"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 993996	NM_006158.5(NEFL):c.1502A>G (p.Glu501Gly)	NEFL (E501G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 439965	NM_006158.5(NEFL):c.1392G>A (p.Glu464=)	NEFL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 993601	NM_006158.5(NEFL):c.781A>G (p.Ile261Val)	NEFL (I261V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66696	NM_006158.5(NEFL):c.667C>T (p.Leu223=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease, type I +4 more	GBenign/Likely benign
Select item 66695	NM_006158.5(NEFL):c.639C>G (p.Ile213Met)	NEFL (I213M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 386660	NM_006158.5(NEFL):c.584C>T (p.Ala195Val)	NEFL (A195V)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign

ClinVar