"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SATB2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1352856	NM_001172509.2(SATB2):c.1852C>T (p.Arg618Cys)	LOC126806462, SATB2 (R618C)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1546772	NM_001172509.2(SATB2):c.1740+12C>T	SATB2	Single nucleotide variant (intron variant)	Chromosome 2q32-q33 deletion syndrome	GLikely benign
Select item 522269	NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)	SATB2 (R459*)	Single nucleotide variant (nonsense)	Isolated cleft palate +4 more	GPathogenic
Select item 280687	NM_001172509.2(SATB2):c.1285C>T (p.Arg429Ter)	SATB2 (R429*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1205443	NM_001172509.2(SATB2):c.787T>C (p.Ser263Pro)	SATB2 (S263P)	Single nucleotide variant (missense variant)	SATB2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1485027	NM_001172509.2(SATB2):c.770A>G (p.Asn257Ser)	SATB2 (N257S)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GUncertain significance
Select item 1380221	NM_001172509.2(SATB2):c.424A>G (p.Met142Val)	SATB2 (M142V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GConflicting classifications of pathogenicity

ClinVar