C2676739[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 373069	NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)	SATB2 (R399H)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome +1 more	GPathogenic
Select item 981628	NM_001172509.2(SATB2):c.1174G>A (p.Gly392Arg)	SATB2 (G392R)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526096	NM_001172509.2(SATB2):c.1166G>T (p.Arg389Leu)	SATB2 (R389L)	Single nucleotide variant (missense variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 2444158	NM_001172509.2(SATB2):c.955C>T (p.Gln319Ter)	SATB2 (Q319*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 208673	NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)	SATB2 (R283*)	Single nucleotide variant (nonsense)	SATB2 associated disorder +4 more	GPathogenic
Select item 1526219	NM_001172509.2(SATB2):c.630T>G (p.Tyr210Ter)	SATB2 (Y210*)	Single nucleotide variant (nonsense)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
Select item 1320122	NM_001172509.2(SATB2):c.150del (p.Val51fs)	SATB2 (V51fs)	Deletion (frameshift variant +1 more)	Chromosome 2q32-q33 deletion syndrome	GPathogenic

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