"Daryl Scott Lab, Baylor College of Medicine"[submitter] AND "EFTUD2"[ - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1702966	NM_004247.4(EFTUD2):c.2199G>A (p.Trp733Ter)	EFTUD2 (W698* +2 more)	Single nucleotide variant (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome +1 more	GPathogenic
Select item 2498220	NM_004247.4(EFTUD2):c.593dup (p.Tyr198Ter)	EFTUD2 (Y163* +2 more)	Duplication (nonsense)	Mandibulofacial dysostosis-microcephaly syndrome	GPathogenic