ClinVar for MedGen (Select 977265) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062110	NM_001172509.2(SATB2):c.1976TCA[1] (p.Ile660del)	LOC126806462, SATB2 (I660del)	Microsatellite (inframe_deletion)	SATB2 associated disorder	GPathogenic
Select item 2672080	NM_001172509.2(SATB2):c.1476A>T (p.Gln492His)	SATB2 (Q492H)	Single nucleotide variant (missense variant)	SATB2 associated disorder	Gnot provided
Select item 2578385	GRCh37/hg19 2q33.1(chr2:200188260-200214121)x1	SATB2	Copy number loss	SATB2 associated disorder	Gnot provided
Select item 1805643	NM_001172509.2(SATB2):c.581_584del (p.Glu194fs)	SATB2 (E194fs)	Deletion (frameshift variant)	SATB2 associated disorder	GPathogenic
Select item 1805641	NM_001172509.2(SATB2):c.728C>G (p.Ser243Ter)	SATB2 (S243*)	Single nucleotide variant (nonsense)	SATB2 associated disorder	GPathogenic
Select item 1693293	NM_001172509.2(SATB2):c.334G>A (p.Ala112Thr)	SATB2 (A112T)	Single nucleotide variant (missense variant +1 more)	SATB2 associated disorder	GUncertain significance
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 208673	NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)	SATB2 (R283*)	Single nucleotide variant (nonsense)	SATB2-related condition +4 more	GPathogenic

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