"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1208890	NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys)	SATB2 (R522C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2578422	NM_001172509.2(SATB2):c.1174-2A>G	SATB2	Single nucleotide variant (splice acceptor 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)	SATB2 associated disorder +3 more	GPathogenic/Likely pathogenic
Select item 976026	NM_001172509.2(SATB2):c.721_722del (p.Asn241fs)	SATB2 (N241fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2519	NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)	SATB2 (R239*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 2500305	NM_001172509.2(SATB2):c.665T>C (p.Phe222Ser)	SATB2 (F222S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic

ClinVar