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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTAN1
(Y2410* +8 more)
Single nucleotide variant
(nonsense)
Intellectual disability
GUncertain significance
SPTAN1
(Q2411fs +8 more)
Deletion
(frameshift variant)
Intellectual disability
GUncertain significance