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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGD1
(C761Y)
Single nucleotide variant
(missense variant)
Aarskog syndrome
GUncertain significance
FGD1
(P176fs)
Deletion
(frameshift variant)
Aarskog syndrome
+2 more
GPathogenic