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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHF6
Single nucleotide variant
(intron variant)
Borjeson-Forssman-Lehmann syndrome
GBenign
PHF6
(R319P)
Single nucleotide variant
(missense variant)
Macrocephaly
+7 more
GUncertain significance