Search GLEAM-DB / CoGenEx-PM3
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Recognized gene
AARS1, AARS2, AASS, ABAT
Normalized c.HGVS
c.-182G>A, c.-207=, c.1003G>A, c.1004G>A, c.102C>G and 44 more
Normalized p.HGVS
p.(=), p.(Ala335Thr), p.(Ala614Pro), p.(Ala614Ser), p.(Arg194Gln) and 28 more
Matching records
13973
PM3-positive records
82
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.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 | |
| BBS12 |
NM_152618.3:c.1156C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.56T>G; p.Leu19Arg
context: Confirmed in trans
|
29633607
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.
Cell journal, 2018
|
Main article | |
| CDAN1 |
NM_138477.4:c.1003C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.2174G>A; p.Arg725Gln
context: Confirmed in trans
|
29599085
Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.
Blood cells, molecules & diseases, 2018
|
Main article | |
| POLR3A |
NM_007055.4:c.1802T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.4072G > A; c.4072G>A; G1358R; +2 more
context: Confirmed in trans
|
41634725
Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches.
Cell communication and signaling : CCS, 2026
|
Main article | |
| PAX7 |
NM_001135254.2:c.335C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.1328G>A; C443Y; Cys443Tyr
context: Confirmed in trans
|
41611663
Biallelic PAX7 variants cause a novel Satellite Cell-opathy with progressive muscle involvement resembling facioscapulohumeral muscular dystrophy.
Cell death & disease, 2026
|
Main article | |
| DNAH5 |
NM_001369.3:c.11632G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
40558543
Molecular Insights into Outer Dynein Arm Defects in Primary Ciliary Dyskinesia: Involvement of ZMYND10 and GRP78.
Cells, 2025
|
Supplementary material | |
| NEK8 |
NM_178170.3:c.1246G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
40189576
NEK8, a NIMA-family protein kinase at the core of the ciliary INV complex.
Cell communication and signaling : CCS, 2025
|
Main article | |
| NEK8 |
NM_178170.3:c.1804C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.Thr87Ala
context: Compound heterozygous candidate
|
40189576
NEK8, a NIMA-family protein kinase at the core of the ciliary INV complex.
Cell communication and signaling : CCS, 2025
|
Main article | |
| IFT140 |
NM_014714.4:c.1021G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
39880085
Ciliopathy-Associated Missense Mutations in IFT140 are Tolerated by the Inherent Resilience of the IFT Machinery.
Molecular & cellular proteomics : MCP, 2025
|
Main article | |
| NAXD |
NM_001242882.2:c.308C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
39789421
Failure to repair damaged NAD(P)H blocks de novo serine synthesis in human cells.
Cellular & molecular biology letters, 2025
|
Main article | |
| CTSF |
NM_003793.4:c.1243G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38891048
Unveiling the Roles of Cysteine Proteinases F and W: From Structure to Pathological Implications and Therapeutic Targets.
Cells, 2024
|
Main article | |
| CAPN3 |
NM_000070.3:c.526G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2458T > C; Tyr820His; p.Tyr820His
context: Compound heterozygous candidate
|
38391941
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
Cells, 2024
|
Main article | |
| DNAH1 |
NM_015512.5:c.2995C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.7633A>G; p.(Ile2545Val)
context: Compound heterozygous candidate
|
37998386
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype.
Cells, 2023
|
Main article | |
| DNAH1 |
NM_015512.5:c.7633A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2995C>T; p.(Arg999Cys)
context: Compound heterozygous candidate
|
37998386
Ciliary Ultrastructure Assessed by Transmission Electron Microscopy in Adults with Bronchiectasis and Suspected Primary Ciliary Dyskinesia but Inconclusive Genotype.
Cells, 2023
|
Main article | |
| FASLG |
NM_000639.3:c.466A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
37838774
Characterizing the regulatory Fas (CD95) epitope critical for agonist antibody targeting and CAR-T bystander function in ovarian cancer.
Cell death and differentiation, 2023
|
Main article | |
| TRIM32 |
NM_012210.4:c.1855C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37626915
Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?
Cells, 2023
|
Main article | |
| TRIM32 |
NM_012210.4:c.650A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with 1701_1703del; F568del
context: Compound heterozygous candidate
|
37626915
Tripartite Motif-Containing Protein 32 (TRIM32): What Does It Do for Skeletal Muscle?
Cells, 2023
|
Main article | |
| CDH23 |
NM_022124.6:c.4825G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
37492102
The genetics of autism spectrum disorder in an East African familial cohort.
Cell genomics, 2023
|
Supplementary material | |
| MAT1A |
NM_000429.3:c.242G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.188G>T; c.547C>G; G63V; +1 more
context: Compound heterozygous candidate
|
36704196
Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China.
Frontiers in cell and developmental biology, 2023
|
Main article | |
| MAT1A |
NM_000429.3:c.580G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.895C>T; p. R299C
context: Compound heterozygous candidate
|
36704196
Long-term prognosis of 35 patients with methionine adenosyltransferase deficiency based on newborn screening in China.
Frontiers in cell and developmental biology, 2023
|
Main article | |