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Links from Gene

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP107
(T754A +1 more)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 7
GUncertain significance
NUP107
(R326C +1 more)
Single nucleotide variant
(missense variant)
Galloway-Mowat syndrome 7
GLikely pathogenic
NUP107
(T205fs +1 more)
Duplication
(frameshift variant)
not provided
GUncertain significance
NUP107
(Q726* +1 more)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
NUP107
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
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