C2676739[trait identifier] AND "GeneReviews"[submitter] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 584426	NM_001172509.2(SATB2):c.2074G>T (p.Glu692Ter)	LOC126806462, SATB2 (E692*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	Gnot provided
Select item 584425	NM_001172509.2(SATB2):c.2018dup (p.His673fs)	LOC126806462, SATB2 (H673fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	Gnot provided
Select item 584424	NM_001172509.2(SATB2):c.1945dup (p.Ser649fs)	LOC126806462, SATB2 (S649fs)	Duplication (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	Gnot provided
Select item 522269	NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)	SATB2 (R459*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 280282	NM_001172509.2(SATB2):c.1286G>A (p.Arg429Gln)	SATB2 (R429Q)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GPathogenic
Select item 584423	NM_001172509.2(SATB2):c.1186G>C (p.Glu396Gln)	SATB2 (E396Q)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	Gnot provided
Select item 584422	NM_001172509.2(SATB2):c.1171C>T (p.Gln391Ter)	SATB2 (Q391*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	Gnot provided
Select item 381575	NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)	SATB2 (R389C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 584421	NM_001172509.2(SATB2):c.1142T>G (p.Val381Gly)	SATB2 (V381G)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	Gnot provided
Select item 208673	NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)	SATB2 (R283*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GPathogenic
Select item 584420	NM_001172509.2(SATB2):c.748C>T (p.Gln250Ter)	SATB2 (Q250*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	Gnot provided
Select item 2519	NM_001172509.2(SATB2):c.715C>T (p.Arg239Ter)	SATB2 (R239*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome +2 more	GPathogenic
Select item 584419	NM_001172509.2(SATB2):c.346+2T>G	SATB2	Single nucleotide variant (splice donor variant)	Chromosome 2q32-q33 deletion syndrome	Gnot provided