"Institute of Medical Genetics and Applied Genomics, University Hospit - ClinVar - NCBI

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Items: 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 207828	NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del)	AFG2A (T330del +1 more)	Microsatellite (inframe_deletion)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1384660	NM_145207.3(AFG2A):c.1723G>A (p.Ala575Thr)	AFG2A (A575T +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 203526	NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln)	AFG2A (R655Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1802153	NM_145207.3(AFG2A):c.2048A>G (p.Asn683Ser)	AFG2A (N682S +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 475726	NM_145207.3(AFG2A):c.2321G>A (p.Arg774His)	AFG2A (R774H +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GConflicting classifications of pathogenicity
Select item 203530	NM_145207.3(AFG2A):c.2531C>T (p.Ala844Val)	AFG2A (A844V +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GPathogenic/Likely pathogenic