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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
APRT, CDT1
+11 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
APRT, CDT1
+11 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
APRT, GALNS
+2 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC126862447
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC126862447
+4 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC126862447
Single nucleotide variant
(intron variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
LOC126862447, GALNS
(M309V +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS, LOC126862447
(A492T +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+1 more
GConflicting classifications of pathogenicity
GALNS, LOC126862447
(V488M +2 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
GALNS, LOC126862447
(N302K +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
(N302I +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
(N487S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
LOC126862447, GALNS
Deletion
(inframe_deletion)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
(P299L +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
(P299S +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS, LOC126862447
(Q298* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
LOC126862447, GALNS
(V480F +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GBenign/Likely benign
GALNS, LOC126862447
(Q291P +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
(H290N +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
(Q289* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC126862447
(Q473* +2 more)
Single nucleotide variant
(nonsense)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC126862447
(S285P +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC126862447
Single nucleotide variant
(splice acceptor variant)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
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