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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1B
(S1056fs +2 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome 1
GPathogenic
ARID1B
(R1337* +4 more)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic