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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1B
(Q284* +1 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
Gnot provided
ARID1B
(N503fs)
Deletion
(frameshift variant)
Coffin-Siris syndrome 1
Gnot provided