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Links from MedGen

Items: 62

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEFL
(F104C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
(T88P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+1 more
GConflicting classifications of pathogenicity
NEFL
(Y6*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 1F
GPathogenic
NEFL
(Y18*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 1F
GLikely pathogenic
NEFL
(H25N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
(D343del)
Deletion
(inframe_deletion)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
(P470S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+2 more
GConflicting classifications of pathogenicity
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
Charcot-Marie-Tooth disease type 1F
GBenign
NEFL
(Q113P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1F
+2 more
GConflicting classifications of pathogenicity
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GBenign
NEFL
(Q113H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
(E180D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 1F
GLikely benign
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 1F
+1 more
GConflicting classifications of pathogenicity
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GLikely benign
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
(F439I)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 1F
+2 more
GConflicting classifications of pathogenicity
NEFL
Single nucleotide variant
Charcot-Marie-Tooth disease type 1F
+1 more
GBenign
NEFL
(Y265D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, dominant intermediate G
+5 more
GConflicting classifications of pathogenicity
NEFL
(R399*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
NEFL
Single nucleotide variant
(5 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GBenign
NEFL
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign/Likely benign
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GBenign
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GBenign
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GBenign
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GBenign
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GUncertain significance
NEFL
Single nucleotide variant
(3 prime UTR variant)
Charcot-Marie-Tooth disease type 1F
GBenign
NEFL
(L329P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+3 more
GConflicting classifications of pathogenicity
NEFL
(Q537R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+5 more
GConflicting classifications of pathogenicity
NEFL
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
NEFL
(I213M)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 1F
+1 more
GConflicting classifications of pathogenicity
NEFL
(V76A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GBenign/Likely benign
NEFL
(E527del)
Microsatellite
(inframe_deletion)
not specified
+1 more
GBenign
NEFL
(D468N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+4 more
GBenign/Likely benign
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 1F
+4 more
GBenign/Likely benign
NEFL
(P22R)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
NEFL
(P22T)
Single nucleotide variant
(missense variant)
not provided
+1 more
Gnot provided
NEFL
(A149V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(N98S)
Single nucleotide variant
(missense variant)
Sensorineural hearing loss disorder
+6 more
GPathogenic/Likely pathogenic
NEFL
(E210*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 1F
GPathogenic
NEFL
(E140*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 1F
GPathogenic
NEFL
(P8R)
Indel
(missense variant)
Charcot-Marie-Tooth disease type 1F
+1 more
GPathogenic
NEFL
(P22S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+10 more
GPathogenic/Likely pathogenic
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