C0036857[trait identifier] AND "Talkowski Laboratory, Center for Human - ClinVar

	Variation	Type (Consequence)	Condition	Classification, Review status
Select item 268043	46;XY;der(2)inv(2)(p21p22);der(5)t(5;7)(p14.3;q32);der(7)t(7;2;5)(7pter-7p22.3::7q32-7p22.3::5p14.3-5p15.1::2p22-2p21::5p15.1-5pter)dn	Complex	Setting-sun eye phenomenon +16 more	GPathogenic
Select item 268005	46;XX;t(8;14)(q21.2;q12)dn	Translocation	Hypoplasia of the frontal lobes +11 more	GLikely pathogenic
Select item 267927	46;XY;t(4;14)(p14;q11.2)dn	Translocation	Short philtrum +28 more	GUncertain significance
Select item 267905	46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn	Translocation	Posteriorly placed tongue +17 more	GLikely pathogenic
Select item 267896	46;XX;t(2;8)(q33;p21)dn	Translocation	Intellectual disability, severe +5 more	GLikely pathogenic
Select item 267859	46;XX;t(17;18)(p13;p11.2)dn	Translocation	Intellectual disability, severe +8 more	GUncertain significance
Select item 267816	46;XY;inv(5)(q13q15)dn	Inversion	Partial duplication of thumb phalanx +4 more	GLikely pathogenic

ClinVar