"OMIM"[submitter] AND "SATB2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2576537	NM_001172509.2(SATB2):c.2104del (p.Asp702fs)	LOC126806462, SATB2 (D702fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 422062	NM_001172509.2(SATB2):c.1696G>A (p.Glu566Lys)	SATB2 (E566K)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GPathogenic/Likely pathogenic
Select item 545530	NM_001172509.2(SATB2):c.1543G>A (p.Gly515Ser)	SATB2 (G515S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 381575	NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)	SATB2 (R389C)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2519	NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)	SATB2 (R239*)	Single nucleotide variant (nonsense)	Intellectual disability +2 more	GPathogenic
Select item 217315	NC_000002.12:g.(199364049_199364051)_(199399060_199399062)dup	SATB2	Duplication	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 218098	NM_001172509.1(SATB2):c.170_346dup	SATB2	Duplication	Chromosome 2q32-q33 deletion syndrome	GPathogenic

ClinVar