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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2D
(A4599fs)
Deletion
(frameshift variant)
Kabuki syndrome 1
GPathogenic
KMT2D
(K1466fs)
Duplication
(frameshift variant)
Kabuki syndrome
+1 more
GPathogenic/Likely pathogenic