SH3BP2 (SH3 domain binding protein 2) - Rat Genome Database

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Gene: SH3BP2 (SH3 domain binding protein 2) Homo sapiens
Analyze
Symbol: SH3BP2
Name: SH3 domain binding protein 2
RGD ID: 1321583
HGNC Page HGNC:10825
Description: Enables phosphotyrosine residue binding activity. Predicted to be involved in signal transduction. Implicated in cherubism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3BP-2; 3BP2; Abl-SH3 binding protein 2; CRBM; CRPM; FLJ42079; FLJ54978; RES4-23; SH3 domain-binding protein 2; SH3-domain binding protein 2; TNFAIP3 interacting protein 2
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
GRCh3842,793,085 - 2,841,096 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl42,793,071 - 2,841,098 (+)EnsemblGRCh38hg38GRCh38
GRCh3742,794,812 - 2,842,823 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3642,790,339 - 2,810,712 (+)NCBINCBI36Build 36hg18NCBI36
Build 3442,857,545 - 2,877,920NCBI
Celera42,706,072 - 2,754,024 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef42,733,534 - 2,781,278 (+)NCBIHuRef
CHM1_142,792,693 - 2,840,796 (+)NCBICHM1_1
T2T-CHM13v2.042,791,852 - 2,839,552 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
azoxystrobin  (ISO)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
C60 fullerene  (ISO)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
fenthion  (ISO)
flutamide  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
glucose  (ISO)
glyphosate  (ISO)
hydroquinone  (EXP)
imidacloprid  (ISO)
inulin  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
mercury atom  (EXP)
mercury(0)  (EXP)
methoxychlor  (ISO)
ozone  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
prothioconazole  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thiabendazole  (ISO)
titanium dioxide  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
6. Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Ueki Y, etal., Nat Genet. 2001 Jun;28(2):125-6.
Additional References at PubMed
PMID:8125298   PMID:8438166   PMID:9299232   PMID:9734812   PMID:9846481   PMID:10364527   PMID:10364528   PMID:10409713   PMID:11390470   PMID:12200378   PMID:12477932   PMID:12501243  
PMID:12709437   PMID:12900899   PMID:14577811   PMID:14757747   PMID:14759258   PMID:15117958   PMID:15345594   PMID:15489334   PMID:15751964   PMID:16169070   PMID:16177062   PMID:16273093  
PMID:16713042   PMID:16802602   PMID:17147794   PMID:17156730   PMID:17306257   PMID:17321449   PMID:17544554   PMID:18479751   PMID:18596838   PMID:19017279   PMID:19531213   PMID:19576004  
PMID:19833725   PMID:20002873   PMID:20237496   PMID:20301316   PMID:20379614   PMID:20439986   PMID:20624904   PMID:20872577   PMID:21680150   PMID:21794028   PMID:21873635   PMID:21988832  
PMID:22153076   PMID:22153077   PMID:22795151   PMID:22820184   PMID:22973453   PMID:23083484   PMID:24608212   PMID:24728074   PMID:25810396   PMID:25814554   PMID:26002965   PMID:26673895  
PMID:28611215   PMID:28721660   PMID:28986522   PMID:29885053   PMID:31343991   PMID:31753913   PMID:32296183   PMID:33941395   PMID:35279646   PMID:38127456  


Genomics

Comparative Map Data
SH3BP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3842,793,085 - 2,841,096 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl42,793,071 - 2,841,098 (+)EnsemblGRCh38hg38GRCh38
GRCh3742,794,812 - 2,842,823 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3642,790,339 - 2,810,712 (+)NCBINCBI36Build 36hg18NCBI36
Build 3442,857,545 - 2,877,920NCBI
Celera42,706,072 - 2,754,024 (+)NCBICelera
Cytogenetic Map4p16.3NCBI
HuRef42,733,534 - 2,781,278 (+)NCBIHuRef
CHM1_142,792,693 - 2,840,796 (+)NCBICHM1_1
T2T-CHM13v2.042,791,852 - 2,839,552 (+)NCBIT2T-CHM13v2.0
Sh3bp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39534,683,128 - 34,720,983 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl534,683,182 - 34,720,985 (+)EnsemblGRCm39 Ensembl
GRCm38534,525,784 - 34,563,639 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl534,525,838 - 34,563,641 (+)EnsemblGRCm38mm10GRCm38
MGSCv37534,868,433 - 34,906,288 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36534,842,703 - 34,880,483 (+)NCBIMGSCv36mm8
Celera531,996,748 - 32,034,601 (+)NCBICelera
Cytogenetic Map5B2NCBI
cM Map517.89NCBI
Sh3bp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81480,400,685 - 80,437,887 (-)NCBIGRCr8
mRatBN7.21476,176,097 - 76,213,300 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1476,176,101 - 76,213,251 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1480,628,679 - 80,665,764 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01481,869,326 - 81,906,411 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01478,314,567 - 78,351,655 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01481,435,445 - 81,473,013 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1481,435,449 - 81,472,952 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01482,122,929 - 82,160,479 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41481,818,728 - 81,855,875 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11481,822,156 - 81,855,721 (-)NCBI
Celera1475,100,620 - 75,137,766 (-)NCBICelera
Cytogenetic Map14q21NCBI
Sh3bp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555141,712,793 - 1,730,002 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555141,700,889 - 1,730,002 (+)NCBIChiLan1.0ChiLan1.0
SH3BP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v233,129,178 - 3,172,613 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan143,065,091 - 3,108,538 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v042,936,051 - 2,982,062 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.142,838,521 - 2,882,265 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl42,857,249 - 2,882,263 (+)Ensemblpanpan1.1panPan2
SH3BP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1361,454,945 - 61,488,951 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl361,358,162 - 61,474,830 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha364,038,628 - 64,072,602 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0361,930,906 - 61,964,895 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl361,930,906 - 61,964,886 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1361,422,146 - 61,456,112 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0361,627,161 - 61,661,130 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0361,986,786 - 62,020,764 (-)NCBIUU_Cfam_GSD_1.0
Sh3bp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528567,072,693 - 67,106,061 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647720,773,016 - 20,807,722 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647720,774,386 - 20,794,958 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SH3BP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl81,583,193 - 1,619,037 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.181,583,169 - 1,619,038 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.281,164,569 - 1,201,283 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SH3BP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12745,919,717 - 45,961,355 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2745,920,171 - 45,942,425 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660512,275,298 - 2,323,644 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sh3bp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475524,941,813 - 24,957,004 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475524,942,542 - 24,968,384 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SH3BP2
687 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001122681.2(SH3BP2):c.518-6A>G single nucleotide variant Fibrous dysplasia of jaw [RCV001470130] Chr4:2827600 [GRCh38]
Chr4:2829327 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val) single nucleotide variant Fibrous dysplasia of jaw [RCV000629249] Chr4:2820651 [GRCh38]
Chr4:2822378 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=) single nucleotide variant Fibrous dysplasia of jaw [RCV000629250] Chr4:2829707 [GRCh38]
Chr4:2831434 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.1089T>C (p.Ala363=) single nucleotide variant Fibrous dysplasia of jaw [RCV000629256] Chr4:2829995 [GRCh38]
Chr4:2831722 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1122C>T (p.Pro374=) single nucleotide variant Fibrous dysplasia of jaw [RCV000544146] Chr4:2830028 [GRCh38]
Chr4:2831755 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1253C>A (p.Pro418His) single nucleotide variant Fibrous dysplasia of jaw [RCV000007985] Chr4:2831582 [GRCh38]
Chr4:2833309 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001122681.2(SH3BP2):c.1244G>C (p.Arg415Pro) single nucleotide variant Fibrous dysplasia of jaw [RCV000007986] Chr4:2831573 [GRCh38]
Chr4:2833300 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001122681.2(SH3BP2):c.1244G>A (p.Arg415Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV000007987]|not provided [RCV003886359] Chr4:2831573 [GRCh38]
Chr4:2833300 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001122681.2(SH3BP2):c.1258G>C (p.Gly420Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV000007988] Chr4:2831587 [GRCh38]
Chr4:2833314 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001122681.2(SH3BP2):c.1259G>A (p.Gly420Glu) single nucleotide variant Fibrous dysplasia of jaw [RCV000007989] Chr4:2831588 [GRCh38]
Chr4:2833315 [GRCh37]
Chr4:4p16.3		 pathogenic|uncertain significance
NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV000007983] Chr4:2831582 [GRCh38]
Chr4:2833309 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_001122681.2(SH3BP2):c.1253C>G (p.Pro418Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV000007984]|not provided [RCV000486508] Chr4:2831582 [GRCh38]
Chr4:2833309 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3 copy number gain See cases [RCV000050834] Chr4:620566..2958209 [GRCh38]
Chr4:614355..2959936 [GRCh37]
Chr4:604355..2929734 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3 copy number gain See cases [RCV000050948] Chr4:51519..3775116 [GRCh38]
Chr4:51413..3776843 [GRCh37]
Chr4:41413..3746641 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3 copy number gain See cases [RCV000050906] Chr4:51519..8222798 [GRCh38]
Chr4:51413..8224525 [GRCh37]
Chr4:41413..8275425 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1 copy number loss See cases [RCV000051613] Chr4:56878..3870653 [GRCh38]
Chr4:56772..3872380 [GRCh37]
Chr4:46772..3842178 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1 copy number loss See cases [RCV000051614] Chr4:56878..14499760 [GRCh38]
Chr4:56772..14501384 [GRCh37]
Chr4:46772..14110482 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1 copy number loss See cases [RCV000051641] Chr4:72555..7829425 [GRCh38]
Chr4:72447..7831152 [GRCh37]
Chr4:62447..7882052 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]|See cases [RCV000051807] Chr4:1676799..5212384 [GRCh38]
Chr4:1678526..5214111 [GRCh37]
Chr4:1648324..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3 copy number gain See cases [RCV000051756] Chr4:85149..4596207 [GRCh38]
Chr4:85040..4597934 [GRCh37]
Chr4:75040..4648835 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3 copy number gain See cases [RCV000051754] Chr4:72555..5607083 [GRCh38]
Chr4:72447..5608810 [GRCh37]
Chr4:62447..5659711 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:2231690-11197847)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051758]|See cases [RCV000051758] Chr4:2231690..11197847 [GRCh38]
Chr4:2233417..11199471 [GRCh37]
Chr4:2203215..10808569 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1 copy number loss See cases [RCV000051671] Chr4:72555..5034991 [GRCh38]
Chr4:72447..5036718 [GRCh37]
Chr4:62447..5087619 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]|See cases [RCV000051672] Chr4:72555..10004195 [GRCh38]
Chr4:72447..10005819 [GRCh37]
Chr4:62447..9614917 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]|See cases [RCV000051674] Chr4:72555..11610824 [GRCh38]
Chr4:72447..11612448 [GRCh37]
Chr4:62447..11221546 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3 copy number gain See cases [RCV000051675] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]|See cases [RCV000051676] Chr4:72555..3847154 [GRCh38]
Chr4:72447..3848881 [GRCh37]
Chr4:62447..3818679 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1 copy number loss See cases [RCV000051677] Chr4:72555..5212384 [GRCh38]
Chr4:72447..5214111 [GRCh37]
Chr4:62447..5265012 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1 copy number loss See cases [RCV000051678] Chr4:85149..7063699 [GRCh38]
Chr4:85040..7065426 [GRCh37]
Chr4:75040..7116327 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1 copy number loss See cases [RCV000051644] Chr4:72555..3785385 [GRCh38]
Chr4:72447..3787112 [GRCh37]
Chr4:62447..3756910 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3 copy number gain See cases [RCV000051743] Chr4:51319..10250807 [GRCh38]
Chr4:51213..10252431 [GRCh37]
Chr4:41213..9861529 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1 copy number loss See cases [RCV000051645] Chr4:72555..3206313 [GRCh38]
Chr4:72447..3208040 [GRCh37]
Chr4:62447..3177838 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]|See cases [RCV000051646] Chr4:72555..3460958 [GRCh38]
Chr4:72447..3462685 [GRCh37]
Chr4:62447..3432483 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1 copy number loss See cases [RCV000051680] Chr4:85149..7843616 [GRCh38]
Chr4:85040..7845343 [GRCh37]
Chr4:75040..7896243 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1 copy number loss See cases [RCV000051681] Chr4:85149..4405782 [GRCh38]
Chr4:85040..4407509 [GRCh37]
Chr4:75040..4458410 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]|See cases [RCV000053396] Chr4:1598653..4722090 [GRCh38]
Chr4:1600380..4723817 [GRCh37]
Chr4:1570340..4774718 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
NM_001122681.2(SH3BP2):c.-4-2333G>T single nucleotide variant Inborn genetic diseases [RCV003207544] Chr4:2818281 [GRCh38]
Chr4:2820008 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1007C>T (p.Ser336Phe) single nucleotide variant Fibrous dysplasia of jaw [RCV001302660] Chr4:2829913 [GRCh38]
Chr4:2831640 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1 copy number loss See cases [RCV000133846] Chr4:72555..5344810 [GRCh38]
Chr4:72447..5346537 [GRCh37]
Chr4:62447..5397438 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1 copy number loss See cases [RCV000135336] Chr4:78578..10335613 [GRCh38]
Chr4:78470..10337237 [GRCh37]
Chr4:68470..9946335 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1 copy number loss See cases [RCV000135317] Chr4:78578..3363219 [GRCh38]
Chr4:78470..3364946 [GRCh37]
Chr4:68470..3334744 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3 copy number gain See cases [RCV000135349] Chr4:78578..15625573 [GRCh38]
Chr4:78470..15627196 [GRCh37]
Chr4:68470..15236294 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1 copy number loss See cases [RCV000134785] Chr4:37335..3775112 [GRCh38]
Chr4:37336..3776839 [GRCh37]
Chr4:27336..3746637 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1 copy number loss See cases [RCV000135436] Chr4:135972..9369341 [GRCh38]
Chr4:129753..9371067 [GRCh37]
Chr4:119753..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1 copy number loss See cases [RCV000135584] Chr4:72555..4888108 [GRCh38]
Chr4:72447..4889835 [GRCh37]
Chr4:62447..4940736 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1 copy number loss See cases [RCV000135532] Chr4:72555..15658035 [GRCh38]
Chr4:72447..15659658 [GRCh37]
Chr4:62447..15268756 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 copy number loss See cases [RCV000136572] Chr4:72555..6243425 [GRCh38]
Chr4:72447..6245152 [GRCh37]
Chr4:62447..6296053 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1 copy number loss See cases [RCV000135992] Chr4:37335..9369258 [GRCh38]
Chr4:37336..9370984 [GRCh37]
Chr4:27336..8980082 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1 copy number loss See cases [RCV000136844] Chr4:72555..4358718 [GRCh38]
Chr4:72447..4360445 [GRCh37]
Chr4:62447..4411346 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1 copy number loss See cases [RCV000137036] Chr4:72555..10250666 [GRCh38]
Chr4:72447..10252290 [GRCh37]
Chr4:62447..9861388 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1 copy number loss See cases [RCV000136930] Chr4:72555..3724047 [GRCh38]
Chr4:72447..3725774 [GRCh37]
Chr4:62447..3695572 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1 copy number loss See cases [RCV000136730] Chr4:72555..3561655 [GRCh38]
Chr4:72447..3563382 [GRCh37]
Chr4:62447..3533180 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12		 pathogenic
GRCh38/hg38 4p16.3(chr4:2019774-3881330)x3 copy number gain See cases [RCV000138129] Chr4:2019774..3881330 [GRCh38]
Chr4:2021501..3883057 [GRCh37]
Chr4:1991299..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1 copy number loss See cases [RCV000138198] Chr4:72555..12898612 [GRCh38]
Chr4:72447..12900236 [GRCh37]
Chr4:62447..12509334 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1 copy number loss See cases [RCV000138227] Chr4:36424..9369341 [GRCh38]
Chr4:36424..9371067 [GRCh37]
Chr4:26424..8980165 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3 copy number gain See cases [RCV000139432] Chr4:36424..4097002 [GRCh38]
Chr4:36424..4098729 [GRCh37]
Chr4:26424..4149630 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1 copy number loss See cases [RCV000139441] Chr4:36424..3974044 [GRCh38]
Chr4:36424..3975771 [GRCh37]
Chr4:26424..4026672 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1 copy number loss See cases [RCV000139019] Chr4:36424..3265531 [GRCh38]
Chr4:36424..3267258 [GRCh37]
Chr4:26424..3237056 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1 copy number loss See cases [RCV000139551] Chr4:37335..15869056 [GRCh38]
Chr4:37336..15870679 [GRCh37]
Chr4:27336..15479777 [NCBI36]
Chr4:4p16.3-15.32		 pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1964539-5912172)x1 copy number loss See cases [RCV000141940] Chr4:1964539..5912172 [GRCh38]
Chr4:1966266..5913899 [GRCh37]
Chr4:1936064..5964800 [NCBI36]
Chr4:4p16.3-16.2		 pathogenic
GRCh38/hg38 4p16.3(chr4:2007739-3078685)x1 copy number loss See cases [RCV000142330] Chr4:2007739..3078685 [GRCh38]
Chr4:2009466..3080412 [GRCh37]
Chr4:1979264..3050210 [NCBI36]
Chr4:4p16.3		 likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1 copy number loss See cases [RCV000142951] Chr4:36424..7359817 [GRCh38]
Chr4:36424..7361544 [GRCh37]
Chr4:26424..7412445 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1 copy number loss See cases [RCV000143377] Chr4:68453..8730129 [GRCh38]
Chr4:68345..8731855 [GRCh37]
Chr4:58345..8782755 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1 copy number loss See cases [RCV000143247] Chr4:36424..3881330 [GRCh38]
Chr4:36424..3883057 [GRCh37]
Chr4:26424..3852855 [NCBI36]
Chr4:4p16.3		 pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1 copy number loss See cases [RCV000143686] Chr4:68453..14612453 [GRCh38]
Chr4:68345..14614077 [GRCh37]
Chr4:58345..14223175 [NCBI36]
Chr4:4p16.3-15.33		 pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31		 pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1 copy number loss See cases [RCV000143547] Chr4:68453..6055026 [GRCh38]
Chr4:68345..6056753 [GRCh37]
Chr4:58345..6107654 [NCBI36]
Chr4:4p16.3-16.1		 pathogenic
NM_001122681.2(SH3BP2):c.*2510A>G single nucleotide variant Fibrous dysplasia of jaw [RCV000264484] Chr4:2836344 [GRCh38]
Chr4:2838071 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*4834G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000260776] Chr4:2838668 [GRCh38]
Chr4:2840395 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV000264563]|Inborn genetic diseases [RCV002520237]|not provided [RCV003480615] Chr4:2831939 [GRCh38]
Chr4:2833666 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV000261336] Chr4:2827241 [GRCh38]
Chr4:2828968 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV000265353]|Inborn genetic diseases [RCV002520235] Chr4:2827273 [GRCh38]
Chr4:2829000 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.*7165T>G single nucleotide variant Fibrous dysplasia of jaw [RCV000265157] Chr4:2840999 [GRCh38]
Chr4:2842726 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1252C>T (p.Pro418Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV001261155]|not provided [RCV000293867] Chr4:2831581 [GRCh38]
Chr4:2833308 [GRCh37]
Chr4:4p16.3		 pathogenic|likely benign
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_001122681.2(SH3BP2):c.1332G>A (p.Ser444=) single nucleotide variant Fibrous dysplasia of jaw [RCV000543205]|not provided [RCV001722455] Chr4:2831661 [GRCh38]
Chr4:2833388 [GRCh37]
Chr4:4p16.3		 benign|likely benign
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1 copy number loss See cases [RCV000239427] Chr4:49450..8872474 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) single nucleotide variant Fibrous dysplasia of jaw [RCV000269056] Chr4:2833015 [GRCh38]
Chr4:2834742 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001122681.2(SH3BP2):c.97C>T (p.Leu33=) single nucleotide variant Fibrous dysplasia of jaw [RCV000283666] Chr4:2820714 [GRCh38]
Chr4:2822441 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*689C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000284922] Chr4:2834523 [GRCh38]
Chr4:2836250 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*1811G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000285269] Chr4:2835645 [GRCh38]
Chr4:2837372 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*6109A>G single nucleotide variant Fibrous dysplasia of jaw [RCV000285977] Chr4:2839943 [GRCh38]
Chr4:2841670 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*3877G>C single nucleotide variant Fibrous dysplasia of jaw [RCV000281348] Chr4:2837711 [GRCh38]
Chr4:2839438 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.-4-1590C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000281716] Chr4:2819024 [GRCh38]
Chr4:2820751 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*1656T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000282477] Chr4:2835490 [GRCh38]
Chr4:2837217 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.123G>T (p.Leu41=) single nucleotide variant Fibrous dysplasia of jaw [RCV000343320]|not provided [RCV001675720]|not specified [RCV000251161] Chr4:2820740 [GRCh38]
Chr4:2822467 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*5162A>G single nucleotide variant Fibrous dysplasia of jaw [RCV000283202] Chr4:2838996 [GRCh38]
Chr4:2840723 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*5972C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000274518] Chr4:2839806 [GRCh38]
Chr4:2841533 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=) single nucleotide variant Fibrous dysplasia of jaw [RCV000386904]|not provided [RCV001722315]|not specified [RCV000246559] Chr4:2829656 [GRCh38]
Chr4:2831383 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_001122681.2(SH3BP2):c.586+8G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000291057]|not provided [RCV001668485]|not specified [RCV000241748] Chr4:2827682 [GRCh38]
Chr4:2829409 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.417C>G (p.Pro139=) single nucleotide variant Fibrous dysplasia of jaw [RCV000369852]|not provided [RCV001689839]|not specified [RCV000251602] Chr4:2825185 [GRCh38]
Chr4:2826912 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*1361C>G single nucleotide variant Fibrous dysplasia of jaw [RCV000275105] Chr4:2835195 [GRCh38]
Chr4:2836922 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.*3309C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000270801] Chr4:2837143 [GRCh38]
Chr4:2838870 [GRCh37]
Chr4:4p16.3		 benign|likely benign
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3 copy number gain See cases [RCV000240481] Chr4:127233..8667610 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not specified [RCV003986479] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_001122681.2(SH3BP2):c.357+15G>T single nucleotide variant Fibrous dysplasia of jaw [RCV000392454]|not provided [RCV001636775]|not specified [RCV000247669] Chr4:2824745 [GRCh38]
Chr4:2826472 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.-4-1781G>T single nucleotide variant Fibrous dysplasia of jaw [RCV000275726] Chr4:2818833 [GRCh38]
Chr4:2820560 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.300T>C (p.His100=) single nucleotide variant Fibrous dysplasia of jaw [RCV000349992]|not provided [RCV001698582]|not specified [RCV000242874] Chr4:2824673 [GRCh38]
Chr4:2826400 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*4818dup duplication Fibrous dysplasia of jaw [RCV000275866] Chr4:2838641..2838642 [GRCh38]
Chr4:2840368..2840369 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.518-15C>G single nucleotide variant Fibrous dysplasia of jaw [RCV000266520] Chr4:2827591 [GRCh38]
Chr4:2829318 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*305C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000351955] Chr4:2834139 [GRCh38]
Chr4:2835866 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV000352048] Chr4:2830029 [GRCh38]
Chr4:2831756 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.*3015G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000351876] Chr4:2836849 [GRCh38]
Chr4:2838576 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*6592G>C single nucleotide variant Fibrous dysplasia of jaw [RCV000352877] Chr4:2840426 [GRCh38]
Chr4:2842153 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*3743G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000373615] Chr4:2837577 [GRCh38]
Chr4:2839304 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*1655C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000374652] Chr4:2835489 [GRCh38]
Chr4:2837216 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.*5738T>G single nucleotide variant Fibrous dysplasia of jaw [RCV000299589] Chr4:2839572 [GRCh38]
Chr4:2841299 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*5898T>A single nucleotide variant Fibrous dysplasia of jaw [RCV000314608] Chr4:2839732 [GRCh38]
Chr4:2841459 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*2359A>G single nucleotide variant Fibrous dysplasia of jaw [RCV000353240]|not provided [RCV003437104] Chr4:2836193 [GRCh38]
Chr4:2837920 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*5109C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000375342] Chr4:2838943 [GRCh38]
Chr4:2840670 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.*6592G>T single nucleotide variant Fibrous dysplasia of jaw [RCV000398460] Chr4:2840426 [GRCh38]
Chr4:2842153 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*742C>A single nucleotide variant Fibrous dysplasia of jaw [RCV000399296] Chr4:2834576 [GRCh38]
Chr4:2836303 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.*4098G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000399342] Chr4:2837932 [GRCh38]
Chr4:2839659 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1151G>A (p.Arg384Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV000334833]|SH3BP2-related condition [RCV003970006] Chr4:2830057 [GRCh38]
Chr4:2831784 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*5747T>G single nucleotide variant Fibrous dysplasia of jaw [RCV000354452] Chr4:2839581 [GRCh38]
Chr4:2841308 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*6211C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000377003] Chr4:2840045 [GRCh38]
Chr4:2841772 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*1798T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000377450] Chr4:2835632 [GRCh38]
Chr4:2837359 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.171C>T (p.Cys57=) single nucleotide variant Fibrous dysplasia of jaw [RCV000399561]|SH3BP2-related condition [RCV003922531] Chr4:2822969 [GRCh38]
Chr4:2824696 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*3078G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000399736] Chr4:2836912 [GRCh38]
Chr4:2838639 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*634C>A single nucleotide variant Fibrous dysplasia of jaw [RCV000400020] Chr4:2834468 [GRCh38]
Chr4:2836195 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1141G>A (p.Val381Met) single nucleotide variant Fibrous dysplasia of jaw [RCV000400486]|Inborn genetic diseases [RCV002520236] Chr4:2830047 [GRCh38]
Chr4:2831774 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.*3155C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000301732] Chr4:2836989 [GRCh38]
Chr4:2838716 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.-4-1780A>C single nucleotide variant Fibrous dysplasia of jaw [RCV000316784] Chr4:2818834 [GRCh38]
Chr4:2820561 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*1582C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000317754] Chr4:2835416 [GRCh38]
Chr4:2837143 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.81G>T (p.Val27=) single nucleotide variant Fibrous dysplasia of jaw [RCV000378303] Chr4:2820698 [GRCh38]
Chr4:2822425 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*5329C>A single nucleotide variant Fibrous dysplasia of jaw [RCV000378925] Chr4:2839163 [GRCh38]
Chr4:2840890 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*3916C>G single nucleotide variant Fibrous dysplasia of jaw [RCV000401221] Chr4:2837750 [GRCh38]
Chr4:2839477 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.*5875A>G single nucleotide variant Fibrous dysplasia of jaw [RCV000401624] Chr4:2839709 [GRCh38]
Chr4:2841436 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.*1910C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000401721] Chr4:2835744 [GRCh38]
Chr4:2837471 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*4992C>A single nucleotide variant Fibrous dysplasia of jaw [RCV000318283] Chr4:2838826 [GRCh38]
Chr4:2840553 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*2471G>T single nucleotide variant Fibrous dysplasia of jaw [RCV000318368] Chr4:2836305 [GRCh38]
Chr4:2838032 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*2485T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000356905] Chr4:2836319 [GRCh38]
Chr4:2838046 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.464C>T (p.Ala155Val) single nucleotide variant Fibrous dysplasia of jaw [RCV000357245]|not provided [RCV001574057]|not specified [RCV001702622] Chr4:2827265 [GRCh38]
Chr4:2828992 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001122681.2(SH3BP2):c.517+5G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000379691]|SH3BP2-related condition [RCV003392216] Chr4:2827323 [GRCh38]
Chr4:2829050 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.*6076T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000380466] Chr4:2839910 [GRCh38]
Chr4:2841637 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=) single nucleotide variant Fibrous dysplasia of jaw [RCV000380701] Chr4:2827673 [GRCh38]
Chr4:2829400 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity
NM_001122681.2(SH3BP2):c.*6705C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000402294] Chr4:2840539 [GRCh38]
Chr4:2842266 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.213C>T (p.Gly71=) single nucleotide variant Fibrous dysplasia of jaw [RCV000289758] Chr4:2823011 [GRCh38]
Chr4:2824738 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*3974G>T single nucleotide variant Fibrous dysplasia of jaw [RCV000303689] Chr4:2837808 [GRCh38]
Chr4:2839535 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.79G>A (p.Val27Met) single nucleotide variant Fibrous dysplasia of jaw [RCV000318979] Chr4:2820696 [GRCh38]
Chr4:2822423 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.*7181A>G single nucleotide variant Fibrous dysplasia of jaw [RCV000320249] Chr4:2841015 [GRCh38]
Chr4:2842742 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.1351-13C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000359285] Chr4:2831910 [GRCh38]
Chr4:2833637 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.*2579C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000287917] Chr4:2836413 [GRCh38]
Chr4:2838140 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*5352T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000288013] Chr4:2839186 [GRCh38]
Chr4:2840913 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.497C>T (p.Pro166Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV000320509] Chr4:2827298 [GRCh38]
Chr4:2829025 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity
NM_001122681.2(SH3BP2):c.*1679C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000321167] Chr4:2835513 [GRCh38]
Chr4:2837240 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*5679T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000339312] Chr4:2839513 [GRCh38]
Chr4:2841240 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1429C>T (p.Arg477Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV000360517]|not provided [RCV001706563]|not specified [RCV001529973] Chr4:2832353 [GRCh38]
Chr4:2834080 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*42C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000383303]|not provided [RCV001530661] Chr4:2833876 [GRCh38]
Chr4:2835603 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*1935C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000288619] Chr4:2835769 [GRCh38]
Chr4:2837496 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*2804G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000291404] Chr4:2836638 [GRCh38]
Chr4:2838365 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*7167del deletion Fibrous dysplasia of jaw [RCV000305224] Chr4:2840991 [GRCh38]
Chr4:2842718 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1407-11T>A single nucleotide variant Fibrous dysplasia of jaw [RCV000305736] Chr4:2832320 [GRCh38]
Chr4:2834047 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*6136A>C single nucleotide variant Fibrous dysplasia of jaw [RCV000322388] Chr4:2839970 [GRCh38]
Chr4:2841697 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*2513_*2518del deletion Fibrous dysplasia of jaw [RCV000323156] Chr4:2836347..2836352 [GRCh38]
Chr4:2838074..2838079 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.*736C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000342208] Chr4:2834570 [GRCh38]
Chr4:2836297 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*4047C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000342602] Chr4:2837881 [GRCh38]
Chr4:2839608 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*1860C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000342693] Chr4:2835694 [GRCh38]
Chr4:2837421 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*3295C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000362988] Chr4:2837129 [GRCh38]
Chr4:2838856 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*2917C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000386785] Chr4:2836751 [GRCh38]
Chr4:2838478 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV000292514]|not provided [RCV003238756] Chr4:2829843 [GRCh38]
Chr4:2831570 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.*4161C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000307663] Chr4:2837995 [GRCh38]
Chr4:2839722 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*830G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000364346] Chr4:2834664 [GRCh38]
Chr4:2836391 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.*6979A>G single nucleotide variant Fibrous dysplasia of jaw [RCV000364238] Chr4:2840813 [GRCh38]
Chr4:2842540 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*4179C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000364680] Chr4:2838013 [GRCh38]
Chr4:2839740 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.528C>T (p.His176=) single nucleotide variant Fibrous dysplasia of jaw [RCV000326118]|SH3BP2-related condition [RCV003932417] Chr4:2827616 [GRCh38]
Chr4:2829343 [GRCh37]
Chr4:4p16.3		 benign|likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.239G>A (p.Arg80Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV000344615] Chr4:2823037 [GRCh38]
Chr4:2824764 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001122681.2(SH3BP2):c.*5996C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000365808] Chr4:2839830 [GRCh38]
Chr4:2841557 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*3609C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000388193] Chr4:2837443 [GRCh38]
Chr4:2839170 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*162G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000294762] Chr4:2833996 [GRCh38]
Chr4:2835723 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.299A>G (p.His100Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV000309185]|SH3BP2-related condition [RCV003902345]|not provided [RCV000890353] Chr4:2824672 [GRCh38]
Chr4:2826399 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.1549-12C>A single nucleotide variant Fibrous dysplasia of jaw [RCV000326422] Chr4:2833685 [GRCh38]
Chr4:2835412 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*2623G>T single nucleotide variant Fibrous dysplasia of jaw [RCV000326520] Chr4:2836457 [GRCh38]
Chr4:2838184 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*1947C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000345948] Chr4:2835781 [GRCh38]
Chr4:2837508 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val) single nucleotide variant Fibrous dysplasia of jaw [RCV000346025]|SH3BP2-related condition [RCV003950228] Chr4:2829562 [GRCh38]
Chr4:2831289 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity
NM_001122681.2(SH3BP2):c.*1318T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000367851] Chr4:2835152 [GRCh38]
Chr4:2836879 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*2012G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000390071] Chr4:2835846 [GRCh38]
Chr4:2837573 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.276C>T (p.Asn92=) single nucleotide variant Fibrous dysplasia of jaw [RCV000390097] Chr4:2824649 [GRCh38]
Chr4:2826376 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001122681.2(SH3BP2):c.*2951C>G single nucleotide variant Fibrous dysplasia of jaw [RCV000294705] Chr4:2836785 [GRCh38]
Chr4:2838512 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*1116C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000310873] Chr4:2834950 [GRCh38]
Chr4:2836677 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*3350C>G single nucleotide variant Fibrous dysplasia of jaw [RCV000328333] Chr4:2837184 [GRCh38]
Chr4:2838911 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*2202G>C single nucleotide variant Fibrous dysplasia of jaw [RCV000368314] Chr4:2836036 [GRCh38]
Chr4:2837763 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*5965A>C single nucleotide variant Fibrous dysplasia of jaw [RCV000369342] Chr4:2839799 [GRCh38]
Chr4:2841526 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*1067C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000391823] Chr4:2834901 [GRCh38]
Chr4:2836628 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*2342C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000392310] Chr4:2836176 [GRCh38]
Chr4:2837903 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*2163A>T single nucleotide variant Fibrous dysplasia of jaw [RCV000311049] Chr4:2835997 [GRCh38]
Chr4:2837724 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*4563A>C single nucleotide variant Fibrous dysplasia of jaw [RCV000311145] Chr4:2838397 [GRCh38]
Chr4:2840124 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*102G>T single nucleotide variant Fibrous dysplasia of jaw [RCV000329821] Chr4:2833936 [GRCh38]
Chr4:2835663 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.*2912C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000348553] Chr4:2836746 [GRCh38]
Chr4:2838473 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*3638A>G single nucleotide variant Fibrous dysplasia of jaw [RCV000296762] Chr4:2837472 [GRCh38]
Chr4:2839199 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*5992A>G single nucleotide variant Fibrous dysplasia of jaw [RCV000329865] Chr4:2839826 [GRCh38]
Chr4:2841553 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*1420C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000370901] Chr4:2835254 [GRCh38]
Chr4:2836981 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*372G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000371476] Chr4:2834206 [GRCh38]
Chr4:2835933 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.-4-1638C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000371550] Chr4:2818976 [GRCh38]
Chr4:2820703 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.*4832T>G single nucleotide variant Fibrous dysplasia of jaw [RCV000371816] Chr4:2838666 [GRCh38]
Chr4:2840393 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.441G>A (p.Ser147=) single nucleotide variant Fibrous dysplasia of jaw [RCV000297764]|not provided [RCV001706562] Chr4:2827242 [GRCh38]
Chr4:2828969 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.1150C>T (p.Arg384Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV000298519] Chr4:2830056 [GRCh38]
Chr4:2831783 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity
NM_001122681.2(SH3BP2):c.*6618G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000313114] Chr4:2840452 [GRCh38]
Chr4:2842179 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*3560C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000331876] Chr4:2837394 [GRCh38]
Chr4:2839121 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*7167dup duplication Fibrous dysplasia of jaw [RCV000269650] Chr4:2840990..2840991 [GRCh38]
Chr4:2842717..2842718 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*1489G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000260240] Chr4:2835323 [GRCh38]
Chr4:2837050 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*6037T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000271151] Chr4:2839871 [GRCh38]
Chr4:2841598 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*2464T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000260852] Chr4:2836298 [GRCh38]
Chr4:2838025 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*6399_*6400insA insertion Fibrous dysplasia of jaw [RCV000282641] Chr4:2840233..2840234 [GRCh38]
Chr4:2841960..2841961 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*4329_*4330del deletion Fibrous dysplasia of jaw [RCV000272439] Chr4:2838162..2838163 [GRCh38]
Chr4:2839889..2839890 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*88T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000272521] Chr4:2833922 [GRCh38]
Chr4:2835649 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*4817_*4818dup duplication Fibrous dysplasia of jaw [RCV000333460] Chr4:2838641..2838642 [GRCh38]
Chr4:2840368..2840369 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*3387G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000274438] Chr4:2837221 [GRCh38]
Chr4:2838948 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*5738dup duplication Fibrous dysplasia of jaw [RCV000400796] Chr4:2839563..2839564 [GRCh38]
Chr4:2841290..2841291 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*3220T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000267255] Chr4:2837054 [GRCh38]
Chr4:2838781 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*6580del deletion Fibrous dysplasia of jaw [RCV000278647] Chr4:2840408 [GRCh38]
Chr4:2842135 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*415G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000279280] Chr4:2834249 [GRCh38]
Chr4:2835976 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.476del (p.Pro159fs) deletion Fibrous dysplasia of jaw [RCV001368292] Chr4:2827276 [GRCh38]
Chr4:2829003 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1574A>G (p.Glu525Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV001367635] Chr4:2833722 [GRCh38]
Chr4:2835449 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_001122681.2(SH3BP2):c.*2353CT[1] microsatellite Fibrous dysplasia of jaw [RCV000314704] Chr4:2836187..2836188 [GRCh38]
Chr4:2837914..2837915 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*2574G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000380164] Chr4:2836408 [GRCh38]
Chr4:2838135 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.398A>C (p.His133Pro) single nucleotide variant Fibrous dysplasia of jaw [RCV000315132] Chr4:2825166 [GRCh38]
Chr4:2826893 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*3132TCT[1] microsatellite Fibrous dysplasia of jaw [RCV000401693] Chr4:2836964..2836966 [GRCh38]
Chr4:2838691..2838693 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*1401C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000332573] Chr4:2835235 [GRCh38]
Chr4:2836962 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*2665C>G single nucleotide variant Fibrous dysplasia of jaw [RCV000383417] Chr4:2836499 [GRCh38]
Chr4:2838226 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*3383C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000385128] Chr4:2837217 [GRCh38]
Chr4:2838944 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*5613C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000284398] Chr4:2839447 [GRCh38]
Chr4:2841174 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*3229T>G single nucleotide variant Fibrous dysplasia of jaw [RCV000306083] Chr4:2837063 [GRCh38]
Chr4:2838790 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*6660A>G single nucleotide variant Fibrous dysplasia of jaw [RCV000367804] Chr4:2840494 [GRCh38]
Chr4:2842221 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*128T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000386717] Chr4:2833962 [GRCh38]
Chr4:2835689 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*821A>G single nucleotide variant Fibrous dysplasia of jaw [RCV000307182] Chr4:2834655 [GRCh38]
Chr4:2836382 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*3667G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000335361] Chr4:2837501 [GRCh38]
Chr4:2839228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*4776T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000368100] Chr4:2838610 [GRCh38]
Chr4:2840337 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*3111C>G single nucleotide variant Fibrous dysplasia of jaw [RCV000336613] Chr4:2836945 [GRCh38]
Chr4:2838672 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*618G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000336687] Chr4:2834452 [GRCh38]
Chr4:2836179 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1280_1282del (p.Ser427del) deletion Fibrous dysplasia of jaw [RCV000407042] Chr4:2831607..2831609 [GRCh38]
Chr4:2833334..2833336 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.*5322TCTTTT[2] microsatellite Fibrous dysplasia of jaw [RCV000321957] Chr4:2839156..2839161 [GRCh38]
Chr4:2840883..2840888 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*6420dup duplication Fibrous dysplasia of jaw [RCV000337686] Chr4:2840234..2840235 [GRCh38]
Chr4:2841961..2841962 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*6928T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000309434] Chr4:2840762 [GRCh38]
Chr4:2842489 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*3911C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000338778] Chr4:2837745 [GRCh38]
Chr4:2839472 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*3106A>T single nucleotide variant Fibrous dysplasia of jaw [RCV000298258] Chr4:2836940 [GRCh38]
Chr4:2838667 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1299A>G (p.Gln433=) single nucleotide variant Fibrous dysplasia of jaw [RCV000299722] Chr4:2831628 [GRCh38]
Chr4:2833355 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*6061G>C single nucleotide variant Fibrous dysplasia of jaw [RCV000326244] Chr4:2839895 [GRCh38]
Chr4:2841622 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*5583G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000394231] Chr4:2839417 [GRCh38]
Chr4:2841144 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*3175C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000358838] Chr4:2837009 [GRCh38]
Chr4:2838736 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*5496A>T single nucleotide variant Fibrous dysplasia of jaw [RCV000342930] Chr4:2839330 [GRCh38]
Chr4:2841057 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*7166_*7167del deletion Fibrous dysplasia of jaw [RCV000360009] Chr4:2840991..2840992 [GRCh38]
Chr4:2842718..2842719 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*6419_*6420dup duplication Fibrous dysplasia of jaw [RCV000397855] Chr4:2840234..2840235 [GRCh38]
Chr4:2841961..2841962 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1326C>A (p.Asp442Glu) single nucleotide variant Fibrous dysplasia of jaw [RCV000532856] Chr4:2831655 [GRCh38]
Chr4:2833382 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1190C>T (p.Ala397Val) single nucleotide variant Fibrous dysplasia of jaw [RCV000629247] Chr4:2830096 [GRCh38]
Chr4:2831823 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1320C>T (p.Gly440=) single nucleotide variant Fibrous dysplasia of jaw [RCV000629251] Chr4:2831649 [GRCh38]
Chr4:2833376 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1258G>A (p.Gly420Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV002523913]|not provided [RCV000414728] Chr4:2831587 [GRCh38]
Chr4:2833314 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001122681.2(SH3BP2):c.543C>T (p.Asp181=) single nucleotide variant Fibrous dysplasia of jaw [RCV000558250] Chr4:2827631 [GRCh38]
Chr4:2829358 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1 copy number loss See cases [RCV000446287] Chr4:68345..15197147 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000447633] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1 copy number loss See cases [RCV000448933] Chr4:71552..15302739 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3 copy number gain See cases [RCV000512063] Chr4:68345..3713599 [GRCh37]
Chr4:4p16.3		 likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1 copy number loss See cases [RCV000512104] Chr4:68345..10336032 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3 copy number gain See cases [RCV000510565] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1 copy number loss See cases [RCV000510596] Chr4:68345..4044985 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1 copy number loss See cases [RCV000511351] Chr4:68345..13770107 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1 copy number loss See cases [RCV000511691] Chr4:68345..5319773 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1		 pathogenic
NM_001122681.2(SH3BP2):c.459C>T (p.Tyr153=) single nucleotide variant Fibrous dysplasia of jaw [RCV000625066] Chr4:2827260 [GRCh38]
Chr4:2828987 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.410A>G (p.Asp137Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV000629246] Chr4:2825178 [GRCh38]
Chr4:2826905 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1666G>A (p.Gly556Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV000629248]|not provided [RCV003233766] Chr4:2833814 [GRCh38]
Chr4:2835541 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1488+6C>T single nucleotide variant Fibrous dysplasia of jaw [RCV000629253] Chr4:2832418 [GRCh38]
Chr4:2834145 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV000629255]|not provided [RCV001706689] Chr4:2833834 [GRCh38]
Chr4:2835561 [GRCh37]
Chr4:4p16.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.1187T>C (p.Met396Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV000558941] Chr4:2830093 [GRCh38]
Chr4:2831820 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1386G>A (p.Thr462=) single nucleotide variant Fibrous dysplasia of jaw [RCV000629252] Chr4:2831958 [GRCh38]
Chr4:2833685 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.573C>T (p.Pro191=) single nucleotide variant Fibrous dysplasia of jaw [RCV000629254] Chr4:2827661 [GRCh38]
Chr4:2829388 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1 copy number loss See cases [RCV000512438] Chr4:68345..3891984 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:1998507-2986076)x3 copy number gain not provided [RCV000682369] Chr4:1998507..2986076 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:2364201-5447465)x1 copy number loss not provided [RCV000682370] Chr4:2364201..5447465 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:2730654-3265710)x3 copy number gain not provided [RCV000682371] Chr4:2730654..3265710 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.240-1G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000701200] Chr4:2824612 [GRCh38]
Chr4:2826339 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.167G>A (p.Arg56His) single nucleotide variant Fibrous dysplasia of jaw [RCV000687220] Chr4:2822965 [GRCh38]
Chr4:2824692 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV000693032] Chr4:2832386 [GRCh38]
Chr4:2834113 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.1481C>T (p.Ser494Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV000688436] Chr4:2832405 [GRCh38]
Chr4:2834132 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.932G>A (p.Gly311Asp) single nucleotide variant Fibrous dysplasia of jaw [RCV000692115] Chr4:2829838 [GRCh38]
Chr4:2831565 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.754G>A (p.Glu252Lys) single nucleotide variant Fibrous dysplasia of jaw [RCV000692052] Chr4:2829660 [GRCh38]
Chr4:2831387 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.803C>G (p.Pro268Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV000703808] Chr4:2829709 [GRCh38]
Chr4:2831436 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1190C>G (p.Ala397Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV000700828] Chr4:2830096 [GRCh38]
Chr4:2831823 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1343A>C (p.Tyr448Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV000697635] Chr4:2831672 [GRCh38]
Chr4:2833399 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.724del (p.His242fs) deletion Fibrous dysplasia of jaw [RCV000695856] Chr4:2829630 [GRCh38]
Chr4:2831357 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1534C>T (p.Arg512Cys) single nucleotide variant Fibrous dysplasia of jaw [RCV000700244] Chr4:2833035 [GRCh38]
Chr4:2834762 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.127C>G (p.Leu43Val) single nucleotide variant Fibrous dysplasia of jaw [RCV000705903] Chr4:2820744 [GRCh38]
Chr4:2822471 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11		 pathogenic
GRCh37/hg19 4p16.3(chr4:2175733-2917646)x1 copy number loss not provided [RCV000743221] Chr4:2175733..2917646 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_001122681.2(SH3BP2):c.206C>T (p.Pro69Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001065933] Chr4:2823004 [GRCh38]
Chr4:2824731 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.566C>G (p.Pro189Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001066405] Chr4:2827654 [GRCh38]
Chr4:2829381 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.207G>A (p.Pro69=) single nucleotide variant Fibrous dysplasia of jaw [RCV000945087] Chr4:2823005 [GRCh38]
Chr4:2824732 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.643C>A (p.Pro215Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV000970104] Chr4:2829549 [GRCh38]
Chr4:2831276 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.81G>A (p.Val27=) single nucleotide variant Fibrous dysplasia of jaw [RCV000927443] Chr4:2820698 [GRCh38]
Chr4:2822425 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1366T>C (p.Ser456Pro) single nucleotide variant Fibrous dysplasia of jaw [RCV000882502]|not provided [RCV001528511] Chr4:2831938 [GRCh38]
Chr4:2833665 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.1241+10T>C single nucleotide variant Fibrous dysplasia of jaw [RCV001480946] Chr4:2830157 [GRCh38]
Chr4:2831884 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.517+9T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000983679] Chr4:2827327 [GRCh38]
Chr4:2829054 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.632C>T (p.Thr211Met) single nucleotide variant Fibrous dysplasia of jaw [RCV001036769] Chr4:2829538 [GRCh38]
Chr4:2831265 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1448G>C (p.Gly483Ala) single nucleotide variant Fibrous dysplasia of jaw [RCV001038710] Chr4:2832372 [GRCh38]
Chr4:2834099 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=) single nucleotide variant Fibrous dysplasia of jaw [RCV001052147] Chr4:2829656 [GRCh38]
Chr4:2831383 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000004.12:g.(?_2812378)_(2820773_?)dup duplication Fibrous dysplasia of jaw [RCV001033714] Chr4:2814105..2822500 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1535G>A (p.Arg512His) single nucleotide variant Fibrous dysplasia of jaw [RCV001059645]|Inborn genetic diseases [RCV002553868] Chr4:2833036 [GRCh38]
Chr4:2834763 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.71C>G (p.Pro24Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001070520] Chr4:2820688 [GRCh38]
Chr4:2822415 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1439C>G (p.Pro480Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV000807485] Chr4:2832363 [GRCh38]
Chr4:2834090 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1654C>T (p.Arg552Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV000792423]|not provided [RCV001573479] Chr4:2833802 [GRCh38]
Chr4:2835529 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.299_300delinsGC (p.His100Arg) indel Fibrous dysplasia of jaw [RCV000885004] Chr4:2824672..2824673 [GRCh38]
Chr4:2826399..2826400 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1461C>T (p.Ile487=) single nucleotide variant Fibrous dysplasia of jaw [RCV001453380] Chr4:2832385 [GRCh38]
Chr4:2834112 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1233G>A (p.Pro411=) single nucleotide variant Fibrous dysplasia of jaw [RCV000975359] Chr4:2830139 [GRCh38]
Chr4:2831866 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.428+9G>A single nucleotide variant Fibrous dysplasia of jaw [RCV001435969] Chr4:2825205 [GRCh38]
Chr4:2826932 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411) copy number loss 4p partial monosomy syndrome [RCV000767672] Chr4:75742..8672411 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_001122681.2(SH3BP2):c.1596C>T (p.Gly532=) single nucleotide variant Fibrous dysplasia of jaw [RCV000983677] Chr4:2833744 [GRCh38]
Chr4:2835471 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1488+9C>T single nucleotide variant Fibrous dysplasia of jaw [RCV001454257] Chr4:2832421 [GRCh38]
Chr4:2834148 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.720T>A (p.Pro240=) single nucleotide variant Fibrous dysplasia of jaw [RCV000936865] Chr4:2829626 [GRCh38]
Chr4:2831353 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1683G>A (p.Arg561=) single nucleotide variant Fibrous dysplasia of jaw [RCV003507321] Chr4:2833831 [GRCh38]
Chr4:2835558 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.6G>A (p.Ala2=) single nucleotide variant Fibrous dysplasia of jaw [RCV001498938] Chr4:2820623 [GRCh38]
Chr4:2822350 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1665C>T (p.Tyr555=) single nucleotide variant Fibrous dysplasia of jaw [RCV000916873]|SH3BP2-related condition [RCV003902961] Chr4:2833813 [GRCh38]
Chr4:2835540 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1489-10C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002540803] Chr4:2832980 [GRCh38]
Chr4:2834707 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1593G>C (p.Val531=) single nucleotide variant Fibrous dysplasia of jaw [RCV001505903] Chr4:2833741 [GRCh38]
Chr4:2835468 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1464G>T (p.Arg488=) single nucleotide variant Fibrous dysplasia of jaw [RCV000768313] Chr4:2832388 [GRCh38]
Chr4:2834115 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.321G>A (p.Thr107=) single nucleotide variant Fibrous dysplasia of jaw [RCV001441756] Chr4:2824694 [GRCh38]
Chr4:2826421 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1350+6G>A single nucleotide variant Fibrous dysplasia of jaw [RCV000821068] Chr4:2831685 [GRCh38]
Chr4:2833412 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.566C>T (p.Pro189Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV000798484] Chr4:2827654 [GRCh38]
Chr4:2829381 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1624G>A (p.Val542Met) single nucleotide variant Fibrous dysplasia of jaw [RCV000936195] Chr4:2833772 [GRCh38]
Chr4:2835499 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.397C>A (p.His133Asn) single nucleotide variant Fibrous dysplasia of jaw [RCV000801553] Chr4:2825165 [GRCh38]
Chr4:2826892 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1395C>T (p.Cys465=) single nucleotide variant Fibrous dysplasia of jaw [RCV000915907]|SH3BP2-related condition [RCV003923226] Chr4:2831967 [GRCh38]
Chr4:2833694 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.782C>G (p.Pro261Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV000893505] Chr4:2829688 [GRCh38]
Chr4:2831415 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV000820362]|Inborn genetic diseases [RCV002537465]|SH3BP2-related condition [RCV003396442] Chr4:2833803 [GRCh38]
Chr4:2835530 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.771C>G (p.Asp257Glu) single nucleotide variant Fibrous dysplasia of jaw [RCV000796951] Chr4:2829677 [GRCh38]
Chr4:2831404 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.862G>A (p.Ala288Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV000822645] Chr4:2829768 [GRCh38]
Chr4:2831495 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.713C>T (p.Pro238Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV000806751]|not provided [RCV003480846] Chr4:2829619 [GRCh38]
Chr4:2831346 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.688G>T (p.Gly230Cys) single nucleotide variant Fibrous dysplasia of jaw [RCV000821499]|not provided [RCV003480871] Chr4:2829594 [GRCh38]
Chr4:2831321 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1654C>G (p.Arg552Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV000802609]|Inborn genetic diseases [RCV002534718] Chr4:2833802 [GRCh38]
Chr4:2835529 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.512A>G (p.Asn171Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV000822247] Chr4:2827313 [GRCh38]
Chr4:2829040 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*7184A>G single nucleotide variant Fibrous dysplasia of jaw [RCV001145951] Chr4:2841018 [GRCh38]
Chr4:2842745 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.*3758T>G single nucleotide variant Fibrous dysplasia of jaw [RCV001147468] Chr4:2837592 [GRCh38]
Chr4:2839319 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.950C>T (p.Thr317Ile) single nucleotide variant Fibrous dysplasia of jaw [RCV000811375]|Inborn genetic diseases [RCV002537354] Chr4:2829856 [GRCh38]
Chr4:2831583 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.17del (p.Met6fs) deletion Fibrous dysplasia of jaw [RCV000814840] Chr4:2820634 [GRCh38]
Chr4:2822361 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1198G>A (p.Ala400Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV002066184] Chr4:2830104 [GRCh38]
Chr4:2831831 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.42C>T (p.Ala14=) single nucleotide variant Fibrous dysplasia of jaw [RCV001467652] Chr4:2820659 [GRCh38]
Chr4:2822386 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1103C>A (p.Pro368Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV000802504]|not provided [RCV003326514] Chr4:2830009 [GRCh38]
Chr4:2831736 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.625G>A (p.Val209Met) single nucleotide variant Fibrous dysplasia of jaw [RCV000822806]|not provided [RCV002267030] Chr4:2829531 [GRCh38]
Chr4:2831258 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1232C>T (p.Pro411Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV000813697]|not provided [RCV003480858] Chr4:2830138 [GRCh38]
Chr4:2831865 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1033C>G (p.Pro345Ala) single nucleotide variant Fibrous dysplasia of jaw [RCV000797638] Chr4:2829939 [GRCh38]
Chr4:2831666 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.587-3C>A single nucleotide variant Fibrous dysplasia of jaw [RCV000823503] Chr4:2829490 [GRCh38]
Chr4:2831217 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter) single nucleotide variant Fibrous dysplasia of jaw [RCV000817519]|not provided [RCV001509230] Chr4:2831572 [GRCh38]
Chr4:2833299 [GRCh37]
Chr4:4p16.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001122681.2(SH3BP2):c.1518C>T (p.Asn506=) single nucleotide variant Fibrous dysplasia of jaw [RCV001473750] Chr4:2833019 [GRCh38]
Chr4:2834746 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.78C>T (p.Gly26=) single nucleotide variant Fibrous dysplasia of jaw [RCV001149631] Chr4:2820695 [GRCh38]
Chr4:2822422 [GRCh37]
Chr4:4p16.3		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3 copy number gain not provided [RCV000847002] Chr4:68345..4051616 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1 copy number loss not provided [RCV001005514] Chr4:68345..10312798 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
NM_001122681.2(SH3BP2):c.15G>C (p.Glu5Asp) single nucleotide variant Fibrous dysplasia of jaw [RCV001044948] Chr4:2820632 [GRCh38]
Chr4:2822359 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1178C>T (p.Pro393Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001226352] Chr4:2830084 [GRCh38]
Chr4:2831811 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.527A>G (p.His176Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001204633] Chr4:2827615 [GRCh38]
Chr4:2829342 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.341C>G (p.Ser114Cys) single nucleotide variant Fibrous dysplasia of jaw [RCV001239341] Chr4:2824714 [GRCh38]
Chr4:2826441 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1488G>A (p.Lys496=) single nucleotide variant Fibrous dysplasia of jaw [RCV001242552] Chr4:2832412 [GRCh38]
Chr4:2834139 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.316C>T (p.Arg106Cys) single nucleotide variant Fibrous dysplasia of jaw [RCV001209467] Chr4:2824689 [GRCh38]
Chr4:2826416 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.892C>T (p.Arg298Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV001223714] Chr4:2829798 [GRCh38]
Chr4:2831525 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.478G>C (p.Val160Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001235245] Chr4:2827279 [GRCh38]
Chr4:2829006 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1130T>C (p.Phe377Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV001238540] Chr4:2830036 [GRCh38]
Chr4:2831763 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1234C>T (p.His412Tyr) single nucleotide variant Fibrous dysplasia of jaw [RCV001218705] Chr4:2830140 [GRCh38]
Chr4:2831867 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*882C>T single nucleotide variant Fibrous dysplasia of jaw [RCV001147344] Chr4:2834716 [GRCh38]
Chr4:2836443 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.430G>C (p.Asp144His) single nucleotide variant Inborn genetic diseases [RCV003291566] Chr4:2827231 [GRCh38]
Chr4:2828958 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1242-72G>C single nucleotide variant not provided [RCV001660939] Chr4:2831499 [GRCh38]
Chr4:2833226 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.240-122_240-121insA insertion not provided [RCV001721589] Chr4:2824491..2824492 [GRCh38]
Chr4:2826218..2826219 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1407-92G>A single nucleotide variant not provided [RCV001721604]|not specified [RCV003394233] Chr4:2832239 [GRCh38]
Chr4:2833966 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.-4-8193A>G single nucleotide variant not provided [RCV001636414] Chr4:2812421 [GRCh38]
Chr4:2814148 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.-4-2080G>A single nucleotide variant not provided [RCV001676687] Chr4:2818534 [GRCh38]
Chr4:2820261 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.491T>G (p.Leu164Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV000908350]|SH3BP2-related condition [RCV003902840] Chr4:2827292 [GRCh38]
Chr4:2829019 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.96C>T (p.Tyr32=) single nucleotide variant Fibrous dysplasia of jaw [RCV002542109] Chr4:2820713 [GRCh38]
Chr4:2822440 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.714G>C (p.Pro238=) single nucleotide variant not provided [RCV000980832] Chr4:2829620 [GRCh38]
Chr4:2831347 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1326C>T (p.Asp442=) single nucleotide variant Fibrous dysplasia of jaw [RCV000955330] Chr4:2831655 [GRCh38]
Chr4:2833382 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.429-10T>C single nucleotide variant Fibrous dysplasia of jaw [RCV000933331] Chr4:2827220 [GRCh38]
Chr4:2828947 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1197C>T (p.Pro399=) single nucleotide variant Fibrous dysplasia of jaw [RCV001398386] Chr4:2830103 [GRCh38]
Chr4:2831830 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1351-10C>A single nucleotide variant Fibrous dysplasia of jaw [RCV001512161] Chr4:2831913 [GRCh38]
Chr4:2833640 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1131T>C (p.Phe377=) single nucleotide variant Fibrous dysplasia of jaw [RCV001468871] Chr4:2830037 [GRCh38]
Chr4:2831764 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.893G>A (p.Arg298Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV001239551] Chr4:2829799 [GRCh38]
Chr4:2831526 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.568G>A (p.Glu190Lys) single nucleotide variant Fibrous dysplasia of jaw [RCV001208983] Chr4:2827656 [GRCh38]
Chr4:2829383 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1292C>T (p.Pro431Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001240540] Chr4:2831621 [GRCh38]
Chr4:2833348 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1135C>T (p.Pro379Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV001209749] Chr4:2830041 [GRCh38]
Chr4:2831768 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1252C>A (p.Pro418Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV001070686] Chr4:2831581 [GRCh38]
Chr4:2833308 [GRCh37]
Chr4:4p16.3		 pathogenic|likely pathogenic
NM_001122681.2(SH3BP2):c.1489-6C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002066150] Chr4:2832984 [GRCh38]
Chr4:2834711 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1164G>A (p.Leu388=) single nucleotide variant Fibrous dysplasia of jaw [RCV000934373] Chr4:2830070 [GRCh38]
Chr4:2831797 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.531C>T (p.Asp177=) single nucleotide variant Fibrous dysplasia of jaw [RCV001470645] Chr4:2827619 [GRCh38]
Chr4:2829346 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1350+94T>C single nucleotide variant not provided [RCV001689116] Chr4:2831773 [GRCh38]
Chr4:2833500 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1488+91A>G single nucleotide variant not provided [RCV001636469] Chr4:2832503 [GRCh38]
Chr4:2834230 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1 copy number loss not provided [RCV002473938] Chr4:1..12785001 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1 copy number loss not provided [RCV002473869] Chr4:68346..12369983 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
GRCh37/hg19 4p16.3(chr4:963688-2913553)x3 copy number gain not provided [RCV002473933] Chr4:963688..2913553 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_001122681.2(SH3BP2):c.1241+44G>A single nucleotide variant not provided [RCV001688003] Chr4:2830191 [GRCh38]
Chr4:2831918 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.517+32T>C single nucleotide variant Fibrous dysplasia of jaw [RCV001807528]|not provided [RCV001721592]|not specified [RCV003401655] Chr4:2827350 [GRCh38]
Chr4:2829077 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.587-38C>G single nucleotide variant not provided [RCV001721606] Chr4:2829455 [GRCh38]
Chr4:2831182 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.239+84T>A single nucleotide variant not provided [RCV001598767] Chr4:2823121 [GRCh38]
Chr4:2824848 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.-4-179G>A single nucleotide variant not provided [RCV001599177] Chr4:2820435 [GRCh38]
Chr4:2822162 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2		 pathogenic
NM_001122681.2(SH3BP2):c.*6603G>A single nucleotide variant Fibrous dysplasia of jaw [RCV001145624] Chr4:2840437 [GRCh38]
Chr4:2842164 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.-4-2172C>G single nucleotide variant not provided [RCV001613798] Chr4:2818442 [GRCh38]
Chr4:2820169 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.-4-34T>C single nucleotide variant Fibrous dysplasia of jaw [RCV001807465]|not provided [RCV001645978] Chr4:2820580 [GRCh38]
Chr4:2822307 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1489-163C>T single nucleotide variant not provided [RCV001671235] Chr4:2832827 [GRCh38]
Chr4:2834554 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.-4-52C>A single nucleotide variant not provided [RCV001666060]|not specified [RCV003401572] Chr4:2820562 [GRCh38]
Chr4:2822289 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_001122681.2(SH3BP2):c.136+195C>T single nucleotide variant not provided [RCV001714081] Chr4:2820948 [GRCh38]
Chr4:2822675 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1242-170G>A single nucleotide variant not provided [RCV001650794] Chr4:2831401 [GRCh38]
Chr4:2833128 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.166C>T (p.Arg56Cys) single nucleotide variant Fibrous dysplasia of jaw [RCV001149632] Chr4:2822964 [GRCh38]
Chr4:2824691 [GRCh37]
Chr4:4p16.3		 benign|conflicting interpretations of pathogenicity
NM_001122681.2(SH3BP2):c.1488+7G>A single nucleotide variant Fibrous dysplasia of jaw [RCV001149736] Chr4:2832419 [GRCh38]
Chr4:2834146 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1321G>A (p.Gly441Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001208982] Chr4:2831650 [GRCh38]
Chr4:2833377 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1 copy number loss not provided [RCV001005511] Chr4:68345..9768141 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_001122681.2(SH3BP2):c.760T>C (p.Ser254Pro) single nucleotide variant Fibrous dysplasia of jaw [RCV001202019] Chr4:2829666 [GRCh38]
Chr4:2831393 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1382C>T (p.Thr461Ile) single nucleotide variant Fibrous dysplasia of jaw [RCV001217712] Chr4:2831954 [GRCh38]
Chr4:2833681 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11		 pathogenic
NM_001122681.2(SH3BP2):c.845T>A (p.Leu282Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV001220508] Chr4:2829751 [GRCh38]
Chr4:2831478 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1132G>T (p.Val378Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001219164] Chr4:2830038 [GRCh38]
Chr4:2831765 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.817A>G (p.Thr273Ala) single nucleotide variant Fibrous dysplasia of jaw [RCV001234454] Chr4:2829723 [GRCh38]
Chr4:2831450 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.457T>A (p.Tyr153Asn) single nucleotide variant Fibrous dysplasia of jaw [RCV001213395] Chr4:2827258 [GRCh38]
Chr4:2828985 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.12:g.(?_2059492)_(2833854_?)del deletion Fibrous dysplasia of jaw [RCV001033381] Chr4:2061219..2835581 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1160C>T (p.Ala387Val) single nucleotide variant Fibrous dysplasia of jaw [RCV001206771] Chr4:2830066 [GRCh38]
Chr4:2831793 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1 copy number loss not provided [RCV001005512] Chr4:68345..8731855 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1 copy number loss not provided [RCV001005513] Chr4:68345..6984507 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
NM_001122681.2(SH3BP2):c.1396G>A (p.Glu466Lys) single nucleotide variant Fibrous dysplasia of jaw [RCV001247803] Chr4:2831968 [GRCh38]
Chr4:2833695 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1184C>T (p.Ala395Val) single nucleotide variant Fibrous dysplasia of jaw [RCV001247885]|Inborn genetic diseases [RCV002570362] Chr4:2830090 [GRCh38]
Chr4:2831817 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.868G>A (p.Gly290Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV001038582]|Inborn genetic diseases [RCV002551427] Chr4:2829774 [GRCh38]
Chr4:2831501 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.1039T>C (p.Ser347Pro) single nucleotide variant Fibrous dysplasia of jaw [RCV001232137] Chr4:2829945 [GRCh38]
Chr4:2831672 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.907C>G (p.Pro303Ala) single nucleotide variant Fibrous dysplasia of jaw [RCV001063507] Chr4:2829813 [GRCh38]
Chr4:2831540 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1052C>G (p.Pro351Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001063528]|Inborn genetic diseases [RCV002553942] Chr4:2829958 [GRCh38]
Chr4:2831685 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1A>G (p.Met1Val) single nucleotide variant Fibrous dysplasia of jaw [RCV003106773] Chr4:2820618 [GRCh38]
Chr4:2822345 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1 copy number loss not provided [RCV001258643] Chr4:68345..5046326 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1 copy number loss not provided [RCV001258644] Chr4:68345..5831521 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
NM_001122681.2(SH3BP2):c.664C>T (p.Arg222Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV001964464] Chr4:2829570 [GRCh38]
Chr4:2831297 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:1941633-3879802)x1 copy number loss not provided [RCV001258633] Chr4:1941633..3879802 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001122681.2(SH3BP2):c.1421C>T (p.Thr474Ile) single nucleotide variant Fibrous dysplasia of jaw [RCV001267794] Chr4:2832345 [GRCh38]
Chr4:2834072 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1241+40C>G single nucleotide variant not provided [RCV001539329] Chr4:2830187 [GRCh38]
Chr4:2831914 [GRCh37]
Chr4:4p16.3		 benign
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
NM_001122681.2(SH3BP2):c.1244G>T (p.Arg415Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001261154] Chr4:2831573 [GRCh38]
Chr4:2833300 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:388344-3872380) copy number loss Fetal growth restriction [RCV001352672] Chr4:388344..3872380 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001122681.2(SH3BP2):c.201del (p.Ser68fs) deletion Fibrous dysplasia of jaw [RCV001307531] Chr4:2822998 [GRCh38]
Chr4:2824725 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.586+5G>T single nucleotide variant Fibrous dysplasia of jaw [RCV001301110] Chr4:2827679 [GRCh38]
Chr4:2829406 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1117A>G (p.Met373Val) single nucleotide variant Fibrous dysplasia of jaw [RCV001327265] Chr4:2830023 [GRCh38]
Chr4:2831750 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.506C>T (p.Thr169Met) single nucleotide variant Fibrous dysplasia of jaw [RCV001317335]|Inborn genetic diseases [RCV002543723]|SH3BP2-related condition [RCV003416199] Chr4:2827307 [GRCh38]
Chr4:2829034 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.914C>T (p.Pro305Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001302436] Chr4:2829820 [GRCh38]
Chr4:2831547 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1641G>C (p.Gln547His) single nucleotide variant Fibrous dysplasia of jaw [RCV001337240] Chr4:2833789 [GRCh38]
Chr4:2835516 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1192C>T (p.Arg398Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV001297264] Chr4:2830098 [GRCh38]
Chr4:2831825 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1425C>T (p.Ser475=) single nucleotide variant Fibrous dysplasia of jaw [RCV001392370] Chr4:2832349 [GRCh38]
Chr4:2834076 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1489-9G>A single nucleotide variant Fibrous dysplasia of jaw [RCV001412627] Chr4:2832981 [GRCh38]
Chr4:2834708 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1103C>T (p.Pro368Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001369082] Chr4:2830009 [GRCh38]
Chr4:2831736 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_2200251)_(5710240_?)del deletion Ellis-van Creveld syndrome [RCV001386270] Chr4:2200251..5710240 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
NM_001122681.2(SH3BP2):c.1385C>T (p.Thr462Met) single nucleotide variant Fibrous dysplasia of jaw [RCV001294872] Chr4:2831957 [GRCh38]
Chr4:2833684 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.1507G>A (p.Glu503Lys) single nucleotide variant Fibrous dysplasia of jaw [RCV001325974]|Inborn genetic diseases [RCV002546151] Chr4:2833008 [GRCh38]
Chr4:2834735 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1380C>A (p.Asn460Lys) single nucleotide variant Fibrous dysplasia of jaw [RCV001373784] Chr4:2831952 [GRCh38]
Chr4:2833679 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1254C>T (p.Pro418=) single nucleotide variant Fibrous dysplasia of jaw [RCV001415422] Chr4:2831583 [GRCh38]
Chr4:2833310 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1416G>A (p.Lys472=) single nucleotide variant Fibrous dysplasia of jaw [RCV001373899] Chr4:2832340 [GRCh38]
Chr4:2834067 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.1264_1265del (p.Ser422fs) microsatellite Fibrous dysplasia of jaw [RCV001364208] Chr4:2831591..2831592 [GRCh38]
Chr4:2833318..2833319 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1345_1347del (p.Glu449del) deletion Fibrous dysplasia of jaw [RCV001373789] Chr4:2831674..2831676 [GRCh38]
Chr4:2833401..2833403 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1205T>G (p.Leu402Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001362888] Chr4:2830111 [GRCh38]
Chr4:2831838 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.757G>A (p.Asp253Asn) single nucleotide variant Fibrous dysplasia of jaw [RCV001369854] Chr4:2829663 [GRCh38]
Chr4:2831390 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.605C>T (p.Pro202Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001338718] Chr4:2829511 [GRCh38]
Chr4:2831238 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1097A>G (p.Asp366Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV001347008]|Inborn genetic diseases [RCV003169694] Chr4:2830003 [GRCh38]
Chr4:2831730 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1103del (p.Pro368fs) deletion Fibrous dysplasia of jaw [RCV001345166] Chr4:2830004 [GRCh38]
Chr4:2831731 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.959C>G (p.Ala320Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV001347992] Chr4:2829865 [GRCh38]
Chr4:2831592 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1327G>A (p.Asp443Asn) single nucleotide variant Fibrous dysplasia of jaw [RCV001364396] Chr4:2831656 [GRCh38]
Chr4:2833383 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1675G>T (p.Gly559Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV001315322] Chr4:2833823 [GRCh38]
Chr4:2835550 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1350+1G>T single nucleotide variant Fibrous dysplasia of jaw [RCV001336528] Chr4:2831680 [GRCh38]
Chr4:2833407 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001122681.2(SH3BP2):c.428+1G>C single nucleotide variant Fibrous dysplasia of jaw [RCV001295724] Chr4:2825197 [GRCh38]
Chr4:2826924 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1661C>G (p.Pro554Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001319039] Chr4:2833809 [GRCh38]
Chr4:2835536 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.930del (p.Gly311fs) deletion Fibrous dysplasia of jaw [RCV001365495] Chr4:2829836 [GRCh38]
Chr4:2831563 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1330T>A (p.Ser444Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV001349084]|Inborn genetic diseases [RCV002545601] Chr4:2831659 [GRCh38]
Chr4:2833386 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.867C>T (p.Pro289=) single nucleotide variant Fibrous dysplasia of jaw [RCV001421325] Chr4:2829773 [GRCh38]
Chr4:2831500 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1331C>T (p.Ser444Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001365940]|Inborn genetic diseases [RCV002550057]|not provided [RCV001509231] Chr4:2831660 [GRCh38]
Chr4:2833387 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.429C>T (p.Ser143=) single nucleotide variant Fibrous dysplasia of jaw [RCV001299196] Chr4:2827230 [GRCh38]
Chr4:2828957 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.1549-5dup duplication Fibrous dysplasia of jaw [RCV001416620] Chr4:2833687..2833688 [GRCh38]
Chr4:2835414..2835415 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1549-9_1549-8delinsAA indel Fibrous dysplasia of jaw [RCV001486766] Chr4:2833688..2833689 [GRCh38]
Chr4:2835415..2835416 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.247C>A (p.Arg83=) single nucleotide variant Fibrous dysplasia of jaw [RCV001502458] Chr4:2824620 [GRCh38]
Chr4:2826347 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.606G>A (p.Pro202=) single nucleotide variant Fibrous dysplasia of jaw [RCV001516053] Chr4:2829512 [GRCh38]
Chr4:2831239 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.267G>A (p.Thr89=) single nucleotide variant Fibrous dysplasia of jaw [RCV001438752] Chr4:2824640 [GRCh38]
Chr4:2826367 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1407-19T>C single nucleotide variant Fibrous dysplasia of jaw [RCV001510569] Chr4:2832312 [GRCh38]
Chr4:2834039 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.927C>T (p.Thr309=) single nucleotide variant Fibrous dysplasia of jaw [RCV001452585] Chr4:2829833 [GRCh38]
Chr4:2831560 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1489-5T>C single nucleotide variant Fibrous dysplasia of jaw [RCV001516866] Chr4:2832985 [GRCh38]
Chr4:2834712 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1500G>A (p.Val500=) single nucleotide variant Fibrous dysplasia of jaw [RCV001497446] Chr4:2833001 [GRCh38]
Chr4:2834728 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1294C>T (p.Arg432Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV001467152] Chr4:2831623 [GRCh38]
Chr4:2833350 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.861C>T (p.Thr287=) single nucleotide variant Fibrous dysplasia of jaw [RCV001488661] Chr4:2829767 [GRCh38]
Chr4:2831494 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1485G>A (p.Gly495=) single nucleotide variant Fibrous dysplasia of jaw [RCV001448443] Chr4:2832409 [GRCh38]
Chr4:2834136 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.429-186T>G single nucleotide variant not provided [RCV001643647] Chr4:2827044 [GRCh38]
Chr4:2828771 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.174C>T (p.Val58=) single nucleotide variant Fibrous dysplasia of jaw [RCV001444601] Chr4:2822972 [GRCh38]
Chr4:2824699 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1209C>T (p.Pro403=) single nucleotide variant Fibrous dysplasia of jaw [RCV001407950] Chr4:2830115 [GRCh38]
Chr4:2831842 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.252G>A (p.Ala84=) single nucleotide variant Fibrous dysplasia of jaw [RCV001442703] Chr4:2824625 [GRCh38]
Chr4:2826352 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.644C>G (p.Pro215Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001401554] Chr4:2829550 [GRCh38]
Chr4:2831277 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.513T>C (p.Asn171=) single nucleotide variant Fibrous dysplasia of jaw [RCV001442344] Chr4:2827314 [GRCh38]
Chr4:2829041 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1386G>T (p.Thr462=) single nucleotide variant Fibrous dysplasia of jaw [RCV001408772] Chr4:2831958 [GRCh38]
Chr4:2833685 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.714G>A (p.Pro238=) single nucleotide variant Fibrous dysplasia of jaw [RCV001448009] Chr4:2829620 [GRCh38]
Chr4:2831347 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1647G>A (p.Leu549=) single nucleotide variant Fibrous dysplasia of jaw [RCV001425844] Chr4:2833795 [GRCh38]
Chr4:2835522 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1140C>T (p.Pro380=) single nucleotide variant Fibrous dysplasia of jaw [RCV001440447] Chr4:2830046 [GRCh38]
Chr4:2831773 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.894G>A (p.Arg298=) single nucleotide variant Fibrous dysplasia of jaw [RCV001494941] Chr4:2829800 [GRCh38]
Chr4:2831527 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1008C>T (p.Ser336=) single nucleotide variant Fibrous dysplasia of jaw [RCV001454357] Chr4:2829914 [GRCh38]
Chr4:2831641 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.866C>A (p.Pro289His) single nucleotide variant not provided [RCV001509229] Chr4:2829772 [GRCh38]
Chr4:2831499 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.990C>T (p.Asn330=) single nucleotide variant Fibrous dysplasia of jaw [RCV001491006] Chr4:2829896 [GRCh38]
Chr4:2831623 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.518-18C>A single nucleotide variant Fibrous dysplasia of jaw [RCV001515972] Chr4:2827588 [GRCh38]
Chr4:2829315 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1335C>T (p.Asp445=) single nucleotide variant Fibrous dysplasia of jaw [RCV001476885] Chr4:2831664 [GRCh38]
Chr4:2833391 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1242-209A>C single nucleotide variant not provided [RCV001713887] Chr4:2831362 [GRCh38]
Chr4:2833089 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.586+77G>C single nucleotide variant not provided [RCV001649259] Chr4:2827751 [GRCh38]
Chr4:2829478 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.745C>T (p.Leu249=) single nucleotide variant Fibrous dysplasia of jaw [RCV001470902] Chr4:2829651 [GRCh38]
Chr4:2831378 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1406+14C>A single nucleotide variant Fibrous dysplasia of jaw [RCV001518302] Chr4:2831992 [GRCh38]
Chr4:2833719 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1374C>T (p.Phe458=) single nucleotide variant Fibrous dysplasia of jaw [RCV001484892] Chr4:2831946 [GRCh38]
Chr4:2833673 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1056G>A (p.Val352=) single nucleotide variant Fibrous dysplasia of jaw [RCV001482104] Chr4:2829962 [GRCh38]
Chr4:2831689 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.633G>A (p.Thr211=) single nucleotide variant Fibrous dysplasia of jaw [RCV001473932] Chr4:2829539 [GRCh38]
Chr4:2831266 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1488+7G>T single nucleotide variant Fibrous dysplasia of jaw [RCV001500316] Chr4:2832419 [GRCh38]
Chr4:2834146 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.477T>C (p.Pro159=) single nucleotide variant Fibrous dysplasia of jaw [RCV001478699] Chr4:2827278 [GRCh38]
Chr4:2829005 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1351-16C>T single nucleotide variant Fibrous dysplasia of jaw [RCV001519793] Chr4:2831907 [GRCh38]
Chr4:2833634 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.447A>G (p.Thr149=) single nucleotide variant Fibrous dysplasia of jaw [RCV001497849] Chr4:2827248 [GRCh38]
Chr4:2828975 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1125A>G (p.Gly375=) single nucleotide variant Fibrous dysplasia of jaw [RCV001478400] Chr4:2830031 [GRCh38]
Chr4:2831758 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1668C>A (p.Gly556=) single nucleotide variant Fibrous dysplasia of jaw [RCV001451917] Chr4:2833816 [GRCh38]
Chr4:2835543 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1161G>A (p.Ala387=) single nucleotide variant Fibrous dysplasia of jaw [RCV001456001] Chr4:2830067 [GRCh38]
Chr4:2831794 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.929del (p.Pro310fs) deletion See cases [RCV002252610] Chr4:2829832 [GRCh38]
Chr4:2831559 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.-4-2378G>C single nucleotide variant Inborn genetic diseases [RCV003273723] Chr4:2818236 [GRCh38]
Chr4:2819963 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.376C>T (p.Arg126Cys) single nucleotide variant Fibrous dysplasia of jaw [RCV001988792]|SH3BP2-related condition [RCV003911144]|not provided [RCV003481239] Chr4:2825144 [GRCh38]
Chr4:2826871 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1523T>G (p.Val508Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV001968426] Chr4:2833024 [GRCh38]
Chr4:2834751 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.221C>T (p.Ser74Phe) single nucleotide variant Fibrous dysplasia of jaw [RCV002045153] Chr4:2823019 [GRCh38]
Chr4:2824746 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.333G>A (p.Ser111=) single nucleotide variant Fibrous dysplasia of jaw [RCV001970643] Chr4:2824706 [GRCh38]
Chr4:2826433 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.1496T>G (p.Val499Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV001948944] Chr4:2832997 [GRCh38]
Chr4:2834724 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.429C>G (p.Ser143Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV002045542] Chr4:2827230 [GRCh38]
Chr4:2828957 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.238C>T (p.Arg80Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV001895591] Chr4:2823036 [GRCh38]
Chr4:2824763 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1457G>A (p.Cys486Tyr) single nucleotide variant Fibrous dysplasia of jaw [RCV001863345] Chr4:2832381 [GRCh38]
Chr4:2834108 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1061C>T (p.Ala354Val) single nucleotide variant Fibrous dysplasia of jaw [RCV001986791]|not provided [RCV003481241] Chr4:2829967 [GRCh38]
Chr4:2831694 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.977C>T (p.Ala326Val) single nucleotide variant Fibrous dysplasia of jaw [RCV002041801] Chr4:2829883 [GRCh38]
Chr4:2831610 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1521A>T (p.Lys507Asn) single nucleotide variant Fibrous dysplasia of jaw [RCV001965940] Chr4:2833022 [GRCh38]
Chr4:2834749 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.788G>A (p.Arg263Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV001911881] Chr4:2829694 [GRCh38]
Chr4:2831421 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1120C>T (p.Pro374Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV002043971] Chr4:2830026 [GRCh38]
Chr4:2831753 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.463G>A (p.Ala155Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV001893555] Chr4:2827264 [GRCh38]
Chr4:2828991 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.305G>C (p.Ser102Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV001945980] Chr4:2824678 [GRCh38]
Chr4:2826405 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1450C>G (p.Leu484Val) single nucleotide variant Fibrous dysplasia of jaw [RCV001948993] Chr4:2832374 [GRCh38]
Chr4:2834101 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1259G>C (p.Gly420Ala) single nucleotide variant Fibrous dysplasia of jaw [RCV002052435] Chr4:2831588 [GRCh38]
Chr4:2833315 [GRCh37]
Chr4:4p16.3		 likely pathogenic
NM_001122681.2(SH3BP2):c.1548+20G>T single nucleotide variant Fibrous dysplasia of jaw [RCV002003297] Chr4:2833069 [GRCh38]
Chr4:2834796 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.1254dup (p.Asp419fs) duplication Fibrous dysplasia of jaw [RCV001912398] Chr4:2831577..2831578 [GRCh38]
Chr4:2833304..2833305 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1133T>C (p.Val378Ala) single nucleotide variant Fibrous dysplasia of jaw [RCV001914212] Chr4:2830039 [GRCh38]
Chr4:2831766 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.400G>A (p.Glu134Lys) single nucleotide variant Fibrous dysplasia of jaw [RCV002003203] Chr4:2825168 [GRCh38]
Chr4:2826895 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.112G>A (p.Gly38Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV001968930] Chr4:2820729 [GRCh38]
Chr4:2822456 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1426C>T (p.Pro476Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV001968755] Chr4:2832350 [GRCh38]
Chr4:2834077 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.199G>A (p.Ala67Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV001986552] Chr4:2822997 [GRCh38]
Chr4:2824724 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1295G>A (p.Arg432Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV001910628]|Inborn genetic diseases [RCV002557830] Chr4:2831624 [GRCh38]
Chr4:2833351 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.628C>T (p.Pro210Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV002020682] Chr4:2829534 [GRCh38]
Chr4:2831261 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.353G>A (p.Arg118His) single nucleotide variant Fibrous dysplasia of jaw [RCV001967193] Chr4:2824726 [GRCh38]
Chr4:2826453 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.282C>G (p.Phe94Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001926455] Chr4:2824655 [GRCh38]
Chr4:2826382 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
NM_001122681.2(SH3BP2):c.1406+2T>A single nucleotide variant Fibrous dysplasia of jaw [RCV001999237] Chr4:2831980 [GRCh38]
Chr4:2833707 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.256G>T (p.Glu86Ter) single nucleotide variant Fibrous dysplasia of jaw [RCV001887328] Chr4:2824629 [GRCh38]
Chr4:2826356 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_2822345)_(2822500_?)dup duplication Fibrous dysplasia of jaw [RCV001918036] Chr4:2822345..2822500 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.160C>A (p.His54Asn) single nucleotide variant Fibrous dysplasia of jaw [RCV002018005] Chr4:2822958 [GRCh38]
Chr4:2824685 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.560A>G (p.Asp187Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV001942358] Chr4:2827648 [GRCh38]
Chr4:2829375 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.967A>G (p.Met323Val) single nucleotide variant Fibrous dysplasia of jaw [RCV001943143] Chr4:2829873 [GRCh38]
Chr4:2831600 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.993_994del (p.Cys331_Asp332delinsTer) microsatellite Fibrous dysplasia of jaw [RCV001944285] Chr4:2829897..2829898 [GRCh38]
Chr4:2831624..2831625 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1514C>T (p.Ser505Phe) single nucleotide variant Fibrous dysplasia of jaw [RCV001898333] Chr4:2833015 [GRCh38]
Chr4:2834742 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.44T>C (p.Ile15Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV001916995]|Inborn genetic diseases [RCV003247171] Chr4:2820661 [GRCh38]
Chr4:2822388 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1175T>C (p.Val392Ala) single nucleotide variant Fibrous dysplasia of jaw [RCV002046080] Chr4:2830081 [GRCh38]
Chr4:2831808 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.357+14_357+15insTAGGACGAGTGCAAGGTGACTGGGGGTCC insertion Fibrous dysplasia of jaw [RCV001942565] Chr4:2824725..2824726 [GRCh38]
Chr4:2826452..2826453 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.796C>T (p.Pro266Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV001962289] Chr4:2829702 [GRCh38]
Chr4:2831429 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(3495228_?)del deletion Fibrous dysplasia of jaw [RCV001943824] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.692C>T (p.Pro231Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001992148] Chr4:2829598 [GRCh38]
Chr4:2831325 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.707C>T (p.Pro236Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001882225] Chr4:2829613 [GRCh38]
Chr4:2831340 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.947C>T (p.Ser316Phe) single nucleotide variant Fibrous dysplasia of jaw [RCV001867255] Chr4:2829853 [GRCh38]
Chr4:2831580 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.787C>T (p.Arg263Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV002051447] Chr4:2829693 [GRCh38]
Chr4:2831420 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_2822345)_(2822500_?)del deletion Fibrous dysplasia of jaw [RCV001918035] Chr4:2822345..2822500 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.823C>T (p.Arg275Ter) single nucleotide variant Fibrous dysplasia of jaw [RCV001903841] Chr4:2829729 [GRCh38]
Chr4:2831456 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.620C>T (p.Pro207Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001932587] Chr4:2829526 [GRCh38]
Chr4:2831253 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1430G>A (p.Arg477Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV002047078] Chr4:2832354 [GRCh38]
Chr4:2834081 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1437G>C (p.Glu479Asp) single nucleotide variant Fibrous dysplasia of jaw [RCV001934091] Chr4:2832361 [GRCh38]
Chr4:2834088 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1549-6C>G single nucleotide variant Fibrous dysplasia of jaw [RCV001903265] Chr4:2833691 [GRCh38]
Chr4:2835418 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.587A>G (p.Asp196Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV002012171] Chr4:2829493 [GRCh38]
Chr4:2831220 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.32C>T (p.Pro11Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV001876931] Chr4:2820649 [GRCh38]
Chr4:2822376 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.343G>A (p.Glu115Lys) single nucleotide variant Fibrous dysplasia of jaw [RCV001933326]|Inborn genetic diseases [RCV002556419] Chr4:2824716 [GRCh38]
Chr4:2826443 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1241+16G>A single nucleotide variant Fibrous dysplasia of jaw [RCV001974906] Chr4:2830163 [GRCh38]
Chr4:2831890 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.240-16G>A single nucleotide variant Fibrous dysplasia of jaw [RCV002014888] Chr4:2824597 [GRCh38]
Chr4:2826324 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_2822345)_(3495228_?)dup duplication not provided [RCV001877626] Chr4:2822345..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1140dup (p.Val381fs) duplication Fibrous dysplasia of jaw [RCV001866540] Chr4:2830040..2830041 [GRCh38]
Chr4:2831767..2831768 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.509del (p.Asp170fs) deletion Fibrous dysplasia of jaw [RCV002047483] Chr4:2827310 [GRCh38]
Chr4:2829037 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.944G>C (p.Cys315Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV002036458] Chr4:2829850 [GRCh38]
Chr4:2831577 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.393C>G (p.His131Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV002026471] Chr4:2825161 [GRCh38]
Chr4:2826888 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(2886413_?)del deletion Mucopolysaccharidosis type 1 [RCV001960721] Chr4:493125..2886413 [GRCh37]
Chr4:4p16.3		 pathogenic
NM_001122681.2(SH3BP2):c.1049C>G (p.Pro350Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001878452] Chr4:2829955 [GRCh38]
Chr4:2831682 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.886T>C (p.Cys296Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001883088] Chr4:2829792 [GRCh38]
Chr4:2831519 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1418C>G (p.Ala473Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV001990828] Chr4:2832342 [GRCh38]
Chr4:2834069 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1368G>A (p.Ser456=) single nucleotide variant Fibrous dysplasia of jaw [RCV001995373] Chr4:2831940 [GRCh38]
Chr4:2833667 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.574G>A (p.Gly192Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001916573] Chr4:2827662 [GRCh38]
Chr4:2829389 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.821C>G (p.Pro274Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001919294] Chr4:2829727 [GRCh38]
Chr4:2831454 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1291C>A (p.Pro431Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV002017027] Chr4:2831620 [GRCh38]
Chr4:2833347 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.429-17C>T single nucleotide variant Fibrous dysplasia of jaw [RCV001960026] Chr4:2827213 [GRCh38]
Chr4:2828940 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.874C>T (p.Arg292Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV001918419]|Inborn genetic diseases [RCV002557609] Chr4:2829780 [GRCh38]
Chr4:2831507 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1573G>A (p.Glu525Lys) single nucleotide variant Fibrous dysplasia of jaw [RCV002026468] Chr4:2833721 [GRCh38]
Chr4:2835448 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1153CCT[1] (p.Pro386del) microsatellite Fibrous dysplasia of jaw [RCV001919909] Chr4:2830059..2830061 [GRCh38]
Chr4:2831786..2831788 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1275C>A (p.Ser425Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV001952591] Chr4:2831604 [GRCh38]
Chr4:2833331 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.518-19C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002110356] Chr4:2827587 [GRCh38]
Chr4:2829314 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.518-16C>G single nucleotide variant Fibrous dysplasia of jaw [RCV002168786] Chr4:2827590 [GRCh38]
Chr4:2829317 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.587-10del deletion Fibrous dysplasia of jaw [RCV002074655] Chr4:2829481 [GRCh38]
Chr4:2831208 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.517+15C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002086626] Chr4:2827333 [GRCh38]
Chr4:2829060 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.225G>C (p.Leu75=) single nucleotide variant Fibrous dysplasia of jaw [RCV002091148] Chr4:2823023 [GRCh38]
Chr4:2824750 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.358-13C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002109998] Chr4:2825113 [GRCh38]
Chr4:2826840 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.690C>T (p.Gly230=) single nucleotide variant Fibrous dysplasia of jaw [RCV002128476] Chr4:2829596 [GRCh38]
Chr4:2831323 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1351-15G>A single nucleotide variant Fibrous dysplasia of jaw [RCV002111614] Chr4:2831908 [GRCh38]
Chr4:2833635 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1489-16C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002186650] Chr4:2832974 [GRCh38]
Chr4:2834701 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.586+8G>C single nucleotide variant Fibrous dysplasia of jaw [RCV002205269] Chr4:2827682 [GRCh38]
Chr4:2829409 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1221G>A (p.Lys407=) single nucleotide variant Fibrous dysplasia of jaw [RCV002188553] Chr4:2830127 [GRCh38]
Chr4:2831854 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.756G>A (p.Glu252=) single nucleotide variant Fibrous dysplasia of jaw [RCV002125774] Chr4:2829662 [GRCh38]
Chr4:2831389 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.357+14C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002153658] Chr4:2824744 [GRCh38]
Chr4:2826471 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1239C>T (p.Leu413=) single nucleotide variant Fibrous dysplasia of jaw [RCV002076121] Chr4:2830145 [GRCh38]
Chr4:2831872 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1241+20G>T single nucleotide variant Fibrous dysplasia of jaw [RCV002115966] Chr4:2830167 [GRCh38]
Chr4:2831894 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1383C>G (p.Thr461=) single nucleotide variant Fibrous dysplasia of jaw [RCV002211758] Chr4:2831955 [GRCh38]
Chr4:2833682 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1623C>T (p.His541=) single nucleotide variant Fibrous dysplasia of jaw [RCV002196296] Chr4:2833771 [GRCh38]
Chr4:2835498 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.787C>A (p.Arg263=) single nucleotide variant Fibrous dysplasia of jaw [RCV002097175] Chr4:2829693 [GRCh38]
Chr4:2831420 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.357+20C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002095483] Chr4:2824750 [GRCh38]
Chr4:2826477 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1224G>A (p.Pro408=) single nucleotide variant Fibrous dysplasia of jaw [RCV002113821] Chr4:2830130 [GRCh38]
Chr4:2831857 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.429-16G>T single nucleotide variant Fibrous dysplasia of jaw [RCV002149643] Chr4:2827214 [GRCh38]
Chr4:2828941 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.518-11_518-10del microsatellite Fibrous dysplasia of jaw [RCV002115139] Chr4:2827592..2827593 [GRCh38]
Chr4:2829319..2829320 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1608G>A (p.Glu536=) single nucleotide variant Fibrous dysplasia of jaw [RCV002172928] Chr4:2833756 [GRCh38]
Chr4:2835483 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.342C>T (p.Ser114=) single nucleotide variant Fibrous dysplasia of jaw [RCV002108003] Chr4:2824715 [GRCh38]
Chr4:2826442 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.518-16C>A single nucleotide variant Fibrous dysplasia of jaw [RCV002109759] Chr4:2827590 [GRCh38]
Chr4:2829317 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.114T>C (p.Gly38=) single nucleotide variant Fibrous dysplasia of jaw [RCV002170667] Chr4:2820731 [GRCh38]
Chr4:2822458 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.518-14dup duplication Fibrous dysplasia of jaw [RCV002073603] Chr4:2827586..2827587 [GRCh38]
Chr4:2829313..2829314 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.429-16G>A single nucleotide variant Fibrous dysplasia of jaw [RCV002111706] Chr4:2827214 [GRCh38]
Chr4:2828941 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.782C>T (p.Pro261Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV002152570] Chr4:2829688 [GRCh38]
Chr4:2831415 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1241+15C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002172741] Chr4:2830162 [GRCh38]
Chr4:2831889 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.849C>T (p.Ser283=) single nucleotide variant Fibrous dysplasia of jaw [RCV002209073] Chr4:2829755 [GRCh38]
Chr4:2831482 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1662C>T (p.Pro554=) single nucleotide variant Fibrous dysplasia of jaw [RCV002075955] Chr4:2833810 [GRCh38]
Chr4:2835537 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1407-12_1407-11del deletion Fibrous dysplasia of jaw [RCV002178897] Chr4:2832318..2832319 [GRCh38]
Chr4:2834045..2834046 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.137-7C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002177114] Chr4:2822928 [GRCh38]
Chr4:2824655 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1549-19C>G single nucleotide variant Fibrous dysplasia of jaw [RCV002155909] Chr4:2833678 [GRCh38]
Chr4:2835405 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.587-20C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002104100] Chr4:2829473 [GRCh38]
Chr4:2831200 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.587-19G>C single nucleotide variant Fibrous dysplasia of jaw [RCV002120503] Chr4:2829474 [GRCh38]
Chr4:2831201 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1191G>A (p.Ala397=) single nucleotide variant Fibrous dysplasia of jaw [RCV002182054] Chr4:2830097 [GRCh38]
Chr4:2831824 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.239+10C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002180530] Chr4:2823047 [GRCh38]
Chr4:2824774 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.358-12G>A single nucleotide variant Fibrous dysplasia of jaw [RCV002154021] Chr4:2825114 [GRCh38]
Chr4:2826841 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.240-14C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002102563] Chr4:2824599 [GRCh38]
Chr4:2826326 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.137-11A>G single nucleotide variant Fibrous dysplasia of jaw [RCV002082126] Chr4:2822924 [GRCh38]
Chr4:2824651 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.518-18C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002138079] Chr4:2827588 [GRCh38]
Chr4:2829315 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1281C>T (p.Ser427=) single nucleotide variant Fibrous dysplasia of jaw [RCV002084419] Chr4:2831610 [GRCh38]
Chr4:2833337 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.765G>A (p.Lys255=) single nucleotide variant Fibrous dysplasia of jaw [RCV002158960] Chr4:2829671 [GRCh38]
Chr4:2831398 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1098C>T (p.Asp366=) single nucleotide variant Fibrous dysplasia of jaw [RCV002121262] Chr4:2830004 [GRCh38]
Chr4:2831731 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1644C>T (p.Ser548=) single nucleotide variant Fibrous dysplasia of jaw [RCV002140432] Chr4:2833792 [GRCh38]
Chr4:2835519 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.369C>T (p.Ala123=) single nucleotide variant Fibrous dysplasia of jaw [RCV002156043] Chr4:2825137 [GRCh38]
Chr4:2826864 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.428+8C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002175467] Chr4:2825204 [GRCh38]
Chr4:2826931 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1549-7C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002118106]|SH3BP2-related condition [RCV003984207] Chr4:2833690 [GRCh38]
Chr4:2835417 [GRCh37]
Chr4:4p16.3		 benign|likely benign
NM_001122681.2(SH3BP2):c.702A>C (p.Leu234=) single nucleotide variant Fibrous dysplasia of jaw [RCV002154521] Chr4:2829608 [GRCh38]
Chr4:2831335 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.672C>T (p.His224=) single nucleotide variant Fibrous dysplasia of jaw [RCV002143709] Chr4:2829578 [GRCh38]
Chr4:2831305 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.587-11T>C single nucleotide variant Fibrous dysplasia of jaw [RCV002198839] Chr4:2829482 [GRCh38]
Chr4:2831209 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1489-15G>A single nucleotide variant Fibrous dysplasia of jaw [RCV002217706] Chr4:2832975 [GRCh38]
Chr4:2834702 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.587-4G>T single nucleotide variant Fibrous dysplasia of jaw [RCV002204705] Chr4:2829489 [GRCh38]
Chr4:2831216 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.762C>T (p.Ser254=) single nucleotide variant Fibrous dysplasia of jaw [RCV002199142] Chr4:2829668 [GRCh38]
Chr4:2831395 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1177C>T (p.Pro393Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV003110366] Chr4:2830083 [GRCh38]
Chr4:2831810 [GRCh37]
Chr4:4p16.3		 uncertain significance
NC_000004.11:g.(?_493125)_(3495228_?)dup duplication Fibrous dysplasia of jaw [RCV003113187] Chr4:493125..3495228 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1438C>G (p.Pro480Ala) single nucleotide variant Fibrous dysplasia of jaw [RCV003112731] Chr4:2832362 [GRCh38]
Chr4:2834089 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.569A>C (p.Glu190Ala) single nucleotide variant Fibrous dysplasia of jaw [RCV003117892] Chr4:2827657 [GRCh38]
Chr4:2829384 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.586+11C>T single nucleotide variant Fibrous dysplasia of jaw [RCV003121314] Chr4:2827685 [GRCh38]
Chr4:2829412 [GRCh37]
Chr4:4p16.3		 likely benign
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1 copy number loss See cases [RCV002286339] Chr4:68345..5579467 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12		 pathogenic
NM_001122681.2(SH3BP2):c.8C>T (p.Ala3Val) single nucleotide variant Fibrous dysplasia of jaw [RCV002297457] Chr4:2820625 [GRCh38]
Chr4:2822352 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1576G>T (p.Val526Phe) single nucleotide variant Inborn genetic diseases [RCV002901422] Chr4:2833724 [GRCh38]
Chr4:2835451 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.908C>T (p.Pro303Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV002305251] Chr4:2829814 [GRCh38]
Chr4:2831541 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1388A>G (p.Glu463Gly) single nucleotide variant not provided [RCV002306404] Chr4:2831960 [GRCh38]
Chr4:2833687 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.808G>A (p.Val270Ile) single nucleotide variant Fibrous dysplasia of jaw [RCV002298270] Chr4:2829714 [GRCh38]
Chr4:2831441 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1436A>G (p.Glu479Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV002303187] Chr4:2832360 [GRCh38]
Chr4:2834087 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1445A>G (p.Asp482Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV002297955] Chr4:2832369 [GRCh38]
Chr4:2834096 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1520A>G (p.Lys507Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV002903320] Chr4:2833021 [GRCh38]
Chr4:2834748 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.555G>A (p.Glu185=) single nucleotide variant Fibrous dysplasia of jaw [RCV002751371] Chr4:2827643 [GRCh38]
Chr4:2829370 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1242-12C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002996980] Chr4:2831559 [GRCh38]
Chr4:2833286 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.749C>T (p.Ala250Val) single nucleotide variant Fibrous dysplasia of jaw [RCV002618913] Chr4:2829655 [GRCh38]
Chr4:2831382 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.125A>C (p.Gln42Pro) single nucleotide variant Fibrous dysplasia of jaw [RCV002618157] Chr4:2820742 [GRCh38]
Chr4:2822469 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.13G>A (p.Glu5Lys) single nucleotide variant Fibrous dysplasia of jaw [RCV003507472]|Inborn genetic diseases [RCV002684104] Chr4:2820630 [GRCh38]
Chr4:2822357 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.357+6_357+7del deletion Fibrous dysplasia of jaw [RCV002843447] Chr4:2824736..2824737 [GRCh38]
Chr4:2826463..2826464 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3(chr4:2619318-2849268)x3 copy number gain not provided [RCV002475650] Chr4:2619318..2849268 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.661_710delinsAGAAGGGTG (p.Pro221fs) indel Fibrous dysplasia of jaw [RCV003014761] Chr4:2829567..2829616 [GRCh38]
Chr4:2831294..2831343 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.112G>C (p.Gly38Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV003075160] Chr4:2820729 [GRCh38]
Chr4:2822456 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.228T>G (p.Ser76Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV002730740] Chr4:2823026 [GRCh38]
Chr4:2824753 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1566G>A (p.Leu522=) single nucleotide variant Fibrous dysplasia of jaw [RCV002750243] Chr4:2833714 [GRCh38]
Chr4:2835441 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.428+16G>C single nucleotide variant Fibrous dysplasia of jaw [RCV003002569] Chr4:2825212 [GRCh38]
Chr4:2826939 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1032A>G (p.Pro344=) single nucleotide variant Fibrous dysplasia of jaw [RCV002740326] Chr4:2829938 [GRCh38]
Chr4:2831665 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.761C>G (p.Ser254Cys) single nucleotide variant Fibrous dysplasia of jaw [RCV002824586] Chr4:2829667 [GRCh38]
Chr4:2831394 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1350+12C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002949106] Chr4:2831691 [GRCh38]
Chr4:2833418 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.567G>A (p.Pro189=) single nucleotide variant Fibrous dysplasia of jaw [RCV003018596] Chr4:2827655 [GRCh38]
Chr4:2829382 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.248G>A (p.Arg83Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV002785247] Chr4:2824621 [GRCh38]
Chr4:2826348 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1300C>T (p.Pro434Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV002735885] Chr4:2831629 [GRCh38]
Chr4:2833356 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.665G>A (p.Arg222Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV003078696] Chr4:2829571 [GRCh38]
Chr4:2831298 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.330C>T (p.Phe110=) single nucleotide variant Fibrous dysplasia of jaw [RCV002706234] Chr4:2824703 [GRCh38]
Chr4:2826430 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.789G>T (p.Arg263=) single nucleotide variant Fibrous dysplasia of jaw [RCV002659497] Chr4:2829695 [GRCh38]
Chr4:2831422 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1084A>G (p.Ile362Val) single nucleotide variant Fibrous dysplasia of jaw [RCV002923339] Chr4:2829990 [GRCh38]
Chr4:2831717 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1258G>T (p.Gly420Trp) single nucleotide variant Fibrous dysplasia of jaw [RCV002885323] Chr4:2831587 [GRCh38]
Chr4:2833314 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1589G>T (p.Ser530Ile) single nucleotide variant Fibrous dysplasia of jaw [RCV002781041] Chr4:2833737 [GRCh38]
Chr4:2835464 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.821C>A (p.Pro274His) single nucleotide variant Fibrous dysplasia of jaw [RCV002619111] Chr4:2829727 [GRCh38]
Chr4:2831454 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.357+15G>A single nucleotide variant Fibrous dysplasia of jaw [RCV002756812] Chr4:2824745 [GRCh38]
Chr4:2826472 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.783G>C (p.Pro261=) single nucleotide variant Fibrous dysplasia of jaw [RCV003018595] Chr4:2829689 [GRCh38]
Chr4:2831416 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.703C>T (p.Leu235=) single nucleotide variant Fibrous dysplasia of jaw [RCV002619110] Chr4:2829609 [GRCh38]
Chr4:2831336 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1506C>T (p.Asp502=) single nucleotide variant Fibrous dysplasia of jaw [RCV002591587] Chr4:2833007 [GRCh38]
Chr4:2834734 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1406+6C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002695429] Chr4:2831984 [GRCh38]
Chr4:2833711 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1353G>A (p.Val451=) single nucleotide variant Fibrous dysplasia of jaw [RCV002761462] Chr4:2831925 [GRCh38]
Chr4:2833652 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.586G>T (p.Asp196Tyr) single nucleotide variant Fibrous dysplasia of jaw [RCV002639575] Chr4:2827674 [GRCh38]
Chr4:2829401 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1371C>G (p.Val457=) single nucleotide variant Fibrous dysplasia of jaw [RCV002846426] Chr4:2831943 [GRCh38]
Chr4:2833670 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.-4-8168C>T single nucleotide variant Inborn genetic diseases [RCV002693684] Chr4:2812446 [GRCh38]
Chr4:2814173 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.378C>T (p.Arg126=) single nucleotide variant Fibrous dysplasia of jaw [RCV003038332] Chr4:2825146 [GRCh38]
Chr4:2826873 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.233A>G (p.Tyr78Cys) single nucleotide variant Inborn genetic diseases [RCV002870038] Chr4:2823031 [GRCh38]
Chr4:2824758 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.-4-2360T>G single nucleotide variant Inborn genetic diseases [RCV002980256] Chr4:2818254 [GRCh38]
Chr4:2819981 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1549-19_1549-17del deletion Fibrous dysplasia of jaw [RCV002781343] Chr4:2833676..2833678 [GRCh38]
Chr4:2835403..2835405 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.361T>A (p.Trp121Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV002824392] Chr4:2825129 [GRCh38]
Chr4:2826856 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1392C>T (p.Ser464=) single nucleotide variant Fibrous dysplasia of jaw [RCV003038006] Chr4:2831964 [GRCh38]
Chr4:2833691 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1005G>T (p.Lys335Asn) single nucleotide variant Fibrous dysplasia of jaw [RCV002619001] Chr4:2829911 [GRCh38]
Chr4:2831638 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.-4-2381T>G single nucleotide variant Inborn genetic diseases [RCV002713536] Chr4:2818233 [GRCh38]
Chr4:2819960 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.573C>G (p.Pro191=) single nucleotide variant Fibrous dysplasia of jaw [RCV002575495] Chr4:2827661 [GRCh38]
Chr4:2829388 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.824G>A (p.Arg275Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV003507468]|Inborn genetic diseases [RCV002713564] Chr4:2829730 [GRCh38]
Chr4:2831457 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.194C>T (p.Thr65Ile) single nucleotide variant Fibrous dysplasia of jaw [RCV002786586] Chr4:2822992 [GRCh38]
Chr4:2824719 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1635C>T (p.Ser545=) single nucleotide variant Fibrous dysplasia of jaw [RCV002574470] Chr4:2833783 [GRCh38]
Chr4:2835510 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.429-18A>C single nucleotide variant Fibrous dysplasia of jaw [RCV002871825] Chr4:2827212 [GRCh38]
Chr4:2828939 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1611C>T (p.His537=) single nucleotide variant Fibrous dysplasia of jaw [RCV002625193] Chr4:2833759 [GRCh38]
Chr4:2835486 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1549-15del deletion Fibrous dysplasia of jaw [RCV002890898] Chr4:2833681 [GRCh38]
Chr4:2835408 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.428+12C>A single nucleotide variant Fibrous dysplasia of jaw [RCV002710101] Chr4:2825208 [GRCh38]
Chr4:2826935 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.-4-2315G>A single nucleotide variant Inborn genetic diseases [RCV002984546] Chr4:2818299 [GRCh38]
Chr4:2820026 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.357+17G>A single nucleotide variant Fibrous dysplasia of jaw [RCV003085562] Chr4:2824747 [GRCh38]
Chr4:2826474 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1319G>A (p.Gly440Asp) single nucleotide variant Inborn genetic diseases [RCV002954816] Chr4:2831648 [GRCh38]
Chr4:2833375 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1230C>T (p.Leu410=) single nucleotide variant Fibrous dysplasia of jaw [RCV002595630] Chr4:2830136 [GRCh38]
Chr4:2831863 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.239+19T>C single nucleotide variant Fibrous dysplasia of jaw [RCV002918844] Chr4:2823056 [GRCh38]
Chr4:2824783 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.320C>T (p.Thr107Met) single nucleotide variant Fibrous dysplasia of jaw [RCV002664333] Chr4:2824693 [GRCh38]
Chr4:2826420 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.707C>A (p.Pro236Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV003028053] Chr4:2829613 [GRCh38]
Chr4:2831340 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.771C>T (p.Asp257=) single nucleotide variant Fibrous dysplasia of jaw [RCV003048161] Chr4:2829677 [GRCh38]
Chr4:2831404 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.67A>T (p.Met23Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV002581992] Chr4:2820684 [GRCh38]
Chr4:2822411 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.143T>C (p.Leu48Pro) single nucleotide variant Fibrous dysplasia of jaw [RCV002631154] Chr4:2822941 [GRCh38]
Chr4:2824668 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1233G>T (p.Pro411=) single nucleotide variant Fibrous dysplasia of jaw [RCV002602316] Chr4:2830139 [GRCh38]
Chr4:2831866 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.462C>T (p.Gly154=) single nucleotide variant Fibrous dysplasia of jaw [RCV002675906] Chr4:2827263 [GRCh38]
Chr4:2828990 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1342T>C (p.Tyr448His) single nucleotide variant Fibrous dysplasia of jaw [RCV002630481]|not provided [RCV003481320] Chr4:2831671 [GRCh38]
Chr4:2833398 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1108_1109delinsAG (p.Glu370Arg) indel Fibrous dysplasia of jaw [RCV002746002] Chr4:2830014..2830015 [GRCh38]
Chr4:2831741..2831742 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1406+15C>G single nucleotide variant Fibrous dysplasia of jaw [RCV002856307] Chr4:2831993 [GRCh38]
Chr4:2833720 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.986G>A (p.Arg329Lys) single nucleotide variant Fibrous dysplasia of jaw [RCV002599837] Chr4:2829892 [GRCh38]
Chr4:2831619 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.655G>C (p.Asp219His) single nucleotide variant Fibrous dysplasia of jaw [RCV002628484] Chr4:2829561 [GRCh38]
Chr4:2831288 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.693C>T (p.Pro231=) single nucleotide variant Fibrous dysplasia of jaw [RCV003089237] Chr4:2829599 [GRCh38]
Chr4:2831326 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.172G>A (p.Val58Ile) single nucleotide variant Fibrous dysplasia of jaw [RCV003088189]|Inborn genetic diseases [RCV003358090] Chr4:2822970 [GRCh38]
Chr4:2824697 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.334G>T (p.Ala112Ser) single nucleotide variant Inborn genetic diseases [RCV002855762] Chr4:2824707 [GRCh38]
Chr4:2826434 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.963C>T (p.Ala321=) single nucleotide variant Fibrous dysplasia of jaw [RCV002963100] Chr4:2829869 [GRCh38]
Chr4:2831596 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.586+12G>A single nucleotide variant Fibrous dysplasia of jaw [RCV002988778] Chr4:2827686 [GRCh38]
Chr4:2829413 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.694G>A (p.Gly232Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV002939069]|Inborn genetic diseases [RCV003269340] Chr4:2829600 [GRCh38]
Chr4:2831327 [GRCh37]
Chr4:4p16.3		 likely benign|uncertain significance
NM_001122681.2(SH3BP2):c.643C>T (p.Pro215Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV002966242] Chr4:2829549 [GRCh38]
Chr4:2831276 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.814G>A (p.Ala272Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV002647031] Chr4:2829720 [GRCh38]
Chr4:2831447 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1332G>C (p.Ser444=) single nucleotide variant Fibrous dysplasia of jaw [RCV003011402] Chr4:2831661 [GRCh38]
Chr4:2833388 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1623C>G (p.His541Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV002649447] Chr4:2833771 [GRCh38]
Chr4:2835498 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.303C>T (p.Ile101=) single nucleotide variant Fibrous dysplasia of jaw [RCV003045002] Chr4:2824676 [GRCh38]
Chr4:2826403 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.429-15C>T single nucleotide variant Fibrous dysplasia of jaw [RCV002966143] Chr4:2827215 [GRCh38]
Chr4:2828942 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1223C>T (p.Pro408Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV003065239] Chr4:2830129 [GRCh38]
Chr4:2831856 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1524G>A (p.Val508=) single nucleotide variant Fibrous dysplasia of jaw [RCV003061678] Chr4:2833025 [GRCh38]
Chr4:2834752 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.517+16G>A single nucleotide variant Fibrous dysplasia of jaw [RCV003009503] Chr4:2827334 [GRCh38]
Chr4:2829061 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.882C>G (p.Pro294=) single nucleotide variant Fibrous dysplasia of jaw [RCV002582650] Chr4:2829788 [GRCh38]
Chr4:2831515 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1206G>A (p.Leu402=) single nucleotide variant Fibrous dysplasia of jaw [RCV003052225] Chr4:2830112 [GRCh38]
Chr4:2831839 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1350+13G>A single nucleotide variant Fibrous dysplasia of jaw [RCV002658245] Chr4:2831692 [GRCh38]
Chr4:2833419 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1172C>T (p.Pro391Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV002583184] Chr4:2830078 [GRCh38]
Chr4:2831805 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.432C>G (p.Asp144Glu) single nucleotide variant Fibrous dysplasia of jaw [RCV002584472]|Inborn genetic diseases [RCV002584473] Chr4:2827233 [GRCh38]
Chr4:2828960 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.983C>G (p.Ser328Cys) single nucleotide variant Fibrous dysplasia of jaw [RCV002721553] Chr4:2829889 [GRCh38]
Chr4:2831616 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.749_750delinsTG (p.Ala250Val) indel Fibrous dysplasia of jaw [RCV002609606] Chr4:2829655..2829656 [GRCh38]
Chr4:2831382..2831383 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.453C>T (p.Ser151=) single nucleotide variant Fibrous dysplasia of jaw [RCV002608822] Chr4:2827254 [GRCh38]
Chr4:2828981 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.205C>T (p.Pro69Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV002590005] Chr4:2823003 [GRCh38]
Chr4:2824730 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.614C>A (p.Pro205Gln) single nucleotide variant Inborn genetic diseases [RCV003309466] Chr4:2829520 [GRCh38]
Chr4:2831247 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1		 pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11		 pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12		 pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32		 pathogenic
NM_001122681.2(SH3BP2):c.517+8C>T single nucleotide variant Fibrous dysplasia of jaw [RCV003874065] Chr4:2827326 [GRCh38]
Chr4:2829053 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.167G>T (p.Arg56Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV003875510] Chr4:2822965 [GRCh38]
Chr4:2824692 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3 copy number gain not provided [RCV003484164] Chr4:68346..7171784 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3(chr4:2841240-3197933)x3 copy number gain not provided [RCV003484168] Chr4:2841240..3197933 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.59T>A (p.Leu20Gln) single nucleotide variant SH3BP2-related condition [RCV003406261] Chr4:2820676 [GRCh38]
Chr4:2822403 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.*6398dup duplication not provided [RCV003439216] Chr4:2840224..2840225 [GRCh38]
Chr4:2841951..2841952 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.49G>A (p.Ala17Thr) single nucleotide variant SH3BP2-related condition [RCV003406132] Chr4:2820666 [GRCh38]
Chr4:2822393 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.467T>C (p.Val156Ala) single nucleotide variant Fibrous dysplasia of jaw [RCV003508645] Chr4:2827268 [GRCh38]
Chr4:2828995 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.726C>T (p.His242=) single nucleotide variant Fibrous dysplasia of jaw [RCV003881440] Chr4:2829632 [GRCh38]
Chr4:2831359 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.399C>T (p.His133=) single nucleotide variant Fibrous dysplasia of jaw [RCV003830988] Chr4:2825167 [GRCh38]
Chr4:2826894 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1216G>C (p.Glu406Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV003827519] Chr4:2830122 [GRCh38]
Chr4:2831849 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.428+20A>C single nucleotide variant Fibrous dysplasia of jaw [RCV003507952] Chr4:2825216 [GRCh38]
Chr4:2826943 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1482G>A (p.Ser494=) single nucleotide variant Fibrous dysplasia of jaw [RCV003878514] Chr4:2832406 [GRCh38]
Chr4:2834133 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1679C>T (p.Pro560Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV003508083] Chr4:2833827 [GRCh38]
Chr4:2835554 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1489-4G>A single nucleotide variant Fibrous dysplasia of jaw [RCV003508237] Chr4:2832986 [GRCh38]
Chr4:2834713 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.837T>A (p.Asp279Glu) single nucleotide variant Fibrous dysplasia of jaw [RCV003508337] Chr4:2829743 [GRCh38]
Chr4:2831470 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1522G>A (p.Val508Met) single nucleotide variant Fibrous dysplasia of jaw [RCV003507027] Chr4:2833023 [GRCh38]
Chr4:2834750 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1549-14C>T single nucleotide variant Fibrous dysplasia of jaw [RCV003508688] Chr4:2833683 [GRCh38]
Chr4:2835410 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.879A>C (p.Lys293Asn) single nucleotide variant Fibrous dysplasia of jaw [RCV003508009] Chr4:2829785 [GRCh38]
Chr4:2831512 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.296T>A (p.Ile99Asn) single nucleotide variant Fibrous dysplasia of jaw [RCV003508819] Chr4:2824669 [GRCh38]
Chr4:2826396 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1585G>T (p.Val529Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV003507007] Chr4:2833733 [GRCh38]
Chr4:2835460 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1491C>G (p.Val497=) single nucleotide variant Fibrous dysplasia of jaw [RCV003508031] Chr4:2832992 [GRCh38]
Chr4:2834719 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1154C>T (p.Pro385Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV003508032] Chr4:2830060 [GRCh38]
Chr4:2831787 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.503C>G (p.Pro168Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV003507205] Chr4:2827304 [GRCh38]
Chr4:2829031 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.984C>T (p.Ser328=) single nucleotide variant Fibrous dysplasia of jaw [RCV003508110] Chr4:2829890 [GRCh38]
Chr4:2831617 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1548+9G>T single nucleotide variant Fibrous dysplasia of jaw [RCV003508954] Chr4:2833058 [GRCh38]
Chr4:2834785 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1440C>G (p.Pro480=) single nucleotide variant Fibrous dysplasia of jaw [RCV003508546] Chr4:2832364 [GRCh38]
Chr4:2834091 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1169T>C (p.Leu390Pro) single nucleotide variant Fibrous dysplasia of jaw [RCV003507761] Chr4:2830075 [GRCh38]
Chr4:2831802 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.936C>T (p.His312=) single nucleotide variant Fibrous dysplasia of jaw [RCV003508554] Chr4:2829842 [GRCh38]
Chr4:2831569 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1157C>T (p.Pro386Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV003825901] Chr4:2830063 [GRCh38]
Chr4:2831790 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.586+9G>A single nucleotide variant Fibrous dysplasia of jaw [RCV003507777] Chr4:2827683 [GRCh38]
Chr4:2829410 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1102C>T (p.Pro368Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV003508703] Chr4:2830008 [GRCh38]
Chr4:2831735 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1572C>T (p.Gly524=) single nucleotide variant Fibrous dysplasia of jaw [RCV003882704] Chr4:2833720 [GRCh38]
Chr4:2835447 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1458C>A (p.Cys486Ter) single nucleotide variant Fibrous dysplasia of jaw [RCV003507812] Chr4:2832382 [GRCh38]
Chr4:2834109 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.359G>A (p.Ser120Asn) single nucleotide variant Fibrous dysplasia of jaw [RCV003506749] Chr4:2825127 [GRCh38]
Chr4:2826854 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.498G>A (p.Pro166=) single nucleotide variant Fibrous dysplasia of jaw [RCV003876188] Chr4:2827299 [GRCh38]
Chr4:2829026 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1296G>A (p.Arg432=) single nucleotide variant Fibrous dysplasia of jaw [RCV003508469] Chr4:2831625 [GRCh38]
Chr4:2833352 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.496C>T (p.Pro166Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV003835226] Chr4:2827297 [GRCh38]
Chr4:2829024 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.701_712del (p.Leu234_Pro237del) deletion Fibrous dysplasia of jaw [RCV003834576] Chr4:2829603..2829614 [GRCh38]
Chr4:2831330..2831341 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1343A>T (p.Tyr448Phe) single nucleotide variant Fibrous dysplasia of jaw [RCV003619272] Chr4:2831672 [GRCh38]
Chr4:2833399 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1425C>G (p.Ser475Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV003620770] Chr4:2832349 [GRCh38]
Chr4:2834076 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1242-7C>T single nucleotide variant Fibrous dysplasia of jaw [RCV003620796] Chr4:2831564 [GRCh38]
Chr4:2833291 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1145C>G (p.Ala382Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV003620799] Chr4:2830051 [GRCh38]
Chr4:2831778 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.518-14C>T single nucleotide variant Fibrous dysplasia of jaw [RCV003619957] Chr4:2827592 [GRCh38]
Chr4:2829319 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1293C>G (p.Pro431=) single nucleotide variant Fibrous dysplasia of jaw [RCV003620311] Chr4:2831622 [GRCh38]
Chr4:2833349 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.240-17del deletion Fibrous dysplasia of jaw [RCV003815900] Chr4:2824596 [GRCh38]
Chr4:2826323 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.783G>A (p.Pro261=) single nucleotide variant Fibrous dysplasia of jaw [RCV003852642] Chr4:2829689 [GRCh38]
Chr4:2831416 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.239+18C>T single nucleotide variant Fibrous dysplasia of jaw [RCV003851176] Chr4:2823055 [GRCh38]
Chr4:2824782 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.518-14del deletion Fibrous dysplasia of jaw [RCV003619242] Chr4:2827587 [GRCh38]
Chr4:2829314 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.341C>T (p.Ser114Phe) single nucleotide variant Fibrous dysplasia of jaw [RCV003620447] Chr4:2824714 [GRCh38]
Chr4:2826441 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.230G>C (p.Gly77Ala) single nucleotide variant Fibrous dysplasia of jaw [RCV003620727] Chr4:2823028 [GRCh38]
Chr4:2824755 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1620C>T (p.Thr540=) single nucleotide variant Fibrous dysplasia of jaw [RCV003620496] Chr4:2833768 [GRCh38]
Chr4:2835495 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.884C>T (p.Pro295Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV003620747] Chr4:2829790 [GRCh38]
Chr4:2831517 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1024C>T (p.Arg342Ter) single nucleotide variant Fibrous dysplasia of jaw [RCV003856518]|SH3BP2-related condition [RCV003893517] Chr4:2829930 [GRCh38]
Chr4:2831657 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.279T>C (p.Val93=) single nucleotide variant Fibrous dysplasia of jaw [RCV003620920] Chr4:2824652 [GRCh38]
Chr4:2826379 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.619C>T (p.Pro207Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV003620073] Chr4:2829525 [GRCh38]
Chr4:2831252 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1406+11A>G single nucleotide variant Fibrous dysplasia of jaw [RCV003620096] Chr4:2831989 [GRCh38]
Chr4:2833716 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1310C>T (p.Ala437Val) single nucleotide variant Fibrous dysplasia of jaw [RCV003620477] Chr4:2831639 [GRCh38]
Chr4:2833366 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1554dup (p.Lys519Ter) duplication Fibrous dysplasia of jaw [RCV003620284] Chr4:2833701..2833702 [GRCh38]
Chr4:2835428..2835429 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.716C>G (p.Pro239Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV003620555] Chr4:2829622 [GRCh38]
Chr4:2831349 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1061C>A (p.Ala354Asp) single nucleotide variant Fibrous dysplasia of jaw [RCV003620536] Chr4:2829967 [GRCh38]
Chr4:2831694 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.298C>T (p.His100Tyr) single nucleotide variant Fibrous dysplasia of jaw [RCV003620628] Chr4:2824671 [GRCh38]
Chr4:2826398 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1261C>T (p.Gln421Ter) single nucleotide variant Fibrous dysplasia of jaw [RCV003619416] Chr4:2831590 [GRCh38]
Chr4:2833317 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1071C>T (p.Pro357=) single nucleotide variant Fibrous dysplasia of jaw [RCV003619428] Chr4:2829977 [GRCh38]
Chr4:2831704 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1045C>T (p.Pro349Ser) single nucleotide variant Fibrous dysplasia of jaw [RCV003619495] Chr4:2829951 [GRCh38]
Chr4:2831678 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1242-16C>T single nucleotide variant Fibrous dysplasia of jaw [RCV003620171] Chr4:2831555 [GRCh38]
Chr4:2833282 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.416C>T (p.Pro139Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV003620182] Chr4:2825184 [GRCh38]
Chr4:2826911 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1252C>G (p.Pro418Ala) single nucleotide variant Fibrous dysplasia of jaw [RCV003619557] Chr4:2831581 [GRCh38]
Chr4:2833308 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.332C>T (p.Ser111Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV003619445] Chr4:2824705 [GRCh38]
Chr4:2826432 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1186A>G (p.Met396Val) single nucleotide variant Fibrous dysplasia of jaw [RCV003855687] Chr4:2830092 [GRCh38]
Chr4:2831819 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1137C>T (p.Pro379=) single nucleotide variant Fibrous dysplasia of jaw [RCV003620266] Chr4:2830043 [GRCh38]
Chr4:2831770 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1682G>C (p.Arg561Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV003620268] Chr4:2833830 [GRCh38]
Chr4:2835557 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.835G>A (p.Asp279Asn) single nucleotide variant Fibrous dysplasia of jaw [RCV003835668] Chr4:2829741 [GRCh38]
Chr4:2831468 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1118T>C (p.Met373Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV003620305] Chr4:2830024 [GRCh38]
Chr4:2831751 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1299A>C (p.Gln433His) single nucleotide variant Fibrous dysplasia of jaw [RCV003619868] Chr4:2831628 [GRCh38]
Chr4:2833355 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1656G>A (p.Arg552=) single nucleotide variant Fibrous dysplasia of jaw [RCV003619986] Chr4:2833804 [GRCh38]
Chr4:2835531 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.1503G>C (p.Trp501Cys) single nucleotide variant Fibrous dysplasia of jaw [RCV003619164] Chr4:2833004 [GRCh38]
Chr4:2834731 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.836A>G (p.Asp279Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV003620037] Chr4:2829742 [GRCh38]
Chr4:2831469 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.874C>G (p.Arg292Gly) single nucleotide variant Fibrous dysplasia of jaw [RCV003620026] Chr4:2829780 [GRCh38]
Chr4:2831507 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.39G>A (p.Lys13=) single nucleotide variant Fibrous dysplasia of jaw [RCV003620365] Chr4:2820656 [GRCh38]
Chr4:2822383 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.518-15C>A single nucleotide variant Fibrous dysplasia of jaw [RCV003620472] Chr4:2827591 [GRCh38]
Chr4:2829318 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.335C>T (p.Ala112Val) single nucleotide variant Fibrous dysplasia of jaw [RCV003837078] Chr4:2824708 [GRCh38]
Chr4:2826435 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.136+14del deletion Fibrous dysplasia of jaw [RCV003619249] Chr4:2820764 [GRCh38]
Chr4:2822491 [GRCh37]
Chr4:4p16.3		 benign
NM_001122681.2(SH3BP2):c.1649T>G (p.Leu550Arg) single nucleotide variant Fibrous dysplasia of jaw [RCV003834374] Chr4:2833797 [GRCh38]
Chr4:2835524 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.136+5G>A single nucleotide variant Fibrous dysplasia of jaw [RCV003621423] Chr4:2820758 [GRCh38]
Chr4:2822485 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.946T>A (p.Ser316Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV003621433] Chr4:2829852 [GRCh38]
Chr4:2831579 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.343_345delinsTCC (p.Glu115Ser) indel Fibrous dysplasia of jaw [RCV003621467] Chr4:2824716..2824718 [GRCh38]
Chr4:2826443..2826445 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.806G>C (p.Arg269Thr) single nucleotide variant Fibrous dysplasia of jaw [RCV003621239] Chr4:2829712 [GRCh38]
Chr4:2831439 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.1208C>T (p.Pro403Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV003859432] Chr4:2830114 [GRCh38]
Chr4:2831841 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.24G>C (p.Trp8Cys) single nucleotide variant Fibrous dysplasia of jaw [RCV003621353] Chr4:2820641 [GRCh38]
Chr4:2822368 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1 copy number loss not specified [RCV003986488] Chr4:68345..21143236 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3510024)x1 copy number loss not specified [RCV003986499] Chr4:68345..3510024 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1 copy number loss not specified [RCV003986500] Chr4:68345..7923907 [GRCh37]
Chr4:4p16.3-16.1		 pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1 copy number loss not specified [RCV003986512] Chr4:68345..19103550 [GRCh37]
Chr4:4p16.3-15.31		 pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1 copy number loss not specified [RCV003986508] Chr4:68345..4611819 [GRCh37]
Chr4:4p16.3-16.2		 pathogenic
GRCh37/hg19 4p16.3(chr4:68346-3122209)x1 copy number loss not specified [RCV003986538] Chr4:68346..3122209 [GRCh37]
Chr4:4p16.3		 pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1 copy number loss not specified [RCV003986510] Chr4:68345..14083766 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_001122681.2(SH3BP2):c.374T>A (p.Leu125Gln) single nucleotide variant Fibrous dysplasia of jaw [RCV003621453] Chr4:2825142 [GRCh38]
Chr4:2826869 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.980C>T (p.Thr327Ile) single nucleotide variant Fibrous dysplasia of jaw [RCV003867820] Chr4:2829886 [GRCh38]
Chr4:2831613 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.968_973del (p.Met323_Ala324del) deletion Fibrous dysplasia of jaw [RCV003847147] Chr4:2829872..2829877 [GRCh38]
Chr4:2831599..2831604 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.411C>G (p.Asp137Glu) single nucleotide variant Fibrous dysplasia of jaw [RCV003621199] Chr4:2825179 [GRCh38]
Chr4:2826906 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.705G>A (p.Leu235=) single nucleotide variant Fibrous dysplasia of jaw [RCV003621141] Chr4:2829611 [GRCh38]
Chr4:2831338 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.244A>T (p.Met82Leu) single nucleotide variant Fibrous dysplasia of jaw [RCV003621463] Chr4:2824617 [GRCh38]
Chr4:2826344 [GRCh37]
Chr4:4p16.3		 uncertain significance
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1 copy number loss not provided [RCV003885506] Chr4:85622..13316942 [GRCh37]
Chr4:4p16.3-15.33		 pathogenic
NM_001122681.2(SH3BP2):c.-4-8148C>T single nucleotide variant SH3BP2-related condition [RCV003979535] Chr4:2812466 [GRCh38]
Chr4:2814193 [GRCh37]
Chr4:4p16.3		 likely benign
NM_001122681.2(SH3BP2):c.-4-2344C>T single nucleotide variant SH3BP2-related condition [RCV003939830] Chr4:2818270 [GRCh38]
Chr4:2819997 [GRCh37]
Chr4:4p16.3		 uncertain significance
NM_001122681.2(SH3BP2):c.240-7C>G single nucleotide variant SH3BP2-related condition [RCV003906802] Chr4:2824606 [GRCh38]
Chr4:2826333 [GRCh37]
Chr4:4p16.3		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR939hsa-miR-939-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:22339
Count of miRNA genes:1479
Interacting mature miRNAs:2041
Transcripts:ENST00000356331, ENST00000389838, ENST00000435136, ENST00000442312, ENST00000452765, ENST00000502260, ENST00000503219, ENST00000503393, ENST00000504294, ENST00000504450, ENST00000505941, ENST00000506932, ENST00000508338, ENST00000508385, ENST00000509677, ENST00000510074, ENST00000510193, ENST00000510204, ENST00000511185, ENST00000511237, ENST00000511663, ENST00000511747, ENST00000512014, ENST00000512131, ENST00000513020, ENST00000513069, ENST00000513095, ENST00000515183, ENST00000515737, ENST00000515802
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
D4S3283  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,835,761 - 2,835,900UniSTSGRCh37
Build 3642,805,559 - 2,805,698RGDNCBI36
Celera42,746,962 - 2,747,101RGD
Cytogenetic Map4p16.3UniSTS
TNG Radiation Hybrid Map41521.0UniSTS
Stanford-G3 RH Map4201.0UniSTS
NCBI RH Map454.7UniSTS
GeneMap99-G3 RH Map4185.0UniSTS
STS-H16766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,838,577 - 2,838,750UniSTSGRCh37
Build 3642,808,375 - 2,808,548RGDNCBI36
Celera42,749,778 - 2,749,951RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,777,289 - 2,777,462UniSTS
TNG Radiation Hybrid Map41501.0UniSTS
GeneMap99-GB4 RH Map428.11UniSTS
NCBI RH Map465.7UniSTS
D4S182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,813,325 - 2,813,539UniSTSGRCh37
Build 3642,783,123 - 2,783,337RGDNCBI36
Celera42,724,553 - 2,724,767RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,752,204 - 2,752,418UniSTS
SH3BP2__6823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,840,148 - 2,841,011UniSTSGRCh37
Build 3642,809,946 - 2,810,809RGDNCBI36
Celera42,751,349 - 2,752,212RGD
HuRef42,778,860 - 2,779,466UniSTS
RH68130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,835,537 - 2,835,725UniSTSGRCh37
Build 3642,805,335 - 2,805,523RGDNCBI36
Celera42,746,738 - 2,746,926RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,774,249 - 2,774,437UniSTS
GeneMap99-GB4 RH Map431.36UniSTS
NCBI RH Map468.1UniSTS
SHGC-68227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3742,838,482 - 2,838,625UniSTSGRCh37
Build 3642,808,280 - 2,808,423RGDNCBI36
Celera42,749,683 - 2,749,826RGD
Cytogenetic Map4p16.3UniSTS
HuRef42,777,194 - 2,777,337UniSTS
GeneMap99-GB4 RH Map428.11UniSTS
NCBI RH Map465.7UniSTS
L30021  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map2q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map6q21UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
L17971  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic MapXq22UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map20p11.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map9q34.13UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
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Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


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
Medium 1422 1148 1018 322 1774 212 2899 452 1148 273 871 1394 119 1143 1435 3
Low 1013 1839 706 302 170 252 1456 1743 2563 146 587 219 53 61 1353 1 2
Below cutoff 1 1 1 6 1 1 19 2 3 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB000462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB000463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF000936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK124073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312286 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022996 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ834812 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC391267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ900977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U56386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000356331   ⟹   ENSP00000348685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,818,814 - 2,841,098 (+)Ensembl
RefSeq Acc Id: ENST00000435136   ⟹   ENSP00000403231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,812,291 - 2,841,096 (+)Ensembl
RefSeq Acc Id: ENST00000452765   ⟹   ENSP00000409746
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,832,345 - 2,834,026 (+)Ensembl
RefSeq Acc Id: ENST00000502260   ⟹   ENSP00000425537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,812,290 - 2,825,196 (+)Ensembl
RefSeq Acc Id: ENST00000503219   ⟹   ENSP00000422796
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,793,071 - 2,825,196 (+)Ensembl
RefSeq Acc Id: ENST00000503393   ⟹   ENSP00000422168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,793,085 - 2,841,096 (+)Ensembl
RefSeq Acc Id: ENST00000504294   ⟹   ENSP00000423275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,798,564 - 2,827,318 (+)Ensembl
RefSeq Acc Id: ENST00000504450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,826,850 - 2,833,048 (+)Ensembl
RefSeq Acc Id: ENST00000505941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,824,751 - 2,829,805 (+)Ensembl
RefSeq Acc Id: ENST00000506932
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,820,669 - 2,824,782 (+)Ensembl
RefSeq Acc Id: ENST00000508338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,814,834 - 2,818,225 (+)Ensembl
RefSeq Acc Id: ENST00000508385   ⟹   ENSP00000424917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,798,998 - 2,827,652 (+)Ensembl
RefSeq Acc Id: ENST00000509677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,818,716 - 2,825,101 (+)Ensembl
RefSeq Acc Id: ENST00000510074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,794,159 - 2,824,914 (+)Ensembl
RefSeq Acc Id: ENST00000510193
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,793,724 - 2,796,646 (+)Ensembl
RefSeq Acc Id: ENST00000510204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,826,325 - 2,834,289 (+)Ensembl
RefSeq Acc Id: ENST00000511185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,812,301 - 2,827,296 (+)Ensembl
RefSeq Acc Id: ENST00000511237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,794,159 - 2,824,782 (+)Ensembl
RefSeq Acc Id: ENST00000511663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,809,779 - 2,827,317 (+)Ensembl
RefSeq Acc Id: ENST00000511747   ⟹   ENSP00000424846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,818,185 - 2,834,289 (+)Ensembl
RefSeq Acc Id: ENST00000512014   ⟹   ENSP00000424105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,811,798 - 2,827,670 (+)Ensembl
RefSeq Acc Id: ENST00000512131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,793,072 - 2,824,917 (+)Ensembl
RefSeq Acc Id: ENST00000513020   ⟹   ENSP00000424072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,799,069 - 2,825,220 (+)Ensembl
RefSeq Acc Id: ENST00000513069   ⟹   ENSP00000426818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,829,797 - 2,833,960 (+)Ensembl
RefSeq Acc Id: ENST00000513095   ⟹   ENSP00000423823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,811,930 - 2,825,178 (+)Ensembl
RefSeq Acc Id: ENST00000515183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,824,665 - 2,829,734 (+)Ensembl
RefSeq Acc Id: ENST00000515737   ⟹   ENSP00000422605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,818,814 - 2,834,287 (+)Ensembl
RefSeq Acc Id: ENST00000515802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl42,826,696 - 2,834,289 (+)Ensembl
RefSeq Acc Id: NM_001122681   ⟹   NP_001116153
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,793,085 - 2,841,096 (+)NCBI
GRCh3742,794,750 - 2,842,823 (+)NCBI
HuRef42,733,534 - 2,781,278 (+)ENTREZGENE
CHM1_142,792,693 - 2,840,796 (+)NCBI
T2T-CHM13v2.042,791,852 - 2,839,552 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001145855   ⟹   NP_001139327
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,812,291 - 2,841,096 (+)NCBI
GRCh3742,794,750 - 2,842,823 (+)NCBI
HuRef42,733,534 - 2,781,278 (+)ENTREZGENE
CHM1_142,811,597 - 2,840,796 (+)NCBI
T2T-CHM13v2.042,810,772 - 2,839,552 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001145856   ⟹   NP_001139328
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,818,170 - 2,841,096 (+)NCBI
GRCh3742,794,750 - 2,842,823 (+)NCBI
HuRef42,733,534 - 2,781,278 (+)ENTREZGENE
CHM1_142,817,567 - 2,840,796 (+)NCBI
T2T-CHM13v2.042,816,653 - 2,839,552 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003023   ⟹   NP_003014
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,818,814 - 2,841,096 (+)NCBI
GRCh3742,794,750 - 2,842,823 (+)ENTREZGENE
GRCh3742,794,750 - 2,842,823 (+)NCBI
Build 3642,790,339 - 2,810,712 (+)NCBI Archive
HuRef42,733,534 - 2,781,278 (+)ENTREZGENE
CHM1_142,818,522 - 2,840,796 (+)NCBI
T2T-CHM13v2.042,817,297 - 2,839,552 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001116153 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139327 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139328 (Get FASTA)   NCBI Sequence Viewer  
  NP_003014 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB59973 (Get FASTA)   NCBI Sequence Viewer  
  AAB72034 (Get FASTA)   NCBI Sequence Viewer  
  AAH22996 (Get FASTA)   NCBI Sequence Viewer  
  ADO22494 (Get FASTA)   NCBI Sequence Viewer  
  BAA19119 (Get FASTA)   NCBI Sequence Viewer  
  BAA19120 (Get FASTA)   NCBI Sequence Viewer  
  BAC85767 (Get FASTA)   NCBI Sequence Viewer  
  BAC86582 (Get FASTA)   NCBI Sequence Viewer  
  BAG35213 (Get FASTA)   NCBI Sequence Viewer  
  BAG61816 (Get FASTA)   NCBI Sequence Viewer  
  BAH14252 (Get FASTA)   NCBI Sequence Viewer  
  CAH05621 (Get FASTA)   NCBI Sequence Viewer  
  EAW82506 (Get FASTA)   NCBI Sequence Viewer  
  EAW82507 (Get FASTA)   NCBI Sequence Viewer  
  EAW82508 (Get FASTA)   NCBI Sequence Viewer  
  EAW82509 (Get FASTA)   NCBI Sequence Viewer  
  EAW82510 (Get FASTA)   NCBI Sequence Viewer  
  EAW82511 (Get FASTA)   NCBI Sequence Viewer  
  EAW82512 (Get FASTA)   NCBI Sequence Viewer  
  EAW82513 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000348685
  ENSP00000348685.5
  ENSP00000403231
  ENSP00000403231.3
  ENSP00000409746.3
  ENSP00000422168
  ENSP00000422168.3
  ENSP00000422605.1
  ENSP00000422796.1
  ENSP00000423275.1
  ENSP00000423823.1
  ENSP00000424072.1
  ENSP00000424105.1
  ENSP00000424846
  ENSP00000424846.2
  ENSP00000424917.1
  ENSP00000425537.1
  ENSP00000426818.1
GenBank Protein P78314 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001116153   ⟸   NM_001122681
- Peptide Label: isoform a
- UniProtKB: O15373 (UniProtKB/Swiss-Prot),   O00500 (UniProtKB/Swiss-Prot),   D6R919 (UniProtKB/Swiss-Prot),   D3DVR0 (UniProtKB/Swiss-Prot),   B4DT04 (UniProtKB/Swiss-Prot),   B2R5R6 (UniProtKB/Swiss-Prot),   A6NNC2 (UniProtKB/Swiss-Prot),   P78315 (UniProtKB/Swiss-Prot),   P78314 (UniProtKB/Swiss-Prot),   A0A384N6E5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139327   ⟸   NM_001145855
- Peptide Label: isoform c
- UniProtKB: P78314 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003014   ⟸   NM_003023
- Peptide Label: isoform a
- UniProtKB: O15373 (UniProtKB/Swiss-Prot),   O00500 (UniProtKB/Swiss-Prot),   D6R919 (UniProtKB/Swiss-Prot),   D3DVR0 (UniProtKB/Swiss-Prot),   B4DT04 (UniProtKB/Swiss-Prot),   B2R5R6 (UniProtKB/Swiss-Prot),   A6NNC2 (UniProtKB/Swiss-Prot),   P78315 (UniProtKB/Swiss-Prot),   P78314 (UniProtKB/Swiss-Prot),   A0A384N6E5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139328   ⟸   NM_001145856
- Peptide Label: isoform b
- UniProtKB: P78314 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000425537   ⟸   ENST00000502260
RefSeq Acc Id: ENSP00000422168   ⟸   ENST00000503393
RefSeq Acc Id: ENSP00000422796   ⟸   ENST00000503219
RefSeq Acc Id: ENSP00000423275   ⟸   ENST00000504294
RefSeq Acc Id: ENSP00000409746   ⟸   ENST00000452765
RefSeq Acc Id: ENSP00000424917   ⟸   ENST00000508385
RefSeq Acc Id: ENSP00000424846   ⟸   ENST00000511747
RefSeq Acc Id: ENSP00000424105   ⟸   ENST00000512014
RefSeq Acc Id: ENSP00000426818   ⟸   ENST00000513069
RefSeq Acc Id: ENSP00000423823   ⟸   ENST00000513095
RefSeq Acc Id: ENSP00000424072   ⟸   ENST00000513020
RefSeq Acc Id: ENSP00000348685   ⟸   ENST00000356331
RefSeq Acc Id: ENSP00000403231   ⟸   ENST00000435136
RefSeq Acc Id: ENSP00000422605   ⟸   ENST00000515737
Protein Domains
PH   SH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P78314-F1-model_v2 AlphaFold P78314 1-561 view protein structure

Promoters
RGD ID:6802591
Promoter ID:HG_KWN:47716
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001145855
Position:
Human AssemblyChrPosition (strand)Source
Build 3642,782,811 - 2,783,942 (+)MPROMDB
RGD ID:6802595
Promoter ID:HG_KWN:47717
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:NM_003023,   UC003GFJ.2,   UC003GFL.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3642,789,111 - 2,789,967 (+)MPROMDB
RGD ID:6866892
Promoter ID:EPDNEW_H6611
Type:initiation region
Name:SH3BP2_1
Description:SH3 domain binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6613  EPDNEW_H6614  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,793,085 - 2,793,145EPDNEW
RGD ID:6802596
Promoter ID:HG_KWN:47718
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:UC003GFM.2
Position:
Human AssemblyChrPosition (strand)Source
Build 3642,797,016 - 2,798,837 (+)MPROMDB
RGD ID:6812605
Promoter ID:HG_ACW:57952
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SH3BP2.VAAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 3642,806,921 - 2,807,972 (+)MPROMDB
RGD ID:6866896
Promoter ID:EPDNEW_H6613
Type:initiation region
Name:SH3BP2_2
Description:SH3 domain binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6611  EPDNEW_H6614  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,812,291 - 2,812,351EPDNEW
RGD ID:6866898
Promoter ID:EPDNEW_H6614
Type:initiation region
Name:SH3BP2_3
Description:SH3 domain binding protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6611  EPDNEW_H6613  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3842,818,170 - 2,818,230EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10825 AgrOrtholog
COSMIC SH3BP2 COSMIC
Ensembl Genes ENSG00000087266 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000356331 ENTREZGENE
  ENST00000356331.9 UniProtKB/Swiss-Prot
  ENST00000435136 ENTREZGENE
  ENST00000435136.8 UniProtKB/Swiss-Prot
  ENST00000452765.7 UniProtKB/TrEMBL
  ENST00000502260.5 UniProtKB/TrEMBL
  ENST00000503219.5 UniProtKB/TrEMBL
  ENST00000503393 ENTREZGENE
  ENST00000503393.8 UniProtKB/Swiss-Prot
  ENST00000504294.5 UniProtKB/TrEMBL
  ENST00000508385.5 UniProtKB/TrEMBL
  ENST00000511747 ENTREZGENE
  ENST00000511747.6 UniProtKB/Swiss-Prot
  ENST00000512014.5 UniProtKB/TrEMBL
  ENST00000513020.5 UniProtKB/Swiss-Prot
  ENST00000513069.1 UniProtKB/TrEMBL
  ENST00000513095.5 UniProtKB/TrEMBL
  ENST00000515737.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.505.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000087266 GTEx
HGNC ID HGNC:10825 ENTREZGENE
Human Proteome Map SH3BP2 Human Proteome Map
InterPro PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3BP2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3BP2_SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6452 ENTREZGENE
OMIM 602104 OMIM
PANTHER PTHR15126 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH3 DOMAIN-BINDING PROTEIN 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PF00169 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35733 PharmGKB
PROSITE PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55550 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt 3BP2_HUMAN UniProtKB/Swiss-Prot
  A0A384N6E5 ENTREZGENE, UniProtKB/TrEMBL
  A0A499FIV3_HUMAN UniProtKB/TrEMBL
  A6NNC2 ENTREZGENE
  B2R5R6 ENTREZGENE
  B4DT04 ENTREZGENE
  D3DVR0 ENTREZGENE
  D6R919 ENTREZGENE
  D6R995_HUMAN UniProtKB/TrEMBL
  D6RAB4_HUMAN UniProtKB/TrEMBL
  D6RBL6_HUMAN UniProtKB/TrEMBL
  D6RC64_HUMAN UniProtKB/TrEMBL
  D6RER9_HUMAN UniProtKB/TrEMBL
  H0YAD9_HUMAN UniProtKB/TrEMBL
  O00500 ENTREZGENE
  O15373 ENTREZGENE
  P78314 ENTREZGENE
  P78315 ENTREZGENE
UniProt Secondary A6NNC2 UniProtKB/Swiss-Prot
  B2R5R6 UniProtKB/Swiss-Prot
  B4DT04 UniProtKB/Swiss-Prot
  D3DVR0 UniProtKB/Swiss-Prot
  D6R919 UniProtKB/Swiss-Prot
  O00500 UniProtKB/Swiss-Prot
  O15373 UniProtKB/Swiss-Prot
  P78315 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 SH3BP2  SH3 domain binding protein 2    SH3-domain binding protein 2  Symbol and/or name change 5135510 APPROVED
2011-08-16 SH3BP2  SH3-domain binding protein 2  SH3BP2  SH3-domain binding protein 2  Symbol and/or name change 5135510 APPROVED