"Baylor Genetics"[submitter] AND "LOC126862097"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031609	NM_001365088.1(SLC12A6):c.2593C>A (p.Arg865Ser)	LOC126862097, SLC12A6 (R806S +4 more)	Single nucleotide variant (missense variant)	Agenesis of the corpus callosum with peripheral neuropathy	GUncertain significance
Select item 3240464	NM_001365088.1(SLC12A6):c.2555del (p.Lys852fs)	LOC126862097, SLC12A6 (K793fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678734	NM_001365088.1(SLC12A6):c.2535_2536del (p.Cys846fs)	LOC126862097, SLC12A6 (C787fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678742	NM_001365088.1(SLC12A6):c.2533dup (p.Ser845fs)	LOC126862097, SLC12A6 (S786fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 1068924	NM_001365088.1(SLC12A6):c.2509_2510insTC (p.Glu837fs)	LOC126862097, SLC12A6 (E778fs +4 more)	Insertion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678743	NM_001365088.1(SLC12A6):c.2482del (p.Gln828fs)	LOC126862097, SLC12A6 (Q769fs +4 more)	Deletion (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 3240463	NM_001365088.1(SLC12A6):c.2455dup (p.Glu819fs)	LOC126862097, SLC12A6 (E760fs +4 more)	Duplication (frameshift variant)	Agenesis of the corpus callosum with peripheral neuropathy	GLikely pathogenic
Select item 2678736	NM_001365088.1(SLC12A6):c.2444del (p.Lys815fs)	LOC126862097, SLC12A6 (K756fs +4 more)	Deletion (frameshift 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