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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTBN1
(A396V +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GLikely benign
SPTBN1
(R464C +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GLikely pathogenic
SPTBN1
(W1561fs +1 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder
GPathogenic
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