"Inherited Neuropathy Consortium"[submitter] AND "NEFL"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 66678	NM_006158.5(NEFL):c.1492G>A (p.Ala498Thr)	NEFL (A498T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E	GUncertain significance
Select item 66677	NM_006158.5(NEFL):c.1458C>T (p.Ala486=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +1 more	GBenign/Likely benign
Select item 66676	NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)	NEFL (D468N)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 155738	NM_006158.5(NEFL):c.1319C>T (p.Pro440Leu)	NEFL (P440L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 66673	NM_006158.5(NEFL):c.1212C>T (p.Ser404=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 447763	NM_006158.5(NEFL):c.793T>G (p.Tyr265Asp)	NEFL (Y265D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +5 more	GConflicting classifications of pathogenicity
Select item 646801	NM_006158.5(NEFL):c.743A>C (p.Asp248Ala)	NEFL (D248A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 66697	NM_006158.5(NEFL):c.720C>T (p.Tyr240=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 66696	NM_006158.5(NEFL):c.667C>T (p.Leu223=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 66695	NM_006158.5(NEFL):c.639C>G (p.Ile213Met)	NEFL (I213M)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 66692	NM_006158.5(NEFL):c.423G>A (p.Gln141=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease +2 more	GLikely benign
Select item 66691	NM_006158.5(NEFL):c.279G>A (p.Gln93=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E	GLikely benign
Select item 66686	NM_006158.5(NEFL):c.227T>C (p.Val76Ala)	NEFL (V76A)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F +2 more	GBenign/Likely benign
Select item 637889	NM_006158.5(NEFL):c.192G>A (p.Leu64=)	NEFL	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 66694	NM_006158.5(NEFL):c.48_60dup (p.Thr21fs)	NEFL (T21fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 2E +1 more	GConflicting classifications of pathogenicity
Select item 66688	NM_006158.5(NEFL):c.23C>G (p.Pro8Arg)	NEFL (P8R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 287020	NM_006158.5(NEFL):c.22C>A (p.Pro8Thr)	NEFL (P8T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 66684	NM_006158.5(NEFL):c.19G>A (p.Glu7Lys)	NEFL (E7K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance