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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KANSL1
(T401K +9 more)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GLikely pathogenic
KANSL1
(L332fs)
Duplication
(frameshift variant +1 more)
Koolen-de Vries syndrome
GLikely pathogenic