C4225276[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 653350	NM_145207.3(AFG2A):c.229T>G (p.Ser77Ala)	AFG2A (S77A +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 1661362	NM_145207.3(AFG2A):c.288+13T>C	AFG2A	Single nucleotide variant (intron variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GLikely benign
Select item 1039046	NM_145207.3(AFG2A):c.398C>T (p.Pro133Leu)	AFG2A (P133L +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 265608	NM_145207.3(AFG2A):c.1069G>T (p.Gly357Ter)	AFG2A (G357* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 856522	NM_145207.3(AFG2A):c.1540C>T (p.Arg514Ter)	AFG2A (R513* +1 more)	Single nucleotide variant (nonsense)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GPathogenic/Likely pathogenic
Select item 475723	NM_145207.3(AFG2A):c.1785G>T (p.Val595=)	AFG2A	Single nucleotide variant (synonymous variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GBenign/Likely benign
Select item 203524	NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly)	AFG2A (D628G +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +1 more	GPathogenic/Likely pathogenic
Select item 568026	NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu)	AFG2A (K638E +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 203526	NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln)	AFG2A (R655Q +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome +2 more	GConflicting classifications of pathogenicity
Select item 847616	NM_145207.3(AFG2A):c.1978C>T (p.Pro660Ser)	AFG2A (P659S +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance
Select item 937065	NM_145207.3(AFG2A):c.2642A>T (p.Tyr881Phe)	AFG2A (Y880F +1 more)	Single nucleotide variant (missense variant)	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	GUncertain significance