C1864652[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812586	NM_004247.4(EFTUD2):c.1742del (p.Lys581fs)	EFTUD2 (K546fs +2 more)	Deletion (frameshift variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic
Select item 1678533	NM_004247.4(EFTUD2):c.1649T>A (p.Val550Asp)	EFTUD2 (V515D +2 more)	Single nucleotide variant (missense variant)	Mandibulofacial dysostosis-microcephaly syndrome	GLikely pathogenic