"Blueprint Genetics"[submitter] AND "SBDS"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3196	NM_016038.4(SBDS):c.258+2T>C	SBDS	Single nucleotide variant (splice donor variant)	SBDS-related disorder +11 more	GPathogenic/Likely pathogenic
Select item 636875	NM_016038.4(SBDS):c.61A>T (p.Lys21Ter)	SBDS (K21*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic