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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANK3
(F2153L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
GUncertain significance
ANK3
(S1994L)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability-hypotonia-spasticity-sleep disorder syndrome
+1 more
GConflicting classifications of pathogenicity