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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEFL
(Q334P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
Gnot provided
NEFL
(A149V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
GUncertain significance
NEFL
(N98S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, dominant intermediate G
+6 more
GPathogenic/Likely pathogenic
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)
Inborn genetic diseases
+10 more
GPathogenic/Likely pathogenic
NEFL
(P8R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GPathogenic/Likely pathogenic
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