SH2D1A (SH2 domain containing 1A) - Rat Genome Database

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Gene: SH2D1A (SH2 domain containing 1A) Homo sapiens
Analyze
Symbol: SH2D1A
Name: SH2 domain containing 1A
RGD ID: 1346207
HGNC Page HGNC
Description: Involved in negative regulation of T cell receptor signaling pathway. Localizes to cytoplasm. Implicated in X-linked lymphoproliferative syndrome 1.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DSHP; Duncan disease SH2-protein; EBVS; FLJ18687; FLJ92177; IMD5; LYP; MTCP1; SAP; SAP/SH2D1A; SH2 domain-containing protein 1A; signaling lymphocyte activation molecule-associated protein; signaling lymphocytic activation molecule-associated protein; SLAM associated protein/SH2 domain protein 1A; SLAM-associated protein; T cell signal transduction molecule SAP; T-cell signal transduction molecule SAP; XLP; XLPD; XLPD1
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 EnsemblX124,227,868 - 124,373,197 (+)EnsemblGRCh38hg38GRCh38
GRCh38X124,346,563 - 124,373,160 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X123,480,413 - 123,507,010 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X123,307,831 - 123,334,686 (+)NCBINCBI36hg18NCBI36
Build 34X123,205,728 - 123,232,540NCBI
CeleraX123,864,695 - 123,891,574 (+)NCBI
Cytogenetic MapXq25NCBI
HuRefX112,860,780 - 112,888,184 (+)NCBIHuRef
CHM1_1X123,391,547 - 123,418,040 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA)
cytosol  (TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8361760   PMID:8387453   PMID:9235954   PMID:9771704   PMID:9774102   PMID:9811875   PMID:9856458   PMID:10089404   PMID:10358138   PMID:10549287   PMID:10607564   PMID:10852966  
PMID:11034354   PMID:11049992   PMID:11054674   PMID:11159547   PMID:11282995   PMID:11313386   PMID:11389028   PMID:11477068   PMID:11477403   PMID:11489943   PMID:11493483   PMID:11803050  
PMID:11806999   PMID:11815622   PMID:11823424   PMID:12008045   PMID:12115647   PMID:12152986   PMID:12225753   PMID:12356686   PMID:12458214   PMID:12477932   PMID:12545174   PMID:12594824  
PMID:12621057   PMID:12766168   PMID:12928397   PMID:12951057   PMID:14523387   PMID:14674764   PMID:14707094   PMID:14726378   PMID:15096483   PMID:15169881   PMID:15195244   PMID:15315965  
PMID:15320910   PMID:15356108   PMID:15378026   PMID:15489334   PMID:15661039   PMID:15677558   PMID:15711562   PMID:15722257   PMID:15738056   PMID:15772651   PMID:16002423   PMID:16223723  
PMID:16273093   PMID:16344560   PMID:16920955   PMID:16983070   PMID:17171759   PMID:17289546   PMID:17455312   PMID:17620557   PMID:17643931   PMID:17692919   PMID:17785286   PMID:17922402  
PMID:18000860   PMID:18024409   PMID:18031694   PMID:18051214   PMID:18212118   PMID:18479751   PMID:18587224   PMID:18662772   PMID:18832568   PMID:18951976   PMID:19079134   PMID:19150402  
PMID:19322201   PMID:19570996   PMID:19759517   PMID:19859091   PMID:20231852   PMID:20301580   PMID:20926771   PMID:20975587   PMID:21091715   PMID:21119115   PMID:21420681   PMID:21674762  
PMID:22048771   PMID:22069374   PMID:22271700   PMID:22425739   PMID:22438812   PMID:22912825   PMID:22973453   PMID:23165210   PMID:23346089   PMID:23503679   PMID:23554038   PMID:23589280  
PMID:24373350   PMID:24388971   PMID:24642916   PMID:24659462   PMID:24688028   PMID:24723092   PMID:24728074   PMID:24770789   PMID:24985396   PMID:25416956   PMID:25491288   PMID:25814554  
PMID:25910212   PMID:25982576   PMID:26221972   PMID:26433589   PMID:26682754   PMID:26878112   PMID:27183584   PMID:28546549   PMID:28816794   PMID:28827385   PMID:28904129   PMID:29083052  
PMID:29649976   PMID:30233082   PMID:31144249   PMID:31415280   PMID:31758261   PMID:31951638   PMID:31994322   PMID:32296183   PMID:32504780   PMID:32814053  


Genomics

Comparative Map Data
SH2D1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX124,227,868 - 124,373,197 (+)EnsemblGRCh38hg38GRCh38
GRCh38X124,346,563 - 124,373,160 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X123,480,413 - 123,507,010 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X123,307,831 - 123,334,686 (+)NCBINCBI36hg18NCBI36
Build 34X123,205,728 - 123,232,540NCBI
CeleraX123,864,695 - 123,891,574 (+)NCBI
Cytogenetic MapXq25NCBI
HuRefX112,860,780 - 112,888,184 (+)NCBIHuRef
CHM1_1X123,391,547 - 123,418,040 (+)NCBICHM1_1
Sh2d1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X41,591,442 - 41,610,974 (+)NCBIGRCm39mm39
GRCm39 EnsemblX41,591,330 - 41,618,207 (+)Ensembl
GRCm38X42,502,565 - 42,522,097 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX42,502,453 - 42,529,330 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X39,855,785 - 39,875,252 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X38,747,235 - 38,766,702 (+)NCBImm8
CeleraX30,076,629 - 30,095,977 (+)NCBICelera
Cytogenetic MapXA4NCBI
Sh2d1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X121,373,693 - 121,401,923 (+)NCBI
Rnor_6.0 EnsemblX128,897,181 - 128,925,407 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X128,897,053 - 128,925,408 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X128,978,818 - 129,007,045 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X2,532,295 - 2,560,524 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX120,486,695 - 120,514,918 (+)NCBICelera
Cytogenetic MapXq35NCBI
Sh2d1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547310,346,943 - 10,370,575 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547310,345,407 - 10,370,535 (-)NCBIChiLan1.0ChiLan1.0
SH2D1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X123,712,932 - 123,739,424 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX123,712,932 - 123,739,419 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X113,538,321 - 113,565,468 (+)NCBIMhudiblu_PPA_v0panPan3
SH2D1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X95,739,568 - 95,762,117 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX95,739,669 - 95,760,698 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX81,806,674 - 81,829,216 (+)NCBI
ROS_Cfam_1.0X97,524,200 - 97,546,969 (+)NCBI
UMICH_Zoey_3.1X94,955,406 - 94,977,948 (+)NCBI
UNSW_CanFamBas_1.0X96,711,780 - 96,734,289 (+)NCBI
UU_Cfam_GSD_1.0X96,501,732 - 96,524,277 (+)NCBI
Sh2d1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X94,705,939 - 94,728,897 (+)NCBI
SpeTri2.0NW_0049364796,258,953 - 6,281,552 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SH2D1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX101,824,367 - 101,849,674 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X101,824,602 - 101,847,265 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X116,692,706 - 116,715,387 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SH2D1A
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Sh2d1a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247973,120,123 - 3,142,564 (+)NCBI

Position Markers
RH93240  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X123,506,631 - 123,506,753UniSTSGRCh37
Build 36X123,334,312 - 123,334,434RGDNCBI36
CeleraX123,891,195 - 123,891,317RGD
Cytogenetic MapXq25UniSTS
HuRefX112,887,805 - 112,887,927UniSTS
GeneMap99-GB4 RH MapX299.8UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:857
Count of miRNA genes:510
Interacting mature miRNAs:558
Transcripts:ENST00000360027, ENST00000371139, ENST00000477673, ENST00000491950, ENST00000494073
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 118 170 28 6 396 7 7 99 1 9 11 81 14
Low 1297 1105 793 349 1112 291 1253 660 718 191 489 1027 57 876 646 1 1
Below cutoff 891 1535 846 245 250 140 2718 1187 2737 155 790 287 107 313 1918 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_033796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA190204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB586694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF072930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF073019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF100543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL022718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP432686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA007747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GM741641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB441350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX512646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX512647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JX512648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000360027   ⟹   ENSP00000353126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX124,346,525 - 124,371,488 (+)Ensembl
RefSeq Acc Id: ENST00000371139   ⟹   ENSP00000360181
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX124,346,563 - 124,373,160 (+)Ensembl
RefSeq Acc Id: ENST00000477673   ⟹   ENSP00000477094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX124,346,589 - 124,371,488 (+)Ensembl
RefSeq Acc Id: ENST00000491950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX124,346,589 - 124,371,488 (+)Ensembl
RefSeq Acc Id: ENST00000494073
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX124,346,589 - 124,371,488 (+)Ensembl
RefSeq Acc Id: ENST00000635645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX124,227,868 - 124,373,197 (+)Ensembl
RefSeq Acc Id: ENST00000647259   ⟹   ENSP00000494582
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX124,346,391 - 124,372,845 (+)Ensembl
RefSeq Acc Id: NM_001114937   ⟹   NP_001108409
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,346,563 - 124,373,160 (+)NCBI
GRCh37X123,480,132 - 123,507,010 (+)ENTREZGENE
HuRefX112,860,780 - 112,888,184 (+)ENTREZGENE
CHM1_1X123,391,547 - 123,418,040 (+)NCBI
Sequence:
RefSeq Acc Id: NM_002351   ⟹   NP_002342
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,346,563 - 124,373,160 (+)NCBI
GRCh37X123,480,132 - 123,507,010 (+)ENTREZGENE
Build 36X123,307,831 - 123,334,686 (+)NCBI Archive
HuRefX112,860,780 - 112,888,184 (+)ENTREZGENE
CHM1_1X123,391,547 - 123,418,040 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002342   ⟸   NM_002351
- Peptide Label: isoform 1
- UniProtKB: O60880 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001108409   ⟸   NM_001114937
- Peptide Label: isoform 2
- UniProtKB: O60880 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000477094   ⟸   ENST00000477673
RefSeq Acc Id: ENSP00000360181   ⟸   ENST00000371139
RefSeq Acc Id: ENSP00000353126   ⟸   ENST00000360027
RefSeq Acc Id: ENSP00000494582   ⟸   ENST00000647259
Protein Domains
SH2

Promoters
RGD ID:6808761
Promoter ID:HG_KWN:67981
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat
Transcripts:ENST00000394475,   ENST00000394476,   OTTHUMT00000058177,   UC004EUF.2,   UC004EUG.2,   UC004EUH.2,   UC004EUI.2,   UC010NQW.1,   UC010NQX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X123,307,789 - 123,308,289 (+)MPROMDB
RGD ID:13628036
Promoter ID:EPDNEW_H29293
Type:initiation region
Name:SH2D1A_2
Description:SH2 domain containing 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29294  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,346,282 - 124,346,342EPDNEW
RGD ID:13628038
Promoter ID:EPDNEW_H29294
Type:initiation region
Name:SH2D1A_1
Description:SH2 domain containing 1A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29293  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X124,346,563 - 124,346,623EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002351.4(SH2D1A):c.163C>T (p.Arg55Ter) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000011645]|X-Linked Lymphoproliferative Syndrome [RCV001270156]|not provided [RCV001091713] ChrX:124365786 [GRCh38]
ChrX:123499636 [GRCh37]
ChrX:Xq25
pathogenic
NM_002351.4(SH2D1A):c.172C>T (p.Gln58Ter) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000011646] ChrX:124365795 [GRCh38]
ChrX:123499645 [GRCh37]
ChrX:Xq25
pathogenic
SH2D1A, 159-BP DEL deletion Lymphoproliferative syndrome 1, X-linked [RCV000011647] ChrX:Xq25 pathogenic
NM_002351.4(SH2D1A):c.95G>C (p.Arg32Thr) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000011648] ChrX:124346737 [GRCh38]
ChrX:123480587 [GRCh37]
ChrX:Xq25
pathogenic
NM_002351.4(SH2D1A):c.138-1G>T single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000011649] ChrX:124365760 [GRCh38]
ChrX:123499610 [GRCh37]
ChrX:Xq25
pathogenic
NM_002351.4(SH2D1A):c.385T>A (p.Ter129Arg) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000011650] ChrX:124371389 [GRCh38]
ChrX:123505239 [GRCh37]
ChrX:Xq25
pathogenic
NM_002351.4(SH2D1A):c.302C>T (p.Pro101Leu) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000011651] ChrX:124370276 [GRCh38]
ChrX:123504126 [GRCh37]
ChrX:Xq25
pathogenic
NM_002351.4(SH2D1A):c.203C>T (p.Thr68Ile) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000011652] ChrX:124370177 [GRCh38]
ChrX:123504027 [GRCh37]
ChrX:Xq25
pathogenic
NM_002351.4(SH2D1A):c.-10C>T single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000011653] ChrX:124346633 [GRCh38]
ChrX:123480483 [GRCh37]
ChrX:Xq25
pathogenic
SH2D1A, EX1DEL deletion Lymphoproliferative syndrome 1, X-linked [RCV000011654] ChrX:Xq25 pathogenic
NM_002351.4(SH2D1A):c.3G>T (p.Met1Ile) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000011655] ChrX:124346645 [GRCh38]
ChrX:123480495 [GRCh37]
ChrX:Xq25
pathogenic
SH2D1A, 163C-T single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000011656] ChrX:Xq25 pathogenic
NM_002351.4(SH2D1A):c.164G>T (p.Arg55Leu) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000011657] ChrX:124365787 [GRCh38]
ChrX:123499637 [GRCh37]
ChrX:Xq25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002351.4(SH2D1A):c.192G>A (p.Trp64Ter) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000660265] ChrX:124365815 [GRCh38]
ChrX:123499665 [GRCh37]
ChrX:Xq25
pathogenic
NM_002351.4(SH2D1A):c.385T>C (p.Ter129Arg) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000660266] ChrX:124371389 [GRCh38]
ChrX:123505239 [GRCh37]
ChrX:Xq25
likely pathogenic
NM_002351.4(SH2D1A):c.5A>G (p.Asp2Gly) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000660264]|not provided [RCV000788711] ChrX:124346647 [GRCh38]
ChrX:123480497 [GRCh37]
ChrX:Xq25
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_002351.4(SH2D1A):c.137+5G>C single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000133459] ChrX:124346784 [GRCh38]
ChrX:123480634 [GRCh37]
ChrX:Xq25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq25(chrX:123859097-128717147)x3 copy number gain See cases [RCV000134572] ChrX:123859097..128717147 [GRCh38]
ChrX:122992947..127851125 [GRCh37]
ChrX:122820628..127678806 [NCBI36]
ChrX:Xq25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq25(chrX:123828673-127958010)x3 copy number gain See cases [RCV000141805] ChrX:123828673..127958010 [GRCh38]
ChrX:122962523..127091989 [GRCh37]
ChrX:122790204..126919670 [NCBI36]
ChrX:Xq25
uncertain significance
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq25(chrX:124349141-124910482)x3 copy number gain See cases [RCV000142112] ChrX:124349141..124910482 [GRCh38]
ChrX:123482991..124044331 [GRCh37]
ChrX:123310672..123872012 [NCBI36]
ChrX:Xq25
uncertain significance
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
pathogenic
NM_002351.4(SH2D1A):c.53A>G (p.Lys18Arg) single nucleotide variant not provided [RCV000727009]|not specified [RCV000519469] ChrX:124346695 [GRCh38]
ChrX:123480545 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002351.4(SH2D1A):c.*257A>T single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000280708] ChrX:124371648 [GRCh38]
ChrX:123505498 [GRCh37]
ChrX:Xq25
benign|uncertain significance
NM_002351.4(SH2D1A):c.48C>A (p.Gly16=) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000644911]|not specified [RCV000502200] ChrX:124346690 [GRCh38]
ChrX:123480540 [GRCh37]
ChrX:Xq25
benign|likely benign
NM_002351.4(SH2D1A):c.*1689C>A single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000310189] ChrX:124373080 [GRCh38]
ChrX:123506930 [GRCh37]
ChrX:Xq25
benign|likely benign
NM_002351.4(SH2D1A):c.*866A>G single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000310892] ChrX:124372257 [GRCh38]
ChrX:123506107 [GRCh37]
ChrX:Xq25
benign
NM_002351.4(SH2D1A):c.-247G>A single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000274348] ChrX:124346396 [GRCh38]
ChrX:123480246 [GRCh37]
ChrX:Xq25
benign|uncertain significance
NM_002351.4(SH2D1A):c.-346C>T single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000314167]|not provided [RCV000960468] ChrX:124346297 [GRCh38]
ChrX:123480147 [GRCh37]
ChrX:Xq25
benign
NM_002351.4(SH2D1A):c.*1755G>A single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000362665] ChrX:124373146 [GRCh38]
ChrX:123506996 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.4(SH2D1A):c.-74T>A single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000365081] ChrX:124346569 [GRCh38]
ChrX:123480419 [GRCh37]
ChrX:Xq25
benign|likely benign
NM_002351.4(SH2D1A):c.*759G>C single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000371807] ChrX:124372150 [GRCh38]
ChrX:123506000 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.4(SH2D1A):c.-318G>C single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000371208] ChrX:124346325 [GRCh38]
ChrX:123480175 [GRCh37]
ChrX:Xq25
benign|likely benign
NM_002351.4(SH2D1A):c.*860T>C single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000279383] ChrX:124372251 [GRCh38]
ChrX:123506101 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.4(SH2D1A):c.*862T>A single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000350702] ChrX:124372253 [GRCh38]
ChrX:123506103 [GRCh37]
ChrX:Xq25
likely benign|uncertain significance
NM_002351.4(SH2D1A):c.*203del deletion Lymphoproliferative syndrome [RCV000324639] ChrX:124371590 [GRCh38]
ChrX:123505440 [GRCh37]
ChrX:Xq25
benign
NM_002351.4(SH2D1A):c.*212G>A single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000376872] ChrX:124371603 [GRCh38]
ChrX:123505453 [GRCh37]
ChrX:Xq25
benign
NM_002351.4(SH2D1A):c.48C>T (p.Gly16=) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001084329]|not provided [RCV000433915]|not specified [RCV000597854] ChrX:124346690 [GRCh38]
ChrX:123480540 [GRCh37]
ChrX:Xq25
benign|likely benign
NM_002351.4(SH2D1A):c.346+3A>G single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000907711] ChrX:124370323 [GRCh38]
ChrX:123504173 [GRCh37]
ChrX:Xq25
benign|likely benign
NM_002351.4(SH2D1A):c.*647G>A single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000338128] ChrX:124372038 [GRCh38]
ChrX:123505888 [GRCh37]
ChrX:Xq25
likely benign|uncertain significance
NM_002351.4(SH2D1A):c.-124T>A single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000312775] ChrX:124346519 [GRCh38]
ChrX:123480369 [GRCh37]
ChrX:Xq25
likely benign|uncertain significance
NM_002351.4(SH2D1A):c.*863T>A single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000398926] ChrX:124372254 [GRCh38]
ChrX:123506104 [GRCh37]
ChrX:Xq25
benign
NM_002351.4(SH2D1A):c.*1321A>G single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000399159] ChrX:124372712 [GRCh38]
ChrX:123506562 [GRCh37]
ChrX:Xq25
benign
NM_002351.4(SH2D1A):c.*1100C>A single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000349448] ChrX:124372491 [GRCh38]
ChrX:123506341 [GRCh37]
ChrX:Xq25
benign|likely benign
NM_002351.4(SH2D1A):c.*51_*52del deletion Lymphoproliferative syndrome [RCV000267024] ChrX:124371442..124371443 [GRCh38]
ChrX:123505292..123505293 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.4(SH2D1A):c.*1773G>A single nucleotide variant Lymphoproliferative syndrome [RCV000314861] ChrX:124373164 [GRCh38]
ChrX:123507014 [GRCh37]
ChrX:Xq25
likely benign
NM_002351.4(SH2D1A):c.150C>A (p.Tyr50Ter) single nucleotide variant Inborn genetic diseases [RCV000624095] ChrX:124365773 [GRCh38]
ChrX:123499623 [GRCh37]
ChrX:Xq25
pathogenic
GRCh37/hg19 Xq25(chrX:122805421-124676455)x3 copy number gain See cases [RCV000599069] ChrX:122805421..124676455 [GRCh37]
ChrX:Xq25
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_002351.4(SH2D1A):c.116G>T (p.Gly39Val) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000644910] ChrX:124346758 [GRCh38]
ChrX:123480608 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_002351.4(SH2D1A):c.138-3C>G single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV000663341] ChrX:124365758 [GRCh38]
ChrX:123499608 [GRCh37]
ChrX:Xq25
likely pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:120777368..139345946 [GRCh37]
ChrX:Xq24-27.1
pathogenic
NC_000023.11:g.(?_124346297)_(124371411_?)del deletion Lymphoproliferative syndrome 1, X-linked [RCV000707829] ChrX:124346297..124371411 [GRCh38]
ChrX:123480147..123505261 [GRCh37]
ChrX:Xq25
pathogenic
NC_000023.11:g.(?_124365741)_(124371411_?)del deletion Lymphoproliferative syndrome 1, X-linked [RCV000708323] ChrX:124365741..124371411 [GRCh38]
ChrX:123499591..123505261 [GRCh37]
ChrX:Xq25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_002351.5(SH2D1A):c.346+10_346+20del deletion not provided [RCV000897856] ChrX:124370326..124370336 [GRCh38]
ChrX:123504176..123504186 [GRCh37]
ChrX:Xq25
likely benign
NM_002351.4(SH2D1A):c.347-32_347-28del deletion not provided [RCV000841426]|not specified [RCV000780707] ChrX:124371316..124371320 [GRCh38]
ChrX:123505166..123505170 [GRCh37]
ChrX:Xq25
benign|likely benign
NM_002351.4(SH2D1A):c.20A>G (p.Tyr7Cys) single nucleotide variant X-Linked Lymphoproliferative Syndrome [RCV000781847] ChrX:124346662 [GRCh38]
ChrX:123480512 [GRCh37]
ChrX:Xq25
pathogenic
NM_002351.5(SH2D1A):c.202-5del deletion Lymphoproliferative syndrome 1, X-linked [RCV000925004] ChrX:124370168 [GRCh38]
ChrX:123504018 [GRCh37]
ChrX:Xq25
likely benign
NC_000023.11:g.124371319_124371323del deletion not provided [RCV000841426] ChrX:Xq25 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002351.5(SH2D1A):c.*26A>T single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001166722] ChrX:124371417 [GRCh38]
ChrX:123505267 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.*1753A>G single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001169184] ChrX:124373144 [GRCh38]
ChrX:123506994 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_002351.5(SH2D1A):c.219T>A (p.His73Gln) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001237812] ChrX:124370193 [GRCh38]
ChrX:123504043 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.118G>A (p.Val40Met) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001224587] ChrX:124346760 [GRCh38]
ChrX:123480610 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.82_102dup (p.Ser28_Ser34dup) duplication Lymphoproliferative syndrome 1, X-linked [RCV001229574] ChrX:124346721..124346722 [GRCh38]
ChrX:123480571..123480572 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_002351.5(SH2D1A):c.*1601T>C single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001169183] ChrX:124372992 [GRCh38]
ChrX:123506842 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.*511A>G single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001166724] ChrX:124371902 [GRCh38]
ChrX:123505752 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.129A>G (p.Leu43=) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001225205] ChrX:124346771 [GRCh38]
ChrX:123480621 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_002351.5(SH2D1A):c.*1077G>A single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001168446] ChrX:124372468 [GRCh38]
ChrX:123506318 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.137+3_137+6del deletion not provided [RCV001171645] ChrX:124346780..124346783 [GRCh38]
ChrX:123480630..123480633 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.131G>A (p.Cys44Tyr) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001215514] ChrX:124346773 [GRCh38]
ChrX:123480623 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.371G>C (p.Cys124Ser) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001166721] ChrX:124371375 [GRCh38]
ChrX:123505225 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.*110T>C single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001166723] ChrX:124371501 [GRCh38]
ChrX:123505351 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.346+6A>T single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001038578] ChrX:124370326 [GRCh38]
ChrX:123504176 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.98A>G (p.Asp33Gly) single nucleotide variant not provided [RCV001091712] ChrX:124346740 [GRCh38]
ChrX:123480590 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.197_201+9del deletion Lymphoproliferative syndrome 1, X-linked [RCV001246291] ChrX:124365818..124365831 [GRCh38]
ChrX:123499668..123499681 [GRCh37]
ChrX:Xq25
likely pathogenic
NM_002351.5(SH2D1A):c.362C>T (p.Pro121Leu) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001064466] ChrX:124371366 [GRCh38]
ChrX:123505216 [GRCh37]
ChrX:Xq25
uncertain significance
NM_002351.5(SH2D1A):c.*1192A>G single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001168447] ChrX:124372583 [GRCh38]
ChrX:123506433 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
NM_002351.5(SH2D1A):c.164G>A (p.Arg55Gln) single nucleotide variant Lymphoproliferative syndrome 1, X-linked [RCV001327374]|not provided [RCV001091714] ChrX:124365787 [GRCh38]
ChrX:123499637 [GRCh37]
ChrX:Xq25
pathogenic|uncertain significance
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:117120780..129850994 [GRCh37]
ChrX:Xq24-26.1
pathogenic
NM_002351.5(SH2D1A):c.62T>G (p.Leu21Arg) single nucleotide variant not provided [RCV001311403] ChrX:124346704 [GRCh38]
ChrX:123480554 [GRCh37]
ChrX:Xq25
uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10820 AgrOrtholog
COSMIC SH2D1A COSMIC
Ensembl Genes ENSG00000183918 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000353126 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000360181 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000477094 UniProtKB/Swiss-Prot
  ENSP00000494582 UniProtKB/TrEMBL
Ensembl Transcript ENST00000360027 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000371139 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000477673 UniProtKB/Swiss-Prot
  ENST00000647259 UniProtKB/TrEMBL
Gene3D-CATH 3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000183918 GTEx
HGNC ID HGNC:10820 ENTREZGENE
Human Proteome Map SH2D1A Human Proteome Map
InterPro SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_prot_1A UniProtKB/Swiss-Prot
  SH2D1A_SH2 UniProtKB/Swiss-Prot
KEGG Report hsa:4068 UniProtKB/Swiss-Prot
NCBI Gene 4068 ENTREZGENE
OMIM 300490 OMIM
  308240 OMIM
Pfam SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35728 PharmGKB
PIRSF SH2_p1A UniProtKB/Swiss-Prot
PRINTS SH2DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y573_HUMAN UniProtKB/TrEMBL
  K7XSE5_HUMAN UniProtKB/TrEMBL
  K7XXT7_HUMAN UniProtKB/TrEMBL
  K7YQB3_HUMAN UniProtKB/TrEMBL
  O60880 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8MSW0 UniProtKB/Swiss-Prot
  O95383 UniProtKB/Swiss-Prot
  O95384 UniProtKB/Swiss-Prot
  O95385 UniProtKB/Swiss-Prot
  O95386 UniProtKB/Swiss-Prot
  Q6FGS6 UniProtKB/Swiss-Prot
  Q9UNR0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-08-16 SH2D1A  SH2 domain containing 1A  SH2D1A  SH2 domain containing 1A  Symbol and/or name change 5135510 APPROVED
2011-07-27 SH2D1A  SH2 domain containing 1A  SH2D1A  SH2 domain protein 1A  Symbol and/or name change 5135510 APPROVED