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Recognized gene
GALNS
Normalized c.HGVS
c.1052C>T, c.1070C>T, c.1078G>A, c.1087A>G, c.1097T>C and 27 more
Normalized p.HGVS
p.(Ala102Thr), p.(Ala231Val), p.(Ala257Thr), p.(Ala322Pro), p.(Ala351Val) and 26 more
Matching records
73
PM3-positive records
17
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 |
|---|---|---|---|---|---|---|
| GALNS |
NM_000512.5:c.398A>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with R386C
context: Compound heterozygous candidate
|
40102994
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.
Italian journal of pediatrics, 2025
|
Main article | |
| GALNS |
NM_000512.5:c.947G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.374C > T
context: Compound heterozygous candidate
|
39484204
Classification of Infiltrative Heart Diseases MORAL-STAGE System.
Clinical Medicine Insights. Cardiology, 2024
|
Main article | |
| GALNS |
NM_000512.5:c.865A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.376G>T; p. Glu126Ter
context: Compound heterozygous candidate
|
39077724
Pain management challenges in a patient with mucopolysaccharidosis IVA.
Clinical case reports, 2024
|
Main article | |
| GALNS |
NM_000512.5:c.664C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.296C>T; c.29G>A; p.(Thr99Ile); +1 more
context: Compound heterozygous candidate
|
34387910
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Human mutation, 2021
|
Supplementary material | |
| GALNS |
NM_000512.5:c.909C>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
34387910
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Human mutation, 2021
|
Supplementary material | |
| GALNS |
NM_000512.5:c.964G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.611A>G; p.(Asn204Thr)
context: Compound heterozygous candidate
|
34387910
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
Human mutation, 2021
|
Main article | |
| GALNS |
NM_000512.5:c.1520G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.776G > A; c.901G > T
context: Compound heterozygous candidate
|
32183856
Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease.
Orphanet journal of rare diseases, 2020
|
Main article | |
| GALNS |
NM_000512.5:c.1513G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.647T>C; Phe216Ser
context: Compound heterozygous candidate
|
31200731
Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study.
Orphanet journal of rare diseases, 2019
|
Main article | |
| GALNS |
NM_000512.5:c.1520G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
30809705
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
European journal of pediatrics, 2019
|
Main article | |
| GALNS |
NM_000512.5:c.715G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1057T>A; c.454C>T; p.(Arg152Trp); +1 more
context: Compound heterozygous candidate
|
30118150
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Human mutation, 2018
|
Supplementary material | |
| GALNS |
NM_000512.5:c.1475C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
26147980
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.
PloS one, 2015
|
Main article | |
| GALNS |
NM_000512.5:c.676T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
26147980
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.
PloS one, 2015
|
Main article | |
| GALNS |
NM_000512.5:c.1097T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.106_111del; p.L36_L37del
context: Compound heterozygous candidate
|
25137622
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
Human mutation, 2014
|
Supplementary material | |
| GALNS |
NM_000512.5:c.448C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.29G>A; p.W10Ter
context: Compound heterozygous candidate
|
25137622
Morquio A syndrome-associated mutations: a review of alterations in the GALNS gene and a new locus-specific database.
Human mutation, 2014
|
Supplementary material | |
| GALNS |
NM_000512.5:c.1520G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.776G>A; p.Arg259Gln
context: Compound heterozygous candidate
|
24726177
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Molecular genetics and metabolism, 2014
|
Main article | |
| GALNS |
NM_000512.5:c.865A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.376G>T; p.Glu126Ter
context: Compound heterozygous candidate
|
24726177
Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations.
Molecular genetics and metabolism, 2014
|
Main article | |
| GALNS |
NM_000512.5:c.758G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.922T>C; p.C308R
context: Compound heterozygous candidate
|
23876334
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
Molecular genetics and metabolism, 2013
|
Main article | |
| GALNS |
NM_000512.5:c.758G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40531992
Discovery of a functionally selective serotonin receptor (5-HT(1A)R) agonist for the treatment of pain.
Science advances, 2025
|
Main article and supplement | |
| GALNS |
NM_000512.5:c.1078G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
40102994
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.
Italian journal of pediatrics, 2025
|
Main article | |
| GALNS |
NM_000512.5:c.1475C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
39897469
Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome).
Molecular genetics and metabolism reports, 2025
|
Main article | |