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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TCF4
(S488fs +21 more)
Microsatellite
(frameshift variant)
Pitt-Hopkins syndrome
GPathogenic
TCF4
(R578H +21 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins syndrome
GPathogenic