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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALNS, LOC126862447
+4 more
Deletion
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
Single nucleotide variant
(splice donor variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
(D40G)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(D40N)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS, LOC130059762
+1 more
(D39Y)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
Microsatellite
(inframe_deletion +1 more)
Morquio syndrome
+2 more
GConflicting classifications of pathogenicity
GALNS, LOC130059762
+1 more
(L36P)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(L36R)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS, LOC130059762
+1 more
(N32T)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GConflicting classifications of pathogenicity
GALNS, LOC130059762
+1 more
(N32D)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(Q29*)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
(A27fs)
Duplication
(frameshift variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic/Likely pathogenic
GALNS, LOC130059762
+1 more
(G23R)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
TRAPPC2L, GALNS
+1 more
(V16E)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(L15M)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(Q12*)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS, LOC130059762
+1 more
(W10*)
Single nucleotide variant
(nonsense +1 more)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic
GALNS, LOC130059762
+1 more
Indel
(inframe_deletion +2 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(M1I)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
GALNS, LOC130059762
+1 more
(M1V)
Single nucleotide variant
(missense variant +2 more)
Mucopolysaccharidosis, MPS-IV-A
GLikely pathogenic
GALNS, LOC130059762
+1 more
Single nucleotide variant
(5 prime UTR variant)
Mucopolysaccharidosis, MPS-IV-A
GUncertain significance
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