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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTBN1
(F209L +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance
SPTBN1
(R817L +1 more)
Single nucleotide variant
(missense variant)
Developmental delay, impaired speech, and behavioral abnormalities
GUncertain significance