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Links from Gene

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELANE
Deletion
(inframe_indel +1 more)
Cyclical neutropenia
GUncertain significance
ELANE
(F199L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELANE
(G85V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELANE
(G214R)
Single nucleotide variant
(missense variant)
Cyclical neutropenia
Gnot provided
ELANE
(V45L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELANE
(A57V)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
ELANE
(R248C)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ELANE
(V98L)
Single nucleotide variant
(missense variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
ELANE
(V101L)
Single nucleotide variant
(missense variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
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