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Items: 74

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NUP88
Single nucleotide variant
(synonymous variant)
Fetal akinesia deformation sequence 4
+1 more
GBenign
NUP88
(R711Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(Q691P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(K680N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(D670E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NUP88
(R659Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(H648Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(H645Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NUP88
Single nucleotide variant
(intron variant)
Fetal akinesia deformation sequence 4
+1 more
GBenign
NUP88
Single nucleotide variant
(intron variant)
Fetal akinesia deformation sequence 4
+1 more
GBenign
NUP88
(E634del +1 more)
Deletion
(inframe_deletion)
Fetal akinesia deformation sequence 4
GPathogenic
NUP88
(K630E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(R637P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(E617K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
Single nucleotide variant
(intron variant)
NUP88-related disorder
GLikely benign
NUP88
Single nucleotide variant
(intron variant)
Fetal akinesia deformation sequence 4
+1 more
GBenign
NUP88
(C608R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(D581G +1 more)
Single nucleotide variant
(missense variant)
NUP88-related disorder
GLikely benign
NUP88
(Q580E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(L564R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(P574A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(P557S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
Single nucleotide variant
(synonymous variant +1 more)
NUP88-related disorder
GLikely benign
NUP88
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NUP88
(R539H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(R539C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(E530G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(T525I)
Single nucleotide variant
(missense variant)
NUP88-related disorder
GLikely benign
NUP88
(R520C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(R509*)
Single nucleotide variant
(nonsense)
Fetal akinesia deformation sequence 4
GPathogenic
NUP88
(P504S)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 4
GUncertain significance
NUP88
Single nucleotide variant
(synonymous variant)
NUP88-related disorder
GBenign
NUP88
(A501V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(T497I)
Single nucleotide variant
(missense variant)
NUP88-related disorder
GLikely benign
NUP88
(P473L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
Single nucleotide variant
(synonymous variant)
Fetal akinesia deformation sequence 4
+1 more
GBenign
NUP88
Single nucleotide variant
(intron variant)
NUP88-related disorder
GLikely benign
NUP88
Single nucleotide variant
(synonymous variant)
NUP88-related disorder
GLikely benign
NUP88
(D434Y)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 4
GPathogenic
NUP88
Single nucleotide variant
(intron variant)
Fetal akinesia deformation sequence 4
+1 more
GBenign
NUP88
(H422Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(C391S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(S387C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(D382G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(L373F)
Single nucleotide variant
(missense variant)
Fetal akinesia deformation sequence 4
+1 more
GUncertain significance
NUP88
(F366V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
Duplication
(intron variant)
NUP88-related disorder
GLikely benign
NUP88
Single nucleotide variant
(intron variant)
NUP88-related disorder
GBenign
NUP88
(V337A)
Single nucleotide variant
(missense variant)
NUP88-related disorder
GBenign
NUP88
(T328I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(V320I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
Single nucleotide variant
(intron variant)
NUP88-related disorder
GLikely benign
NUP88
(H285P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(T252I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(A238E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(A232T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(A229V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(N225S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(T209S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(P205L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(T152I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(S144C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(P106A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(L83F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(V80A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(G65C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(G65S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(V60A)
Single nucleotide variant
(missense variant)
NUP88-related disorder
GLikely benign
NUP88
(A43T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(P42L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(Q34R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(N33K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NUP88
(P7L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NUP88
(G6R)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
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