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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NEFM
(F35Y)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NEFM
(I129M)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NEFM
Single nucleotide variant
(synonymous variant)
not provided
Gnot provided
NEFM
(S279R)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NEFM
(G336S)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NEFM
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
Gnot provided
NEFM
(T474A +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NEFM
(A475T +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NEFM
(G697R +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NEFM
(V718A +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NEFM
(P725Q +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NEFM
(V755L +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
NEFM
(V830del +1 more)
Deletion
(inframe_deletion)
not provided
Gnot provided
NEFM
(V858I +1 more)
Single nucleotide variant
(missense variant)
not provided
Gnot provided
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