"Revvity Omics, Revvity"[submitter] AND "AFG2A"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1047007	NM_145207.3(AFG2A):c.97C>T (p.Pro33Ser)	AFG2A (P33S)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2436276	NM_145207.3(AFG2A):c.288+47T>C	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 488607	NM_145207.3(AFG2A):c.394C>T (p.Gln132Ter)	AFG2A (Q132* +1 more)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GPathogenic
Select item 207803	NM_145207.3(AFG2A):c.1714+1G>A	AFG2A	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 1479343	NM_145207.3(AFG2A):c.1910T>A (p.Leu637Gln)	AFG2A (L636Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 2690061	NM_145207.3(AFG2A):c.1996C>T (p.Leu666Phe)	AFG2A (L665F +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 971669	NM_145207.3(AFG2A):c.2140C>T (p.Arg714Ter)	AFG2A (R714* +1 more)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2436277	NM_145207.3(AFG2A):c.2159C>T (p.Ala720Val)	AFG2A (A719V +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance