"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 235287	NM_003919.3(SGCE):c.1253+812G>A	CASD1, SGCE (S432N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 487363	NM_003919.3(SGCE):c.1253+811A>C	CASD1, SGCE (S432R)	Single nucleotide variant (missense variant +1 more)	Myoclonic dystonia 11	GBenign
Select item 198162	NM_003919.3(SGCE):c.771_772del (p.Thr257_Cys258insTer)	CASD1, SGCE	Deletion (frameshift variant)	not provided +1 more	GPathogenic

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