"OMIM"[submitter] AND "SEMA6B"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 872934	NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)	SEMA6B (G664fs)	Deletion (frameshift variant)	Epilepsy, progressive myoclonic, 11 +1 more	GPathogenic/Likely pathogenic
Select item 872933	NM_032108.4(SEMA6B):c.1976_1982del (p.Ala659fs)	SEMA6B (A659fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 872932	NM_032108.4(SEMA6B):c.1950_1969dup (p.Arg657fs)	SEMA6B (R657fs)	Duplication (frameshift variant)	Epilepsy, progressive myoclonic, 11	GPathogenic

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