"Counsyl"[submitter] AND "LOC126862097"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 370994	NM_001365088.1(SLC12A6):c.2632+1G>A	SLC12A6, LOC126862097	Single nucleotide variant (splice donor variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 370235	NM_001365088.1(SLC12A6):c.2437-2A>G	LOC126862097, SLC12A6	Single nucleotide variant (splice acceptor variant)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GLikely pathogenic