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Links from MedGen

Items: 1 to 100 of 354

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TBL1XR1
Single nucleotide variant
(synonymous variant +1 more)
Pierpont syndrome
GLikely benign
TBL1XR1, TBL1XR1-AS1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
(H58L +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
LOC126806878, TBL1XR1
+1 more
(P254L +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Deletion
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Insertion
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1, TBL1XR1-AS1
(H209R +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
(G122E +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Duplication
(splice donor variant)
Pierpont syndrome
GUncertain significance
TBL1XR1, TBL1XR1-AS1
(K190fs +1 more)
Deletion
(frameshift variant)
Pierpont syndrome
GPathogenic
TBL1XR1
(V358M +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
(L97del +1 more)
Deletion
(inframe_deletion)
Pierpont syndrome
GUncertain significance
TBL1XR1
(S137I +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
(V123G +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Deletion
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
LOC126806878, TBL1XR1
+1 more
(N233T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Pierpont syndrome
GUncertain significance
TBL1XR1
(N91S +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Deletion
(inframe_deletion)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(synonymous variant +1 more)
Pierpont syndrome
GLikely benign
LOC126806878, TBL1XR1
+1 more
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
LOC126806878, TBL1XR1
+1 more
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
LOC126806878, TBL1XR1
+1 more
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
LOC126806878, TBL1XR1
+1 more
Single nucleotide variant
(intron variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
(F462S +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
(A362V +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1, TBL1XR1-AS1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
(N45S +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
(A89S +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1, TBL1XR1-AS1
(T174fs +1 more)
Duplication
(frameshift variant)
Pierpont syndrome
GPathogenic
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
(A42T)
Single nucleotide variant
(missense variant +1 more)
Pierpont syndrome
GUncertain significance
TBL1XR1
Deletion
(inframe_deletion +1 more)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
LOC126806878, TBL1XR1
+1 more
(T262M +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
(Q93E +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(synonymous variant +1 more)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Duplication
(intron variant)
Pierpont syndrome
GBenign
TBL1XR1
(K226N +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
+1 more
GLikely benign
TBL1XR1
(G70C)
Single nucleotide variant
(missense variant +1 more)
TBL1XR1-related condition
+1 more
GPathogenic/Likely pathogenic
TBL1XR1
(I141fs +1 more)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 41
+1 more
GPathogenic
TBL1XR1
Copy number loss
Pierpont syndrome
+1 more
Gnot provided
TBL1XR1
(V135D +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126806878, TBL1XR1
+1 more
Single nucleotide variant
(splice donor variant)
Pierpont syndrome
GPathogenic
TBL1XR1
(S199R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LOC126806878, TBL1XR1
+1 more
(N233del +1 more)
Microsatellite
(non-coding transcript variant +1 more)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
(V297F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
LOC126806878, TBL1XR1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(synonymous variant +1 more)
Pierpont syndrome
GLikely benign
TBL1XR1
(S119G +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(synonymous variant +1 more)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1, TBL1XR1-AS1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1, TBL1XR1-AS1
Microsatellite
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1-AS1, LOC126806878
+1 more
Single nucleotide variant
(intron variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
(T120A +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(synonymous variant +1 more)
Pierpont syndrome
GUncertain significance
TBL1XR1
(N391D +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
(L16V +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1, TBL1XR1-AS1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1, TBL1XR1-AS1
(S148N +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1, TBL1XR1-AS1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
(M414L +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
(D343E +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1, TBL1XR1-AS1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(synonymous variant)
Pierpont syndrome
GLikely benign
TBL1XR1
(T473A +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1, TBL1XR1-AS1
(T242A +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1, TBL1XR1-AS1
(K186R +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Single nucleotide variant
(synonymous variant +1 more)
Pierpont syndrome
GLikely benign
TBL1XR1, TBL1XR1-AS1
(K276R +1 more)
Single nucleotide variant
(missense variant)
Pierpont syndrome
GUncertain significance
TBL1XR1
Duplication
(intron variant)
Pierpont syndrome
GBenign
LOC126806878, TBL1XR1
+1 more
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
TBL1XR1
Single nucleotide variant
(intron variant)
Pierpont syndrome
GLikely benign
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