"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978890	NM_001172509.2(SATB2):c.1762C>T (p.Gln588Ter)	LOC126806462, SATB2 (Q588*)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 978888	NM_001172509.2(SATB2):c.1727del (p.Pro576fs)	SATB2 (P576fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978891	NM_001172509.2(SATB2):c.1610_1611del (p.Asn537fs)	SATB2 (N537fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 978889	NM_001172509.2(SATB2):c.1538G>A (p.Ser513Asn)	SATB2 (S513N)	Single nucleotide variant (missense variant)	Intellectual disability	GPathogenic
Select item 662501	NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys)	SATB2 (R399C)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic/Likely pathogenic
Select item 2519	NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)	SATB2 (R239*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome +2 more	GPathogenic

ClinVar