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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2D
(E1074*)
Single nucleotide variant
(nonsense)
Kabuki syndrome 1
GLikely pathogenic
KMT2D
(P585S)
Single nucleotide variant
(missense variant)
Kabuki syndrome 1
GUncertain significance