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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP9
(C329*)
Single nucleotide variant
(nonsense)
Metaphyseal anadysplasia 2
GPathogenic
MMP9
(P472S)
Single nucleotide variant
(missense variant)
Metaphyseal anadysplasia 2
+1 more
GUncertain significance