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(2)
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(2)
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Search results
Items: 2
Variation
Gene
(Protein Change)
Type
(Consequence)
Condition
Classification, Review status
Select item 689368
NM_006158.5(
NEFL
):c.837G>A (p.Trp279Ter)
NEFL
(W279*)
Single nucleotide variant
(nonsense)
Peripheral neuropathy
G
Likely pathogenic
Select item 66698
NM_006158.5(
NEFL
):c.803T>C (p.Leu268Pro)
NEFL
(L268P)
Single nucleotide variant
(missense variant)
Peripheral neuropathy
G
Pathogenic
Click to view in NCBI Gene