"Bioinformatics Unit, Institut Pasteur de Montevideo"[submitter] AND " - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1679513	NM_145207.3(AFG2A):c.2004del (p.Pro669fs)	AFG2A (P668fs +1 more)	Deletion (frameshift variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic
Select item 1679511	NM_145207.3(AFG2A):c.2296G>A (p.Val766Met)	AFG2A (V765M +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely pathogenic