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Links from MedGen

Items: 1 to 100 of 150

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
(T61A)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
(Q317R +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
(R220K)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(I107V)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(P75L)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Deletion
(intron variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(R111K)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(N122S)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Deletion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(A49V)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
Deletion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(K64E)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
(T61S)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
(S445G +1 more)
Single nucleotide variant
(missense variant)
UPF3B-related condition
+1 more
GUncertain significance
UPF3B
Single nucleotide variant
(synonymous variant)
UPF3B-related condition
+1 more
GConflicting classifications of pathogenicity
UPF3B
(R272K)
Single nucleotide variant
(missense variant +1 more)
Syndromic X-linked intellectual disability 14
GUncertain significance
ATP1B4, AKAP14
+18 more
Duplication
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Insertion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
+1 more
GConflicting classifications of pathogenicity
UPF3B
(K330R +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
(R337W +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
(D155N)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
(R355Q +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
(R361C +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
+1 more
GBenign/Likely benign
UPF3B
(E392del +1 more)
Microsatellite
(inframe_deletion)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(E81K)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(V54fs)
Indel
(frameshift variant)
Syndromic X-linked intellectual disability 14
GPathogenic
UPF3B
(P19L)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Insertion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Insertion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(K422del +1 more)
Deletion
(inframe_deletion)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Duplication
(intron variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(T406fs +1 more)
Duplication
(frameshift variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Insertion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(S30L)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
(I359V +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Insertion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(E338G +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
(R451Q +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(T399I +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Deletion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
(E370* +1 more)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability 14
GLikely pathogenic
UPF3B
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GBenign/Likely benign
UPF3B
(K422R +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
+1 more
GUncertain significance
UPF3B
(I130V)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
+1 more
GUncertain significance
UPF3B
(M174V)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
GUncertain significance
UPF3B
(Y90*)
Single nucleotide variant
(nonsense)
Syndromic X-linked intellectual disability 14
GLikely pathogenic
UPF3B
(R300G +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
UPF3B
(K376fs +1 more)
Deletion
(frameshift variant)
Syndromic X-linked intellectual disability 14
GPathogenic
UPF3B
Duplication
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Insertion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
+1 more
GLikely benign
UPF3B
Insertion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Duplication
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Duplication
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Duplication
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Duplication
(intron variant)
Inborn genetic diseases
+1 more
GLikely benign
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Duplication
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
Insertion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
(R388W +1 more)
Single nucleotide variant
(missense variant)
Syndromic X-linked intellectual disability 14
+1 more
GBenign/Likely benign
UPF3B
Deletion
(intron variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
(R366H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
UPF3B
Insertion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Duplication
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Duplication
(intron variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
Insertion
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
UPF3B
Single nucleotide variant
(intron variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Single nucleotide variant
(synonymous variant)
Syndromic X-linked intellectual disability 14
GLikely benign
UPF3B
Duplication
(intron variant)
Syndromic X-linked intellectual disability 14
GBenign
UPF3B
Duplication
(intron variant)
Syndromic X-linked intellectual disability 14
GBenign
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