C4225276[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031190	NM_145207.3(AFG2A):c.164-4A>G	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GConflicting classifications of pathogenicity
Select item 575117	NM_145207.3(AFG2A):c.778A>G (p.Ile260Val)	AFG2A (I260V +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1031659	NM_145207.3(AFG2A):c.847C>G (p.Leu283Val)	AFG2A (L283V +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1031189	NM_145207.3(AFG2A):c.1039C>A (p.Gln347Lys)	AFG2A (Q346K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 475716	NM_145207.3(AFG2A):c.1154C>T (p.Pro385Leu)	AFG2A (P385L +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1361867	NM_145207.3(AFG2A):c.1946A>G (p.His649Arg)	AFG2A (H648R +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1031191	NM_145207.3(AFG2A):c.1967T>C (p.Met656Thr)	AFG2A (M656T +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1031192	NM_145207.3(AFG2A):c.2306del (p.Leu769fs)	AFG2A (L768fs +1 more)	Deletion (frameshift variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic