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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC1A4
(L91P)
Single nucleotide variant
(missense variant +1 more)
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
+1 more
GUncertain significance
SLC1A4
(R159Q +2 more)
Single nucleotide variant
(missense variant)
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
+1 more
GConflicting classifications of pathogenicity