Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
AARS1, AARS2, ABCA3, ABCA4, ABCB4 and 3 more
Normalized c.HGVS
c.*12C>G, c.1009T>C, c.1049C>T, c.1132G>A, c.1171C>T and 45 more
Normalized p.HGVS
p.(=), p.(Ala1326Gly), p.(Ala2147Thr), p.(Ala264Val), p.(Ala286Val) and 35 more
Matching records
4258
PM3-positive records
173
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 |
|---|---|---|---|---|---|---|
| PLG |
NM_000301.5:c.2134G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.112 A>G; p.Lys38Glu
context: Confirmed in trans
|
27976734
The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease.
Scientific reports, 2016
|
Main article | |
| EPG5 |
NM_020964.3:c.5057G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41629504
Genetic and epidemiological patterns of primary immunodeficiency diseases in Eastern Iranian patients.
Scientific reports, 2026
|
Main article | |
| EPG5 |
NM_020964.3:c.5714G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41629504
Genetic and epidemiological patterns of primary immunodeficiency diseases in Eastern Iranian patients.
Scientific reports, 2026
|
Main article | |
| PAH |
NM_000277.3:c.158G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.728G>A; p.R243Q
context: Compound heterozygous candidate
|
41413260
Newborn screening for inherited metabolic disorders in central China: a retrospective study of 153,956 infants using non-derivatized tandem mass spectrometry.
Scientific reports, 2025
|
Main article | |
| SAMHD1 |
NM_015474.4:c.676C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1608+2T>C; Splice site mutation
context: Compound heterozygous candidate
|
41387995
Increased plasma fibronectin mirrors intimal phenotypic switching of vascular smooth muscle cells in moyamoya arteriopathy.
Scientific reports, 2025
|
Main article | |
| SAMHD1 |
NM_015474.4:c.676C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1608+2T>C; Splice site mutation
context: Compound heterozygous candidate
|
41387995
Increased plasma fibronectin mirrors intimal phenotypic switching of vascular smooth muscle cells in moyamoya arteriopathy.
Scientific reports, 2025
|
Main article | |
| ABCB4 |
NM_000443.4:c.3230C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41274965
ABCB4 disease-causing variants S242R, S346I, T437I and T1077M significantly impair its function and display differential sensitivity to potentiators.
Scientific reports, 2025
|
Main article | |
| SLC26A2 |
NM_000112.4:c.1011TGT[5]
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Homozygous for query variant
context: Homozygous evidence
|
41162535
Clinical and molecular characterization of chondrodysplasias in a cohort of Egyptian patients.
Scientific reports, 2025
|
Main article | |
| MYO15A |
NM_016239.4:c.6728C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5603G > A; p.Arg1868His
context: Compound heterozygous candidate
|
40998904
Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand.
Scientific reports, 2025
|
Main article | |
| IVD |
NM_002225.5:c.490A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1208 A > G; p.Y403C
context: Compound heterozygous candidate
|
40835664
Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.
Scientific reports, 2025
|
Main article | |
| ACAD8 |
NM_014384.3:c.235C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1000 C > T; p.R334C
context: Compound heterozygous candidate
|
40835664
Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.
Scientific reports, 2025
|
Main article | |
| MCCC1 |
NM_020166.5:c.1894C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.657_658insAT; p.S220Ifs*10
context: Compound heterozygous candidate
|
40835664
Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.
Scientific reports, 2025
|
Main article | |
| MCCC2 |
NM_022132.5:c.914A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.351_353delTGG; p.G118del
context: Compound heterozygous candidate
|
40835664
Large-scale newborn screening for organic acidemias in Quanzhou, China: a 10-year retrospective observational study.
Scientific reports, 2025
|
Main article | |
| TULP1 |
NM_003322.6:c.499+5G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.901C>T; p.(Gln301*)
context: Compound heterozygous candidate
|
40610573
Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.
Scientific reports, 2025
|
Main article | |
| ATM |
NM_000051.4:c.8269G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4611+9_4611del; c.8520_8524del; c.9038T>A; +2 more
context: Compound heterozygous candidate
|
40596117
Mutational and low-coverage whole genome sequencing identifies actionable DNA repair alterations in prostate cancer plasma DNA.
Scientific reports, 2025
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.2653A>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
40442269
Genetic landscape of Romanian children with inborn errors of immunity via gene panels, exome, and genome sequencing.
Scientific reports, 2025
|
Main article | |
| MMACHC |
NM_015506.3:c.316G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40355523
Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.
Scientific reports, 2025
|
Main article | |
| MMAB |
NM_052845.4:c.158C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40355523
Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.
Scientific reports, 2025
|
Main article | |
| PDE6B |
NM_000283.4:c.694G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2193+5G>A; splicing
context: Compound heterozygous candidate
|
40175531
Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.
Scientific reports, 2025
|
Main article | |
| PYGL |
NM_002863.5:c.2017G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39567597
Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.
Scientific reports, 2024
|
Main article | |