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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASTN1
(M1095L +1 more)
Single nucleotide variant
(missense variant)
Abnormal corpus callosum morphology
+1 more
GConflicting classifications of pathogenicity
ASTN1
(H924Y +1 more)
Single nucleotide variant
(missense variant)
Abnormal corpus callosum morphology
GUncertain significance
ASTN1
(G742R +1 more)
Single nucleotide variant
(missense variant)
Abnormal brain morphology
GLikely pathogenic
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