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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO19, PIGW
(R36G)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
+2 more
GConflicting classifications of pathogenicity
MYO19, PIGW
(R155I)
Single nucleotide variant
(missense variant)
Hyperphosphatasia with intellectual disability syndrome 5
GUncertain significance