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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC12A6
(R1011* +4 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SLC12A6
Deletion
(splice donor variant)
not provided
+1 more
GPathogenic
SLC12A6
(Y669fs +4 more)
Duplication
(frameshift variant)
Agenesis of the corpus callosum with peripheral neuropathy
GPathogenic
SLC12A6
(R675* +4 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
SLC12A6
(F470fs +4 more)
Indel
(frameshift variant)
Agenesis of the corpus callosum with peripheral neuropathy
GPathogenic
SLC12A6
(F442fs +4 more)
Deletion
(frameshift variant)
Agenesis of the corpus callosum with peripheral neuropathy
GPathogenic
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