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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPL
(A176T +2 more)
Single nucleotide variant
(missense variant)
Childhood hypophosphatasia
+6 more
GPathogenic/Likely pathogenic
ALPL
(G249V +2 more)
Single nucleotide variant
(missense variant)
ALPL-related disorder
+4 more
GPathogenic