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Recognized gene
LAMA2
Normalized c.HGVS
c.101A>G, c.1270G>A, c.1301G>A, c.1319G>A, c.1363C>T and 44 more
Normalized p.HGVS
p.(Ala1045Ser), p.(Ala572Val), p.(Ala586Val), p.(Ala708Thr), p.(Arg1029Gln) and 44 more
Matching records
312
PM3-positive records
12
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 |
|---|---|---|---|---|---|---|
| LAMA2 |
NM_000426.4:c.7681G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.4840A>G; p.Asn1614Asp
context: Confirmed in trans
|
34528292
Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.
Journal of clinical laboratory analysis, 2021
|
Main article | |
| LAMA2 |
NM_000426.4:c.443G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40514726
The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.
Italian journal of pediatrics, 2025
|
Main article | |
| LAMA2 |
NM_000426.4:c.725G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.7572+1G>T; Splice-site mutation
context: Compound heterozygous candidate
|
38962616
Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns.
Cureus, 2024
|
Main article | |
| LAMA2 |
NM_000426.4:c.4717+5G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.7156-5_7157delinsT; p.R2386*
context: Confirmed in trans
|
37388928
Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients.
Frontiers in genetics, 2023
|
Main article | |
| LAMA2 |
NM_000426.4:c.1793_1795del
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Possible compound heterozygous with c.5476C>T; p.Arg1826*
context: Compound heterozygous candidate
|
37206914
Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients.
Frontiers in neurology, 2023
|
Main article | |
| LAMA2 |
NM_000426.4:c.443G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6235del; p.Thr2079Argfs*24
context: Compound heterozygous candidate
|
37206914
Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients.
Frontiers in neurology, 2023
|
Main article | |
| LAMA2 |
NM_000426.4:c.7109C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4787T>C; c.7075C>T; c.7399A>G; +3 more
context: Compound heterozygous candidate
|
36387164
Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.
Frontiers in oncology, 2022
|
Supplementary material | |
| LAMA2 |
NM_000426.4:c.443G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6235del; p.T2079Rfs*24
context: Compound heterozygous candidate
|
34281576
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.
Orphanet journal of rare diseases, 2021
|
Supplementary material | |
| LAMA2 |
NM_000426.4:c.5158G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.2462C>T; Thr821Met
context: Compound heterozygous candidate
|
33442022
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
Genetics in medicine : official journal of the American College of Medical Genetics, 2021
|
Main article | |
| LAMA2 |
NM_000426.4:c.595T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.391C > T; c.4487C > T; p.Ala496Val; +1 more
context: Compound heterozygous candidate
|
32904964
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020
|
Main article | |
| LAMA2 |
NM_000426.4:c.725G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.7572 + 1G > T
context: Compound heterozygous candidate
|
32028919
Hypoglycemia in patients with congenital muscle disease.
BMC pediatrics, 2020
|
Main article | |
| LAMA2 |
NM_000426.4:c.715C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28554332
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Genome medicine, 2017
|
Supplementary material | |
| LAMA2 |
NM_000426.4:c.8324C>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
40361203
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies.
Human genomics, 2025
|
Main article | |
| LAMA2 |
NM_000426.4:c.3778G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
33762593
Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study.
Scientific reports, 2021
|
Supplementary material | |
| LAMA2 |
NM_000426.4:c.3314T>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39522170
Structural and functional consequences of non-synonymous SNPs within the LAMA2 protein: a molecular dynamics perspective.
Journal of biomolecular structure & dynamics, 2026
|
Unknown | |
| LAMA2 |
NM_000426.4:c.3695C>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39522170
Structural and functional consequences of non-synonymous SNPs within the LAMA2 protein: a molecular dynamics perspective.
Journal of biomolecular structure & dynamics, 2026
|
Unknown | |
| LAMA2 |
NM_000426.4:c.3815C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39522170
Structural and functional consequences of non-synonymous SNPs within the LAMA2 protein: a molecular dynamics perspective.
Journal of biomolecular structure & dynamics, 2026
|
Unknown | |
| LAMA2 |
NM_000426.4:c.3922G>C
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39522170
Structural and functional consequences of non-synonymous SNPs within the LAMA2 protein: a molecular dynamics perspective.
Journal of biomolecular structure & dynamics, 2026
|
Unknown | |
| LAMA2 |
NM_000426.4:c.712G>A
|
No PM3 Evidence Identified
Low confidence
|
No PM3 candidate genotype identified |
41726576
CRPPA exon 6-9 deletion as a founder mutation in Chinese patients with dystroglycanopathy.
Pediatric investigation, 2025
|
Main article | |
| LAMA2 |
NM_000426.4:c.470C>G
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
38825010
Polymerizing laminins in development, health, and disease.
The Journal of biological chemistry, 2024
|
Main article | |