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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SEPSECS
Single nucleotide variant
(intron variant)
Congenital cerebellar hypoplasia
+7 more
GLikely pathogenic
TCF4
(A359fs +21 more)
Duplication
(frameshift variant)
Pitt-Hopkins syndrome
+2 more
GPathogenic