Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
ATM, ATP6V1B1, B3GALT6, BIN1, CC2D2A and 31 more
Normalized c.HGVS
c.-32-13T>G, c.10102G>A, c.1103G>T, c.1294G>A, c.1366C>T and 43 more
Normalized p.HGVS
p.(=), p.(Ala182Thr), p.(Ala220Ser), p.(Ala2753Thr), p.(Ala3190Val) and 41 more
Matching records
4816
PM3-positive records
293
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 |
|---|---|---|---|---|---|---|
| GNE |
NM_005476.7:c.1259G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.416_426del; p.Ile139Argfs*4
context: Confirmed in trans
|
34858435
Severe Congenital Thrombocytopenia Characterized by Decreased Platelet Sialylation and Moderate Complement Activation Caused by Novel Compound Heterozygous Variants in GNE.
Frontiers in immunology, 2021
|
Main article | |
| SCO2 |
NM_005138.3:c.179G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.577G>A; p.(Gly193Ser)
context: Confirmed in trans
|
34746378
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants.
Neurology. Genetics, 2021
|
Main article | |
| ATM |
NM_000051.4:c.9156G>T
|
Phase-confirmed PM3 evidence
Low confidence
|
Homozygous for query variant
context: Confirmed in trans
|
34728979
Abnormal Saccades Differentiate Adolescent Onset Variant Ataxia Telangiectasia from Other Myoclonus Dystonia.
Annals of Indian Academy of Neurology, 2021
|
Main article | |
| WDR62 |
NM_001083961.2:c.3878C>A
|
Phase-confirmed PM3 evidence
High confidence
|
PM3 evidence identified; partner variant not structured
context: Confirmed in trans
|
34728968
Association of Infantile Spasms and Hypsarrhythmia with Primary Microcephaly- Three Case Reports.
Annals of Indian Academy of Neurology, 2021
|
Main article | |
| DARS2 |
NM_018122.5:c.508C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.228‐16C>A
context: Confirmed in trans
|
34631948
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity.
Movement disorders clinical practice, 2021
|
Main article | |
| LAMA2 |
NM_000426.4:c.7681G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.4840A>G; p.Asn1614Asp
context: Confirmed in trans
|
34528292
Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.
Journal of clinical laboratory analysis, 2021
|
Main article | |
| TBC1D24 |
NM_001199107.2:c.643T>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.641G > A; p.(Arg214His)
context: Confirmed in trans
|
34440452
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.
Genes, 2021
|
Main article | |
| PIEZO1 |
NM_001142864.4:c.4027GAG[1]
|
Phase-confirmed PM3 evidence
Not assessed
|
Confirmed in trans with c.3895C > T; p.R1299C
context: Confirmed in trans
|
34421994
Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis.
Frontiers in genetics, 2021
|
Main article | |
| DCLRE1C |
NM_001033855.3:c.632G>C
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with deletion in exons 1–3
context: Confirmed in trans
|
34420125
Self-Limited COVID-19 in a Patient with Artemis Hypomorphic SCID.
Journal of clinical immunology, 2021
|
Main article | |
| LZTR1 |
NM_006767.4:c.988A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.594‐3C>T
context: Confirmed in trans
|
34401172
Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants.
Clinical case reports, 2021
|
Main article | |
| PYGM |
NM_005609.4:c.389C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.415 C>T; c.415C>T; R139W; +1 more
context: Confirmed in trans
|
34373715
Molecular diagnosis of McArdle disease using whole-exome sequencing.
Experimental and therapeutic medicine, 2021
|
Main article | |
| IKBKB |
NM_001556.3:c.1676C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1552G>A; p.D518K
context: Confirmed in trans
|
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 | |
| TSFM |
NM_005726.6:c.161G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.919C > T; p.Gln307*
context: Confirmed in trans
|
33816677
Novel Mutation in the TSFM Gene Causes an Early-Onset Complex Chorea without Basal Ganglia Lesions.
Movement disorders clinical practice, 2021
|
Main article | |
| ACD |
NM_001082486.2:c.1213C>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.508_510del; p.(Lys170del)
context: Confirmed in trans
|
33446513
Identification and characterization of novel ACD variants: modulation of TPP1 protein level offsets the impact of germline loss-of-function variants on telomere length.
Cold Spring Harbor molecular case studies, 2021
|
Main article | |
| WDR35 |
NM_020779.4:c.308G>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1633C > T; p.(Arg545*)
context: Confirmed in trans
|
33369054
Ciliopathies: Coloring outside of the lines.
American journal of medical genetics. Part A, 2021
|
Main article | |
| PKD1 |
NM_001009944.3:c.11675G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.11876C>T; Arg3959Val; p.(Ala3959Val)
context: Confirmed in trans
|
33168999
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.
Genetics in medicine : official journal of the American College of Medical Genetics, 2021
|
Main article | |
| PKD1 |
NM_001009944.3:c.8998C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.3739A>G; p.(Met1247Val)
context: Confirmed in trans
|
33168999
Biallelic inheritance of hypomorphic PKD1 variants is highly prevalent in very early onset polycystic kidney disease.
Genetics in medicine : official journal of the American College of Medical Genetics, 2021
|
Main article | |
| FARS2 |
NM_006567.5:c.323C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.D265TfsX29; p.D62N
context: Compound heterozygous candidate
|
36531778
FARS2 (Phenylalanyl-tRNA Synthetase 2) Deficiency: A Novel Mutation Associated with EEG Phenotype of Epilepsy of Infancy with Migrating Focal Seizures (EIMFS).
Journal of pediatric neurosciences, 2021
|
Main article | |
| NDUFS3 |
NM_004551.3:c.418C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with R199W
context: Compound heterozygous candidate
|
36531773
Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder.
Journal of pediatric neurosciences, 2021
|
Main article | |
| RLBP1 |
NM_000326.5:c.361C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.677T>A; p.Met226Lys
context: Confirmed in trans
|
36247817
Retinitis Punctata Albescens and RLBP1-Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.
Ophthalmology science, 2021
|
Main article | |