"PreventionGenetics, part of Exact Sciences"[submitter] AND "CSTB"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061122	NM_000100.4(CSTB):c.219C>T (p.Leu73=)	CSTB	Single nucleotide variant (synonymous variant)	CSTB-related disorder	GLikely benign
Select item 195015	NM_000100.4(CSTB):c.121G>A (p.Val41Met)	CSTB (V41M)	Single nucleotide variant (missense variant)	Progressive myoclonic epilepsy +5 more	GConflicting classifications of pathogenicity
Select item 760847	NM_000100.4(CSTB):c.120C>T (p.Ala40=)	CSTB	Single nucleotide variant (synonymous variant)	CSTB-related disorder +1 more	GLikely benign
Select item 137037	NM_000100.4(CSTB):c.67-3T>C	CSTB	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1652345	NM_000100.4(CSTB):c.42C>G (p.Ala14=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	CSTB-related disorder +1 more	GLikely benign
Select item 128858	NM_000100.4(CSTB):c.15G>T (p.Ala5=)	CSTB, LOC130066788	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign

ClinVar