"Counsyl"[submitter] AND "LOC129390683"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 370396	NM_001365088.1(SLC12A6):c.655C>T (p.Gln219Ter)	LOC129390683, SLC12A6 (Q168* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 370961	NM_001365088.1(SLC12A6):c.630G>A (p.Trp210Ter)	LOC129390683, SLC12A6 (W159* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic