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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KMT5B
(E584fs +2 more)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 51
GUncertain significance
KMT5B
(G434D +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 51
GUncertain significance
KMT5B
(G434S +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 51
GUncertain significance
KMT5B
(R300W +2 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 51
GUncertain significance
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