"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "NEFL"[gene - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425439	NM_006158.5(NEFL):c.*6del	NEFL	Deletion (3 prime UTR variant)	not provided	GUncertain significance
Select item 220209	NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)	NEFL (Q537R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +5 more	GConflicting classifications of pathogenicity
Select item 624316	NM_006158.5(NEFL):c.1585A>G (p.Lys529Glu)	NEFL (K529E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +2 more	GUncertain significance
Select item 444741	NM_006158.5(NEFL):c.1429G>A (p.Glu477Lys)	NEFL (E477K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 66676	NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)	NEFL (D468N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +4 more	GBenign/Likely benign
Select item 1517481	NM_006158.5(NEFL):c.1310G>A (p.Arg437His)	NEFL (R437H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +2 more	GUncertain significance
Select item 624317	NM_006158.5(NEFL):c.1267G>C (p.Ala423Pro)	NEFL (A423P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 66673	NM_006158.5(NEFL):c.1212C>T (p.Ser404=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 1F +4 more	GBenign/Likely benign
Select item 444742	NM_006158.5(NEFL):c.1195C>T (p.Arg399Ter)	NEFL (R399*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 533509	NM_006158.5(NEFL):c.1175T>A (p.Leu392His)	NEFL (L392H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GConflicting classifications of pathogenicity
Select item 624318	NM_006158.5(NEFL):c.1131C>T (p.Asn377=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +1 more	GLikely benign
Select item 810262	NM_006158.5(NEFL):c.1104C>T (p.Tyr368=)	LOC126860330, NEFL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1695224	NM_006158.5(NEFL):c.1038T>C (p.Ala346=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +1 more	GLikely benign
Select item 234913	NM_006158.5(NEFL):c.986T>C (p.Leu329Pro)	NEFL (L329P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +3 more	GConflicting classifications of pathogenicity
Select item 383727	NM_006158.5(NEFL):c.855C>T (p.Thr285=)	NEFL	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 66696	NM_006158.5(NEFL):c.667C>T (p.Leu223=)	NEFL	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2E +4 more	GBenign/Likely benign
Select item 66695	NM_006158.5(NEFL):c.639C>G (p.Ile213Met)	NEFL (I213M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 1F +6 more	GConflicting classifications of pathogenicity
Select item 2658486	NM_006158.5(NEFL):c.621C>A (p.Ala207=)	NEFL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 464927	NM_006158.5(NEFL):c.582A>C (p.Glu194Asp)	NEFL (E194D)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease +4 more	GBenign/Likely benign
Select item 412299	NM_006158.5(NEFL):c.579G>A (p.Met193Ile)	NEFL (M193I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 493475	NM_006158.5(NEFL):c.520C>T (p.Leu174=)	NEFL	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1695225	NM_006158.5(NEFL):c.447G>A (p.Ala149=)	NEFL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 870712	NM_006158.5(NEFL):c.431G>A (p.Arg144His)	NEFL (R144H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 547033	NM_006158.5(NEFL):c.353T>G (p.Leu118Arg)	NEFL (L118R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2658487	NM_006158.5(NEFL):c.311T>C (p.Phe104Ser)	NEFL (F104S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 41236	NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	NEFL (N98S)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder +6 more	GPathogenic/Likely pathogenic
Select item 2579045	NM_006158.5(NEFL):c.292A>C (p.Asn98His)	NEFL (N98H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1335707	NM_006158.5(NEFL):c.197C>T (p.Pro66Leu)	NEFL (P66L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2658488	NM_006158.5(NEFL):c.194T>C (p.Met65Thr)	NEFL (M65T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2E +1 more	GUncertain significance
Select item 444743	NM_006158.5(NEFL):c.146C>T (p.Ser49Phe)	NEFL (S49F)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, dominant intermediate G +1 more	GUncertain significance
Select item 2499083	GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1	ADAM28, ADAM7 +46 more	Copy number loss	not provided	GLikely pathogenic
Select item 624504	GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3	ADAM28, ADAM7 +123 more	Copy number gain	not provided	GLikely pathogenic

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Items: 32