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Recognized gene
A4GALT, ABCA4, ACADVL, ACE, ACO2 and 44 more
Normalized c.HGVS
Not available
Normalized p.HGVS
Not available
Matching records
346
PM3-positive records
0
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 |
|---|---|---|---|---|---|---|
| SLC25A13 |
NM_014251.3:c.674C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41923674
Development of a quantitative real-time PCR-based newborn screening system for citrin deficiency using dried blood spots.
Molecular genetics and metabolism, 2026
|
Unknown | |
| PMS2 |
NM_000535.7:c.1004A>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41851261
Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.
European journal of human genetics : EJHG, 2026
|
Unknown | |
| PMS2 |
NM_000535.7:c.2036T>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41851261
Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants.
European journal of human genetics : EJHG, 2026
|
Unknown | |
| RLBP1 |
NM_000326.5:c.304G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41847810
[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 1. Molecular genetic characteristics of inherited retinal pathologies].
Vestnik oftalmologii, 2026
|
Unknown | |
| LRP5 |
NM_002335.4:c.2449C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41843941
LRP5-related primary osteoporosis: phenotypic spectrum and treatment response to zoledronic acid.
Journal of pediatric endocrinology & metabolism : JPEM, 2026
|
Unknown | |
| LRP5 |
NM_002335.4:c.4502C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41843941
LRP5-related primary osteoporosis: phenotypic spectrum and treatment response to zoledronic acid.
Journal of pediatric endocrinology & metabolism : JPEM, 2026
|
Unknown | |
| SDHA |
NM_004168.4:c.1535G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41833598
Impact of compound heterozygous SDHA variants on mitochondrial function in pediatric with neurological disease.
Mitochondrion, 2026
|
Unknown | |
| PMS2 |
NM_000535.7:c.943C>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41819754
Outcomes of multigene panel testing for hereditary cancer in two Israeli medical centers 2013-2024.
Cancer genetics, 2026
|
Unknown | |
| PLA2G6 |
NM_003560.4:c.991G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41813186
[A female case of phospholipase A2 group VI-associated neurodegeneration with childhood onset and long-term follow-up until 49 years of age].
Rinsho shinkeigaku = Clinical neurology, 2026
|
Unknown | |
| DNAJB13 |
NM_153614.4:c.106T>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41807802
Normal Fertility of Dnajb13 (exon2 KO)/(exon2 c.106T > C Mut) Compound Heterozygous Mutant Male Mice.
Reproductive sciences (Thousand Oaks, Calif.), 2026
|
Unknown | |
| LRP5 |
NM_002335.4:c.1310C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41791021
Child Neurology: Multiple Genetic Etiologies Causing Dandy-Walker Variant With Microcephaly, Epilepsy, and Global Developmental Delay.
Neurology, 2026
|
Unknown | |
| ATP7B |
NM_000053.4:c.2138A>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41790749
Clinical utility and genomic insights from whole exome and clinical exome sequencing in idiopathic liver disease.
Human molecular genetics, 2026
|
Unknown | |
| CBS |
NM_000071.3:c.862G>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41776364
Unveiling clinical and genetic landscapes of MMA and CBS: insights from whole exome sequencing in a tertiary care setting.
Pediatric research, 2026
|
Unknown | |
| KCNJ10 |
NM_002241.5:c.436C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41772895
Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.
Movement disorders : official journal of the Movement Disorder Society, 2026
|
Unknown | |
| NTRK1 |
NM_002529.4:c.1783G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41736461
Discovery of a Novel Phenyl Thiophene-3-carboxamide Derivative DZX19 as an Orally TRK Inhibitor with Potent Antitumor Effects.
Journal of medicinal chemistry, 2026
|
Unknown | |
| NTRK1 |
NM_002529.4:c.1783G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41666629
Discovery of new non-macrocyclic TRK inhibitors based on conformational flexibility and scaffold hopping to overcome clinical acquired resistance.
Bioorganic chemistry, 2026
|
Unknown | |
| HBA1 |
NM_000558.5:c.223G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41521634
Molecular and clinical characterization of -α(4.2) subtypes in Shenzhen, Southern China.
Hematology (Amsterdam, Netherlands), 2026
|
Unknown | |
| RYR1 |
NM_000540.3:c.7625G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41339169
Functional analysis of RYR1 variants in Australian and New Zealand patients at risk of susceptibility to malignant hyperthermia.
British journal of anaesthesia, 2026
|
Unknown | |
| TTN |
NM_001267550.2:c.52928G>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41270882
Genotypic and phenotypic characterization of critical pediatric cardiomyopathy: A 20-patient cohort study.
Clinica chimica acta; international journal of clinical chemistry, 2026
|
Unknown | |
| RPL3L |
NM_005061.3:c.322G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
41270882
Genotypic and phenotypic characterization of critical pediatric cardiomyopathy: A 20-patient cohort study.
Clinica chimica acta; international journal of clinical chemistry, 2026
|
Unknown | |