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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ALPL
(L3P +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
GLikely pathogenic
ALPL
(S43F +1 more)
Single nucleotide variant
(missense variant +1 more)
Adult hypophosphatasia
GUncertain significance
ALPL
(R136H +2 more)
Single nucleotide variant
(missense variant)
Infantile hypophosphatasia
+5 more
GPathogenic/Likely pathogenic
ALPL
(A128T +2 more)
Single nucleotide variant
(missense variant)
Adult hypophosphatasia
+2 more
GUncertain significance
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