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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEFL
(E266Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, dominant intermediate G
GUncertain significance
NEFL
Duplication
(inframe_insertion)
Charcot-Marie-Tooth disease, dominant intermediate G
GUncertain significance
NEFL
(E140K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, dominant intermediate G
+1 more
GUncertain significance
NEFL
(Y265D)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+5 more
GConflicting classifications of pathogenicity
NEFL
(S49F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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)
not specified
+5 more
GConflicting classifications of pathogenicity
NEFL
(P22H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease type 2E
+2 more
GConflicting classifications of pathogenicity
NEFL
(E396K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
NEFL
(N98S)
Single nucleotide variant
(missense variant)
not provided
+6 more
GPathogenic/Likely pathogenic
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