C0424731[trait identifier] AND "Talkowski Laboratory, Center for Human - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	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 267941	46;XY;inv(6)(p22q13)dn		Inversion	Hypotonia +22 more	GPathogenic
Select item 267940	45;XY;t(11;18;13;21;17)(p11.2;p11.2;q33;q11;q11)dn		Translocation	Clinodactyly +6 more	GPathogenic
Select item 267856	46;XY;t(7;15)(q21;q26)dn		Translocation	Abnormal facial shape +16 more	GLikely pathogenic
Select item 267850	46;XY;t(8;10)(q13;p13)dn		Translocation	Hypertelorism +13 more	GPathogenic

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