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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NSD2
(D726fs)
Deletion
(frameshift variant)
Rauch-Steindl syndrome
GLikely pathogenic
NSD2
(E1306D)
Single nucleotide variant
(missense variant)
Rauch-Steindl syndrome
GUncertain significance