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Links from Gene

Items: 1 to 100 of 193

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IL4I1, NUP62
(P299S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(G41E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
MED25, RRAS
+35 more
Duplication
Developmental and epileptic encephalopathy, 12
GUncertain significance
IL4I1, NUP62
Duplication
not provided
GUncertain significance
IL4I1, NUP62
(A331V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(E507V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(E501D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(L471P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(T420I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(K371E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ACP4, ADM5
+118 more
Copy number gain
not specified
GLikely pathogenic
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
NUP62-related disorder
GLikely benign
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
NUP62-related disorder
GLikely benign
IL4I1, NUP62
(A463T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(T153A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(S257I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(R515H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NUP62, IL4I1
(R377H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(G3R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(A124G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(E411G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(T146S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(T278A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(T276I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(G91R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IL4I1, NUP62
(G85E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(E412G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACP4, ADM5
+261 more
Copy number gain
not provided
GLikely pathogenic
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(H350Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(T20I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(M482L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(L62I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(T235S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IL4I1, NUP62
(T138S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
IL4I1, NUP62
(L99S)
Single nucleotide variant
(missense variant +1 more)
Familial infantile bilateral striatal necrosis
GUncertain significance
ATF5, IL4I1
+6 more
Duplication
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(E378K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(E412D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(A63V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IL4I1, NUP62
(M482K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(A152T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(T280A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IL4I1, NUP62
(R349Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(A319T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(A197T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(S268del)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
NUP62, IL4I1
(R430C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(A260S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(D441N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(I225V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IL4I1, NUP62
(A318T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(T253S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(T244N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(S126L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(F74L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(T86S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
IL4I1, NUP62
(A463V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(S516T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NUP62, IL4I1
(A298V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IL4I1, NUP62
(A246V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(T280P)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IL4I1, NUP62
(P192L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IL4I1, NUP62
(A274T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IL4I1, NUP62
(S127R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(D469*)
Duplication
(nonsense +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(T191S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(G58S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(A322V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IL4I1, NUP62
(T23M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(T105A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IL4I1, NUP62
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(E392D)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(A260T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(S83P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(S272P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(G301R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(T250N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IL4I1, NUP62
(T282del)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
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