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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GALNS
(F100del +2 more)
Microsatellite
(inframe_deletion)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GPathogenic/Likely pathogenic
GALNS
(Y240C +2 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-IV-A
GPathogenic/Likely pathogenic
GALNS
(R94H +1 more)
Single nucleotide variant
(missense variant +1 more)
Mucopolysaccharidosis, MPS-IV-A
+2 more
GConflicting classifications of pathogenicity
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