C2676739[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666577	NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs)	SATB2 (A407fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GLikely pathogenic
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/Likely pathogenic
Select item 1308668	NM_001172509.2(SATB2):c.1153del (p.Val385fs)	SATB2 (V385fs)	Deletion (frameshift variant)	Chromosome 2q32-q33 deletion syndrome	GPathogenic

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