Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
LYST
Normalized c.HGVS
c.10417G>A, c.10468G>A, c.10630A>G, c.10838A>G, c.109A>G and 45 more
Normalized p.HGVS
p.(Ala2357Gly), p.(Ala635Thr), p.(Arg1104Gln), p.(Arg2050Trp), p.(Arg2225Ser) and 45 more
Matching records
314
PM3-positive records
14
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 |
|---|---|---|---|---|---|---|
| LYST |
NM_000081.4:c.949G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40959467
Prenatal diagnosis using next-generation sequencing in genetic counseling: Novel mutations in three large Iranian families: A case series.
International journal of reproductive biomedicine, 2025
|
Main article | |
| LYST |
NM_000081.4:c.7385C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.c.6710A>C; p.Q2237P
context: Compound heterozygous candidate
|
38034538
Safety and efficacy of canakinumab treatment for undifferentiated autoinflammatory diseases: the data of a retrospective cohort two-centered study.
Frontiers in medicine, 2023
|
Main article | |
| LYST |
NM_000081.4:c.6079G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37985737
Genetic determinants of severe COVID-19 in young Asian and Middle Eastern patients: a case series.
Scientific reports, 2023
|
Main article | |
| LYST |
NM_000081.4:c.6454A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2465C>T; p.Thr822Ile
context: Compound heterozygous candidate
|
35960392
Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.
Journal of neurology, 2022
|
Supplementary material | |
| LYST |
NM_000081.4:c.7688C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with NM_000081:c.6782G>A; p.R2261H
context: Compound heterozygous candidate
|
34355501
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Journal of thrombosis and haemostasis : JTH, 2021
|
Supplementary material | |
| LYST |
NM_000081.4:c.2438G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 1:235894468:C:G; W2937C
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| LYST |
NM_000081.4:c.2570C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.9930delT; p.F3310LfsX36
context: Compound heterozygous candidate
|
28458669
Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients.
Frontiers in immunology, 2017
|
Main article | |
| LYST |
NM_000081.4:c.2480T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
26684649
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Genome medicine, 2015
|
Main article | |
| LYST |
NM_000081.4:c.2909T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
26684649
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Genome medicine, 2015
|
Main article | |
| LYST |
NM_000081.4:c.2909T>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
26684649
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Genome medicine, 2015
|
Main article | |
| LYST |
NM_000081.4:c.6266C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
26684649
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Genome medicine, 2015
|
Main article | |
| LYST |
NM_000081.4:c.7070C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
26684649
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Genome medicine, 2015
|
Main article | |
| LYST |
NM_000081.4:c.7997T>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
26684649
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Genome medicine, 2015
|
Main article | |
| LYST |
NM_000081.4:c.2570C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.9930delT; F3310fsX3346
context: Compound heterozygous candidate
|
25129365
Towards the targeted management of Chediak-Higashi syndrome.
Orphanet journal of rare diseases, 2014
|
Main article | |
| LYST |
NM_000081.4:c.7385C>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
39980892
Post-COVID-19 Neutropenia in an Infant With Thalassemia Minor: Case Report.
Clinical case reports, 2025
|
Main article | |
| LYST |
NM_000081.4:c.2465C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
35960392
Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.
Journal of neurology, 2022
|
Supplementary material | |
| LYST |
NM_000081.4:c.10235G>A
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
34187503
Intravenous administration of anakinra in children with macrophage activation syndrome.
Pediatric rheumatology online journal, 2021
|
Main article | |
| LYST |
NM_000081.4:c.3107A>C
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
30899265
Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis.
Frontiers in immunology, 2019
|
Main article | |
| LYST |
NM_000081.4:c.7994A>G
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
30899265
Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis.
Frontiers in immunology, 2019
|
Main article | |
| LYST |
NM_000081.4:c.1676G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39844836
Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors.
Frontiers in cellular and infection microbiology, 2025
|
Main article | |