ClinVar for MedGen (Select 154380) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 995805	NM_001330588.2(TPP2):c.2394-550_2952+659del	TPP2	Deletion (splice acceptor variant +1 more)	Immunodeficiency 78 with autoimmunity and developmental delay +7 more	GPathogenic
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