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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNR
(R442H +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
+1 more
GUncertain significance
TNR
(F423L +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
GUncertain significance