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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2D
(P4293fs)
Deletion
(frameshift variant)
Kabuki syndrome 1
GPathogenic
KMT2D
(E2081fs)
Insertion
(frameshift variant)
Kabuki syndrome 1
GPathogenic
KMT2D
(P411fs)
Duplication
(frameshift variant)
Kabuki syndrome 1
GLikely pathogenic
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