HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2) - Rat Genome Database

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Gene: HNRNPH2 (heterogeneous nuclear ribonucleoprotein H2) Homo sapiens
Analyze
Symbol: HNRNPH2
Name: heterogeneous nuclear ribonucleoprotein H2
RGD ID: 1605724
HGNC Page HGNC:5042
Description: Enables RNA binding activity. Predicted to be involved in regulation of RNA splicing. Located in cytosol and nucleoplasm. Part of ribonucleoprotein complex. Implicated in syndromic X-linked intellectual developmental disorder bain type.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FTP-3; FTP3; heterogeneous nuclear ribonucleoprotein H'; heterogeneous nuclear ribonucleoprotein H-prime; heterogeneous nuclear ribonucleoprotein H2 (H'); hnRNP H'; hnRNP H2; hnRNPH'; HNRPH'; HNRPH2; MRXSB; NRPH2
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
GRCh38X101,408,222 - 101,414,133 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX101,408,222 - 101,414,133 (+)EnsemblGRCh38hg38GRCh38
GRCh37X100,663,210 - 100,669,121 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,549,847 - 100,555,777 (+)NCBINCBI36Build 36hg18NCBI36
CeleraX101,182,649 - 101,188,579 (+)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX90,469,009 - 90,475,016 (+)NCBIHuRef
CHM1_1X100,556,599 - 100,562,666 (+)NCBICHM1_1
T2T-CHM13v2.0X99,852,337 - 99,858,248 (+)NCBIT2T-CHM13v2.0
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

Biological Process

Cellular Component
cytosol  (IDA)
membrane  (HDA)
nucleoplasm  (IBA,IDA,IEA,TAS)
nucleus  (IEA,TAS)
postsynaptic density  (IEA,ISO)
ribonucleoprotein complex  (IBA,IDA,IEA)

Molecular Function
protein binding  (IPI)
RNA binding  (HDA,IBA,IEA,TAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7499401   PMID:7959728   PMID:8380905   PMID:8425221   PMID:9110171   PMID:10456323   PMID:11054566   PMID:11571276   PMID:12226669   PMID:12477932   PMID:14729942   PMID:14980514  
PMID:15772651   PMID:16171461   PMID:16344560   PMID:17081983   PMID:17620599   PMID:17643375   PMID:17932509   PMID:18029348   PMID:18247557   PMID:18377426   PMID:18809582   PMID:19738201  
PMID:19913121   PMID:19946888   PMID:20628086   PMID:21068389   PMID:21081503   PMID:21081666   PMID:21145461   PMID:21653829   PMID:21873635   PMID:21900255   PMID:21942715   PMID:22145905  
PMID:22174317   PMID:22268729   PMID:22365833   PMID:22446626   PMID:22658674   PMID:22681889   PMID:22810585   PMID:22939629   PMID:23084401   PMID:23125841   PMID:23184937   PMID:23246001  
PMID:23383273   PMID:23403292   PMID:23455924   PMID:23602568   PMID:24189400   PMID:24457600   PMID:24644279   PMID:24690621   PMID:24711643   PMID:25277244   PMID:25324306   PMID:25416956  
PMID:25437307   PMID:25756610   PMID:25900982   PMID:25963833   PMID:26217791   PMID:26288249   PMID:26344197   PMID:26487511   PMID:26496610   PMID:26687479   PMID:26777405   PMID:26831064  
PMID:27025967   PMID:27107012   PMID:27503909   PMID:27545675   PMID:27591049   PMID:27609421   PMID:27926873   PMID:28186131   PMID:28302793   PMID:28431233   PMID:28514442   PMID:28515276  
PMID:28718761   PMID:28977470   PMID:29229926   PMID:29467282   PMID:29478914   PMID:29507755   PMID:29511296   PMID:29540532   PMID:29802200   PMID:29844126   PMID:29845934   PMID:29955894  
PMID:30009671   PMID:30209976   PMID:30463901   PMID:30554943   PMID:30559450   PMID:30652415   PMID:30745168   PMID:30804502   PMID:31010829   PMID:31091453   PMID:31267705   PMID:31300519  
PMID:31324722   PMID:31470122   PMID:31586073   PMID:31670473   PMID:32129710   PMID:32296183   PMID:32433965   PMID:32687490   PMID:32707033   PMID:32780723   PMID:32786267   PMID:32807901  
PMID:32963011   PMID:32989298   PMID:32994395   PMID:33022573   PMID:33087562   PMID:33277362   PMID:33306668   PMID:33536335   PMID:33545068   PMID:33567341   PMID:33658012   PMID:33729478  
PMID:33961781   PMID:34014051   PMID:34079125   PMID:34244565   PMID:34650049   PMID:34709727   PMID:34728620   PMID:34732716   PMID:34907471   PMID:35007762   PMID:35013218   PMID:35032548  
PMID:35122331   PMID:35182466   PMID:35256949   PMID:35271311   PMID:35509820   PMID:35546148   PMID:35559673   PMID:35563538   PMID:35676246   PMID:35785414   PMID:35831314   PMID:35941108  
PMID:35944360   PMID:35987950   PMID:36108116   PMID:36114006   PMID:36168628   PMID:36215168   PMID:36282215   PMID:36424410   PMID:36526897   PMID:36537216   PMID:36634849   PMID:37372334  
PMID:37399401   PMID:37689310   PMID:38172120  


Genomics

Comparative Map Data
HNRNPH2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X101,408,222 - 101,414,133 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX101,408,222 - 101,414,133 (+)EnsemblGRCh38hg38GRCh38
GRCh37X100,663,210 - 100,669,121 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X100,549,847 - 100,555,777 (+)NCBINCBI36Build 36hg18NCBI36
CeleraX101,182,649 - 101,188,579 (+)NCBICelera
Cytogenetic MapXq22.1NCBI
HuRefX90,469,009 - 90,475,016 (+)NCBIHuRef
CHM1_1X100,556,599 - 100,562,666 (+)NCBICHM1_1
T2T-CHM13v2.0X99,852,337 - 99,858,248 (+)NCBIT2T-CHM13v2.0
Hnrnph2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X133,501,928 - 133,507,809 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX133,501,928 - 133,507,809 (+)EnsemblGRCm39 Ensembl
GRCm38X134,601,179 - 134,607,060 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX134,601,179 - 134,607,060 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X131,135,825 - 131,141,593 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X129,947,636 - 129,953,404 (+)NCBIMGSCv36mm8
CeleraX117,480,851 - 117,486,629 (+)NCBICelera
Cytogenetic MapXE3NCBI
cM MapX56.2NCBI
Hnrnph2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X102,074,175 - 102,080,115 (+)NCBIGRCr8
mRatBN7.2X97,780,890 - 97,786,846 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX97,780,785 - 97,787,041 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX99,455,194 - 99,460,391 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X102,965,912 - 102,971,108 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X100,468,344 - 100,473,541 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X105,417,603 - 105,423,531 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX105,419,285 - 105,422,861 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X105,306,966 - 105,312,885 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X122,056,647 - 122,061,844 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX98,821,521 - 98,826,703 (+)NCBICelera
Cytogenetic MapXq32NCBI
Hnrnph2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555037,535,987 - 7,541,622 (+)NCBIChiLan1.0ChiLan1.0
HNRNPH2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X101,007,512 - 101,013,500 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X101,011,117 - 101,017,105 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X90,610,742 - 90,616,726 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X100,742,447 - 100,748,378 (+)NCBIpanpan1.1PanPan1.1panPan2
HNRNPH2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X75,320,505 - 75,326,651 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX75,324,481 - 75,325,830 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X76,740,722 - 76,746,875 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX76,740,762 - 76,746,875 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X74,305,044 - 74,311,198 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X75,965,257 - 75,971,411 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X75,727,676 - 75,733,831 (+)NCBIUU_Cfam_GSD_1.0
Hnrnph2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X62,984,483 - 62,990,212 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936813484,872 - 490,615 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936813484,872 - 489,822 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HNRNPH2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX83,032,621 - 83,038,361 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X83,032,525 - 83,038,369 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
HNRNPH2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X89,749,841 - 89,756,006 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX89,753,866 - 89,755,215 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606514,667,693 - 14,673,877 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hnrnph2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249021,157,752 - 1,163,281 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249021,157,747 - 1,163,435 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HNRNPH2
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_019597.5(HNRNPH2):c.636G>T (p.Arg212Ser) single nucleotide variant not provided [RCV003325370] ChrX:101412624 [GRCh38]
ChrX:100667612 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_019597.5(HNRNPH2):c.573del (p.Arg192fs) deletion not provided [RCV000519552] ChrX:101412560 [GRCh38]
ChrX:100667548 [GRCh37]
ChrX:Xq22.1		 uncertain significance
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 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 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23		 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 Xq22.1(chrX:101323599-101596196)x1 copy number loss See cases [RCV000051714] ChrX:101323599..101596196 [GRCh38]
ChrX:100465243..100737830 [NCBI36]
ChrX:Xq22.1		 pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101407698-106274188)x1 copy number loss See cases [RCV000051715] ChrX:101407698..106274188 [GRCh38]
ChrX:100772737..105517404 [GRCh37]
ChrX:100549342..105404060 [NCBI36]
ChrX:Xq22.1-22.3		 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 Xq21.31-22.3(chrX:89372737-106174548)x3 copy number gain See cases [RCV000052440] ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3		 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
GRCh38/hg38 Xq22.1(chrX:101359634-101641294)x2 copy number gain See cases [RCV000054230] ChrX:101359634..101641294 [GRCh38]
ChrX:100501278..100782937 [NCBI36]
ChrX:Xq22.1		 uncertain significance
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_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln) single nucleotide variant HNRNPH2-related condition [RCV003401124]|Intellectual disability, X-linked, syndromic, Bain type [RCV000256185]|not provided [RCV000509012] ChrX:101412605 [GRCh38]
ChrX:100667593 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp) single nucleotide variant Inborn genetic diseases [RCV000623824]|Intellectual disability, X-linked, syndromic, Bain type [RCV000256179]|Neurodevelopmental delay [RCV002273991]|Neurodevelopmental disorder [RCV001195298]|Stereotypic movement disorder [RCV002285013]|not provided [RCV000509011] ChrX:101412604 [GRCh38]
ChrX:100667592 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely 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: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 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 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 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 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 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23		 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: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 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 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 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
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 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 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 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 Xq21.31-28(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 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 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 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23		 pathogenic
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 Xq21.33-22.3(chrX:95823036-104957737)x1 copy number loss See cases [RCV000139979] ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3		 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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23		 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 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 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 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 Xq22.1(chrX:100861647-101426591)x2 copy number gain See cases [RCV000143738] ChrX:100861647..101426591 [GRCh38]
ChrX:100116636..100681579 [GRCh37]
ChrX:100003292..100568235 [NCBI36]
ChrX:Xq22.1		 uncertain significance
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
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
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 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: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
NM_019597.5(HNRNPH2):c.-54+157G>C single nucleotide variant Fabry disease [RCV002595198] ChrX:101408476 [GRCh38]
ChrX:100663464 [GRCh37]
ChrX:Xq22.1		 benign|uncertain significance
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24		 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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-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: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:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [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
NM_019597.5(HNRNPH2):c.1010C>T (p.Thr337Ile) single nucleotide variant not provided [RCV001767132] ChrX:101412998 [GRCh38]
ChrX:100667986 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3 copy number gain not provided [RCV000585467] ChrX:99742359..100759773 [GRCh37]
ChrX:Xq22.1		 likely 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 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 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 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: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 Xq22.1-22.2(chrX:99611312-103506684) copy number gain See cases [RCV000447561] ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2		 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: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 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 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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:100662938-100663945)x3 copy number gain See cases [RCV000448406] ChrX:100662938..100663945 [GRCh37]
ChrX:Xq22.1		 likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_019597.5(HNRNPH2):c.626C>T (p.Pro209Leu) single nucleotide variant Intellectual disability, X-linked, syndromic, Bain type [RCV000509057]|not provided [RCV000509014] ChrX:101412614 [GRCh38]
ChrX:100667602 [GRCh37]
ChrX:Xq22.1		 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 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
NM_019597.5(HNRNPH2):c.1171G>A (p.Ala391Thr) single nucleotide variant not provided [RCV000498285] ChrX:101413159 [GRCh38]
ChrX:100668147 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23		 pathogenic|uncertain significance
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|uncertain significance
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 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:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 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 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24		 pathogenic
NM_019597.5(HNRNPH2):c.1291A>G (p.Ser431Gly) single nucleotide variant Inborn genetic diseases [RCV003241609] ChrX:101413279 [GRCh38]
ChrX:100668267 [GRCh37]
ChrX:Xq22.1		 likely benign
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_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys) single nucleotide variant Inborn genetic diseases [RCV000623859]|Intellectual disability, X-linked, syndromic, Bain type [RCV001265395]|not provided [RCV001327606] ChrX:101412617 [GRCh38]
ChrX:100667605 [GRCh37]
ChrX:Xq22.1		 likely pathogenic|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
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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 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:60262-155245765)x3 copy number gain not provided [RCV000753272] 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
Single allele duplication Autism [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
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_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys) single nucleotide variant Intellectual disability, X-linked, syndromic, Bain type [RCV000995563] ChrX:101412073 [GRCh38]
ChrX:100667061 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
GRCh37/hg19 Xq22.1(chrX:100183898-100809683)x4 copy number gain not provided [RCV000996091] ChrX:100183898..100809683 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_019597.5(HNRNPH2):c.1068T>C (p.Tyr356=) single nucleotide variant not provided [RCV000902214] ChrX:101413056 [GRCh38]
ChrX:100668044 [GRCh37]
ChrX:Xq22.1		 likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99858358-100772721)x2 copy number gain not provided [RCV000846413] ChrX:99858358..100772721 [GRCh37]
ChrX:Xq22.1		 uncertain significance
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 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28		 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 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 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
NM_000169.3(GLA):c.335G>A (p.Arg112His) single nucleotide variant Cardiovascular phenotype [RCV002321693]|Fabry disease [RCV000175540]|not provided [RCV000723466] ChrX:101403845 [GRCh38]
ChrX:100658833 [GRCh37]
ChrX:Xq22.1		 pathogenic|likely pathogenic
NM_019597.5(HNRNPH2):c.138C>A (p.Ile46=) single nucleotide variant not provided [RCV000980526] ChrX:101412126 [GRCh38]
ChrX:100667114 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_019597.5(HNRNPH2):c.959_964del (p.Glu320_Ile321del) deletion not provided [RCV001065614] ChrX:101412943..101412948 [GRCh38]
ChrX:100667931..100667936 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_019597.5(HNRNPH2):c.969C>T (p.Pro323=) single nucleotide variant not provided [RCV000912534] ChrX:101412957 [GRCh38]
ChrX:100667945 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_019597.5(HNRNPH2):c.1320C>T (p.Asn440=) single nucleotide variant Intellectual disability, X-linked, syndromic, Bain type [RCV001702057] ChrX:101413308 [GRCh38]
ChrX:100668296 [GRCh37]
ChrX:Xq22.1		 benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 copy number loss Xq21.32q23 deletion [RCV001579312] ChrX:91829757..113050225 [GRCh37]
ChrX:Xq21.32-23		 pathogenic
GRCh37/hg19 Xq22.1(chrX:99910467-100704219)x2 copy number gain not provided [RCV001007327] ChrX:99910467..100704219 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss See cases [RCV002285075] ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28		 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
NM_019597.5(HNRNPH2):c.635G>C (p.Arg212Thr) single nucleotide variant Intellectual disability, X-linked, syndromic, Bain type [RCV001265254] ChrX:101412623 [GRCh38]
ChrX:100667611 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 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 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-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
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25		 pathogenic
NM_019597.5(HNRNPH2):c.1019A>T (p.Asp340Val) single nucleotide variant Intellectual disability, X-linked, syndromic, Bain type [RCV003326147]|not provided [RCV001307103] ChrX:101413007 [GRCh38]
ChrX:100667995 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_019597.5(HNRNPH2):c.769T>A (p.Ser257Thr) single nucleotide variant HNRNPH2-related condition [RCV003946019]|not provided [RCV001355995] ChrX:101412757 [GRCh38]
ChrX:100667745 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_019597.5(HNRNPH2):c.-54+353C>G single nucleotide variant Fabry disease [RCV001517742] ChrX:101408672 [GRCh38]
ChrX:100663660 [GRCh37]
ChrX:Xq22.1		 benign
NM_019597.5(HNRNPH2):c.340C>T (p.Arg114Trp) single nucleotide variant Intellectual disability, X-linked, syndromic, Bain type [RCV001420155]|not provided [RCV001549775] ChrX:101412328 [GRCh38]
ChrX:100667316 [GRCh37]
ChrX:Xq22.1		 pathogenic
NM_019597.5(HNRNPH2):c.464C>G (p.Ala155Gly) single nucleotide variant not provided [RCV001767906] ChrX:101412452 [GRCh38]
ChrX:100667440 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3 copy number gain not provided [RCV001834163] ChrX:99589130..102138180 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551275)_(101097764_?)dup duplication Developmental and epileptic encephalopathy, 9 [RCV003109223]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003119228] ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_019597.5(HNRNPH2):c.638C>T (p.Pro213Leu) single nucleotide variant not provided [RCV001733296] ChrX:101412626 [GRCh38]
ChrX:100667614 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_019597.5(HNRNPH2):c.816T>C (p.Ser272=) single nucleotide variant not provided [RCV001816549] ChrX:101412804 [GRCh38]
ChrX:100667792 [GRCh37]
ChrX:Xq22.1		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.(?_99551275)_(100663464_?)del deletion Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001970672] ChrX:99551275..100663464 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NC_000023.10:g.(?_99551275)_(101097764_?)del deletion not provided [RCV003113386] ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_019597.5(HNRNPH2):c.709G>A (p.Gly237Ser) single nucleotide variant not provided [RCV002269512] ChrX:101412697 [GRCh38]
ChrX:100667685 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_019597.5(HNRNPH2):c.460del (p.Glu154fs) deletion Intellectual disability, X-linked, syndromic, Bain type [RCV002287599] ChrX:101412445 [GRCh38]
ChrX:100667433 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 copy number gain not provided [RCV002291535] ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
NM_019597.5(HNRNPH2):c.613C>T (p.Gln205Ter) single nucleotide variant Intellectual disability, X-linked, syndromic, Bain type [RCV002287197] ChrX:101412601 [GRCh38]
ChrX:100667589 [GRCh37]
ChrX:Xq22.1		 likely pathogenic
NM_019597.5(HNRNPH2):c.737A>G (p.Tyr246Cys) single nucleotide variant Intellectual disability, X-linked, syndromic, Bain type [RCV003131152] ChrX:101412725 [GRCh38]
ChrX:100667713 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 copy number loss not provided [RCV002474518] ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24		 pathogenic
NM_019597.5(HNRNPH2):c.604A>C (p.Met202Leu) single nucleotide variant Inborn genetic diseases [RCV003266112] ChrX:101412592 [GRCh38]
ChrX:100667580 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 copy number loss not provided [RCV003483927] ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25		 pathogenic
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3 copy number gain not provided [RCV003485308] ChrX:96349060..106950847 [GRCh37]
ChrX:Xq21.33-22.3		 pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 copy number gain not provided [RCV003485304] ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24		 pathogenic
NM_019597.5(HNRNPH2):c.15G>A (p.Thr5=) single nucleotide variant not provided [RCV003432237] ChrX:101412003 [GRCh38]
ChrX:100666991 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_019597.5(HNRNPH2):c.1077C>T (p.Leu359=) single nucleotide variant not provided [RCV003432238] ChrX:101413065 [GRCh38]
ChrX:100668053 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_019597.5(HNRNPH2):c.476T>A (p.Phe159Tyr) single nucleotide variant not provided [RCV003542600] ChrX:101412464 [GRCh38]
ChrX:100667452 [GRCh37]
ChrX:Xq22.1		 uncertain significance
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) copy number gain not specified [RCV003986197] ChrX:68040342..100863081 [GRCh37]
ChrX:Xq13.1-22.1		 pathogenic
GRCh37/hg19 Xq22.1(chrX:100439132-100918059) copy number gain not specified [RCV003986252] ChrX:100439132..100918059 [GRCh37]
ChrX:Xq22.1		 uncertain significance
NM_019597.5(HNRNPH2):c.639G>A (p.Pro213=) single nucleotide variant not provided [RCV003887807] ChrX:101412627 [GRCh38]
ChrX:100667615 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_019597.5(HNRNPH2):c.1170C>T (p.Gly390=) single nucleotide variant HNRNPH2-related condition [RCV003946869] ChrX:101413158 [GRCh38]
ChrX:100668146 [GRCh37]
ChrX:Xq22.1		 likely benign
NM_019597.5(HNRNPH2):c.48G>A (p.Arg16=) single nucleotide variant HNRNPH2-related condition [RCV003944103] ChrX:101412036 [GRCh38]
ChrX:100667024 [GRCh37]
ChrX:Xq22.1		 likely benign
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:460
Count of miRNA genes:352
Interacting mature miRNAs:392
Transcripts:ENST00000316594
Prediction methods:Miranda, Pita
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.

Markers in Region
STS-AA037456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,668,838 - 100,669,061UniSTSGRCh37
Build 36X100,555,494 - 100,555,717RGDNCBI36
CeleraX101,188,296 - 101,188,519RGD
Cytogenetic MapXq22UniSTS
HuRefX90,474,726 - 90,474,949UniSTS
GeneMap99-GB4 RH MapX271.8UniSTS
GDB:192499  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,662,727 - 100,662,806UniSTSGRCh37
Build 36X100,549,383 - 100,549,462RGDNCBI36
CeleraX101,182,185 - 101,182,264RGD
Cytogenetic MapXq22UniSTS
HuRefX90,468,615 - 90,468,694UniSTS
GDB:226672  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,662,668 - 100,663,017UniSTSGRCh37
Build 36X100,549,324 - 100,549,673RGDNCBI36
CeleraX101,182,126 - 101,182,475RGD
Cytogenetic MapXq22UniSTS
HuRefX90,468,556 - 90,468,905UniSTS
HNRPH2_2157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,668,300 - 100,669,137UniSTSGRCh37
Build 36X100,554,956 - 100,555,793RGDNCBI36
CeleraX101,187,758 - 101,188,595RGD
HuRefX90,474,188 - 90,475,025UniSTS
UniSTS:489907  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,666,941 - 100,668,401UniSTSGRCh37
CeleraX101,186,399 - 101,187,859UniSTS
HuRefX90,472,829 - 90,474,289UniSTS
Hnrph2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X100,667,154 - 100,667,813UniSTSGRCh37
CeleraX101,186,612 - 101,187,271UniSTS
HuRefX90,473,042 - 90,473,701UniSTS


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 1
Medium 2432 2920 1722 621 1936 463 4355 2142 3702 416 1447 1608 171 1204 2788 4
Low 5 70 4 3 15 2 1 54 31 3 11 4 4 1 1 2
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001032393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA758785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC130345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM997703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU167621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA686966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U01923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U78027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000316594   ⟹   ENSP00000361927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX101,408,222 - 101,414,133 (+)Ensembl
RefSeq Acc Id: NM_001032393   ⟹   NP_001027565
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,408,222 - 101,414,133 (+)NCBI
GRCh37X100,663,121 - 100,669,128 (+)ENTREZGENE
Build 36X100,549,847 - 100,555,777 (+)NCBI Archive
HuRefX90,469,009 - 90,475,016 (+)ENTREZGENE
CHM1_1X100,556,599 - 100,562,666 (+)NCBI
T2T-CHM13v2.0X99,852,337 - 99,858,248 (+)NCBI
Sequence:
RefSeq Acc Id: NM_019597   ⟹   NP_062543
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,408,222 - 101,414,133 (+)NCBI
GRCh37X100,663,121 - 100,669,128 (+)ENTREZGENE
Build 36X100,549,847 - 100,555,777 (+)NCBI Archive
HuRefX90,469,009 - 90,475,016 (+)ENTREZGENE
CHM1_1X100,556,599 - 100,562,666 (+)NCBI
T2T-CHM13v2.0X99,852,337 - 99,858,248 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_062543   ⟸   NM_019597
- UniProtKB: A1L400 (UniProtKB/Swiss-Prot),   Q9HHA7 (UniProtKB/Swiss-Prot),   P55795 (UniProtKB/Swiss-Prot),   A0A384MDT2 (UniProtKB/TrEMBL),   B4DFK9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001027565   ⟸   NM_001032393
- UniProtKB: A1L400 (UniProtKB/Swiss-Prot),   Q9HHA7 (UniProtKB/Swiss-Prot),   P55795 (UniProtKB/Swiss-Prot),   A0A384MDT2 (UniProtKB/TrEMBL),   B4DFK9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000361927   ⟸   ENST00000316594
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55795-F1-model_v2 AlphaFold P55795 1-449 view protein structure

Promoters
RGD ID:6808887
Promoter ID:HG_KWN:67508
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000169,   NM_001032393,   OTTHUMT00000057543,   OTTHUMT00000057544,   OTTHUMT00000057545,   OTTHUMT00000057546,   OTTHUMT00000057556
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,549,476 - 100,550,327 (-)MPROMDB
RGD ID:6850526
Promoter ID:EP73054
Type:initiation region
Name:HS_HNRPH2
Description:Heterogeneous nuclear ribonucleoprotein H2 (H').
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,549,866 - 100,549,926EPD
RGD ID:6808715
Promoter ID:HG_KWN:67509
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000395130
Position:
Human AssemblyChrPosition (strand)Source
Build 36X100,554,126 - 100,554,626 (+)MPROMDB
RGD ID:13627634
Promoter ID:EPDNEW_H29092
Type:initiation region
Name:HNRNPH2_1
Description:heterogeneous nuclear ribonucleoprotein H2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X101,408,222 - 101,408,282EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:5042 AgrOrtholog
COSMIC HNRNPH2 COSMIC
Ensembl Genes ENSG00000126945 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000316594 ENTREZGENE
  ENST00000316594.6 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000126945 GTEx
HGNC ID HGNC:5042 ENTREZGENE
Human Proteome Map HNRNPH2 Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RBD_domain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RRM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_CHHC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3188 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3188 ENTREZGENE
OMIM 300610 OMIM
PANTHER HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN H2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RRM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-RNPHF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162391316 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A384MDT2 ENTREZGENE, UniProtKB/TrEMBL
  A1L400 ENTREZGENE
  B4DFK9 ENTREZGENE, UniProtKB/TrEMBL
  HNRH2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9HHA7 ENTREZGENE
UniProt Secondary A1L400 UniProtKB/Swiss-Prot
  Q9HHA7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-01-17 HNRNPH2  heterogeneous nuclear ribonucleoprotein H2    heterogeneous nuclear ribonucleoprotein H2 (H')  Symbol and/or name change 5135510 APPROVED