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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PGAP3
Single nucleotide variant
(3 prime UTR variant)
Hyperphosphatasia with intellectual disability syndrome 4
GUncertain significance
PGAP3
(H284Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Hyperphosphatasia with intellectual disability syndrome 4
GPathogenic/Likely pathogenic