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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEFH
(D113fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2CC
GUncertain significance
NEFH
(M255T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2CC
+1 more
GUncertain significance
NEFH
(R346C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NEFH
(R352H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NEFH
(R383*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2CC
+1 more
GUncertain significance
NEFH
(A506T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2CC
GUncertain significance
NEFH
(P683L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2CC
GUncertain significance
NEFH
(E792del)
Microsatellite
(inframe_deletion)
Charcot-Marie-Tooth disease axonal type 2CC
GUncertain significance
NEFH
(A799V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2CC
+1 more
GUncertain significance
NEFH
(E960K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2CC
GUncertain significance
NEFH
(K964M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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