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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1B
(L1141fs +3 more)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
GLikely pathogenic
ARID1B
(Q1466fs +3 more)
Deletion
(frameshift variant)
not provided
GPathogenic