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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1A
(E33fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 14
GConflicting classifications of pathogenicity
ARID1A
(P887R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 14
GUncertain significance
ARID1A
(P1568S)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, autosomal dominant 14
+2 more
GConflicting classifications of pathogenicity
ARID1A
(K1828fs +1 more)
Deletion
(frameshift variant)
ARID1A-related BAFopathy
+1 more
GPathogenic
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