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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FGD1
(G794R)
Single nucleotide variant
(missense variant)
Aarskog syndrome
GUncertain significance
FGD1
(T673A)
Single nucleotide variant
(missense variant)
Aarskog syndrome
GLikely pathogenic
FGD1
(P176fs)
Deletion
(frameshift variant)
Aarskog syndrome
+2 more
GPathogenic
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