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Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEFL
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
NEFL
(E527del)
Microsatellite
(inframe_deletion)
not specified
+1 more
GBenign
NEFL
(E526fs)
Duplication
(frameshift variant)
not provided
Gnot provided
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GBenign
NEFL
(A498T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
+1 more
GBenign/Likely benign
NEFL
(D468N)
Single nucleotide variant
(missense variant)
not provided
+4 more
GBenign/Likely benign
NEFL
(Y443*)
Single nucleotide variant
(nonsense)
not provided
Gnot provided
NEFL
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
NEFL
(E397K)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NEFL
(E396K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
LOC126860330, NEFL
Duplication
(intron variant)
not provided
Gnot provided
NEFL
(L333P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(Q332P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GPathogenic
NEFL
Deletion
(inframe_deletion)
not provided
Gnot provided
NEFL
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
NEFL
(L268P)
Single nucleotide variant
(missense variant)
Peripheral neuropathy
GPathogenic
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely benign
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
+4 more
GBenign/Likely benign
NEFL
(I213M)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
NEFL
(A149V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
NEFL
(E140*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease type 1F
GPathogenic
NEFL
(N98S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+6 more
GPathogenic/Likely pathogenic
NEFL
(L94P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GPathogenic
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
+1 more
GLikely benign
NEFL
(E90K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+1 more
GPathogenic
NEFL
(V76A)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GBenign/Likely benign
NEFL
(V76E)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NEFL
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 2E
GLikely 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
(P22S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+10 more
GPathogenic/Likely pathogenic
NEFL
(T21fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease type 2E
+1 more
GConflicting classifications of pathogenicity
NEFL
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease type 1F
+1 more
GConflicting classifications of pathogenicity
NEFL
(P8L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+1 more
GPathogenic
NEFL
(P8R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
NEFL
(P8Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GPathogenic
NEFL
(P8R)
Indel
(missense variant)
Charcot-Marie-Tooth disease type 2E
+1 more
GPathogenic
NEFL
(E7K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
GUncertain significance
NEFL
Indel
(5 prime UTR variant)
not provided
Gnot provided
NEFL
Microsatellite
(5 prime UTR variant)
not provided
Gnot provided
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