ClinVar (all) for Orgtrack (Select 508802) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1727257	NM_004247.4(EFTUD2):c.1286-2del	EFTUD2	Deletion (splice acceptor variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1712513	NM_001321075.3(DLG4):c.1490del (p.Arg497fs)	DLG4 (R437fs +5 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder 62	GLikely pathogenic