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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPL
(R81C +2 more)
Single nucleotide variant
(missense variant)
Childhood hypophosphatasia
+3 more
GPathogenic/Likely pathogenic
ALPL
(A176T +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic/Likely pathogenic
ALPL
(E191K +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+8 more
GPathogenic/Likely pathogenic
ALPL
(V397I +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GUncertain significance
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