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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KANSL1
(R474C)
Single nucleotide variant
(missense variant)
Koolen-de Vries syndrome
GPathogenic
KANSL1
(D171fs)
Duplication
(frameshift variant)
Koolen-de Vries syndrome
GPathogenic