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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP214
(I310T +1 more)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 9
GUncertain significance
NUP214
(F139L +1 more)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 9
GUncertain significance
NUP214
(I377V +1 more)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 9
GUncertain significance
NUP214
(T1105M +1 more)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 9
+1 more
GUncertain significance
NUP214
(S471F)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 9
GUncertain significance
NUP214
(S39L)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 9
GUncertain significance
NUP214
(P525fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NUP214
(P387S)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 9
Grisk factor
NUP214
(D154G)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 9
Grisk factor
NUP214
(R38C)
Single nucleotide variant
(missense variant)
Encephalopathy, acute, infection-induced, susceptibility to, 9
GPathogenic/Likely pathogenic
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