C9JEC9 · C9JEC9_HUMAN

  • Protein
    TBL1X/Y related 1
  • Gene
    TBL1XR1
  • Status
    UniProtKB unreviewed (TrEMBL)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    1/5

Variants

1811020304050607080
MSISSDEVNFLVYRYLQESGFSHSAFTFGIESHISQSNINGALVPPAALISIIQKGLQYVEAEVSINEDGTLFDGRPIESL
GAVLISTCMDNEQRKHFYWPd*GAVLISTCMDNEQRKHFYWPd*
Variant
ID(s)
Position(s)ChangeDescriptionClinical
significance
Provenance
RCV000807759
rs1577062828
6D>G
Pierpont syndrome (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001210012
RCV004548061
rs1718967303
10F>L
Pierpont syndrome (ClinVar)
TBL1XR1-related disorder (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001897037
rs1405162373
13Y>C
Pierpont syndrome (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs140516237313Y>FVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV001291683
RCV001291684
rs1718965342
14R>G
Pierpont syndrome (ClinVar)
Intellectual disability, autosomal dominant 41 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs86677263916L>FEnsembl
rs134773619917Q>HTOPMed
rs86646123218E>*Ensembl
rs134274474621F>LgnomAD
RCV001558255
rs2108504127
25A>TVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
CA10585976
RCV000239066
RCV001249757
rs879255421
29G>D
TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs121670253330I>TgnomAD
rs210850408930I>VEnsembl
COSV61790874
RCV001316541
rs919621560
33H>R
Pierpont syndrome (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
TOPMed
dbSNP
gnomAD
rs171743707133H>YgnomAD
COSV61790135
RCV001946286
rs1717436350
38N>S
Pierpont syndrome (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar)NCI-TCGA Cosmic
cosmic curated
ClinVar
Ensembl
dbSNP
COSV61790204
RCV002225992
RCV003093888
rs2108504030
40N>S
Pierpont syndrome (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
Ensembl
dbSNP
rs123447009341G>AVariant of uncertain significance (Ensembl)TOPMed
gnomAD
RCV001971780
rs1234470093
41G>D
Pierpont syndrome (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
TOPMed
dbSNP
gnomAD
rs127815333142A>TgnomAD
COSV61789320
rs1217281514
42A>Vcosmic curated
gnomAD
CA355553694
RCV000624456
RCV001069668
rs1553817638
44V>I
Pierpont syndrome (ClinVar)
Inborn genetic diseases (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinGen
ClinVar
Ensembl
dbSNP
rs125305895447A>SVariant of uncertain significance (Ensembl)Ensembl
COSV107431473
RCV000998158
RCV003754903
rs1253058954
47A>T
Pierpont syndrome (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)cosmic curated
ClinVar
Ensembl
dbSNP
rs171743201248A>TTOPMed
rs74540484352I>VExAC
TOPMed
gnomAD
RCV002247167
rs2108503870
63E>K
Intellectual disability, autosomal dominant 41 (ClinVar)
Likely pathogenic (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
RCV001204756
rs1717428641
66I>S
Pierpont syndrome (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs147616912767N>TgnomAD
RCV001872576
rs2108497431
69D>Y
Pierpont syndrome (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
VAR_076753
CA236468
RCV000171553
rs786205859
70G>D
MRD41 (UniProt)
Intellectual disability, autosomal dominant 41 (ClinVar)
Pathogenic (Ensembl, ClinVar, UniProt)UniProt
ClinGen
ClinVar
Ensembl
dbSNP
RCV001253379
rs1717114995
70G>R
Intellectual disability, autosomal dominant 41 (ClinVar)
Variant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
rs210849740671T>IEnsembl
rs210849739272L>FLikely benign (Ensembl)Ensembl
rs122238766275G>SEnsembl
COSV61789589
RCV000987354
RCV003127562
rs1577029680
76R>*
Pierpont syndrome (ClinVar)
Pathogenic (Ensembl, ClinVar)cosmic curated
ClinVar
Ensembl
dbSNP
RCV001757134
rs2108497362
76R>QVariant of uncertain significance (Ensembl, ClinVar)ClinVar
Ensembl
dbSNP
COSV61793107
rs1480036210
77P>Lcosmic curated
gnomAD
COSV100763612
RCV001070301
rs935282343
78I>V
Pierpont syndrome (ClinVar)
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA)NCI-TCGA Cosmic
cosmic curated
ClinVar
dbSNP
gnomAD
TCGA novel
rs1717111856
81L>V
Variant assessed as Somatic; MODERATE impact. (NCI-TCGA)
Variant of uncertain significance (Ensembl)NCI-TCGA
Ensembl
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