"GeneReviews"[submitter] AND "LOC130066788"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 55961	NM_000100.4(CSTB):c.66G>A (p.Gln22=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Unverricht-Lundborg syndrome	GLikely pathogenic
Select item 8397	NM_000100.4(CSTB):c.10G>C (p.Gly4Arg)	CSTB, LOC130066788 (G4R)	Single nucleotide variant (missense variant)	Unverricht-Lundborg syndrome	GPathogenic
Select item 55956	NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[30_125]	CSTB, LOC109029533 +1 more	Microsatellite	Unverricht-Lundborg syndrome	GPathogenic

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