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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA13
(L837fs)
Deletion
(frameshift variant)
Intellectual disability without epilepsy
GLikely pathogenic
ABCA13
(R4022*)
Single nucleotide variant
(nonsense)
Intellectual disability without epilepsy
GLikely pathogenic