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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1B
(A389G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1B
(A424V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARID1B
(R898* +4 more)
Single nucleotide variant
(nonsense)
ARID1B-related BAFopathy
+2 more
GPathogenic
ARID1B
(Y550fs +3 more)
Indel
(frameshift variant)
Coffin-Siris syndrome 1
+1 more
GPathogenic
ARID1B
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
ARID1B
(Y765* +3 more)
Single nucleotide variant
(nonsense)
Coffin-Siris syndrome 1
+1 more
GPathogenic
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