiers in genetics, 2024
|
Main article | |
| SZT2 |
NM_001365999.1:c.7513C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.9458G>A; p.Arg3153His
context: Compound heterozygous candidate
|
37820178
Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.
Revista da Associacao Medica Brasileira (1992), 2023
|
Main article | |
| SZT2 |
NM_001365999.1:c.3803G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c8435delC; p.Ser2812Leufs*41; c8435delC
context: Confirmed in trans
|
37760843
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Biomedicines, 2023
|
Main article | |
| SZT2 |
NM_001365999.1:c.4720C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.2798C>T; p.Ser933Phe
context: Confirmed in trans
|
37760843
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Biomedicines, 2023
|
Main article | |
| SZT2 |
NM_001365999.1:c.6916G>C
|
Phase-unconfirmed biallelic evidence
Low confidence
|
Confirmed in trans with c.5499delC; p.Phe1834Serfs*47
context: Confirmed in trans
|
37760843
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Biomedicines, 2023
|
Main article | |
| SZT2 |
NM_001365999.1:c.5551C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.8773C>T; p.His2925Tyr
context: Compound heterozygous candidate
|
37213690
SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation.
Frontiers in molecular neuroscience, 2023
|
Main article | |
| SZT2 |
NM_001365999.1:c.9800G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.8470G>C; p.Glu2824Gln
context: Confirmed in trans
|
37213690
SZT2 variants associated with partial epilepsy or epileptic encephalopathy and the genotype-phenotype correlation.
Frontiers in molecular neuroscience, 2023
|
Main article | |
| SZT2 |
NM_001365999.1:c.9821G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.247C>A; c.4085A>G; c.6376C>T; +3 more
context: Compound heterozygous candidate
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| SZT2 |
NM_001365999.1:c.5876T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2887A>G; p.Lys953Glu; p.Lys963Glu
context: Compound heterozygous candidate
|
36034301
Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity.
Frontiers in neurology, 2022
|
Main article | |
| SZT2 |
NM_001365999.1:c.6284A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1261+1G>A; p.?
context: Compound heterozygous candidate
|
31406558
Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Molecular autism, 2019
|
Main article | |
| SZT2 |
NM_001365999.1:c.6916G>C
|
Phase-unconfirmed biallelic evidence
Low confidence
|
Confirmed in trans with c.5499delC; p.Phe1834Serfs*47
context: Confirmed in trans
|
29696782
Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.
American journal of medical genetics. Part A, 2018
|
Main article | |
| SZT2 |
NM_001365999.1:c.6916G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Pro1833fs
context: Compound heterozygous candidate
|
27159321
Whole exome sequencing in patients with white matter abnormalities.
Annals of neurology, 2016
|
Main article | |
| SZT2 |
NM_001365999.1:c.2950A>G
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
34816733
Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death.
Journal of the American Heart Association, 2021
|
Main article | |
| SZT2 |
NM_001365999.1:c.4210C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
38623954
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study.
The Journal of clinical endocrinology and metabolism, 2025
|
Main article | |
| SZT2 |
NM_001365999.1:c.6284A>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39024300
Clinical description and evaluation of 30 pediatric patients with ultra-rare diseases: A multicenter study with real-world data from Saudi Arabia.
PloS one, 2024
|
Main article | |
| SZT2 |
NM_001365999.1:c.5092C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
38250573
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Frontiers in genetics, 2024
|
Main article | |
| SZT2 |
NM_001365999.1:c.8141G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
37760843
Insight into Genetic Mutations of SZT2: Is It a Syndrome?
Biomedicines, 2023
|
Main article | |
| SZT2 |
NM_001365999.1:c.7817G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
37012232
Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature communications, 2023
|
Main article | |
| SZT2 |
NM_001365999.1:c.8930C>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36945587
Relapse timing is associated with distinct evolutionary dynamics in DLBCL.
medRxiv : the preprint server for health sciences, 2023
|
Main article | |
| SZT2 |
NM_001365999.1:c.8930C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
36945587
Relapse timing is associated with distinct evolutionary dynamics in DLBCL.
medRxiv : the preprint server for health sciences, 2023
|
Main article | |