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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC1A4
(S181F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
GPathogenic
SLC1A4
(N104fs +1 more)
Deletion
(frameshift variant +1 more)
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
GPathogenic