Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
AARS1, AARS2, AASS, ABAT, ABCA3 and 2 more
Normalized c.HGVS
c.*1531G>A, c.-182G>A, c.-206_-205dup, c.-247T>C, c.-76G>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala200Thr), p.(Ala229Val), p.(Ala254Thr), p.(Ala286Val) and 33 more
Matching records
10497
PM3-positive records
497
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 |
|---|---|---|---|---|---|---|
| POR |
NM_001395413.1:c.1600G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.262G>A; G88S; p.Gly88Ser
context: Confirmed in trans
|
36518257
Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Frontiers in endocrinology, 2022
|
Main article | |
| 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 | |
| SAMHD1 |
NM_015474.4:c.464A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.G724T; p.Glu242Ter
context: Confirmed in trans
|
36405817
Aicardi-Goutières syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test.
Frontiers in pediatrics, 2022
|
Main article | |
| 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 | |
| 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 | |
| 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 | |
| ARSA |
NM_000487.6:c.514G>A
|
Phase-confirmed PM3 evidence
Needs review
|
Confirmed in trans with c.[185_186dupCA]; p.(Asp63GlnfsTer18); frameshift mutation
context: Confirmed in trans
|
36324388
Case report: A compound heterozygous mutations in ARSA associated with adult-onset metachromatic leukodystrophy.
Frontiers in neurology, 2022
|
Main article | |
| 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 | |
| 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 | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36239105
Whole-exome sequencing analysis in a case of primary congenital glaucoma due to the partial uniparental isodisomy.
Genomics & informatics, 2022
|
Main article | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| 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 | |
| DRC1 |
NM_145038.5:c.1622A>G
|
Phase-confirmed PM3 evidence
High confidence
|
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 | |
| 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 | |
| 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 | |
| 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 | |