"Baylor Genetics"[submitter] AND "SATB2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522269	NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)	SATB2 (R459*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +4 more	GPathogenic
Select item 1032668	NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val)	SATB2 (E436V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1032667	NM_001172509.2(SATB2):c.1135C>T (p.Gln379Ter)	SATB2 (Q379*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2671963	NM_001172509.2(SATB2):c.913C>T (p.Gln305Ter)	SATB2 (Q305*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1032669	NM_001172509.2(SATB2):c.701-12A>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 2582477	NM_001172509.2(SATB2):c.115dup (p.Ser39fs)	SATB2 (S39fs)	Duplication (frameshift variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 625775	GRCh37/hg19 2q33.1(chr2:200213361-200233633)	SATB2	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic

ClinVar