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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT5B
(V242G +2 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
KMT5B
(E231* +2 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 51
GPathogenic