"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126806 - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 646453	NM_001172509.2(SATB2):c.2052G>A (p.Val684=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GLikely benign
Select item 1019234	NM_001172509.2(SATB2):c.2048C>T (p.Ala683Val)	LOC126806462, SATB2 (A683V)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2789501	NM_001172509.2(SATB2):c.2010G>A (p.Val670=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GLikely benign
Select item 702795	NM_001172509.2(SATB2):c.1935C>T (p.Ile645=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 3061240	NM_001172509.2(SATB2):c.1842del (p.Lys614fs)	LOC126806462, SATB2 (K614fs)	Deletion (frameshift variant)	SATB2-related disorder	GPathogenic
Select item 469545	NM_001172509.2(SATB2):c.1818G>T (p.Pro606=)	LOC126806462, SATB2	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 2085751	NM_001172509.2(SATB2):c.1741G>A (p.Val581Ile)	LOC126806462, SATB2 (V581I)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GUncertain significance

ClinVar