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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KDM6A
(T303I +5 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
+1 more
GConflicting classifications of pathogenicity
KDM6A
(Q414K +6 more)
Single nucleotide variant
(missense variant +1 more)
Kabuki syndrome 2
+1 more
GUncertain significance