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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KDM6A
(R165*)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic
KDM6A
(Q1058* +5 more)
Single nucleotide variant
(nonsense +1 more)
Kabuki syndrome 2
GPathogenic
KDM6A
(T1015fs +5 more)
Deletion
(frameshift variant +1 more)
Kabuki syndrome 2
GPathogenic
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