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Items: 1 to 100 of 189

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZBTB45, ZFP28
+1081 more
Copy number gain
See cases
GPathogenic
LOC130064933, LOC130064934
+1093 more
Copy number gain
See cases
GPathogenic
LOC113939975, LOC116286194
+806 more
Copy number gain
See cases
GPathogenic
IL4I1, NUP62
(S516T)
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
NUP62, IL4I1
(R509W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(E507V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IL4I1, NUP62
(E501D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(M482K)
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
(N479S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(L471P)
Single nucleotide variant
(missense variant +1 more)
not specified
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
(A463V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NUP62, IL4I1
(A463T)
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
(E456K)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
IL4I1, NUP62
(D453N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NUP62, IL4I1
Single nucleotide variant
(synonymous variant +1 more)
NUP62-related condition
+1 more
GBenign
NUP62, IL4I1
Single nucleotide variant
(synonymous variant +1 more)
Infantile bilateral striatal necrosis
+1 more
GBenign
IL4I1, NUP62
(D441N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(R430C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(D427N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IL4I1, NUP62
(T420I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(E412D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(E412G)
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
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(E392D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(Q391P)
Single nucleotide variant
(missense variant +1 more)
Infantile bilateral striatal necrosis
GPathogenic
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
NUP62-related condition
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
(R377H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
IL4I1, NUP62
(K371E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(I366M)
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
(R363H)
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
(H350Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(R349Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NUP62, IL4I1
(R349W)
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
(A331V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(A331T)
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
(A322V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IL4I1, NUP62
(A319T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(A318T)
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
(A312V)
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
(G301R)
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
(A298V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
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
Microsatellite
(inframe_insertion +1 more)
not provided
GBenign
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
NUP62, IL4I1
(S283T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
IL4I1, NUP62
(T282del)
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(T281S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NUP62, IL4I1
(T281A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NUP62, IL4I1
Microsatellite
(inframe_insertion +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Microsatellite
(inframe_deletion +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(T280A)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
IL4I1, NUP62
(T280P)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
IL4I1, NUP62
(A279T)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
IL4I1, NUP62
(T278A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(T276I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(A274T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(S272P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(T271S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
IL4I1, NUP62
(S268del)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(G266S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
IL4I1, NUP62
(A260S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
(A260T)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
IL4I1, NUP62
(S257I)
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
(T253S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
IL4I1, NUP62
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
IL4I1, NUP62
(T250N)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
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