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Recognized gene
UNC13D
Normalized c.HGVS
c.1024A>G, c.1156C>T, c.1193C>T, c.1216G>A, c.1241G>A and 45 more
Normalized p.HGVS
p.(Ala1085Val), p.(Ala695Thr), p.(Arg1061Gln), p.(Arg1065Gln), p.(Arg1087Gln) and 44 more
Matching records
152
PM3-positive records
15
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 |
|---|---|---|---|---|---|---|
| UNC13D |
NM_199242.3:c.859-3C>T
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.2955-2A > G
context: Confirmed in trans
|
26419432
A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Genome medicine, 2015
|
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 | |
| UNC13D |
NM_199242.3:c.2384T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Arg928Cys
context: Compound heterozygous candidate
|
36198812
Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis.
Genes and immunity, 2022
|
Main article | |
| UNC13D |
NM_199242.3:c.3229_3235del
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with c.2588G>A; p.Arg1077SerfsTer48; p.Gly863Asp
context: Compound heterozygous candidate
|
35572515
T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.
Frontiers in immunology, 2022
|
Supplementary material | |
| UNC13D |
NM_199242.3:c.1193C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
35482138
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
Journal of clinical immunology, 2022
|
Supplementary material | |
| UNC13D |
NM_199242.3:c.46C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1066C>T; p.R356W
context: Compound heterozygous candidate
|
34368327
Familial hemophagocytic lymphohistiocytosis type 2 in a female Chinese neonate: A case report and review of the literature.
World journal of clinical cases, 2021
|
Main article | |
| UNC13D |
NM_199242.3:c.1189G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with G863D
context: Confirmed in trans
|
34185399
Clinical and genetic features of Epstein-Barr virus-triggered late-onset primary hemophagocytic lymphohistiocytosis: Ten pedigrees study.
Clinical and translational medicine, 2021
|
Main article | |
| UNC13D |
NM_199242.3:c.2756C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with H151R
context: Confirmed in trans
|
34185399
Clinical and genetic features of Epstein-Barr virus-triggered late-onset primary hemophagocytic lymphohistiocytosis: Ten pedigrees study.
Clinical and translational medicine, 2021
|
Main article | |
| UNC13D |
NM_199242.3:c.3145C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
33822308
Selected Abstracts from the 12(th) Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.
Journal of clinical immunology, 2021
|
Main article | |
| UNC13D |
NM_199242.3:c.3134C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2553 + 5C > G
context: Compound heterozygous candidate
|
29357941
Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China.
Orphanet journal of rare diseases, 2018
|
Main article | |
| UNC13D |
NM_199242.3:c.3134C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
29113160
Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma.
Oncology letters, 2017
|
Main article | |
| UNC13D |
NM_199242.3:c.1241G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with c.C817T; p.R273X
context: Confirmed in trans
|
27164702
Progressive neurologic disorder: Initial manifestation of hemophagocytic lymphohistiocytosis.
Neurology, 2016
|
Main article | |
| UNC13D |
NM_199242.3:c.1193C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
21248318
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Journal of medical genetics, 2011
|
Main article | |
| UNC13D |
NM_199242.3:c.2243C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36192439
Assessing the digenic model in rare disorders using population sequencing data.
European journal of human genetics : EJHG, 2022
|
Supplementary material | |
| UNC13D |
NM_199242.3:c.3160A>G
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36192439
Assessing the digenic model in rare disorders using population sequencing data.
European journal of human genetics : EJHG, 2022
|
Supplementary material | |
| UNC13D |
NM_199242.3:c.5C>T
|
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 | |
| UNC13D |
NM_199242.3:c.335G>C
|
Other Patient-Level Evidence
Needs review
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
23840885
Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome.
PloS one, 2013
|
Main article | |
| UNC13D |
NM_199242.3:c.1607G>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41128815
A novel fusion gene of NUP98::CYP2F2P in myeloid neoplasm.
Annals of hematology, 2025
|
Main article | |