Related gene-specific medical variations for Gene (Select 1973) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275023	NM_001416.4(EIF4A1):c.12C>G (p.Ser4Arg)	EIF4A1, LOC130060162 +1 more (S4R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087979	NM_001416.4(EIF4A1):c.739C>T (p.Arg247Cys)	EIF4A1, SENP3-EIF4A1 (R247C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087978	NM_001416.4(EIF4A1):c.35A>G (p.Asn12Ser)	EIF4A1, SENP3-EIF4A1 (N12S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3087977	NM_001416.4(EIF4A1):c.313G>A (p.Val105Ile)	EIF4A1, SENP3-EIF4A1 (V105I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2429845	NM_001416.4(EIF4A1):c.931C>T (p.Arg311Ter)	EIF4A1, SENP3-EIF4A1 (R311*)	Single nucleotide variant (non-coding transcript variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 2210629	NM_001416.4(EIF4A1):c.20C>T (p.Ser7Phe)	EIF4A1, LOC130060162 +1 more (S7F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1328715	NM_001416.4(EIF4A1):c.267G>A (p.Ser89=)	EIF4A1, SENP3-EIF4A1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 930978	NM_001416.4(EIF4A1):c.769-8A>G	EIF4A1, SENP3-EIF4A1	Single nucleotide variant (intron variant)	See cases	GUncertain significance