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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT2D
(C5095S)
Single nucleotide variant
(missense variant)
Rare genetic intellectual disability
GLikely pathogenic
KMT2D
(P1021S)
Single nucleotide variant
(missense variant)
Kabuki syndrome
GLikely benign