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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PIGV
(G107V)
Single nucleotide variant
(missense variant +3 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(H143R +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PIGV
(A151V +1 more)
Single nucleotide variant
(missense variant +2 more)
Hyperphosphatasia with intellectual disability syndrome 1
GUncertain significance
PIGV
(R270C +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
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