"GeneReviews"[submitter] AND "SLC12A6"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5326	NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter)	SLC12A6 (R1011* +4 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 436730	NM_001365088.1(SLC12A6):c.2436+1del	SLC12A6	Deletion (splice donor variant)	not provided +1 more	GPathogenic
Select item 136176	NM_001365088.1(SLC12A6):c.2032dup (p.Tyr678fs)	SLC12A6 (Y669fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GPathogenic
Select item 5327	NM_001365088.1(SLC12A6):c.2023C>T (p.Arg675Ter)	SLC12A6 (R675* +4 more)	Single nucleotide variant (nonsense)	Agenesis of the corpus callosum with peripheral neuropathy +1 more	GPathogenic
Select item 136175	NM_001365088.1(SLC12A6):c.1584_1585delinsG (p.Phe529fs)	SLC12A6 (F470fs +4 more)	Indel (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GPathogenic
Select item 136177	NM_001365088.1(SLC12A6):c.1478_1485del (p.Phe493fs)	SLC12A6 (F442fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GPathogenic

ClinVar