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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193249	NM_003036.4(SKI):c.216C>T (p.Pro72=)	SKI	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 532225	NM_003036.4(SKI):c.225C>T (p.His75=)	SKI	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 227947	NM_003036.4(SKI):c.312A>T (p.Val104=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GLikely benign
Select item 449711	NM_003036.4(SKI):c.1109T>C (p.Val370Ala)	SKI (V370A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 227946	NM_003036.4(SKI):c.1311C>G (p.Ala437=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GBenign/Likely benign
Select item 139115	NM_003036.4(SKI):c.1446G>A (p.Ala482=)	SKI	Single nucleotide variant (synonymous variant)	Shprintzen-Goldberg syndrome +3 more	GBenign/Likely benign

ClinVar