EAF2[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2654073	NM_018456.6(EAF2):c.338+4T>A	EAF2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2603661	NM_018456.6(EAF2):c.391A>C (p.Met131Leu)	EAF2 (M131L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2387016	NM_018456.6(EAF2):c.434C>A (p.Pro145Gln)	EAF2 (P145Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294405	NM_018456.6(EAF2):c.454C>T (p.Pro152Ser)	EAF2 (P152S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2588236	NM_018456.6(EAF2):c.478G>A (p.Glu160Lys)	EAF2 (E160K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 761634	NM_018456.6(EAF2):c.603T>C (p.Asp201=)	EAF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2214083	NM_018456.6(EAF2):c.631A>T (p.Asn211Tyr)	EAF2 (N211Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 752374	NM_018456.6(EAF2):c.696T>C (p.Asn232=)	EAF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728765	NM_018456.6(EAF2):c.767G>A (p.Ser256Asn)	EAF2 (S256N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign