Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
AIMP2, ALMS1, AP3D1, ASPM, ATM and 32 more
Normalized c.HGVS
c.*1025A>G, c.-3G>A, c.108T>G, c.11585C>G, c.1198G>C and 45 more
Normalized p.HGVS
p.(=), p.(Ala133Val), p.(Ala160Pro), p.(Ala160Thr), p.(Ala587Glu) and 42 more
Matching records
1451
PM3-positive records
21
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 |
|---|---|---|---|---|---|---|
| DNAH9 |
NM_001372.4:c.6431G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2968; R/C; R990C
context: Confirmed in trans
|
29738522
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
PLoS genetics, 2018
|
Supplementary material | |
| OCA2 |
NM_000275.3:c.1048G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40996958
From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation.
PLoS genetics, 2025
|
Main article | |
| PSAT1 |
NM_058179.4:c.181C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Ala99Val
context: Compound heterozygous candidate
|
37812589
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
PLoS genetics, 2023
|
Main article | |
| PSAT1 |
NM_058179.4:c.43G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
37812589
Constructing and interpreting a large-scale variant effect map for an ultrarare disease gene: Comprehensive prediction of the functional impact of PSAT1 genotypes.
PLoS genetics, 2023
|
Main article | |
| ADD3 |
NM_016824.5:c.995A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.1588G>A; c.86A>G; p.N29S; +1 more
context: Confirmed in trans
|
29768408
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.
PLoS genetics, 2018
|
Main article | |
| CEP152 |
NM_001194998.2:c.3085A>G
|
Phase-unconfirmed biallelic evidence
Low confidence
|
Confirmed in trans with c.3313; L/V
context: Confirmed in trans
|
29738522
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
PLoS genetics, 2018
|
Supplementary material | |
| LAMB1 |
NM_002291.3:c.2545C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.1168.0; R/G
context: Confirmed in trans
|
29738522
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
PLoS genetics, 2018
|
Supplementary material | |
| AGRN |
NM_198576.4:c.2987C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with R/C
context: Confirmed in trans
|
29738522
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
PLoS genetics, 2018
|
Supplementary material | |
| USH2A |
NM_206933.4:c.5318T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with R/C
context: Confirmed in trans
|
29738522
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
PLoS genetics, 2018
|
Supplementary material | |
| LIG4 |
NM_206937.2:c.1607G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
29738522
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
PLoS genetics, 2018
|
Supplementary material | |
| CYP1B1 |
NM_000104.4:c.1103G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with A287Pfs6; truncation
context: Compound heterozygous candidate
|
29522511
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
PLoS genetics, 2018
|
Main article | |
| MSH6 |
NM_000179.3:c.2008G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with second, known pathogenic mutation in one of the DNA MMR genes
context: Compound heterozygous candidate
|
28531214
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS genetics, 2017
|
Main article | |
| SLC25A46 |
NM_138773.4:c.746G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.165_166insC; p.His56fs*94
context: Compound heterozygous candidate
|
28376083
Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health.
PLoS genetics, 2017
|
Main article | |
| NDUFAF1 |
NM_016013.4:c.249T>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
27058611
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
PLoS genetics, 2016
|
Supplementary material | |
| GMPPB |
NM_021971.4:c.869C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.C376G; p.H126D
context: Compound heterozygous candidate
|
27058611
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
PLoS genetics, 2016
|
Supplementary material | |
| NDUFS7 |
NM_024407.5:c.613C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
27058611
De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.
PLoS genetics, 2016
|
Supplementary material | |
| NEK8 |
NM_178170.3:c.1246G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.618G>A; p.Val163-Ala206del; Splicing; +1 more
context: Confirmed in trans
|
26967905
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
PLoS genetics, 2016
|
Main article | |
| NEK8 |
NM_178170.3:c.1804C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.259 A>G; c.259A>G; p.Thr87Ala
context: Confirmed in trans
|
26967905
Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.
PLoS genetics, 2016
|
Main article | |
| DNAH6 |
NM_001370.2:c.9874C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
26918822
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.
PLoS genetics, 2016
|
Main article | |
| GTPBP3 |
NM_032620.4:c.8G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.923-947del; p.E309fs
context: Compound heterozygous candidate
|
26741492
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PLoS genetics, 2016
|
Main article | |