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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1B
(P387fs +4 more)
Duplication
(frameshift variant)
Coffin-Siris syndrome
GLikely pathogenic
ARID1B
Single nucleotide variant
(splice donor variant)
Coffin-Siris syndrome
GLikely pathogenic
SMARCA4
(R1443Q +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GUncertain significance
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