Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
AARS1, AARS2, ABAT, ABCA3, ABCA4 and 22 more
Normalized c.HGVS
c.*1251G>A, c.*1880AT[7], c.-103C>G, c.1000C>T, c.1006G>A and 44 more
Normalized p.HGVS
p.(=), p.(Ala397Val), p.(Ala499Ser), p.(Ala631Thr), p.(Ala93Thr) and 39 more
Matching records
1451
PM3-positive records
30
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
|
Confirmed in trans with c.2080-11930G > T; deep intronic VUS
context: Confirmed in trans
|
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 | |
| ZNF423 |
NM_001379286.1:c.2762C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
32925911
ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities.
PLoS genetics, 2020
|
Main article | |
| SLC24A1 |
NM_004727.3:c.76C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
31170158
Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.
PLoS genetics, 2019
|
Supplementary material | |
| 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 | |
| MEGF8 |
NM_001271938.2:c.3658C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with V/M
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 | |
| ALPK3 |
NM_020778.5:c.4939A>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with Q/E
context: Compound heterozygous candidate
|
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
High confidence
|
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 | |
| MSH6 |
NM_000179.3:c.2008G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with deletion exon 1+2
context: Compound heterozygous candidate
|
28531214
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS genetics, 2017
|
Supplementary material | |
| MSH6 |
NM_000179.3:c.2117T>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with deletion exon 1+2
context: Compound heterozygous candidate
|
28531214
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
PLoS genetics, 2017
|
Supplementary material | |
| 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
High confidence
|
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
High confidence
|
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 | |