GLEAM-DB

Search GLEAM-DB / CoGenEx-PM3

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Input query
Recognized gene
ADA2, ALG2, ALPL, ASNS, ATM and 22 more
Normalized c.HGVS
c.1000A>G, c.109C>A, c.109C>G, c.110G>T, c.1118A>T and 45 more
Normalized p.HGVS
p.(Ala38Gly), p.(Arg1076Ser), p.(Arg10Gly), p.(Arg10Trp), p.(Arg118Ser) and 45 more
Matching records
10430
PM3-positive records
372

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.

Download current query results as TSV
Gene Variant Evidence PM3 context Publication Reviewed source Actions
MSTO1 NM_018116.4:c.571C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.1259delG; p.G420Vfs*2; p.Gly420ValfsTer2
context: Confirmed in trans
 36468072
Indentification of novel MSTO1 compound heterozygous mutations in a Chinese family with recessive cerebellar atrophy and ataxia.
Frontiers in neurology, 2022
 Main article
Open
POLR3A NM_007055.4:c.3718G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.3342C > T; p.Ser1114=
context: Confirmed in trans
 36385762
A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing.
Frontiers in molecular neuroscience, 2022
 Main article
Open
CWF19L1 NM_018294.6:c.1552GAG[1] Phase-confirmed PM3 evidence
Not assessed
Confirmed in trans with c.1070G > T; p.Gly357Val
context: Confirmed in trans
 36357319
Heterozygous pathogenic variants in CWF19L1 in a Chinese family with spinocerebellar ataxia, autosomal recessive 17.
Journal of clinical laboratory analysis, 2022
 Main article
Open
PAH NM_000277.3:c.158G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.728G > A
context: Confirmed in trans
 36333673
Mild hyperphenylalaninemia (hpa) presenting as orthostatic tremor: a case report.
BMC neurology, 2022
 Main article
Open
RPL3L NM_005061.3:c.151G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.691 G > T; p.V231 F; p.V231F
context: Confirmed in trans
 36291431
Compound Heterozygous Missense Variants in RPL3L Genes Associated with Severe Forms of Dilated Cardiomyopathy: A Case Report and Literature Review.
Children (Basel, Switzerland), 2022
 Main article
Open
GAA NM_000152.5:c.1123C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.−32-13T >G; c.−32-13T>G
context: Confirmed in trans
 36246652
Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.
Frontiers in genetics, 2022
 Main article
Open
CYP1B1 NM_000104.4:c.1103G>A Phase-confirmed PM3 evidence
Needs review
Homozygous for query variant
context: Confirmed in trans
 36239105
Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy.
Genomics & informatics, 2022
 Main article
Open
RYR1 NM_000540.3:c.12572G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.2682G > C; p.Ile860_Pro894del
context: Confirmed in trans
 36131268
Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus.
BMC medical genomics, 2022
 Main article
Open
STRC NM_153700.2:c.2494C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.4903G>T; c.4917_4918delinsCT; c.5125A>G; +3 more
context: Confirmed in trans
 36086952
Long-read sequencing for molecular diagnostics in constitutional genetic disorders.
Human mutation, 2022
 Main article
Open
RPGRIP1L NM_015272.5:c.3706C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with IVS6+1G > A; c.776 + 1G > A; RPGRIP1L-∆Ex6; +1 more
context: Confirmed in trans
 36061204
Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome.
Frontiers in genetics, 2022
 Main article
Open
POLR3B NM_018082.6:c.1615G>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.165-167del; p.Ile55_Lys56delinsMet
context: Confirmed in trans
 36042647
Case report: Biallelic variants in POLR3B gene lead to 4H leukodystrophy from the study of brother and sister.
Medicine, 2022
 Main article
Open
COL7A1 NM_000094.4:c.8054G>C Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.3G>T; p.Met1?
context: Confirmed in trans
 35967298
Case report: bullous pemphigoid development underlies dystrophic epidermolysis bullosa disease worsening.
Frontiers in immunology, 2022
 Main article
Open
PLA2G6 NM_003560.4:c.116G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.967G>A; p.Val323Met
context: Confirmed in trans
 35911906
Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration.
Frontiers in neurology, 2022
 Main article
Open
DRC1 NM_145038.5:c.1622A>G Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with c.T470G; L157R; p.L157R
context: Confirmed in trans
 35872895
A Phenotype and Genotype Case Report of a Neonate With Congenital Bilateral Coronary Artery Fistulas and Multiple Collateral Arteries.
Frontiers in cardiovascular medicine, 2022
 Main article
Open
ABCA4 NM_000350.3:c.2267C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.157G>A; p.(Glu53Lys)
context: Confirmed in trans
 35806387
Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment.
International journal of molecular sciences, 2022
 Main article
Open
PKD1 NM_001009944.3:c.776G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.4369_4370delTC; p.Ala1458fs
context: Confirmed in trans
 35778421
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.
NPJ genomic medicine, 2022
 Main article
Open
B3GALT6 NM_080605.4:c.883C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.510_517del; L170fs*268; p.L170fs*268; +1 more
context: Confirmed in trans
 35734427
Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.
Frontiers in genetics, 2022
 Main article
Open
DNAH9 NM_001372.4:c.6431G>A Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.12835 G > A; p.G4279S
context: Confirmed in trans
 35729109
Dnah9 mutant mice and organoid models recapitulate the clinical features of patients with PCD and provide an excellent platform for drug screening.
Cell death & disease, 2022
 Main article
Open
DYSF NM_001130987.2:c.3851C>T Phase-confirmed PM3 evidence
High confidence
Confirmed in trans with c.5979dup; p.Glu1994ArgX3; frame shift
context: Confirmed in trans
 35725460
Dysferlinopathy misdiagnosed with juvenile polymyositis in the pre-symptomatic stage of hyperCKemia: a case report and literature review.
BMC medical genomics, 2022
 Main article
Open
CYP4V2 NM_207352.4:c.1355G>A Phase-confirmed PM3 evidence
Needs review
Confirmed in trans with c.C958T; p.R320X
context: Confirmed in trans
 35386112
Identification of a novel compound heterozygous CYP4V2 variant in a patient with autosomal recessive retinitis pigmentosa.
Biomedical reports, 2022
 Main article
Open