STXBP2 (syntaxin binding protein 2) - Rat Genome Database
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Gene: STXBP2 (syntaxin binding protein 2) Homo sapiens
Analyze
Symbol: STXBP2
Name: syntaxin binding protein 2
RGD ID: 733592
HGNC Page HGNC
Description: Exhibits syntaxin-3 binding activity. Involved in leukocyte mediated cytotoxicity and neutrophil degranulation. Localizes to several cellular components, including cytolytic granule; cytosol; and secretory granule. Implicated in familial hemophagocytic lymphohistiocytosis 5.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FHL5; Hunc18b; MUNC18-2; pp10122; protein unc-18 homolog 2; protein unc-18 homolog B; syntaxin-binding protein 2; unc-18B; UNC18-2; UNC18B
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl197,636,881 - 7,647,873 (+)EnsemblGRCh38hg38GRCh38
GRCh38197,637,110 - 7,647,873 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37197,701,996 - 7,712,759 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,608,011 - 7,618,707 (+)NCBINCBI36hg18NCBI36
Build 34197,608,020 - 7,618,697NCBI
Celera197,573,175 - 7,583,945 (+)NCBI
Cytogenetic Map19p13.2NCBI
HuRef197,371,707 - 7,382,556 (+)NCBIHuRef
CHM1_1197,701,738 - 7,712,511 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


References

Additional References at PubMed
PMID:7598732   PMID:7768895   PMID:8125298   PMID:8921365   PMID:9045631   PMID:9701566   PMID:10788461   PMID:11337467   PMID:11487543   PMID:11748230   PMID:12065586   PMID:12198139  
PMID:12477932   PMID:12482918   PMID:12649283   PMID:12773094   PMID:14702039   PMID:16344560   PMID:18588921   PMID:19056867   PMID:19460752   PMID:19804848   PMID:19884660   PMID:20301617  
PMID:20558610   PMID:20695848   PMID:20798128   PMID:20823128   PMID:21152410   PMID:21873635   PMID:21881043   PMID:21990010   PMID:22123903   PMID:22336081   PMID:22451424   PMID:22672194  
PMID:22791290   PMID:22796692   PMID:22939629   PMID:23100279   PMID:23376485   PMID:23382066   PMID:23487749   PMID:23533145   PMID:23687090   PMID:24194549   PMID:24711643   PMID:25036637  
PMID:25564401   PMID:25947952   PMID:26186194   PMID:26320718   PMID:26344197   PMID:26451869   PMID:26496610   PMID:26553929   PMID:27513731   PMID:27781387   PMID:28163042   PMID:28380445  
PMID:28514442   PMID:28718761   PMID:29044293   PMID:29360461   PMID:29599780   PMID:29955894   PMID:30021884   PMID:30110629   PMID:30364784   PMID:30463901   PMID:31091453   PMID:31280863  
PMID:31536960   PMID:31586073   PMID:31651726   PMID:33001583  


Genomics

Comparative Map Data
STXBP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl197,636,881 - 7,647,873 (+)EnsemblGRCh38hg38GRCh38
GRCh38197,637,110 - 7,647,873 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37197,701,996 - 7,712,759 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36197,608,011 - 7,618,707 (+)NCBINCBI36hg18NCBI36
Build 34197,608,020 - 7,618,697NCBI
Celera197,573,175 - 7,583,945 (+)NCBI
Cytogenetic Map19p13.2NCBI
HuRef197,371,707 - 7,382,556 (+)NCBIHuRef
CHM1_1197,701,738 - 7,712,511 (+)NCBICHM1_1
Stxbp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3983,680,960 - 3,693,998 (+)NCBIGRCm39mm39
GRCm39 Ensembl83,680,955 - 3,693,644 (+)Ensembl
GRCm3883,630,960 - 3,643,998 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl83,630,955 - 3,643,644 (+)EnsemblGRCm38mm10GRCm38
MGSCv3783,631,160 - 3,643,644 (+)NCBIGRCm37mm9NCBIm37
MGSCv3683,631,150 - 3,642,795 (+)NCBImm8
Celera83,861,489 - 3,873,974 (+)NCBICelera
Cytogenetic Map8A1.1NCBI
cM Map81.92NCBI
Stxbp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2121,689,364 - 1,701,145 (+)NCBI
Rnor_6.0 Ensembl122,180,150 - 2,191,175 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0122,180,101 - 2,191,863 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0124,342,202 - 4,353,960 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4122,511,793 - 2,522,818 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1122,511,792 - 2,522,818 (-)NCBI
Celera123,545,180 - 3,556,207 (+)NCBICelera
Cytogenetic Map12p12NCBI
Stxbp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555631,617,621 - 1,624,441 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555631,617,621 - 1,624,441 (-)NCBIChiLan1.0ChiLan1.0
STXBP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1197,781,830 - 7,792,038 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl197,781,830 - 7,792,038 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0196,926,833 - 6,937,385 (+)NCBIMhudiblu_PPA_v0panPan3
STXBP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2052,413,191 - 52,421,517 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12052,413,174 - 52,421,525 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Stxbp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365884,688,221 - 4,696,075 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STXBP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl271,504,569 - 71,513,422 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1271,504,575 - 71,513,446 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2271,843,349 - 71,852,236 (+)NCBISscrofa10.2Sscrofa10.2susScr3
STXBP2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.167,123,564 - 7,133,459 (+)NCBI
ChlSab1.1 Ensembl67,123,597 - 7,133,460 (+)Ensembl
Stxbp2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624828718,728 - 725,063 (+)NCBI

Position Markers
RH36223  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37197,712,348 - 7,712,673UniSTSGRCh37
Celera197,583,534 - 7,583,859UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
HuRef197,382,144 - 7,382,469UniSTS
GeneMap99-GB4 RH Map1949.21UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6953
Count of miRNA genes:1062
Interacting mature miRNAs:1371
Transcripts:ENST00000221283, ENST00000414284, ENST00000441779, ENST00000593535, ENST00000593854, ENST00000594221, ENST00000595181, ENST00000595800, ENST00000595861, ENST00000595950, ENST00000597068, ENST00000597467, ENST00000599278, ENST00000599400, ENST00000599558, ENST00000599648, ENST00000599737, ENST00000599905, ENST00000600702, ENST00000601061, ENST00000602355
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 15 15
Medium 1095 1053 1547 490 1881 332 2050 108 496 378 1071 1560 172 1 819 866 4 2
Low 1336 1875 174 133 53 132 2112 1859 3174 40 384 47 3 385 1748 2
Below cutoff 7 48 4 1 2 1 192 228 62 1 4 5 174

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001272034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_073560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011528212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753741 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF318317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI571535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU098728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ067493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA431480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U63533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000221283   ⟹   ENSP00000221283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,637,110 - 7,647,873 (+)Ensembl
RefSeq Acc Id: ENST00000414284   ⟹   ENSP00000409471
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,637,127 - 7,647,873 (+)Ensembl
RefSeq Acc Id: ENST00000441779   ⟹   ENSP00000413606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,637,113 - 7,647,872 (+)Ensembl
RefSeq Acc Id: ENST00000593535   ⟹   ENSP00000470313
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,636,881 - 7,641,005 (+)Ensembl
RefSeq Acc Id: ENST00000593854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,644,349 - 7,646,438 (+)Ensembl
RefSeq Acc Id: ENST00000594221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,641,830 - 7,643,210 (+)Ensembl
RefSeq Acc Id: ENST00000595181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,637,113 - 7,640,156 (+)Ensembl
RefSeq Acc Id: ENST00000595800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,644,513 - 7,647,872 (+)Ensembl
RefSeq Acc Id: ENST00000595861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,642,246 - 7,643,274 (+)Ensembl
RefSeq Acc Id: ENST00000595950   ⟹   ENSP00000471161
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,637,105 - 7,642,118 (+)Ensembl
RefSeq Acc Id: ENST00000597068   ⟹   ENSP00000471327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,637,122 - 7,647,810 (+)Ensembl
RefSeq Acc Id: ENST00000597467
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,637,105 - 7,639,464 (+)Ensembl
RefSeq Acc Id: ENST00000599278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,647,055 - 7,647,455 (+)Ensembl
RefSeq Acc Id: ENST00000599400   ⟹   ENSP00000473040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,643,215 - 7,647,838 (+)Ensembl
RefSeq Acc Id: ENST00000599558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,644,566 - 7,645,394 (+)Ensembl
RefSeq Acc Id: ENST00000599648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,640,741 - 7,641,913 (+)Ensembl
RefSeq Acc Id: ENST00000599737   ⟹   ENSP00000471585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,638,737 - 7,647,844 (+)Ensembl
RefSeq Acc Id: ENST00000599905
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,637,115 - 7,639,485 (+)Ensembl
RefSeq Acc Id: ENST00000600702   ⟹   ENSP00000471737
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,642,781 - 7,647,873 (+)Ensembl
RefSeq Acc Id: ENST00000601061
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,645,196 - 7,647,873 (+)Ensembl
RefSeq Acc Id: ENST00000602355   ⟹   ENSP00000473406
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,645,959 - 7,647,810 (+)Ensembl
RefSeq Acc Id: ENST00000612033   ⟹   ENSP00000478797
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl197,639,841 - 7,641,201 (+)Ensembl
RefSeq Acc Id: NM_001127396   ⟹   NP_001120868
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,637,110 - 7,647,873 (+)NCBI
GRCh37197,701,987 - 7,712,760 (+)NCBI
HuRef197,371,707 - 7,382,556 (+)NCBI
CHM1_1197,701,738 - 7,712,511 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001272034   ⟹   NP_001258963
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,637,110 - 7,647,873 (+)NCBI
GRCh37197,701,987 - 7,712,760 (+)NCBI
HuRef197,371,707 - 7,382,556 (+)NCBI
CHM1_1197,701,738 - 7,712,511 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006949   ⟹   NP_008880
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,637,110 - 7,647,873 (+)NCBI
GRCh37197,701,987 - 7,712,760 (+)NCBI
Build 36197,608,011 - 7,618,707 (+)NCBI Archive
HuRef197,371,707 - 7,382,556 (+)NCBI
CHM1_1197,701,738 - 7,712,511 (+)NCBI
Sequence:
RefSeq Acc Id: NR_073560
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,637,110 - 7,647,873 (+)NCBI
GRCh37197,701,987 - 7,712,760 (+)NCBI
HuRef197,371,707 - 7,382,556 (+)NCBI
CHM1_1197,701,738 - 7,712,511 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528210   ⟹   XP_011526512
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,637,112 - 7,646,242 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011528212   ⟹   XP_011526514
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,637,112 - 7,645,142 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001753741
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,637,112 - 7,647,247 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_008880   ⟸   NM_006949
- Peptide Label: isoform a
- UniProtKB: Q15833 (UniProtKB/Swiss-Prot),   Q53GF4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001120868   ⟸   NM_001127396
- Peptide Label: isoform b
- UniProtKB: Q15833 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001258963   ⟸   NM_001272034
- Peptide Label: isoform c
- UniProtKB: Q15833 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011526512   ⟸   XM_011528210
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011526514   ⟸   XM_011528212
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000471161   ⟸   ENST00000595950
RefSeq Acc Id: ENSP00000471327   ⟸   ENST00000597068
RefSeq Acc Id: ENSP00000409471   ⟸   ENST00000414284
RefSeq Acc Id: ENSP00000473040   ⟸   ENST00000599400
RefSeq Acc Id: ENSP00000471585   ⟸   ENST00000599737
RefSeq Acc Id: ENSP00000478797   ⟸   ENST00000612033
RefSeq Acc Id: ENSP00000413606   ⟸   ENST00000441779
RefSeq Acc Id: ENSP00000471737   ⟸   ENST00000600702
RefSeq Acc Id: ENSP00000473406   ⟸   ENST00000602355
RefSeq Acc Id: ENSP00000221283   ⟸   ENST00000221283
RefSeq Acc Id: ENSP00000470313   ⟸   ENST00000593535

Promoters
RGD ID:6796072
Promoter ID:HG_KWN:28720
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001127396,   NM_006949,   UC010DVJ.1,   UC010DVK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36197,607,796 - 7,608,296 (+)MPROMDB
RGD ID:7238307
Promoter ID:EPDNEW_H24899
Type:initiation region
Name:STXBP2_1
Description:syntaxin binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38197,637,121 - 7,637,181EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006949.4(STXBP2):c.169+2T>G single nucleotide variant not provided [RCV000523271] Chr19:7639102 [GRCh38]
Chr19:7703988 [GRCh37]
Chr19:19p13.2
pathogenic
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000024317]|not provided [RCV000519780] Chr19:7647436 [GRCh38]
Chr19:7712322 [GRCh37]
Chr19:19p13.2
pathogenic|likely pathogenic
NM_006949.4(STXBP2):c.1430C>T (p.Pro477Leu) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000008308] Chr19:7646322 [GRCh38]
Chr19:7711208 [GRCh37]
Chr19:19p13.2
pathogenic
NM_006949.4(STXBP2):c.693_695del (p.Ile232del) deletion Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000008309] Chr19:7642231..7642233 [GRCh38]
Chr19:7707117..7707119 [GRCh37]
Chr19:19p13.2
pathogenic
STXBP2, IVS14AS, G-C, -1 single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000008310] Chr19:19p13.3-p13.2 pathogenic
NM_006949.4(STXBP2):c.626T>C (p.Leu209Pro) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000008311] Chr19:7642081 [GRCh38]
Chr19:7706967 [GRCh37]
Chr19:19p13.2
pathogenic
NM_006949.4(STXBP2):c.260del (p.Leu87fs) deletion Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000008312] Chr19:7640744 [GRCh38]
Chr19:7705630 [GRCh37]
Chr19:19p13.2
pathogenic
STXBP2, 1-BP DEL, 706G deletion Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000008313] Chr19:19p13.3-p13.2 pathogenic
NM_006949.4(STXBP2):c.1108-10A>G single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000551019] Chr19:7644604 [GRCh38]
Chr19:7709490 [GRCh37]
Chr19:19p13.2
likely benign
GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 copy number gain See cases [RCV000052879] Chr19:1972245..9648879 [GRCh38]
Chr19:1972244..9759555 [GRCh37]
Chr19:1923244..9620555 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:4039158-9176125)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052881]|See cases [RCV000052881] Chr19:4039158..9176125 [GRCh38]
Chr19:4039156..9286801 [GRCh37]
Chr19:3990156..9147801 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2
pathogenic
GRCh38/hg38 19p13.2(chr19:7194917-7827432)x3 copy number gain See cases [RCV000054108] Chr19:7194917..7827432 [GRCh38]
Chr19:7194928..7892318 [GRCh37]
Chr19:7145928..7798318 [NCBI36]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1136G>A (p.Gly379Glu) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001231046] Chr19:7644642 [GRCh38]
Chr19:7709528 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.795-4C>T single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000530674]|not specified [RCV000173826] Chr19:7642425 [GRCh38]
Chr19:7707311 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000533997]|not specified [RCV000174565] Chr19:7643172 [GRCh38]
Chr19:7708058 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000552531]|not specified [RCV000174911] Chr19:7645248 [GRCh38]
Chr19:7710134 [GRCh37]
Chr19:19p13.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006949.4(STXBP2):c.849G>A (p.Glu283=) single nucleotide variant Familial hemophagocytic lymphohistiocytosis [RCV000375641]|Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000560102]|not specified [RCV000248506] Chr19:7642483 [GRCh38]
Chr19:7707369 [GRCh37]
Chr19:19p13.2
benign|uncertain significance
NM_006949.4(STXBP2):c.1590G>A (p.Ala530=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000542558]|not specified [RCV000253378] Chr19:7647405 [GRCh38]
Chr19:7712291 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.816C>T (p.Ser272=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000543288]|not specified [RCV000243954] Chr19:7642450 [GRCh38]
Chr19:7707336 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.1191G>A (p.Ala397=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647342]|not specified [RCV000244064] Chr19:7644697 [GRCh38]
Chr19:7709583 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_006949.4(STXBP2):c.1247-10C>T single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000540043]|not specified [RCV000249033] Chr19:7645187 [GRCh38]
Chr19:7710073 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_006949.4(STXBP2):c.495C>T (p.Arg165=) single nucleotide variant Familial hemophagocytic lymphohistiocytosis [RCV000324162]|Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000529320]|not specified [RCV000246709] Chr19:7641770 [GRCh38]
Chr19:7706656 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647335]|not specified [RCV000251651] Chr19:7638737 [GRCh38]
Chr19:7703623 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_006949.4(STXBP2):c.1356+18A>G single nucleotide variant not specified [RCV000249389] Chr19:7645324 [GRCh38]
Chr19:7710210 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.1026+35G>A single nucleotide variant not specified [RCV000251753] Chr19:7643083 [GRCh38]
Chr19:7707969 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.38-7C>T single nucleotide variant Familial hemophagocytic lymphohistiocytosis [RCV000367298]|not specified [RCV000244568] Chr19:7638719 [GRCh38]
Chr19:7703605 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.*12G>A single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000261409]|not provided [RCV000421472]|not specified [RCV000242223] Chr19:7647822 [GRCh38]
Chr19:7712708 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_006949.4(STXBP2):c.-38del deletion not specified [RCV000247218] Chr19:7637110 [GRCh38]
Chr19:7701996 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1696+20A>G single nucleotide variant not specified [RCV000247283] Chr19:7647531 [GRCh38]
Chr19:7712417 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.1538+10C>T single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647338]|not specified [RCV000245154] Chr19:7647257 [GRCh38]
Chr19:7712143 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_006949.4(STXBP2):c.1108-46T>C single nucleotide variant not specified [RCV000247516] Chr19:7644568 [GRCh38]
Chr19:7709454 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1167C>T (p.Ile389=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000527604]|not specified [RCV000252474] Chr19:7644673 [GRCh38]
Chr19:7709559 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_006949.4(STXBP2):c.169+12C>T single nucleotide variant not specified [RCV000242709] Chr19:7639112 [GRCh38]
Chr19:7703998 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.38-30A>C single nucleotide variant not specified [RCV000252540] Chr19:7638696 [GRCh38]
Chr19:7703582 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.1696+46C>T single nucleotide variant not specified [RCV000243005] Chr19:7647557 [GRCh38]
Chr19:7712443 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.165C>T (p.Ile55=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000967668]|not specified [RCV000245381] Chr19:7639096 [GRCh38]
Chr19:7703982 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_006949.4(STXBP2):c.1539-47G>A single nucleotide variant not specified [RCV000245474] Chr19:7647307 [GRCh38]
Chr19:7712193 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.1247-43T>C single nucleotide variant not specified [RCV000252764] Chr19:7645154 [GRCh38]
Chr19:7710040 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.1697-26T>G single nucleotide variant not specified [RCV000247984] Chr19:7647699 [GRCh38]
Chr19:7712585 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val) single nucleotide variant Familial hemophagocytic lymphohistiocytosis [RCV000308412]|Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000603628]|not specified [RCV000250426] Chr19:7647391 [GRCh38]
Chr19:7712277 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.609C>T (p.His203=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000546219]|not specified [RCV000243229] Chr19:7642064 [GRCh38]
Chr19:7706950 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_006949.4(STXBP2):c.1538+17G>A single nucleotide variant not specified [RCV000248081] Chr19:7647264 [GRCh38]
Chr19:7712150 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.663+10C>T single nucleotide variant not specified [RCV000248218] Chr19:7642128 [GRCh38]
Chr19:7707014 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1696+28G>C single nucleotide variant not specified [RCV000250624] Chr19:7647539 [GRCh38]
Chr19:7712425 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.1538+28C>T single nucleotide variant not specified [RCV000253055] Chr19:7647275 [GRCh38]
Chr19:7712161 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.1663A>G (p.Arg555Gly) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000553193]|not specified [RCV000250735] Chr19:7647478 [GRCh38]
Chr19:7712364 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.1443T>C (p.Asp481=) single nucleotide variant Familial hemophagocytic lymphohistiocytosis [RCV000311684]|not specified [RCV000253160] Chr19:7646335 [GRCh38]
Chr19:7711221 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly) single nucleotide variant Familial hemophagocytic lymphohistiocytosis [RCV000281145]|Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000927651] Chr19:7642777 [GRCh38]
Chr19:7707663 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_006949.4(STXBP2):c.333C>T (p.Pro111=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000881033] Chr19:7640907 [GRCh38]
Chr19:7705793 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006949.4(STXBP2):c.1671C>T (p.Thr557=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000938667] Chr19:7647486 [GRCh38]
Chr19:7712372 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) single nucleotide variant Abnormal bleeding [RCV001270501]|Familial hemophagocytic lymphohistiocytosis [RCV000363044]|Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000529971] Chr19:7647401 [GRCh38]
Chr19:7712287 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001086029]|not provided [RCV000344569] Chr19:7647384 [GRCh38]
Chr19:7712270 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006949.4(STXBP2):c.1455C>T (p.Asp485=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000554097] Chr19:7647164 [GRCh38]
Chr19:7712050 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006949.4(STXBP2):c.145G>C (p.Asp49His) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000272735] Chr19:7639076 [GRCh38]
Chr19:7703962 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1723C>T (p.Arg575Cys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000320237] Chr19:7647751 [GRCh38]
Chr19:7712637 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.808G>A (p.Gly270Arg) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000320628] Chr19:7642442 [GRCh38]
Chr19:7707328 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.358C>T (p.Arg120Cys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647329]|not provided [RCV000386108] Chr19:7640932 [GRCh38]
Chr19:7705818 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.613G>A (p.Val205Ile) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001083601]|not provided [RCV000514754] Chr19:7642068 [GRCh38]
Chr19:7706954 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_006949.4(STXBP2):c.1188G>A (p.Ala396=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000816956]|not provided [RCV000389883] Chr19:7644694 [GRCh38]
Chr19:7709580 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1375C>T (p.Arg459Trp) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000406902] Chr19:7646267 [GRCh38]
Chr19:7711153 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_006949.4(STXBP2):c.1027-10C>T single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000918719] Chr19:7643155 [GRCh38]
Chr19:7708041 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006949.4(STXBP2):c.1134G>A (p.Glu378=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000400161] Chr19:7644640 [GRCh38]
Chr19:7709526 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1394G>A (p.Arg465His) single nucleotide variant not provided [RCV000261697] Chr19:7646286 [GRCh38]
Chr19:7711172 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1672G>A (p.Glu558Lys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000685168] Chr19:7647487 [GRCh38]
Chr19:7712373 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1247-1G>C single nucleotide variant Familial hemophagocytic lymphohistiocytosis [RCV000351372]|Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000700702]|not provided [RCV001267959] Chr19:7645196 [GRCh38]
Chr19:7710082 [GRCh37]
Chr19:19p13.2
pathogenic
NM_006949.4(STXBP2):c.1459G>T (p.Val487Leu) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000704407] Chr19:7647168 [GRCh38]
Chr19:7712054 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1616T>C (p.Met539Thr) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000268499] Chr19:7647431 [GRCh38]
Chr19:7712317 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1620C>T (p.Gly540=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000304975]|not provided [RCV000978755] Chr19:7647435 [GRCh38]
Chr19:7712321 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_006949.4(STXBP2):c.321C>T (p.Thr107=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000363731] Chr19:7640805 [GRCh38]
Chr19:7705691 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.*7G>T single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000372530] Chr19:7647817 [GRCh38]
Chr19:7712703 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.14G>A (p.Gly5Glu) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000312580] Chr19:7637163 [GRCh38]
Chr19:7702049 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.270C>T (p.Asp90=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000327779] Chr19:7640754 [GRCh38]
Chr19:7705640 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.578+11dup duplication Familial hemophagocytic lymphohistiocytosis [RCV000378767] Chr19:7641860..7641861 [GRCh38]
Chr19:7706746..7706747 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1354G>A (p.Gly452Arg) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000804242]|not provided [RCV000730684] Chr19:7645304 [GRCh38]
Chr19:7710190 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1197C>T (p.Pro399=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001079084]|not provided [RCV000728503] Chr19:7644703 [GRCh38]
Chr19:7709589 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006949.4(STXBP2):c.37+7G>T single nucleotide variant not provided [RCV000733920] Chr19:7637193 [GRCh38]
Chr19:7702079 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1361C>T (p.Ser454Leu) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000528618] Chr19:7646253 [GRCh38]
Chr19:7711139 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.743C>T (p.Thr248Met) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001063092]|not provided [RCV000727992] Chr19:7642282 [GRCh38]
Chr19:7707168 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000477888]|not provided [RCV000658815] Chr19:7641843 [GRCh38]
Chr19:7706729 [GRCh37]
Chr19:19p13.2
conflicting interpretations of pathogenicity|uncertain significance
NM_174895.3(PCP2):c.24G>A (p.Thr8=) single nucleotide variant not specified [RCV000455543] Chr19:7633434 [GRCh38]
Chr19:7698320 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000960504]|not specified [RCV000502479] Chr19:7641772 [GRCh38]
Chr19:7706658 [GRCh37]
Chr19:19p13.2
benign|likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647328] Chr19:7644720 [GRCh38]
Chr19:7709606 [GRCh37]
Chr19:19p13.2
pathogenic
NM_006949.4(STXBP2):c.285G>A (p.Pro95=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647336] Chr19:7640769 [GRCh38]
Chr19:7705655 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1539-5C>A single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647337] Chr19:7647349 [GRCh38]
Chr19:7712235 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.312C>T (p.Ile104=) single nucleotide variant not provided [RCV000647339] Chr19:7640796 [GRCh38]
Chr19:7705682 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.408C>T (p.Ala136=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647340] Chr19:7640982 [GRCh38]
Chr19:7705868 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.747C>T (p.Phe249=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647341] Chr19:7642286 [GRCh38]
Chr19:7707172 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1453-9G>A single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000541503] Chr19:7647153 [GRCh38]
Chr19:7712039 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1420C>T (p.Arg474Cys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647323] Chr19:7646312 [GRCh38]
Chr19:7711198 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1286C>T (p.Ala429Val) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647324]|not provided [RCV000734387] Chr19:7645236 [GRCh38]
Chr19:7710122 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.680G>A (p.Arg227His) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647325] Chr19:7642219 [GRCh38]
Chr19:7707105 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1610A>G (p.Tyr537Cys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647326] Chr19:7647425 [GRCh38]
Chr19:7712311 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.167C>T (p.Thr56Ile) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647327] Chr19:7639098 [GRCh38]
Chr19:7703984 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1393C>T (p.Arg465Cys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647330] Chr19:7646285 [GRCh38]
Chr19:7711171 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.212_213del (p.Leu71fs) deletion Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647331] Chr19:7639773..7639774 [GRCh38]
Chr19:7704659..7704660 [GRCh37]
Chr19:19p13.2
pathogenic
NM_006949.4(STXBP2):c.365G>A (p.Arg122His) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647332] Chr19:7640939 [GRCh38]
Chr19:7705825 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.988C>T (p.Leu330=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000647333] Chr19:7643010 [GRCh38]
Chr19:7707896 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.134del (p.Cys45fs) deletion Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000684854] Chr19:7639065 [GRCh38]
Chr19:7703951 [GRCh37]
Chr19:19p13.2
pathogenic
NM_006949.4(STXBP2):c.1198_1199insGGCCCG (p.Ala400_Tyr401insGlyPro) insertion Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000714835] Chr19:7644699..7644700 [GRCh38]
Chr19:7709585..7709586 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1648G>A (p.Ala550Thr) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000685090] Chr19:7647463 [GRCh38]
Chr19:7712349 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3 copy number gain not provided [RCV000684096] Chr19:3120160..9732820 [GRCh37]
Chr19:19p13.3-13.2
pathogenic
NM_006949.4(STXBP2):c.1396A>T (p.Met466Leu) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000687268] Chr19:7646288 [GRCh38]
Chr19:7711174 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.661G>A (p.Glu221Lys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000688038] Chr19:7642116 [GRCh38]
Chr19:7707002 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.784G>A (p.Asp262Asn) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000705154] Chr19:7642323 [GRCh38]
Chr19:7707209 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000703150] Chr19:7640963 [GRCh38]
Chr19:7705849 [GRCh37]
Chr19:19p13.2
uncertain significance
NC_000019.9:g.(?_7702016)_(7712716_?)dup duplication Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000708521] Chr19:7637130..7647830 [GRCh38]
Chr19:7702016..7712716 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_006949.4(STXBP2):c.1002G>A (p.Pro334=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000937702] Chr19:7643024 [GRCh38]
Chr19:7707910 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.561G>A (p.Pro187=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000914037] Chr19:7641836 [GRCh38]
Chr19:7706722 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.789A>G (p.Thr263=) single nucleotide variant not provided [RCV000982737] Chr19:7642328 [GRCh38]
Chr19:7707214 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.820G>T (p.Ala274Ser) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000892019] Chr19:7642454 [GRCh38]
Chr19:7707340 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.387G>A (p.Thr129=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000883280] Chr19:7640961 [GRCh38]
Chr19:7705847 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1386G>A (p.Pro462=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000982599] Chr19:7646278 [GRCh38]
Chr19:7711164 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1299G>A (p.Ala433=) single nucleotide variant not provided [RCV000943463] Chr19:7645249 [GRCh38]
Chr19:7710135 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1128C>T (p.Asp376=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000904684] Chr19:7644634 [GRCh38]
Chr19:7709520 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1026+9G>A single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000920101] Chr19:7643057 [GRCh38]
Chr19:7707943 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1080G>A (p.Ser360=) single nucleotide variant not provided [RCV000929046] Chr19:7643218 [GRCh38]
Chr19:7708104 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1452+10G>A single nucleotide variant not provided [RCV000927352] Chr19:7646354 [GRCh38]
Chr19:7711240 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.717C>T (p.Pro239=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000900291] Chr19:7642256 [GRCh38]
Chr19:7707142 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.420C>T (p.Tyr140=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000904088] Chr19:7640994 [GRCh38]
Chr19:7705880 [GRCh37]
Chr19:19p13.2
benign|likely benign
NM_006949.4(STXBP2):c.1495G>A (p.Val499Ile) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001037139] Chr19:7647204 [GRCh38]
Chr19:7712090 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.569G>A (p.Arg190His) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001035378] Chr19:7641844 [GRCh38]
Chr19:7706730 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.279G>T (p.Gly93=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001049742] Chr19:7640763 [GRCh38]
Chr19:7705649 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1772C>A (p.Ala591Asp) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001050071] Chr19:7647800 [GRCh38]
Chr19:7712686 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.503A>G (p.Gln168Arg) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001059678] Chr19:7641778 [GRCh38]
Chr19:7706664 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1742A>G (p.Lys581Arg) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001048365] Chr19:7647770 [GRCh38]
Chr19:7712656 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.499C>T (p.Arg167Trp) single nucleotide variant Abnormal bleeding [RCV001270552]|Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001048716] Chr19:7641774 [GRCh38]
Chr19:7706660 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1452+7G>T single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000936394] Chr19:7646351 [GRCh38]
Chr19:7711237 [GRCh37]
Chr19:19p13.2
likely benign|conflicting interpretations of pathogenicity
NM_006949.4(STXBP2):c.275A>T (p.Gln92Leu) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001038282] Chr19:7640759 [GRCh38]
Chr19:7705645 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1219C>T (p.Leu407=) single nucleotide variant not provided [RCV000924969] Chr19:7644725 [GRCh38]
Chr19:7709611 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.294C>T (p.Thr98=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000981518] Chr19:7640778 [GRCh38]
Chr19:7705664 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.953C>T (p.Thr318Met) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000904295] Chr19:7642816 [GRCh38]
Chr19:7707702 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.981C>A (p.Ser327=) single nucleotide variant not provided [RCV000920670] Chr19:7643003 [GRCh38]
Chr19:7707889 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1692C>T (p.Leu564=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000936866] Chr19:7647507 [GRCh38]
Chr19:7712393 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1230C>T (p.Tyr410=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001136224]|not provided [RCV000939587] Chr19:7644736 [GRCh38]
Chr19:7709622 [GRCh37]
Chr19:19p13.2
likely benign|uncertain significance
NM_006949.4(STXBP2):c.1353C>T (p.Pro451=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000904911] Chr19:7645303 [GRCh38]
Chr19:7710189 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.325+9G>A single nucleotide variant not provided [RCV000919670] Chr19:7640818 [GRCh38]
Chr19:7705704 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.240G>A (p.Thr80=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000817226] Chr19:7639801 [GRCh38]
Chr19:7704687 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1459G>A (p.Val487Met) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000892632] Chr19:7647168 [GRCh38]
Chr19:7712054 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000793904] Chr19:7639755 [GRCh38]
Chr19:7704641 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1697-9C>T single nucleotide variant not provided [RCV000914063] Chr19:7647716 [GRCh38]
Chr19:7712602 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1598G>A (p.Arg533Gln) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000823700] Chr19:7647413 [GRCh38]
Chr19:7712299 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1376G>A (p.Arg459Gln) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000807776] Chr19:7646268 [GRCh38]
Chr19:7711154 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.249G>A (p.Ser83=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000810722] Chr19:7640733 [GRCh38]
Chr19:7705619 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.579G>T (p.Lys193Asn) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000791945] Chr19:7642034 [GRCh38]
Chr19:7706920 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1620C>A (p.Gly540=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000816948] Chr19:7647435 [GRCh38]
Chr19:7712321 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1514C>G (p.Thr505Arg) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000795560] Chr19:7647223 [GRCh38]
Chr19:7712109 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1169T>C (p.Val390Ala) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000809350] Chr19:7644675 [GRCh38]
Chr19:7709561 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.938G>A (p.Ser313Asn) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000809710] Chr19:7642801 [GRCh38]
Chr19:7707687 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.575G>A (p.Arg192His) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000816445] Chr19:7641850 [GRCh38]
Chr19:7706736 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.403C>T (p.Leu135Phe) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000806556] Chr19:7640977 [GRCh38]
Chr19:7705863 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.5C>T (p.Ala2Val) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000795017] Chr19:7637154 [GRCh38]
Chr19:7702040 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1241G>A (p.Arg414Gln) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000792809] Chr19:7644747 [GRCh38]
Chr19:7709633 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.835G>A (p.Val279Ile) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000802820] Chr19:7642469 [GRCh38]
Chr19:7707355 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1502A>C (p.Asp501Ala) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001131960] Chr19:7647211 [GRCh38]
Chr19:7712097 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.824G>A (p.Arg275Gln) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000810052] Chr19:7642458 [GRCh38]
Chr19:7707344 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1585C>T (p.Arg529Trp) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001046235] Chr19:7647400 [GRCh38]
Chr19:7712286 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.911C>T (p.Thr304Met) single nucleotide variant Abnormal bleeding [RCV001270558]|Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001132828] Chr19:7642774 [GRCh38]
Chr19:7707660 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.169+11G>C single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001136134] Chr19:7639111 [GRCh38]
Chr19:7703997 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.776T>C (p.Ile259Thr) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000807494] Chr19:7642315 [GRCh38]
Chr19:7707201 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.795-14T>G single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001131834] Chr19:7642415 [GRCh38]
Chr19:7707301 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.679C>T (p.Arg227Cys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001131833] Chr19:7642218 [GRCh38]
Chr19:7707104 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1431G>A (p.Pro477=) single nucleotide variant not provided [RCV000981797] Chr19:7646323 [GRCh38]
Chr19:7711209 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.474_483delinsGA (p.Cys158fs) indel Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000820443] Chr19:7641749..7641758 [GRCh38]
Chr19:7706635..7706644 [GRCh37]
Chr19:19p13.2
pathogenic
NM_006949.4(STXBP2):c.1586G>A (p.Arg529Gln) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000814223] Chr19:7647401 [GRCh38]
Chr19:7712287 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1481A>C (p.Asn494Thr) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000814501] Chr19:7647190 [GRCh38]
Chr19:7712076 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1456G>A (p.Ala486Thr) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001131959] Chr19:7647165 [GRCh38]
Chr19:7712051 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1506C>T (p.Pro502=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001131961] Chr19:7647215 [GRCh38]
Chr19:7712101 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1268C>A (p.Ala423Asp) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001066213] Chr19:7645218 [GRCh38]
Chr19:7710104 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.603G>T (p.Leu201Phe) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001129152] Chr19:7642058 [GRCh38]
Chr19:7706944 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1356+13C>T single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001129256] Chr19:7645319 [GRCh38]
Chr19:7710205 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.698T>C (p.Met233Thr) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001045485] Chr19:7642237 [GRCh38]
Chr19:7707123 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1027-3C>T single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001243010] Chr19:7643162 [GRCh38]
Chr19:7708048 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.702C>G (p.Asp234Glu) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001213588] Chr19:7642241 [GRCh38]
Chr19:7707127 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1597C>T (p.Arg533Trp) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001222794] Chr19:7647412 [GRCh38]
Chr19:7712298 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.902+4C>T single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001242551] Chr19:7642540 [GRCh38]
Chr19:7707426 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.939C>A (p.Ser313Arg) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001234876] Chr19:7642802 [GRCh38]
Chr19:7707688 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1135G>T (p.Gly379Trp) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001217896] Chr19:7644641 [GRCh38]
Chr19:7709527 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.187_190del (p.Lys63fs) deletion Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001221186] Chr19:7639745..7639748 [GRCh38]
Chr19:7704631..7704634 [GRCh37]
Chr19:19p13.2
pathogenic
NM_006949.4(STXBP2):c.795-3C>T single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001223540] Chr19:7642426 [GRCh38]
Chr19:7707312 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.514C>G (p.Leu172Val) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001248395] Chr19:7641789 [GRCh38]
Chr19:7706675 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.169+10C>T single nucleotide variant not provided [RCV000927260] Chr19:7639110 [GRCh38]
Chr19:7703996 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1290T>C (p.Asn430=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000918875] Chr19:7645240 [GRCh38]
Chr19:7710126 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.429+3_429+9dup duplication Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000941044] Chr19:7641005..7641006 [GRCh38]
Chr19:7705891..7705892 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.846C>T (p.Asp282=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000970663] Chr19:7642480 [GRCh38]
Chr19:7707366 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.1203C>T (p.Tyr401=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000926387] Chr19:7644709 [GRCh38]
Chr19:7709595 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1452+8G>A single nucleotide variant not provided [RCV000928952] Chr19:7646352 [GRCh38]
Chr19:7711238 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1247-9G>A single nucleotide variant not provided [RCV000921856] Chr19:7645188 [GRCh38]
Chr19:7710074 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1453-5G>A single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000977523] Chr19:7647157 [GRCh38]
Chr19:7712043 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1530C>T (p.Ala510=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000887079] Chr19:7647239 [GRCh38]
Chr19:7712125 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.954G>A (p.Thr318=) single nucleotide variant not provided [RCV000931475] Chr19:7642817 [GRCh38]
Chr19:7707703 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1453-10C>T single nucleotide variant not provided [RCV000894466] Chr19:7647152 [GRCh38]
Chr19:7712038 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1621G>T (p.Gly541Cys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001244298] Chr19:7647436 [GRCh38]
Chr19:7712322 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.664-6C>A single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001231727] Chr19:7642197 [GRCh38]
Chr19:7707083 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1134G>C (p.Glu378Asp) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001242538] Chr19:7644640 [GRCh38]
Chr19:7709526 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.88-8C>G single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001244912] Chr19:7639011 [GRCh38]
Chr19:7703897 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.533C>T (p.Thr178Met) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001243664] Chr19:7641808 [GRCh38]
Chr19:7706694 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.817G>A (p.Glu273Lys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001045271] Chr19:7642451 [GRCh38]
Chr19:7707337 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.847G>A (p.Glu283Lys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001229245] Chr19:7642481 [GRCh38]
Chr19:7707367 [GRCh37]
Chr19:19p13.2
uncertain significance
NC_000019.9:g.(?_7587617)_(8373194_?)dup duplication Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001031629] Chr19:7587617..8373194 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.360C>T (p.Arg120=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000935806] Chr19:7640934 [GRCh38]
Chr19:7705820 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.822G>A (p.Ala274=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000889372] Chr19:7642456 [GRCh38]
Chr19:7707342 [GRCh37]
Chr19:19p13.2
benign
NM_006949.4(STXBP2):c.498G>A (p.Thr166=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000912598] Chr19:7641773 [GRCh38]
Chr19:7706659 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.1458C>T (p.Ala486=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV000913892] Chr19:7647167 [GRCh38]
Chr19:7712053 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.987C>T (p.Ile329=) single nucleotide variant not provided [RCV000936056] Chr19:7643009 [GRCh38]
Chr19:7707895 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.795-10T>A single nucleotide variant not provided [RCV000912062] Chr19:7642419 [GRCh38]
Chr19:7707305 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.759G>A (p.Ala253=) single nucleotide variant not provided [RCV000912408] Chr19:7642298 [GRCh38]
Chr19:7707184 [GRCh37]
Chr19:19p13.2
likely benign
NM_006949.4(STXBP2):c.87+3del deletion Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001067726] Chr19:7638778 [GRCh38]
Chr19:7703664 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.649C>T (p.Pro217Ser) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001047923] Chr19:7642104 [GRCh38]
Chr19:7706990 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1718C>T (p.Pro573Leu) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001045702] Chr19:7647746 [GRCh38]
Chr19:7712632 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1443_1444inv (p.Val482Ile) inversion Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001248732] Chr19:7646335..7646336 [GRCh38]
Chr19:7711221..7711222 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.610G>A (p.Ala204Thr) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001056448] Chr19:7642065 [GRCh38]
Chr19:7706951 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1339_1340insAAA (p.Thr447_Val448insLys) insertion Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001071948] Chr19:7645288..7645289 [GRCh38]
Chr19:7710174..7710175 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1362G>A (p.Ser454=) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001129257] Chr19:7646254 [GRCh38]
Chr19:7711140 [GRCh37]
Chr19:19p13.2
uncertain significance
GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3 copy number gain not provided [RCV001007030] Chr19:7657490..8569762 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.658G>A (p.Gly220Ser) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001230917] Chr19:7642113 [GRCh38]
Chr19:7706999 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1026+3G>A single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001203329] Chr19:7643051 [GRCh38]
Chr19:7707937 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.178G>A (p.Asp60Asn) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001215637] Chr19:7639739 [GRCh38]
Chr19:7704625 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.631G>A (p.Ala211Thr) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001059621] Chr19:7642086 [GRCh38]
Chr19:7706972 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.500G>C (p.Arg167Pro) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001053829] Chr19:7641775 [GRCh38]
Chr19:7706661 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.766_768CTG[1] (p.Leu257del) microsatellite Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001064101] Chr19:7642305..7642307 [GRCh38]
Chr19:7707191..7707193 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1204G>A (p.Asp402Asn) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001064143] Chr19:7644710 [GRCh38]
Chr19:7709596 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.869A>G (p.Glu290Gly) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001039958] Chr19:7642503 [GRCh38]
Chr19:7707389 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1156A>C (p.Met386Leu) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001064356] Chr19:7644662 [GRCh38]
Chr19:7709548 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1453-6C>T single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001131958] Chr19:7647156 [GRCh38]
Chr19:7712042 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1027-11G>C single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001132829] Chr19:7643154 [GRCh38]
Chr19:7708040 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001056642] Chr19:7643023 [GRCh38]
Chr19:7707909 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.247-2A>C single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001063093] Chr19:7640729 [GRCh38]
Chr19:7705615 [GRCh37]
Chr19:19p13.2
likely pathogenic
NM_006949.4(STXBP2):c.1370C>G (p.Ser457Cys) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001048962] Chr19:7646262 [GRCh38]
Chr19:7711148 [GRCh37]
Chr19:19p13.2
uncertain significance
NM_006949.4(STXBP2):c.220A>T (p.Ile74Phe) single nucleotide variant Hemophagocytic lymphohistiocytosis, familial, 5 [RCV001267797] Chr19:7639781 [GRCh38]
Chr19:7704667 [GRCh37]
Chr19:19p13.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11445 AgrOrtholog
COSMIC STXBP2 COSMIC
Ensembl Genes ENSG00000076944 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000221283 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000409471 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000413606 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000470313 UniProtKB/TrEMBL
  ENSP00000471161 UniProtKB/TrEMBL
  ENSP00000471327 UniProtKB/TrEMBL
  ENSP00000471585 UniProtKB/TrEMBL
  ENSP00000471737 UniProtKB/TrEMBL
  ENSP00000473040 UniProtKB/TrEMBL
  ENSP00000473406 UniProtKB/TrEMBL
  ENSP00000478797 UniProtKB/TrEMBL
Ensembl Transcript ENST00000221283 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000414284 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000441779 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000593535 UniProtKB/TrEMBL
  ENST00000595950 UniProtKB/TrEMBL
  ENST00000597068 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000599400 UniProtKB/TrEMBL
  ENST00000599737 UniProtKB/TrEMBL
  ENST00000600702 UniProtKB/TrEMBL
  ENST00000602355 UniProtKB/TrEMBL
  ENST00000612033 UniProtKB/TrEMBL
Gene3D-CATH 3.40.50.1910 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.50.2060 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.830.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000076944 GTEx
HGNC ID HGNC:11445 ENTREZGENE
Human Proteome Map STXBP2 Human Proteome Map
InterPro Sec-1-like_dom1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec-1-like_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec-1-like_dom3a UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec1-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sec1-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6813 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6813 ENTREZGENE
OMIM 601717 OMIM
  613101 OMIM
PANTHER PTHR11679 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sec1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36242 PharmGKB
PIRSF VPS45_Sec1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56815 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WUN8_HUMAN UniProtKB/TrEMBL
  M0QZ54_HUMAN UniProtKB/TrEMBL
  M0R0D4_HUMAN UniProtKB/TrEMBL
  M0R0M7_HUMAN UniProtKB/TrEMBL
  M0R118_HUMAN UniProtKB/TrEMBL
  M0R1A1_HUMAN UniProtKB/TrEMBL
  M0R376_HUMAN UniProtKB/TrEMBL
  Q15833 ENTREZGENE
  Q53GF4 ENTREZGENE, UniProtKB/TrEMBL
  R4GMY7_HUMAN UniProtKB/TrEMBL
  STXB2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B4E175 UniProtKB/Swiss-Prot
  E7EQD5 UniProtKB/Swiss-Prot
  Q9BU65 UniProtKB/Swiss-Prot