TUBGCP5 (tubulin gamma complex component 5) - Rat Genome Database

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Gene: TUBGCP5 (tubulin gamma complex component 5) Homo sapiens
Analyze
Symbol: TUBGCP5
Name: tubulin gamma complex component 5
RGD ID: 1312280
HGNC Page HGNC:18600
Description: Enables microtubule binding activity. Involved in microtubule nucleation. Located in centrosome and cytosol. Part of gamma-tubulin ring complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: gamma-tubulin complex component 5; gamma-tubulin complex component GCP5; GCP-5; GCP5; KIAA1899; tubulin gamma complex associated protein 5; tubulin, gamma complex associated protein 5
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381522,983,025 - 23,039,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1522,983,192 - 23,039,572 (-)EnsemblGRCh38hg38GRCh38
GRCh371522,833,499 - 22,890,043 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361520,384,836 - 20,425,332 (+)NCBINCBI36Build 36hg18NCBI36
Build 341520,384,942 - 20,425,331NCBI
Celera151,506,523 - 1,547,034 (-)NCBICelera
Cytogenetic Map15q11.2NCBI
HuRef151,146,027 - 1,186,592 (+)NCBIHuRef
CHM1_11522,782,441 - 22,822,933 (+)NCBICHM1_1
T2T-CHM13v2.01520,654,893 - 20,711,463 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8838651   PMID:11572484   PMID:11694571   PMID:11956313   PMID:12221128   PMID:12477932   PMID:14508708   PMID:14702039   PMID:15342556   PMID:15489334   PMID:16196087   PMID:16982806  
PMID:18316369   PMID:20360068   PMID:21135143   PMID:21399614   PMID:21873635   PMID:21890473   PMID:21906983   PMID:21963094   PMID:23443559   PMID:24453475   PMID:25798074   PMID:25921289  
PMID:26186194   PMID:26496610   PMID:28514442   PMID:28561026   PMID:29507755   PMID:29568061   PMID:30033366   PMID:31091453   PMID:31753913   PMID:32296183   PMID:32694731   PMID:33726789  
PMID:33961781   PMID:34373451   PMID:35271311   PMID:35914814   PMID:36538041  


Genomics

Comparative Map Data
TUBGCP5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381522,983,025 - 23,039,569 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1522,983,192 - 23,039,572 (-)EnsemblGRCh38hg38GRCh38
GRCh371522,833,499 - 22,890,043 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361520,384,836 - 20,425,332 (+)NCBINCBI36Build 36hg18NCBI36
Build 341520,384,942 - 20,425,331NCBI
Celera151,506,523 - 1,547,034 (-)NCBICelera
Cytogenetic Map15q11.2NCBI
HuRef151,146,027 - 1,186,592 (+)NCBIHuRef
CHM1_11522,782,441 - 22,822,933 (+)NCBICHM1_1
T2T-CHM13v2.01520,654,893 - 20,711,463 (-)NCBIT2T-CHM13v2.0
Tubgcp5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39755,443,873 - 55,481,207 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl755,443,902 - 55,481,425 (+)EnsemblGRCm39 Ensembl
GRCm38755,794,125 - 55,831,459 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl755,794,154 - 55,831,677 (+)EnsemblGRCm38mm10GRCm38
MGSCv37763,049,518 - 63,086,817 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36755,662,167 - 55,699,466 (+)NCBIMGSCv36mm8
Celera753,147,649 - 53,185,108 (+)NCBICelera
Cytogenetic Map7B5NCBI
cM Map733.42NCBI
Tubgcp5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81115,772,294 - 115,807,947 (+)NCBIGRCr8
mRatBN7.21106,636,526 - 106,672,175 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1106,636,526 - 106,672,175 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1112,033,249 - 112,068,931 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01120,505,138 - 120,540,800 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01113,754,053 - 113,789,728 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01114,186,853 - 114,222,516 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1114,186,853 - 114,222,516 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01115,192,961 - 115,228,228 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41107,171,399 - 107,206,919 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11107,249,811 - 107,285,247 (+)NCBI
Celera1100,846,430 - 100,882,021 (+)NCBICelera
Cytogenetic Map1q22NCBI
TUBGCP5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21612,327,087 - 12,374,648 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11516,060,700 - 16,101,273 (-)NCBINHGRI_mPanPan1
PanPan1.11520,403,757 - 20,444,851 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1520,403,757 - 20,444,851 (+)Ensemblpanpan1.1panPan2
TUBGCP5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1332,243,031 - 32,339,037 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl332,242,961 - 32,338,957 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha334,337,482 - 34,434,089 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0331,991,816 - 32,087,727 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl331,991,859 - 32,050,029 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1331,524,770 - 31,621,428 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0331,774,056 - 31,870,726 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0331,884,940 - 31,981,403 (+)NCBIUU_Cfam_GSD_1.0
Tubgcp5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640120,333,117 - 120,367,909 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647138,181,252 - 38,216,306 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647138,180,670 - 38,215,972 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TUBGCP5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1531,995,741 - 32,056,755 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11531,995,727 - 32,042,297 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TUBGCP5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12653,497,298 - 53,541,339 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2653,506,340 - 53,541,319 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605436,221,921 - 36,265,380 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tubgcp5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248962,816,262 - 2,855,161 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248962,818,476 - 2,855,096 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TUBGCP5
83 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 15q11.2(chr15:22765628-23085096) copy number loss Autism [RCV001291952] Chr15:22765628..23085096 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22786765-23066575)x1 copy number loss See cases [RCV000133898] Chr15:22786765..23066575 [GRCh38]
Chr15:22698522..23086303 [GRCh37]
Chr15:20249886..20637744 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3 copy number gain See cases [RCV000050332] Chr15:22655582..23174546 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000050334] Chr15:22655582..23066575 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000050342] Chr15:22655582..23066575 [GRCh38]
Chr15:22765628..23217514 [GRCh37]
Chr15:20316992..20768955 [NCBI36]
Chr15:15q11.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:23319714-28785371)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|Global developmental delay [RCV000050782]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050781]|See cases [RCV000050782] Chr15:23319714..28785371 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000050783] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22572809-23174546)x1 copy number loss See cases [RCV000050507] Chr15:22572809..23174546 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 benign|uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22726969-23107440)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050743]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050743]|See cases [RCV000050743] Chr15:22726969..23107440 [GRCh38]
Chr15:22765628..23146132 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 copy number loss See cases [RCV000051236] Chr15:22572809..23066575 [GRCh38]
Chr15:22669052..23300287 [GRCh37]
Chr15:20220416..20851728 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000051238] Chr15:22655582..23066575 [GRCh38]
Chr15:22756505..23217514 [GRCh37]
Chr15:20307869..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22775968-23066575)x1 copy number loss See cases [RCV000051245] Chr15:22775968..23066575 [GRCh38]
Chr15:22765628..23097100 [GRCh37]
Chr15:20316992..20648541 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22358243-23066575)x1 copy number loss See cases [RCV000051246] Chr15:22358243..23066575 [GRCh38]
Chr15:22765628..23739406 [GRCh37]
Chr15:20316992..21290499 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22632213-23066575)x1 copy number loss See cases [RCV000051247] Chr15:22632213..23066575 [GRCh38]
Chr15:22779922..23240883 [GRCh37]
Chr15:20331286..20792324 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22750921-23066575)x1 copy number loss See cases [RCV000051248] Chr15:22750921..23066575 [GRCh38]
Chr15:22779922..23122189 [GRCh37]
Chr15:20331286..20673630 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22559691-23066575)x1 copy number loss See cases [RCV000051249] Chr15:22559691..23066575 [GRCh38]
Chr15:22779922..23313405 [GRCh37]
Chr15:20331286..20864846 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22484473-23066575)x1 copy number loss See cases [RCV000051250] Chr15:22484473..23066575 [GRCh38]
Chr15:22779922..23388623 [GRCh37]
Chr15:20331286..20940064 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572658-23066575)x4 copy number gain See cases [RCV000051311] Chr15:22572658..23066575 [GRCh38]
Chr15:22698322..23300438 [GRCh37]
Chr15:20249686..20851879 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22787972-23107440)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051330]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051330]|See cases [RCV000051330] Chr15:22787972..23107440 [GRCh38]
Chr15:22765628..23085096 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.1-13.2(chr15:20002460-30349193)x3 copy number gain See cases [RCV000052339] Chr15:20002460..30349193 [GRCh38]
Chr15:20207713..30641396 [GRCh37]
Chr15:18467727..28428688 [NCBI36]
Chr15:15q11.1-13.2		 pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:20002460-32121422)x3 copy number gain See cases [RCV000052340] Chr15:20002460..32121422 [GRCh38]
Chr15:20207713..32413623 [GRCh37]
Chr15:18467727..30200915 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22030646-28694952)x1 copy number loss See cases [RCV000052345] Chr15:22030646..28694952 [GRCh38]
Chr15:22318597..28940098 [GRCh37]
Chr15:19819961..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.2(chr15:22144677-30349193)x1 copy number loss See cases [RCV000052348] Chr15:22144677..30349193 [GRCh38]
Chr15:22432628..30641396 [GRCh37]
Chr15:19933992..28428688 [NCBI36]
Chr15:15q11.2-13.2		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28918517)x3 copy number gain See cases [RCV000052300] Chr15:19879749..28918517 [GRCh38]
Chr15:20085002..29210720 [GRCh37]
Chr15:18345016..26998012 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879749-28702163)x4 copy number gain See cases [RCV000052301] Chr15:19879749..28702163 [GRCh38]
Chr15:20085002..28947309 [GRCh37]
Chr15:18345016..26746350 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19879750-27865713)x3 copy number gain See cases [RCV000052305] Chr15:19879750..27865713 [GRCh38]
Chr15:20085003..28178425 [GRCh37]
Chr15:18345017..25852020 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:19905469-28163751)x3 copy number gain See cases [RCV000052308] Chr15:19905469..28163751 [GRCh38]
Chr15:20110722..28408897 [GRCh37]
Chr15:18370736..26082492 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.1(chr15:20046515-28385894)x3 copy number gain See cases [RCV000053207] Chr15:20046515..28385894 [GRCh38]
Chr15:20251768..28631040 [GRCh37]
Chr15:18511782..26304635 [NCBI36]
Chr15:15q11.1-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053210]|See cases [RCV000053210] Chr15:22358243..28481444 [GRCh38]
Chr15:22698322..28940239 [GRCh37]
Chr15:20249686..26739280 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Renal adysplasia [RCV000053224]|See cases [RCV000053224] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30653936 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053229] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053230]|See cases [RCV000053230] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..30366124 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000053231] Chr15:22358243..28481444 [GRCh38]
Chr15:22765428..28940239 [GRCh37]
Chr15:20316792..26739280 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
NM_001102610.1(TUBGCP5):c.1376C>T (p.Ser459Phe) single nucleotide variant Malignant melanoma [RCV000070694] Chr15:23019330 [GRCh38]
Chr15:22853738 [GRCh37]
Chr15:20405179 [NCBI36]
Chr15:15q11.2		 not provided
NM_001102610.1(TUBGCP5):c.1440C>T (p.Ile480=) single nucleotide variant Malignant melanoma [RCV000062838] Chr15:23019266 [GRCh38]
Chr15:22853802 [GRCh37]
Chr15:20405243 [NCBI36]
Chr15:15q11.2		 not provided
GRCh37/hg19 15q11.2(chr15:22753733-23226254)x3 copy number gain See cases [RCV000663387] Chr15:22753733..23226254 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22753733-23140114)x3 copy number gain See cases [RCV000663383] Chr15:22753733..23140114 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:20739497-28566579)x1 copy number loss not provided [RCV002292908] Chr15:20739497..28566579 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
Single allele deletion Intellectual disability [RCV001293371] Chr15:20612840..23272733 [GRCh37]
Chr15:15q11.1-11.2		 pathogenic
NC_000015.10:g.22698177_(23120963_23380983)del deletion Chromosome 15q11.2 deletion syndrome [RCV003221323] Chr15:22698177..23120963 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22833525-23412276) copy number loss Chromosome 15q11.2 deletion syndrome [RCV003236712] Chr15:22833525..23412276 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000050782] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000050781] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3 copy number gain See cases [RCV000050743] Chr15:22726969..23066575 [GRCh38]
Chr15:22765628..23146132 [GRCh37]
Chr15:20316992..20697573 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22822019-23085219)x3 copy number gain See cases [RCV000515552] Chr15:22822019..23085219 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22787972-23066575)x3 copy number gain See cases [RCV000051330] Chr15:22787972..23066575 [GRCh38]
Chr15:22765628..23085096 [GRCh37]
Chr15:20316992..20636537 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 copy number loss See cases [RCV000133674] Chr15:22572809..23066575 [GRCh38]
Chr15:22765628..23300287 [GRCh37]
Chr15:20316992..20851728 [NCBI36]
Chr15:15q11.2		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655582-23107440)x3 copy number gain See cases [RCV000133722] Chr15:22655582..23107440 [GRCh38]
Chr15:22765628..23217514 [GRCh37]
Chr15:20316992..20768955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22612582-23066575)x1 copy number loss See cases [RCV000133685] Chr15:22612582..23066575 [GRCh38]
Chr15:22698522..23260514 [GRCh37]
Chr15:20249886..20811955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22612582-23066575)x1 copy number loss See cases [RCV000133774] Chr15:22612582..23066575 [GRCh38]
Chr15:22765628..23260514 [GRCh37]
Chr15:20316992..20811955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22572858-23012211)x3 copy number gain See cases [RCV000134443] Chr15:22572858..23012211 [GRCh38]
Chr15:22860857..23300238 [GRCh37]
Chr15:20412298..20851679 [NCBI36]
Chr15:15q11.2		 likely benign
GRCh38/hg38 15q11.2(chr15:22572858-23012211)x1 copy number loss See cases [RCV000134444] Chr15:22572858..23012211 [GRCh38]
Chr15:22860857..23300238 [GRCh37]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655641-23012211)x1 copy number loss See cases [RCV000134448] Chr15:22655641..23012211 [GRCh38]
Chr15:22860857..23217455 [GRCh37]
Chr15:20412298..20768896 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655583-23066575)x3 copy number gain See cases [RCV000134105] Chr15:22655583..23066575 [GRCh38]
Chr15:22765637..23217513 [GRCh37]
Chr15:20317001..20768954 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22655583-23107431)x1 copy number loss See cases [RCV000134106] Chr15:22655583..23107431 [GRCh38]
Chr15:22765637..23217513 [GRCh37]
Chr15:20317001..20768954 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22469457-23066575)x1 copy number loss See cases [RCV000134076] Chr15:22469457..23066575 [GRCh38]
Chr15:22765637..23403639 [GRCh37]
Chr15:20317001..20955080 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134082] Chr15:22358243..28481444 [GRCh38]
Chr15:22652047..28705151 [GRCh37]
Chr15:20203411..26524679 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22786765-23066575)x1 copy number loss See cases [RCV000133960] Chr15:22786765..23066575 [GRCh38]
Chr15:22765628..23086303 [GRCh37]
Chr15:20316992..20637744 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22786765-23048726)x1 copy number loss See cases [RCV000133983] Chr15:22786765..23048726 [GRCh38]
Chr15:22824342..23086303 [GRCh37]
Chr15:20375706..20637744 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22572783-23066575)x1 copy number loss See cases [RCV000134798] Chr15:22572783..23066575 [GRCh38]
Chr15:22765637..23300313 [GRCh37]
Chr15:20317001..20851754 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572783-23107431)x3 copy number gain See cases [RCV000134799] Chr15:22572783..23107431 [GRCh38]
Chr15:22765637..23300313 [GRCh37]
Chr15:20317001..20851754 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000134755] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000134756] Chr15:22358243..28481444 [GRCh38]
Chr15:22765637..29085888 [GRCh37]
Chr15:20317001..26884929 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000135744] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000135583] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..28940098 [GRCh37]
Chr15:20249886..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|uncertain significance
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x1 copy number loss See cases [RCV000135507] Chr15:22726969..23066575 [GRCh38]
Chr15:22765628..23146132 [GRCh37]
Chr15:20316992..20697573 [NCBI36]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22787972-23107440)x1 copy number loss See cases [RCV000135522] Chr15:22787972..23107440 [GRCh38]
Chr15:22765628..23085096 [GRCh37]
Chr15:20316992..20636537 [NCBI36]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x3 copy number gain See cases [RCV000135477] Chr15:22572809..23066575 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22726999-23057280)x1 copy number loss See cases [RCV000136105] Chr15:22726999..23057280 [GRCh38]
Chr15:22815788..23146102 [GRCh37]
Chr15:20367152..20697543 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22358243-23006180)x3 copy number gain See cases [RCV000136131] Chr15:22358243..23006180 [GRCh38]
Chr15:22866888..23699760 [GRCh37]
Chr15:20418329..21250853 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22726969-23066575)x3 copy number gain See cases [RCV000136150] Chr15:22726969..23066575 [GRCh38]
Chr15:22698522..23146132 [GRCh37]
Chr15:20249886..20697573 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22787833-23066575)x3 copy number gain See cases [RCV000135982] Chr15:22787833..23066575 [GRCh38]
Chr15:22765637..23085235 [GRCh37]
Chr15:20317001..20636676 [NCBI36]
Chr15:15q11.2		 benign|likely benign|conflicting data from submitters
GRCh38/hg38 15q11.1-13.2(chr15:20480943-30217181)x3 copy number gain See cases [RCV000136964] Chr15:20480943..30217181 [GRCh38]
Chr15:20686196..30509384 [GRCh37]
Chr15:18946210..28296676 [NCBI36]
Chr15:15q11.1-13.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22787972-23066575)x1 copy number loss See cases [RCV000136747] Chr15:22787972..23066575 [GRCh38]
Chr15:22784523..23085096 [GRCh37]
Chr15:20335887..20636537 [NCBI36]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22655582-23057491)x3 copy number gain See cases [RCV000137201] Chr15:22655582..23057491 [GRCh38]
Chr15:22815577..23217514 [GRCh37]
Chr15:20366941..20768955 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000138132] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000138133] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29006852 [GRCh37]
Chr15:20316992..26805893 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000137945] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic|likely benign
GRCh38/hg38 15q11.2(chr15:22623415-23066575)x1 copy number loss See cases [RCV000138439] Chr15:22623415..23066575 [GRCh38]
Chr15:22765628..23249681 [GRCh37]
Chr15:20316992..20801122 [NCBI36]
Chr15:15q11.2		 conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22782794-23066575)x1 copy number loss See cases [RCV000138344] Chr15:22782794..23066575 [GRCh38]
Chr15:22765628..23090274 [GRCh37]
Chr15:20316992..20641715 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22781888-23066575)x1 copy number loss See cases [RCV000139124] Chr15:22781888..23066575 [GRCh38]
Chr15:22765628..23091180 [GRCh37]
Chr15:20316992..20642621 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22658112-23102647)x1 copy number loss See cases [RCV000139932] Chr15:22658112..23102647 [GRCh38]
Chr15:22770421..23214984 [GRCh37]
Chr15:20321785..20766425 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000140240] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28940098 [GRCh37]
Chr15:20316992..26739139 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000141251] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28976193 [GRCh37]
Chr15:20316992..26775234 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000140871] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29096442 [GRCh37]
Chr15:20316992..26895483 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:21581401-28332641)x3 copy number gain See cases [RCV000140619] Chr15:21581401..28332641 [GRCh38]
Chr15:22304596..28577787 [GRCh37]
Chr15:19805960..26251382 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.1-13.3(chr15:19840581-32621939)x4 copy number gain See cases [RCV000140623] Chr15:19840581..32621939 [GRCh38]
Chr15:20045834..32914140 [GRCh37]
Chr15:18305848..30701432 [NCBI36]
Chr15:15q11.1-13.3		 pathogenic
GRCh38/hg38 15q11.2(chr15:22790626-23102647)x1 copy number loss See cases [RCV000141818] Chr15:22790626..23102647 [GRCh38]
Chr15:22770421..23082442 [GRCh37]
Chr15:20321785..20633883 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22796648-23066575)x1 copy number loss See cases [RCV000141501] Chr15:22796648..23066575 [GRCh38]
Chr15:22765628..23076420 [GRCh37]
Chr15:20316992..20627861 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22790247-23066575)x1 copy number loss See cases [RCV000141457] Chr15:22790247..23066575 [GRCh38]
Chr15:22765628..23082821 [GRCh37]
Chr15:20316992..20634262 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22595661-23102647)x1 copy number loss See cases [RCV000142160] Chr15:22595661..23102647 [GRCh38]
Chr15:22770421..23277435 [GRCh37]
Chr15:20321785..20828876 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22590191-23102647)x1 copy number loss See cases [RCV000142110] Chr15:22590191..23102647 [GRCh38]
Chr15:22770421..23282905 [GRCh37]
Chr15:20321785..20834346 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22582277-23102647)x1 copy number loss See cases [RCV000142122] Chr15:22582277..23102647 [GRCh38]
Chr15:22770421..23290819 [GRCh37]
Chr15:20321785..20842260 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22612562-23066575)x1 copy number loss See cases [RCV000143040] Chr15:22612562..23066575 [GRCh38]
Chr15:22765637..23260534 [GRCh37]
Chr15:20317001..20811975 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22726999-23066575)x3 copy number gain See cases [RCV000143066] Chr15:22726999..23066575 [GRCh38]
Chr15:22765637..23146102 [GRCh37]
Chr15:20317001..20697543 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2(chr15:22693148-23066575)x1 copy number loss See cases [RCV000142918] Chr15:22693148..23066575 [GRCh38]
Chr15:22765628..23179948 [GRCh37]
Chr15:20316992..20731389 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22787972-23088545)x3 copy number gain See cases [RCV000142684] Chr15:22787972..23088545 [GRCh38]
Chr15:22784523..23085096 [GRCh37]
Chr15:20335887..20636537 [NCBI36]
Chr15:15q11.2		 benign
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000142795] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..28912057 [GRCh37]
Chr15:20316992..26711098 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000142713] Chr15:22358243..28481444 [GRCh38]
Chr15:22765628..29085896 [GRCh37]
Chr15:20316992..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22590297-23102647)x1 copy number loss See cases [RCV000143282] Chr15:22590297..23102647 [GRCh38]
Chr15:22770421..23282799 [GRCh37]
Chr15:20321785..20834240 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22591732-23102647)x1 copy number loss See cases [RCV000143718] Chr15:22591732..23102647 [GRCh38]
Chr15:22770421..23281364 [GRCh37]
Chr15:20321785..20832805 [NCBI36]
Chr15:15q11.2		 likely benign|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22790740-23102647)x1 copy number loss See cases [RCV000143689] Chr15:22790740..23102647 [GRCh38]
Chr15:22770421..23082328 [GRCh37]
Chr15:20321785..20633769 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x3 copy number gain See cases [RCV000148084] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29085896 [GRCh37]
Chr15:20249886..26884937 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x4 copy number gain See cases [RCV000148060] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22358243-28481444)x1 copy number loss See cases [RCV000148061] Chr15:22358243..28481444 [GRCh38]
Chr15:22698522..29030517 [GRCh37]
Chr15:20249886..26829558 [NCBI36]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2(chr15:22581937-23102647)x1 copy number loss See cases [RCV000143552] Chr15:22581937..23102647 [GRCh38]
Chr15:22770421..23291159 [GRCh37]
Chr15:20321785..20842600 [NCBI36]
Chr15:15q11.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 15q11.2(chr15:22358243-23102647)x1 copy number loss See cases [RCV000143598] Chr15:22358243..23102647 [GRCh38]
Chr15:22770421..23682708 [GRCh37]
Chr15:20321785..21234149 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000148277] Chr15:22655582..23066575 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23174546)x3 copy number gain See cases [RCV000148278] Chr15:22655582..23174546 [GRCh38]
Chr15:22698522..23217514 [GRCh37]
Chr15:20249886..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 copy number loss See cases [RCV000148283] Chr15:22655582..23066575 [GRCh38]
Chr15:22765628..23217514 [GRCh37]
Chr15:20316992..20768955 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22572809-23066575)x1 copy number loss See cases [RCV000148236] Chr15:22572809..23066575 [GRCh38]
Chr15:22698522..23300287 [GRCh37]
Chr15:20249886..20851728 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22698522-23198655)x1 copy number loss See cases [RCV000240240] Chr15:22698522..23198655 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-12(chr15:20848460-27662530)x3 copy number gain See cases [RCV000240207] Chr15:20848460..27662530 [GRCh37]
Chr15:15q11.2-12		 pathogenic
GRCh37/hg19 15q11.2(chr15:22698522-23059487)x1 copy number loss See cases [RCV000240208] Chr15:22698522..23059487 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917857)x4 copy number gain See cases [RCV000240220] Chr15:20190548..32917857 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22509195-23085096)x3 copy number gain See cases [RCV000051310] Chr15:22509195..23085096 [GRCh37]
Chr15:20010559..20636537 [NCBI36]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22815306-23217514)x1 copy number loss See cases [RCV000239821] Chr15:22815306..23217514 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22815306-23086303)x1 copy number loss See cases [RCV000240230] Chr15:22815306..23086303 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22750305-23702085)x1 copy number loss See cases [RCV000207453] Chr15:22750305..23702085 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele deletion not provided [RCV000768456] Chr15:22751194..23251194 [GRCh37]
Chr15:15q11.2		 likely pathogenic
NC_000015.9:g.(?_22410242)_(23222284_?)del deletion Autism spectrum disorder [RCV000208735] Chr15:22410242..23222284 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770994-23226254)x3 copy number gain See cases [RCV000515587] Chr15:22770994..23226254 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225383] Chr15:22528723..23300172 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225455] Chr15:20044342..28924405 [GRCh37]
Chr15:15q11.1-13.1		 pathogenic
Single allele deletion Autism spectrum disorder [RCV000225465] Chr15:22750305..23228712 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225468] Chr15:22646349..23140114 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225486] Chr15:22528723..23226254 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele deletion Autism spectrum disorder [RCV000225537] Chr15:22750305..23114440 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225606] Chr15:22750305..23228712 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication Autism spectrum disorder [RCV000225663] Chr15:20306549..26208861 [GRCh37]
Chr15:15q11.1-12		 pathogenic
Single allele duplication Autism spectrum disorder [RCV000225674] Chr15:22750305..23175280 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22815306-23198655)x1 copy number loss See cases [RCV000239931] Chr15:22815306..23198655 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406709)x3 copy number gain See cases [RCV000239962] Chr15:20733395..28406709 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x3 copy number gain See cases [RCV000511328] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1		 likely pathogenic
GRCh37/hg19 15q11.2(chr15:22815306-23191062)x1 copy number loss See cases [RCV000239885] Chr15:22815306..23191062 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22815306-23059487)x1 copy number loss See cases [RCV000239946] Chr15:22815306..23059487 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22427966-23226254)x1 copy number loss See cases [RCV000239433] Chr15:22427966..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406709)x1 copy number loss See cases [RCV000240259] Chr15:22815306..28406709 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32386089)x4 copy number gain See cases [RCV000240538] Chr15:20190548..32386089 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:20848460-23191062)x1 copy number loss See cases [RCV000240598] Chr15:20848460..23191062 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406709)x1 copy number loss See cases [RCV000240502] Chr15:22698522..28406709 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23282799) copy number loss Chromosome 15q11.2 deletion syndrome [RCV003319573] Chr15:22770421..23282799 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23195725) copy number loss Chromosome 15q11.2 deletion syndrome [RCV003319588] Chr15:22770421..23195725 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22646799-23301267)x1 copy number loss not provided [RCV001270653] Chr15:22646799..23301267 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-25648680)x1 copy number loss Hypotonia [RCV002284313] Chr15:22770421..25648680 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23226254)x1 copy number loss See cases [RCV000599075] Chr15:22750305..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28644578)x3 copy number gain See cases [RCV000449082] Chr15:22770421..28644578 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x3 copy number gain See cases [RCV000449451] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23283811)x1 copy number loss See cases [RCV000449102] Chr15:22770421..23283811 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20071673-30737344)x4 copy number gain See cases [RCV000454142] Chr15:20071673..30737344 [GRCh37]
Chr15:15q11.1-13.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:20733395-23487423)x3 copy number gain See cases [RCV000449296] Chr15:20733395..23487423 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22698522-23217455)x1 copy number loss See cases [RCV000449478] Chr15:22698522..23217455 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x1 copy number loss See cases [RCV000449486] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28928730)x1 copy number loss See cases [RCV000446327] Chr15:22770421..28928730 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28527747)x3 copy number gain See cases [RCV000447681] Chr15:22770421..28527747 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545355)x1 copy number loss See cases [RCV000447305] Chr15:22770421..28545355 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22818404-23620154)x3 copy number gain See cases [RCV000446855] Chr15:22818404..23620154 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28958779)x4 copy number gain See cases [RCV000447111] Chr15:22770421..28958779 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22815306-23207791)x1 copy number loss See cases [RCV000446908] Chr15:22815306..23207791 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23290819)x1 copy number loss See cases [RCV000446393] Chr15:22770421..23290819 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29021034)x1 copy number loss See cases [RCV000447354] Chr15:22770421..29021034 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28828168)x1 copy number loss See cases [RCV000446646] Chr15:22770421..28828168 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x4 copy number gain See cases [RCV000447598] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23282976)x1 copy number loss See cases [RCV000447027] Chr15:22770421..23282976 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x3 copy number gain See cases [RCV000446464] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss See cases [RCV000446703] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20190548-28406650) copy number gain See cases [RCV000447173] Chr15:20190548..28406650 [GRCh37]
Chr15:15q11.1-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28704050)x1 copy number loss See cases [RCV000447451] Chr15:22770421..28704050 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22815306-23333796)x1 copy number loss See cases [RCV000447452] Chr15:22815306..23333796 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23213566)x1 copy number loss See cases [RCV000446313] Chr15:22770421..23213566 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1 copy number loss See cases [RCV000445977] Chr15:22770421..23282799 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-31760986)x1 copy number loss See cases [RCV000445857] Chr15:22770421..31760986 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23206905)x1 copy number loss See cases [RCV000445982] Chr15:22770421..23206905 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x3 copy number gain See cases [RCV000445780] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:20733395-28406650)x3 copy number gain See cases [RCV000445711] Chr15:20733395..28406650 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073669)x4 copy number gain See cases [RCV000448114] Chr15:22770421..31073669 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22815306-23198596)x1 copy number loss See cases [RCV000447866] Chr15:22815306..23198596 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23191651)x1 copy number loss See cases [RCV000448021] Chr15:22770421..23191651 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23291159)x1 copy number loss See cases [RCV000448139] Chr15:22770421..23291159 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23191761)x1 copy number loss See cases [RCV000447882] Chr15:22770421..23191761 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22815306-23217455)x1 copy number loss See cases [RCV000448713] Chr15:22815306..23217455 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23082328)x1 copy number loss See cases [RCV000448911] Chr15:22770421..23082328 [GRCh37]
Chr15:15q11.2		 pathogenic|conflicting data from submitters
GRCh37/hg19 15q11.2(chr15:22665220-23147419) copy number loss Abnormal esophagus morphology [RCV000416676] Chr15:22665220..23147419 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534458)x1 copy number loss See cases [RCV000448156] Chr15:22770421..28534458 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x3 copy number gain See cases [RCV000448542] Chr15:22770421..23282799 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22815306-28406650)x1 copy number loss See cases [RCV000448168] Chr15:22815306..28406650 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770421-33707835)x3 copy number gain See cases [RCV000447775] Chr15:22770421..33707835 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28709715)x1 copy number loss See cases [RCV000448196] Chr15:22770421..28709715 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28915864)x1 copy number loss See cases [RCV000447934] Chr15:22770421..28915864 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x4 copy number gain See cases [RCV000448060] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.1-13.3(chr15:20190548-32917801)x4 copy number gain See cases [RCV000448210] Chr15:20190548..32917801 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23282905)x1 copy number loss See cases [RCV000448574] Chr15:22770421..23282905 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23195725)x1 copy number loss See cases [RCV000448859] Chr15:22770421..23195725 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22698522-28406650)x1 copy number loss See cases [RCV000448076] Chr15:22698522..28406650 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28419123)x1 copy number loss See cases [RCV000448602] Chr15:22770421..28419123 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain See cases [RCV000448096] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000448389] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22815306-23191003)x1 copy number loss See cases [RCV000448464] Chr15:22815306..23191003 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28526410)x3 copy number gain See cases [RCV000510367] Chr15:22770421..28526410 [GRCh37]
Chr15:15q11.2-13.1		 likely pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31122895)x4 copy number gain See cases [RCV000510386] Chr15:22770421..31122895 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x4 copy number gain See cases [RCV000510251] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28415107)x1 copy number loss See cases [RCV000510397] Chr15:22770421..28415107 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15p13-q11.2(chr15:2770421-23082442)x1 copy number loss See cases [RCV000510203] Chr15:2770421..23082442 [GRCh37]
Chr15:15p13-q11.2		 likely benign
GRCh37/hg19 15q11.2(chr15:22770421-23209654)x1 copy number loss not provided [RCV000509289] Chr15:22770421..23209654 [GRCh37]
Chr15:15q11.2		 not provided
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29214721)x3 copy number gain See cases [RCV000510224] Chr15:22770421..29214721 [GRCh37]
Chr15:15q11.2-13.1		 likely pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23214755)x1 copy number loss See cases [RCV000510418] Chr15:22770421..23214755 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1 copy number loss See cases [RCV000510693] Chr15:22770421..29062203 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23283811)x1 copy number loss See cases [RCV000510306] Chr15:22770421..23283811 [GRCh37]
Chr15:15q11.2		 conflicting data from submitters
GRCh37/hg19 15q11.2(chr15:22770421-23276833)x1 copy number loss See cases [RCV000510586] Chr15:22770421..23276833 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2(chr15:22770421-23195725)x1 copy number loss See cases [RCV000511457] Chr15:22770421..23195725 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28660038)x1 copy number loss See cases [RCV000511670] Chr15:22770421..28660038 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23288350)x1 copy number loss See cases [RCV000511591] Chr15:22770421..23288350 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23277436)x1 copy number loss See cases [RCV000511603] Chr15:22770421..23277436 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2(chr15:22770421-23214339)x1 copy number loss See cases [RCV000511201] Chr15:22770421..23214339 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30369944)x4 copy number gain See cases [RCV000510901] Chr15:22770421..30369944 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561671)x1 copy number loss See cases [RCV000511178] Chr15:22770421..28561671 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22503621-23091180) copy number loss Global developmental delay [RCV000626502] Chr15:22503621..23091180 [GRCh37]
Chr15:15q11.2		 pathogenic
NM_052903.6(TUBGCP5):c.2792A>C (p.Tyr931Ser) single nucleotide variant not specified [RCV004331885] Chr15:23004148 [GRCh38]
Chr15:22868920 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22750305-23164315)x1 copy number loss See cases [RCV000515588] Chr15:22750305..23164315 [GRCh37]
Chr15:15q11.2		 pathogenic
NM_052903.6(TUBGCP5):c.1867G>A (p.Glu623Lys) single nucleotide variant not specified [RCV004284193] Chr15:23011221 [GRCh38]
Chr15:22861847 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.2180T>G (p.Phe727Cys) single nucleotide variant Microcephaly [RCV000627063] Chr15:23008846 [GRCh38]
Chr15:22864222 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23676512)x1 copy number loss See cases [RCV000512250] Chr15:22770421..23676512 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28561670)x4 copy number gain See cases [RCV000512182] Chr15:22770421..28561670 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22765628-23300287) copy number loss Obesity [RCV000626503] Chr15:22765628..23300287 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29009042)x3 copy number gain See cases [RCV000512432] Chr15:22770421..29009042 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23226254)x3 copy number gain See cases [RCV000790577] Chr15:22750305..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23209654)x3 copy number gain not provided [RCV000683627] Chr15:22770421..23209654 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23288350)x3 copy number gain not provided [RCV000683628] Chr15:22770421..23288350 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23291158)x4 copy number gain not provided [RCV000683629] Chr15:22770421..23291158 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28376934)x4 copy number gain not provided [RCV000683630] Chr15:22770421..28376934 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28534245)x3 copy number gain not provided [RCV000683631] Chr15:22770421..28534245 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29069001)x1 copy number loss not provided [RCV000683634] Chr15:22770421..29069001 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32439524)x4 copy number gain not provided [RCV000683638] Chr15:22770421..32439524 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-33098520)x3,4 copy number gain not provided [RCV000683639] Chr15:22770421..33098520 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28545601)x4 copy number gain not provided [RCV000683632] Chr15:22770421..28545601 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-31073668)x3,4 copy number gain not provided [RCV000683636] Chr15:22770421..31073668 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23082328)x3 copy number gain not provided [RCV000683626] Chr15:22770421..23082328 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28823722)x1 copy number loss not provided [RCV000683633] Chr15:22770421..28823722 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32421780)x2,3 copy number gain not provided [RCV000683637] Chr15:22770421..32421780 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398)x1 copy number loss not provided [RCV000683635] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
NC_000015.10:g.(?_22786657)_(23032029_?)del deletion Hereditary spastic paraplegia 6 [RCV000707782]|not provided [RCV001861923] Chr15:22786657..23032029 [GRCh38]
Chr15:22841039..23086411 [GRCh37]
Chr15:15q11.2		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1 copy number loss See cases [RCV001564035] Chr15:22770421..23282799 [GRCh37]
Chr15:15q11.2		 likely pathogenic
GRCh37/hg19 15q11.2(chr15:21903815-23226254)x3 copy number gain not provided [RCV000738645] Chr15:21903815..23226254 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:21903815-23226254)x1 copy number loss not provided [RCV000738646] Chr15:21903815..23226254 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22652330-29050198)x1 copy number loss not provided [RCV000738652] Chr15:22652330..29050198 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23109890)x1 copy number loss not provided [RCV000738653] Chr15:22750305..23109890 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23112683)x1 copy number loss not provided [RCV000738654] Chr15:22750305..23112683 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23140114)x3 copy number gain not provided [RCV000738655] Chr15:22750305..23140114 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23226254)x3 copy number gain not provided [RCV000738656] Chr15:22750305..23226254 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23272733)x3 copy number gain not provided [RCV000738657] Chr15:22750305..23272733 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23304851)x1 copy number loss not provided [RCV000738658] Chr15:22750305..23304851 [GRCh37]
Chr15:15q11.2		 benign
Single allele duplication Autism [RCV000754147] Chr15:22420897..32130343 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
NC_000015.10:g.(?_22444190)_(23226874_?)del deletion Autism [RCV000754148] Chr15:22444190..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22570470)_(23226874_?)del deletion Autism [RCV000754149] Chr15:22570470..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22673143)_(23226874_?)del deletion Autism [RCV000754150] Chr15:22673143..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22751662)_(23126124_?)del deletion Autism [RCV000754153] Chr15:22751662..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22770232)_(23126124_?)del deletion Autism [RCV000754154] Chr15:22770232..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-13.1(chr15:20102541-28535051)x4 copy number gain not provided [RCV000754760] Chr15:20102541..28535051 [GRCh37]
Chr15:15q11.1-13.1		 pathogenic
NC_000015.10:g.(?_22673675)_(23126124_?)del deletion Schizophrenia [RCV000754151] Chr15:22673675..23126124 [GRCh38]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.(?_22681827)_(23226874_?)del deletion Schizophrenia [RCV000754152] Chr15:22681827..23226874 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-11.2(chr15:20016811-23567465)x3 copy number gain not provided [RCV000751154] Chr15:20016811..23567465 [GRCh37]
Chr15:15q11.1-11.2		 benign
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23656946)x3 copy number gain not provided [RCV000751174] Chr15:22750305..23656946 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22750305-23656946)x1 copy number loss not provided [RCV000751175] Chr15:22750305..23656946 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2-13.1(chr15:22750305-28535266)x1 copy number loss not provided [RCV000751176] Chr15:22750305..28535266 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22769771-23272733)x1 copy number loss not provided [RCV000751177] Chr15:22769771..23272733 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2-13.2(chr15:22835967-30371774)x4 copy number gain not provided [RCV000751178] Chr15:22835967..30371774 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NC_000015.10:g.23039993T>C single nucleotide variant not provided [RCV001681580] Chr15:23039993 [GRCh38]
Chr15:22833075 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.345G>T (p.Leu115=) single nucleotide variant not provided [RCV001725478] Chr15:23032789 [GRCh38]
Chr15:22840279 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.623-110T>C single nucleotide variant not provided [RCV001647950] Chr15:23027416 [GRCh38]
Chr15:22845652 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.2327+275C>T single nucleotide variant not provided [RCV001680859] Chr15:23008424 [GRCh38]
Chr15:22864644 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22833499-23577516)x1 copy number loss not provided [RCV003312315] Chr15:22833499..23577516 [GRCh37]
Chr15:15q11.2		 pathogenic
NM_052903.6(TUBGCP5):c.3029-210G>T single nucleotide variant not provided [RCV001707418] Chr15:23000076 [GRCh38]
Chr15:22872992 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22835916-23264190)x3 copy number gain not provided [RCV003312317] Chr15:22835916..23264190 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1 copy number loss not provided [RCV001006664] Chr15:22770421..36861479 [GRCh37]
Chr15:15q11.2-14		 pathogenic
NM_052903.6(TUBGCP5):c.772G>A (p.Val258Ile) single nucleotide variant not provided [RCV000971405] Chr15:23026171 [GRCh38]
Chr15:22846897 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.827+8A>G single nucleotide variant not provided [RCV000900270] Chr15:23026108 [GRCh38]
Chr15:22846960 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32915089)x4 copy number gain not provided [RCV001006663] Chr15:22770421..32915089 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22765628-23217514)x1 copy number loss Chromosome 15q11.2 deletion syndrome [RCV000856647] Chr15:22765628..23217514 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.1-13.2(chr15:20190548-30300265) copy number gain 15q11q13 microduplication syndrome [RCV000767717] Chr15:20190548..30300265 [GRCh37]
Chr15:15q11.1-13.2		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:20848750-32925141) copy number loss Angelman syndrome [RCV000767719] Chr15:20848750..32925141 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22383299-32917689) copy number gain 15q11q13 microduplication syndrome [RCV000767722] Chr15:22383299..32917689 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770994-28517432) copy number gain 15q11q13 microduplication syndrome [RCV000767723] Chr15:22770994..28517432 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number loss Angelman syndrome [RCV000767840] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22382860-32396457) copy number gain 15q11q13 microduplication syndrome [RCV000767720] Chr15:22382860..32396457 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
NM_052903.6(TUBGCP5):c.1999G>A (p.Gly667Ser) single nucleotide variant not provided [RCV000973965] Chr15:23010090 [GRCh38]
Chr15:22862978 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2-13.1(chr15:22816713-28530182) copy number gain 15q11q13 microduplication syndrome [RCV000767841] Chr15:22816713..28530182 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
NM_052903.6(TUBGCP5):c.2058G>A (p.Thr686=) single nucleotide variant not provided [RCV000881428] Chr15:23010031 [GRCh38]
Chr15:22863037 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.345G>A (p.Leu115=) single nucleotide variant not provided [RCV000905939] Chr15:23032789 [GRCh38]
Chr15:22840279 [GRCh37]
Chr15:15q11.2		 benign|likely benign
NM_052903.6(TUBGCP5):c.1431C>T (p.Asp477=) single nucleotide variant not provided [RCV000943124] Chr15:23019275 [GRCh38]
Chr15:22853793 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2(chr15:22770421-23282799) copy number loss Hypoplastic left heart syndrome 1 [RCV002280614] Chr15:22770421..23282799 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.1-13.1(chr15:20191652-28525310) copy number gain 15q11q13 microduplication syndrome [RCV000767718] Chr15:20191652..28525310 [GRCh37]
Chr15:15q11.1-13.1		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770994-29050198) copy number loss Angelman syndrome [RCV000767721] Chr15:22770994..29050198 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
NM_052903.6(TUBGCP5):c.2089A>G (p.Lys697Glu) single nucleotide variant not specified [RCV004301915] Chr15:23010000 [GRCh38]
Chr15:22863068 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.1-13.3(chr15:20179527-32998070)x3 copy number gain not provided [RCV000846014] Chr15:20179527..32998070 [GRCh37]
Chr15:15q11.1-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23272733)x1 copy number loss See cases [RCV001007409] Chr15:22750305..23272733 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386553)x4 copy number gain not provided [RCV001006662] Chr15:22770421..30386553 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
NM_052903.6(TUBGCP5):c.2607C>T (p.Phe869=) single nucleotide variant not provided [RCV000917143] Chr15:23005537 [GRCh38]
Chr15:22867531 [GRCh37]
Chr15:15q11.2		 likely benign
NM_052903.6(TUBGCP5):c.1605C>T (p.Ser535=) single nucleotide variant not provided [RCV000962991] Chr15:23017924 [GRCh38]
Chr15:22855144 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.198A>G (p.Glu66=) single nucleotide variant not provided [RCV000963314] Chr15:23037101 [GRCh38]
Chr15:22835967 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22299434-23226254)x1 copy number loss See cases [RCV001195070] Chr15:22299434..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22863000-22873325)x1 copy number loss not provided [RCV000849352] Chr15:22863000..22873325 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-22883815)x1 copy number loss not provided [RCV000848503] Chr15:22770421..22883815 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:21903815-23272733)x1 copy number loss See cases [RCV001007406] Chr15:21903815..23272733 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22652330-23272733)x1 copy number loss See cases [RCV001007419] Chr15:22652330..23272733 [GRCh37]
Chr15:15q11.2		 pathogenic
Single allele deletion Angelman syndrome [RCV001250750] Chr15:22833416..28566671 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23222284)x1 copy number loss See cases [RCV001195075] Chr15:22750305..23222284 [GRCh37]
Chr15:15q11.2		 pathogenic
Single allele deletion Angelman syndrome [RCV001250749] Chr15:22646692..28964445 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
NM_052903.6(TUBGCP5):c.1273C>T (p.Pro425Ser) single nucleotide variant not specified [RCV004308550] Chr15:23022057 [GRCh38]
Chr15:22851011 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22739723-23259294)x3 copy number gain not provided [RCV003312314] Chr15:22739723..23259294 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22833525-23412276)x1 copy number loss not provided [RCV003312316] Chr15:22833525..23412276 [GRCh37]
Chr15:15q11.2		 pathogenic
Single allele complex Esophageal atresia [RCV000986105] Chr15:22676913..30137106 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
NM_052903.6(TUBGCP5):c.2680G>A (p.Val894Met) single nucleotide variant not specified [RCV004293227] Chr15:23005464 [GRCh38]
Chr15:22867604 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.2328-218C>T single nucleotide variant not provided [RCV001708399] Chr15:23006570 [GRCh38]
Chr15:22866498 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.1487+148C>T single nucleotide variant not provided [RCV001651524] Chr15:23019071 [GRCh38]
Chr15:22853997 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.147-270G>A single nucleotide variant not provided [RCV001679409] Chr15:23037422 [GRCh38]
Chr15:22835646 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.622+283del deletion not provided [RCV001598901] Chr15:23030602 [GRCh38]
Chr15:22842449 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.3028+299T>C single nucleotide variant not provided [RCV001695882] Chr15:23000270 [GRCh38]
Chr15:22872798 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.195C>A (p.Ile65=) single nucleotide variant not provided [RCV000900938] Chr15:23037104 [GRCh38]
Chr15:22835964 [GRCh37]
Chr15:15q11.2		 likely benign
NM_052903.6(TUBGCP5):c.2664G>A (p.Val888=) single nucleotide variant not provided [RCV000881835] Chr15:23005480 [GRCh38]
Chr15:22867588 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.1470G>A (p.Arg490=) single nucleotide variant not provided [RCV000970484] Chr15:23019236 [GRCh38]
Chr15:22853832 [GRCh37]
Chr15:15q11.2		 likely benign
NM_052903.6(TUBGCP5):c.130G>A (p.Ala44Thr) single nucleotide variant not provided [RCV000890547] Chr15:23039414 [GRCh38]
Chr15:22833654 [GRCh37]
Chr15:15q11.2		 likely benign
NM_052903.6(TUBGCP5):c.1980T>C (p.Phe660=) single nucleotide variant not provided [RCV000912458] Chr15:23010109 [GRCh38]
Chr15:22862959 [GRCh37]
Chr15:15q11.2		 likely benign
NM_052903.6(TUBGCP5):c.195C>T (p.Ile65=) single nucleotide variant not provided [RCV000934295] Chr15:23037104 [GRCh38]
Chr15:22835964 [GRCh37]
Chr15:15q11.2		 likely benign
NM_052903.6(TUBGCP5):c.2920A>G (p.Thr974Ala) single nucleotide variant not provided [RCV000889837] Chr15:23003072 [GRCh38]
Chr15:22869996 [GRCh37]
Chr15:15q11.2		 likely benign
GRCh37/hg19 15q11.2(chr15:22770422-23620154)x1 copy number loss not provided [RCV002472556] Chr15:22770422..23620154 [GRCh37]
Chr15:15q11.2		 likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545601)x4 copy number gain not provided [RCV002473936] Chr15:22770422..28545601 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23109890)x1 copy number loss See cases [RCV001007437] Chr15:22750305..23109890 [GRCh37]
Chr15:15q11.2		 pathogenic
NM_052903.6(TUBGCP5):c.2839-55G>T single nucleotide variant not provided [RCV001537329] Chr15:23003208 [GRCh38]
Chr15:22869860 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.1756+130C>T single nucleotide variant not provided [RCV001659424] Chr15:23017643 [GRCh38]
Chr15:22855425 [GRCh37]
Chr15:15q11.2		 benign
NC_000015.10:g.23039866G>A single nucleotide variant not provided [RCV001675398] Chr15:23039866 [GRCh38]
Chr15:22833202 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.2839-151A>G single nucleotide variant not provided [RCV001670887] Chr15:23003304 [GRCh38]
Chr15:22869764 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22652330-23226254)x1 copy number loss See cases [RCV001194519] Chr15:22652330..23226254 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22835646-23272733)x3 copy number gain See cases [RCV001194539] Chr15:22835646..23272733 [GRCh37]
Chr15:15q11.2		 pathogenic
NM_052903.6(TUBGCP5):c.*77A>G single nucleotide variant not provided [RCV001686066] Chr15:22999743 [GRCh38]
Chr15:22873325 [GRCh37]
Chr15:15q11.2		 benign
NC_000015.10:g.23039950C>G single nucleotide variant not provided [RCV001693592] Chr15:23039950 [GRCh38]
Chr15:22833118 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.2327+69A>G single nucleotide variant not provided [RCV001645355] Chr15:23008630 [GRCh38]
Chr15:22864438 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.2328-95G>A single nucleotide variant not provided [RCV001670732] Chr15:23006447 [GRCh38]
Chr15:22866621 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22770994-23109890)x3 copy number gain See cases [RCV001194534] Chr15:22770994..23109890 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23164315)x3 copy number gain See cases [RCV001194575] Chr15:22750305..23164315 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22750305-23114374)x3 copy number gain See cases [RCV001007446] Chr15:22750305..23114374 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23082442)x1 copy number loss not provided [RCV001258582] Chr15:22770421..23082442 [GRCh37]
Chr15:15q11.2		 likely pathogenic
GRCh37/hg19 15q11.2-12(chr15:22833525-27193380)x4 copy number gain not provided [RCV001310299] Chr15:22833525..27193380 [GRCh37]
Chr15:15q11.2-12		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23283811)x1 copy number loss See cases [RCV002285078] Chr15:22770421..23283811 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22833525-23264865)x1 copy number loss not provided [RCV001531214] Chr15:22833525..23264865 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23291159)x1 copy number loss not provided [RCV001258581] Chr15:22770421..23291159 [GRCh37]
Chr15:15q11.2		 pathogenic|likely pathogenic
NM_052903.6(TUBGCP5):c.310-273C>T single nucleotide variant not provided [RCV001537146] Chr15:23033097 [GRCh38]
Chr15:22839971 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22695842-23300942)x1 copy number loss not provided [RCV001270654] Chr15:22695842..23300942 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22749635-23301317)x1 copy number loss not provided [RCV001270655] Chr15:22749635..23301317 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22765628-23191062) copy number loss Epileptic encephalopathy [RCV001291988]|Global developmental delay [RCV001291966] Chr15:22765628..23191062 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23082328)x1 copy number loss Cystic hygroma [RCV002284312]|See cases [RCV002305675] Chr15:22770421..23082328 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22833171-23220132)x1 copy number loss not provided [RCV001270657] Chr15:22833171..23220132 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22833321-23223777)x1 copy number loss not provided [RCV001270658] Chr15:22833321..23223777 [GRCh37]
Chr15:15q11.2		 pathogenic
NC_000015.10:g.22804175_30375696dup duplication 15q11q13 microduplication syndrome [RCV001420629] Chr15:22804175..30375696 [GRCh38]
Chr15:15q11.2-13.2		 pathogenic
NM_052903.6(TUBGCP5):c.623-224G>A single nucleotide variant not provided [RCV001692757] Chr15:23027530 [GRCh38]
Chr15:22845538 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.2839-111A>G single nucleotide variant not provided [RCV001670985] Chr15:23003264 [GRCh38]
Chr15:22869804 [GRCh37]
Chr15:15q11.2		 benign
NM_052903.6(TUBGCP5):c.310-286C>G single nucleotide variant not provided [RCV001710115] Chr15:23033110 [GRCh38]
Chr15:22839958 [GRCh37]
Chr15:15q11.2		 benign
GRCh37/hg19 15q11.2(chr15:22746948-23323445)x1 copy number loss See cases [RCV001526483] Chr15:22746948..23323445 [GRCh37]
Chr15:15q11.2		 likely pathogenic
Single allele duplication 15q11q13 microduplication syndrome [RCV002280354] Chr15:22810652..29822566 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23277435)x1 copy number loss See cases [RCV002285077] Chr15:22770421..23277435 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22743127-23246000)x1 copy number loss Chromosome 15q11.2 deletion syndrome [RCV001801215] Chr15:22743127..23246000 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22744149-23407579)x3 copy number gain Chromosome 15q11.2 deletion syndrome [RCV001801191] Chr15:22744149..23407579 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-12(chr15:22722801-26749200) copy number gain Cerebral palsy [RCV001796580] Chr15:22722801..26749200 [GRCh37]
Chr15:15q11.2-12		 risk factor
GRCh37/hg19 15q11.2(chr15:22832874-23223352)x1 copy number loss not provided [RCV001795862] Chr15:22832874..23223352 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770422-24058623)x3 copy number gain not provided [RCV001832958] Chr15:22770422..24058623 [GRCh37]
Chr15:15q11.2		 likely pathogenic
NC_000015.10:g.22723843_23122692dup duplication Neurodevelopmental disorder [RCV001839393] Chr15:22723843..23122692 [GRCh38]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770422-23195725)x1 copy number loss not provided [RCV001833029] Chr15:22770422..23195725 [GRCh37]
Chr15:15q11.2		 pathogenic|likely pathogenic
GRCh37/hg19 15q11.2(chr15:22811927-23082442)x1 copy number loss not provided [RCV001829217] Chr15:22811927..23082442 [GRCh37]
Chr15:15q11.2		 likely pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23625677)x1 copy number loss not provided [RCV001832878] Chr15:22770421..23625677 [GRCh37]
Chr15:15q11.2		 pathogenic|likely pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-28635058) copy number loss Prader-Willi syndrome [RCV002280643] Chr15:22770421..28635058 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22833525-23265556)x1 copy number loss not provided [RCV002262485] Chr15:22833525..23265556 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23288487)x3 copy number gain See cases [RCV002287570] Chr15:22770421..23288487 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:30370019-30374368) copy number gain See cases [RCV002286340] Chr15:30370019..30374368 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29057676)x3 copy number gain FETAL DEMISE [RCV002282734] Chr15:22770421..29057676 [GRCh37]
Chr15:15q11.2-13.1		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22736246-23265381)x1 copy number loss not provided [RCV002292909] Chr15:22736246..23265381 [GRCh37]
Chr15:15q11.2		 pathogenic
Single allele duplication 15q11q13 microduplication syndrome [RCV002286327] Chr15:22820239..23039543 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770421-29855014) copy number loss Angelman syndrome [RCV002280760] Chr15:22770421..29855014 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
Single allele complex Distal tetrasomy 15q [RCV002280777] Chr15:22770421..32446830 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23005425)x4 copy number gain See cases [RCV002286342] Chr15:22770421..23005425 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1 copy number loss See cases [RCV002287564] Chr15:22770421..23282799 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele copy number loss See cases [RCV002287640] Chr15:22770421..23282799 [GRCh37]
Chr15:15q11.2		 pathogenic
NM_052903.6(TUBGCP5):c.170A>G (p.Asn57Ser) single nucleotide variant not specified [RCV004281650] Chr15:23037129 [GRCh38]
Chr15:22835939 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770422-23082328)x1 copy number loss not provided [RCV002473823] Chr15:22770422..23082328 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.2(chr15:22770422-30386553)x4 copy number gain not provided [RCV002473944] Chr15:22770422..30386553 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770422-23082442)x1 copy number loss not provided [RCV002473783] Chr15:22770422..23082442 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28545355)x3 copy number gain not provided [RCV002474562] Chr15:22770422..28545355 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
NC_000015.10:g.(?_22786657)_(28299516_?)dup duplication 15q11q13 microduplication syndrome [RCV004584574] Chr15:22786657..28299516 [GRCh38]
Chr15:15q11.2-13.1		 likely pathogenic
NM_052903.6(TUBGCP5):c.793G>T (p.Val265Phe) single nucleotide variant not specified [RCV004198904] Chr15:23026150 [GRCh38]
Chr15:22846918 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.2539G>C (p.Val847Leu) single nucleotide variant not specified [RCV004130498] Chr15:23005605 [GRCh38]
Chr15:22867463 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22833525-28544662)x1 copy number loss not provided [RCV002511813] Chr15:22833525..28544662 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22833525-23262343)x1 copy number loss not provided [RCV002511811] Chr15:22833525..23262343 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22833525-23264190)x1 copy number loss not provided [RCV002511812] Chr15:22833525..23264190 [GRCh37]
Chr15:15q11.2		 pathogenic
NM_052903.6(TUBGCP5):c.868A>C (p.Ile290Leu) single nucleotide variant not specified [RCV004133494] Chr15:23024790 [GRCh38]
Chr15:22848278 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.365C>T (p.Ser122Leu) single nucleotide variant not specified [RCV004209510] Chr15:23032769 [GRCh38]
Chr15:22840299 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.301G>A (p.Glu101Lys) single nucleotide variant not specified [RCV004110503] Chr15:23036905 [GRCh38]
Chr15:22836163 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.1023C>G (p.Ser341Arg) single nucleotide variant not specified [RCV004229334] Chr15:23024092 [GRCh38]
Chr15:22848976 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.2561G>A (p.Arg854Gln) single nucleotide variant not specified [RCV004069847] Chr15:23005583 [GRCh38]
Chr15:22867485 [GRCh37]
Chr15:15q11.2		 likely benign
NM_052903.6(TUBGCP5):c.1424C>T (p.Thr475Met) single nucleotide variant not specified [RCV004123343] Chr15:23019282 [GRCh38]
Chr15:22853786 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.604C>G (p.Pro202Ala) single nucleotide variant not specified [RCV004072938] Chr15:23030903 [GRCh38]
Chr15:22842165 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.2084T>C (p.Ile695Thr) single nucleotide variant not specified [RCV004072655] Chr15:23010005 [GRCh38]
Chr15:22863063 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.473A>G (p.Tyr158Cys) single nucleotide variant not specified [RCV004213747] Chr15:23031963 [GRCh38]
Chr15:22841105 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.904G>A (p.Val302Ile) single nucleotide variant not specified [RCV004121725] Chr15:23024754 [GRCh38]
Chr15:22848314 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.1175C>T (p.Thr392Ile) single nucleotide variant not specified [RCV004223525] Chr15:23022155 [GRCh38]
Chr15:22850913 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.447A>C (p.Glu149Asp) single nucleotide variant not specified [RCV004207840] Chr15:23031989 [GRCh38]
Chr15:22841079 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.11A>G (p.His4Arg) single nucleotide variant not specified [RCV004080448] Chr15:23039533 [GRCh38]
Chr15:22833535 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication See cases [RCV003154623] Chr15:22833523..25223593 [GRCh37]
Chr15:15q11.2		 likely pathogenic
GRCh38/hg38 15q11.2(chr15:22787668-23051531) copy number loss Chromosome 15q11.2 deletion syndrome [RCV003223558] Chr15:22787668..23051531 [GRCh38]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1 copy number loss Chromosome 15q11.2 deletion syndrome [RCV003228699] Chr15:22770421..23282799 [GRCh37]
Chr15:15q11.2		 not provided
NM_052903.6(TUBGCP5):c.1921G>A (p.Val641Ile) single nucleotide variant not specified [RCV004265523] Chr15:23011167 [GRCh38]
Chr15:22861901 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.295A>G (p.Ile99Val) single nucleotide variant not specified [RCV004285430] Chr15:23036911 [GRCh38]
Chr15:22836157 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.3064G>A (p.Glu1022Lys) single nucleotide variant not specified [RCV004287486] Chr15:22999831 [GRCh38]
Chr15:22873237 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.763C>T (p.Pro255Ser) single nucleotide variant not specified [RCV004322664] Chr15:23026180 [GRCh38]
Chr15:22846888 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.591C>G (p.Asn197Lys) single nucleotide variant not specified [RCV004280888] Chr15:23030916 [GRCh38]
Chr15:22842152 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22070540-23262343)x1 copy number loss not provided [RCV003222837] Chr15:22070540..23262343 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22781888-23030923) copy number loss Chromosome 15q11.2 deletion syndrome [RCV003223557] Chr15:22781888..23030923 [GRCh38]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22787849-23051049) copy number loss Chromosome 15q11.2 deletion syndrome [RCV003223559] Chr15:22787849..23051049 [GRCh38]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.2(chr15:22770421-30386398) copy number gain 15q11q13 microduplication syndrome [RCV003319585] Chr15:22770421..30386398 [GRCh37]
Chr15:15q11.2-13.2		 pathogenic
NM_052903.6(TUBGCP5):c.1075A>G (p.Arg359Gly) single nucleotide variant not specified [RCV004329867] Chr15:23024040 [GRCh38]
Chr15:22849028 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.983A>G (p.Gln328Arg) single nucleotide variant not specified [RCV004327853] Chr15:23024132 [GRCh38]
Chr15:22848936 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2(chr15:22744149-23246340)x1 copy number loss Chromosome 15q11.2 deletion syndrome [RCV003329532] Chr15:22744149..23246340 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2-12(chr15:20966971-25963714)x1 copy number loss Angelman syndrome [RCV003327724] Chr15:20966971..25963714 [GRCh38]
Chr15:15q11.2-12		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22742396-28567325)x4 copy number gain not provided [RCV003326925] Chr15:22742396..28567325 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
NM_052903.6(TUBGCP5):c.2932G>C (p.Glu978Gln) single nucleotide variant not specified [RCV004360531] Chr15:23000665 [GRCh38]
Chr15:22872403 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.3071G>A (p.Ser1024Asn) single nucleotide variant not specified [RCV004365614] Chr15:22999824 [GRCh38]
Chr15:22873244 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.2444T>C (p.Leu815Ser) single nucleotide variant not provided [RCV003456885] Chr15:23006141 [GRCh38]
Chr15:22866927 [GRCh37]
Chr15:15q11.2		 likely benign
NM_052903.6(TUBGCP5):c.379G>A (p.Val127Met) single nucleotide variant not specified [RCV004346749] Chr15:23032755 [GRCh38]
Chr15:22840313 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.118G>T (p.Ala40Ser) single nucleotide variant not specified [RCV004354495] Chr15:23039426 [GRCh38]
Chr15:22833642 [GRCh37]
Chr15:15q11.2		 uncertain significance
Single allele duplication not provided [RCV003448679] Chr15:22750407..32516333 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
Single allele deletion not provided [RCV003448699] Chr15:22750407..23223112 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3 copy number gain not provided [RCV003485056] Chr15:22770422..36556562 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770422-32915593)x3 copy number gain not provided [RCV003485057] Chr15:22770422..32915593 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2-13.1(chr15:22770422-29013164)x3 copy number gain not provided [RCV003485058] Chr15:22770422..29013164 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770422-23679133)x1 copy number loss not provided [RCV003483219] Chr15:22770422..23679133 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22833525-23265556)x3 copy number gain not provided [RCV003390571] Chr15:22833525..23265556 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22542702-23121344)x1 copy number loss Microcephaly-digital anomalies-intellectual disability syndrome [RCV003444177] Chr15:22542702..23121344 [GRCh38]
Chr15:15q11.2		 pathogenic
NM_052903.6(TUBGCP5):c.2022A>T (p.Ser674=) single nucleotide variant not provided [RCV003426450] Chr15:23010067 [GRCh38]
Chr15:22863001 [GRCh37]
Chr15:15q11.2		 likely benign
NM_052903.6(TUBGCP5):c.1298C>T (p.Ala433Val) single nucleotide variant not provided [RCV003491815] Chr15:23022032 [GRCh38]
Chr15:22851036 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22633497-23084434) copy number loss Autism spectrum disorder [RCV003883419] Chr15:22633497..23084434 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23291159)x1 copy number loss not specified [RCV003987079] Chr15:22770421..23291159 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23281364)x1 copy number loss not specified [RCV003987098] Chr15:22770421..23281364 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23290863)x1 copy number loss not specified [RCV003987085] Chr15:22770421..23290863 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23283811)x1 copy number loss not specified [RCV003987080] Chr15:22770421..23283811 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1 copy number loss not specified [RCV003987110] Chr15:22836883..39108014 [GRCh37]
Chr15:15q11.2-14		 pathogenic
GRCh37/hg19 15q11.2-13.3(chr15:22770421-32446830)x3 copy number gain not specified [RCV003987077] Chr15:22770421..32446830 [GRCh37]
Chr15:15q11.2-13.3		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1 copy number loss not specified [RCV003987082] Chr15:22770421..23282799 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770421-23277435)x1 copy number loss not specified [RCV003987083] Chr15:22770421..23277435 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3 copy number gain not specified [RCV003987108] Chr15:22770421..50347130 [GRCh37]
Chr15:15q11.2-21.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770422-23277436)x1 copy number loss not provided [RCV004442784] Chr15:22770422..23277436 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh37/hg19 15q11.2-13.1(chr15:22770422-28962791)x1 copy number loss not provided [RCV004442787] Chr15:22770422..28962791 [GRCh37]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22770422-24249075)x1 copy number loss not provided [RCV004442748] Chr15:22770422..24249075 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22757538-23411062)x1 copy number loss not provided [RCV003885461] Chr15:22757538..23411062 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22833525-23265045)x1 copy number loss not provided [RCV003885463] Chr15:22833525..23265045 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22757538-23412276)x1 copy number loss not provided [RCV003885462] Chr15:22757538..23412276 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2-13.3(chr15:22612582-32116118) copy number gain 15q11q13 microduplication syndrome [RCV003985066] Chr15:22612582..32116118 [GRCh38]
Chr15:15q11.2-13.3		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22612582-29993699) copy number gain 15q11q13 microduplication syndrome [RCV003985067] Chr15:22612582..29993699 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
GRCh38/hg38 15q11.2-13.1(chr15:22612582-28435882)x4 copy number gain 15q11q13 microduplication syndrome [RCV003985068] Chr15:22612582..28435882 [GRCh38]
Chr15:15q11.2-13.1		 pathogenic
GRCh37/hg19 15q11.2(chr15:22835916-23411062)x1 copy number loss not provided [RCV003885464] Chr15:22835916..23411062 [GRCh37]
Chr15:15q11.2		 pathogenic
NM_052903.6(TUBGCP5):c.1048C>T (p.Pro350Ser) single nucleotide variant not specified [RCV004481684] Chr15:23024067 [GRCh38]
Chr15:22849001 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.1660C>T (p.Pro554Ser) single nucleotide variant not specified [RCV004481686] Chr15:23017869 [GRCh38]
Chr15:22855199 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.1859C>G (p.Ala620Gly) single nucleotide variant not specified [RCV004481687] Chr15:23011229 [GRCh38]
Chr15:22861839 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.2234A>G (p.Lys745Arg) single nucleotide variant not specified [RCV004481688] Chr15:23008792 [GRCh38]
Chr15:22864276 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.2326C>T (p.Arg776Cys) single nucleotide variant not specified [RCV004481689] Chr15:23008700 [GRCh38]
Chr15:22864368 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.248G>A (p.Ser83Asn) single nucleotide variant not specified [RCV004481690] Chr15:23036958 [GRCh38]
Chr15:22836110 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.369C>G (p.Asn123Lys) single nucleotide variant not specified [RCV004481693] Chr15:23032765 [GRCh38]
Chr15:22840303 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.424G>A (p.Asp142Asn) single nucleotide variant not specified [RCV004481694] Chr15:23032012 [GRCh38]
Chr15:22841056 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.293G>T (p.Ser98Ile) single nucleotide variant not specified [RCV004481691] Chr15:23036913 [GRCh38]
Chr15:22836155 [GRCh37]
Chr15:15q11.2		 uncertain significance
GRCh38/hg38 15q11.2(chr15:22776147-23076393) copy number loss 15q11.2 BP1-BP2 recurrent deletion [RCV004555165] Chr15:22776147..23076393 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22583760-23123885) copy number loss Chromosome 15q11.2 deletion syndrome [RCV004555175] Chr15:22583760..23123885 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh38/hg38 15q11.2(chr15:22600363-23120182) copy number loss Chromosome 15q11.2 deletion syndrome [RCV004555204] Chr15:22600363..23120182 [GRCh38]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22749885-23281802)x1 copy number loss not provided [RCV004577458] Chr15:22749885..23281802 [GRCh37]
Chr15:15q11.2		 pathogenic
GRCh37/hg19 15q11.2(chr15:22696624-23301066)x1 copy number loss not provided [RCV004577485] Chr15:22696624..23301066 [GRCh37]
Chr15:15q11.2		 uncertain significance
NC_000015.9:g.(?_22748211)_(23283310_?)del deletion not provided [RCV004583110] Chr15:22748211..23283310 [GRCh37]
Chr15:15q11.2		 likely benign
Single allele deletion Chromosome 15q11.2 deletion syndrome [RCV004698952] Chr15:22648948..23124083 [GRCh38]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.1214G>A (p.Arg405Gln) single nucleotide variant not specified [RCV004683005] Chr15:23022116 [GRCh38]
Chr15:22850952 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.2219C>T (p.Thr740Met) single nucleotide variant not specified [RCV004682997] Chr15:23008807 [GRCh38]
Chr15:22864261 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.2972A>G (p.His991Arg) single nucleotide variant not specified [RCV004682998] Chr15:23000625 [GRCh38]
Chr15:22872443 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.2641C>A (p.His881Asn) single nucleotide variant not specified [RCV004682999] Chr15:23005503 [GRCh38]
Chr15:22867565 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.281C>T (p.Ala94Val) single nucleotide variant not specified [RCV004683000] Chr15:23036925 [GRCh38]
Chr15:22836143 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.2950G>A (p.Glu984Lys) single nucleotide variant not specified [RCV004683002] Chr15:23000647 [GRCh38]
Chr15:22872421 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.1857G>T (p.Gln619His) single nucleotide variant not specified [RCV004683003] Chr15:23011231 [GRCh38]
Chr15:22861837 [GRCh37]
Chr15:15q11.2		 uncertain significance
NM_052903.6(TUBGCP5):c.801G>C (p.Glu267Asp) single nucleotide variant not specified [RCV004683004] Chr15:23026142 [GRCh38]
Chr15:22846926 [GRCh37]
Chr15:15q11.2		 uncertain significance
NC_000015.9:g.(?_22833525)_(23086411_?)del deletion not provided [RCV004583143] Chr15:22833525..23086411 [GRCh37]
Chr15:15q11.2		 likely benign
Single allele deletion Chromosome 15q11.2 deletion syndrome [RCV004759753] Chr15:22650251..23122942 [GRCh38]
Chr15:15q11.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1064
Count of miRNA genes:722
Interacting mature miRNAs:819
Transcripts:ENST00000283645, ENST00000453949, ENST00000558664, ENST00000558915, ENST00000559534, ENST00000559846, ENST00000561214
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2289410BW327_HBody weight QTL 327 (human)3.320.0001Body fat amount151998012945980129Human
2289430BMD7_HBone mineral density QTL 7 (human)3.320.0001Bone mineral density151998012945980129Human
407418445GWAS1067421_Hamino acid measurement QTL GWAS1067421 (human)0.000002amino acid measurement152299617922996180Human
1643523BW284_HBody Weight QTL 284 (human)1.950.0013Body weight152179288947792889Human
406887421GWAS536397_Hobsessive-compulsive disorder QTL GWAS536397 (human)0.000003obsessive-compulsive disorder152298756222987563Human
2289420BW314_HBody weight QTL 314 (human)2.720.0003Body weightlean mass151998012945980129Human
407391958GWAS1040934_Hbipolar disorder QTL GWAS1040934 (human)0.0000003bipolar disorder152301566223015663Human
407391959GWAS1040935_Hbipolar disorder QTL GWAS1040935 (human)0.000001bipolar disorder152299615822996159Human

Markers in Region
GDB:335751  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3q22.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map9q22.32UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2351 2788 2245 4861 1484 1991 4 433 1774 275 2231 6611 6233 52 3664 591 1543 1467 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001102610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054329039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332581 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054332582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007064420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008488915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB067486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC225825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC270170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP362649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA986465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000610294   ⟹   ENSP00000483015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1523,005,432 - 23,008,881 (-)Ensembl
Ensembl Acc Id: ENST00000612085   ⟹   ENSP00000479530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1523,026,123 - 23,036,964 (-)Ensembl
Ensembl Acc Id: ENST00000613552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1523,005,799 - 23,008,797 (-)Ensembl
Ensembl Acc Id: ENST00000614508   ⟹   ENSP00000484566
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1522,983,192 - 23,039,569 (-)Ensembl
Ensembl Acc Id: ENST00000615383   ⟹   ENSP00000480316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1522,999,177 - 23,039,569 (-)Ensembl
Ensembl Acc Id: ENST00000615455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1523,009,960 - 23,024,376 (-)Ensembl
Ensembl Acc Id: ENST00000620238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1523,003,091 - 23,004,570 (-)Ensembl
Ensembl Acc Id: ENST00000620435   ⟹   ENSP00000481853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1523,000,284 - 23,039,572 (-)Ensembl
Ensembl Acc Id: ENST00000622507   ⟹   ENSP00000479810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1523,026,177 - 23,036,948 (-)Ensembl
RefSeq Acc Id: NM_001102610   ⟹   NP_001096080
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381523,000,284 - 23,039,569 (-)NCBI
GRCh371522,833,395 - 22,873,891 (+)RGD
Build 361520,384,836 - 20,424,224 (+)NCBI Archive
Celera151,506,523 - 1,547,034 (-)RGD
HuRef151,146,027 - 1,186,592 (+)ENTREZGENE
CHM1_11522,782,441 - 22,821,825 (+)NCBI
T2T-CHM13v2.01520,672,161 - 20,711,463 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354372   ⟹   NP_001341301
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,983,025 - 23,039,569 (-)NCBI
T2T-CHM13v2.01520,654,893 - 20,711,463 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354373   ⟹   NP_001341302
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,983,025 - 23,039,569 (-)NCBI
T2T-CHM13v2.01520,654,893 - 20,711,463 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354374   ⟹   NP_001341303
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,983,025 - 23,039,569 (-)NCBI
T2T-CHM13v2.01520,654,893 - 20,711,463 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354375   ⟹   NP_001341304
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,991,677 - 23,039,569 (-)NCBI
T2T-CHM13v2.01520,663,549 - 20,711,463 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354376   ⟹   NP_001341305
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,991,677 - 23,039,569 (-)NCBI
T2T-CHM13v2.01520,663,549 - 20,711,463 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354377   ⟹   NP_001341306
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,999,177 - 23,039,569 (-)NCBI
T2T-CHM13v2.01520,671,054 - 20,711,463 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001354378   ⟹   NP_001341307
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381523,000,284 - 23,039,569 (-)NCBI
T2T-CHM13v2.01520,672,161 - 20,711,463 (-)NCBI
Sequence:
RefSeq Acc Id: NM_052903   ⟹   NP_443135
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,999,177 - 23,039,569 (-)NCBI
GRCh371522,833,395 - 22,873,891 (+)RGD
Build 361520,384,836 - 20,425,332 (+)NCBI Archive
Celera151,506,523 - 1,547,034 (-)RGD
HuRef151,146,027 - 1,186,592 (+)ENTREZGENE
CHM1_11522,782,441 - 22,822,933 (+)NCBI
T2T-CHM13v2.01520,671,054 - 20,711,463 (-)NCBI
Sequence:
RefSeq Acc Id: NR_148875
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,991,677 - 23,039,569 (-)NCBI
T2T-CHM13v2.01520,663,549 - 20,711,463 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543868   ⟹   XP_011542170
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,991,677 - 23,039,569 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011543870   ⟹   XP_011542172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,991,677 - 23,039,569 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021894   ⟹   XP_016877383
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,983,025 - 23,032,819 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021895   ⟹   XP_016877384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,983,025 - 23,039,173 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021896   ⟹   XP_016877385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,983,025 - 23,026,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017021901   ⟹   XP_016877390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,983,025 - 23,022,161 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432130   ⟹   XP_047288086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,983,025 - 23,039,176 (-)NCBI
RefSeq Acc Id: XM_047432131   ⟹   XP_047288087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,999,177 - 23,039,171 (-)NCBI
RefSeq Acc Id: XM_054377245   ⟹   XP_054233220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01520,663,549 - 20,711,463 (-)NCBI
RefSeq Acc Id: XM_054377246   ⟹   XP_054233221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01520,663,549 - 20,711,463 (-)NCBI
RefSeq Acc Id: XM_054377247   ⟹   XP_054233222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01520,654,893 - 20,711,071 (-)NCBI
RefSeq Acc Id: XM_054377248   ⟹   XP_054233223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01520,654,893 - 20,704,715 (-)NCBI
RefSeq Acc Id: XM_054377249   ⟹   XP_054233224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01520,654,893 - 20,711,068 (-)NCBI
RefSeq Acc Id: XM_054377250   ⟹   XP_054233225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01520,671,054 - 20,711,065 (-)NCBI
RefSeq Acc Id: XM_054377251   ⟹   XP_054233226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01520,654,893 - 20,698,102 (-)NCBI
RefSeq Acc Id: XM_054377252   ⟹   XP_054233227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01520,654,893 - 20,694,058 (-)NCBI
RefSeq Acc Id: XR_007064420
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381522,991,677 - 23,039,569 (-)NCBI
RefSeq Acc Id: XR_008488915
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01520,663,549 - 20,711,463 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001096080 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341301 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341302 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341303 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341304 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341305 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341306 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341307 (Get FASTA)   NCBI Sequence Viewer  
  NP_443135 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542170 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542172 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877383 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877384 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877385 (Get FASTA)   NCBI Sequence Viewer  
  XP_016877390 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288086 (Get FASTA)   NCBI Sequence Viewer  
  XP_047288087 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185012 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185013 (Get FASTA)   NCBI Sequence Viewer  
  XP_054185014 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188550 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188551 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188552 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188553 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188554 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188555 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188556 (Get FASTA)   NCBI Sequence Viewer  
  XP_054188557 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233220 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233221 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233222 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233223 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233224 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233225 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233226 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233227 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH46182 (Get FASTA)   NCBI Sequence Viewer  
  AAH71560 (Get FASTA)   NCBI Sequence Viewer  
  AAK77662 (Get FASTA)   NCBI Sequence Viewer  
  BAB67792 (Get FASTA)   NCBI Sequence Viewer  
  BAF82548 (Get FASTA)   NCBI Sequence Viewer  
  EAW65556 (Get FASTA)   NCBI Sequence Viewer  
  EAW65557 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000479530.1
  ENSP00000479810.1
  ENSP00000480316
  ENSP00000480316.1
  ENSP00000481853
  ENSP00000481853.1
  ENSP00000483015.1
  ENSP00000484428.1
  ENSP00000484566
  ENSP00000484566.1
  ENSP00000485682.1
  ENSP00000485856.1
  ENSP00000485928.1
  ENSP00000485940.1
  ENSP00000486220.1
  ENSP00000486245.1
  ENSP00000486427.1
  ENSP00000486628.1
  ENSP00000486735.1
  ENSP00000487038.1
  ENSP00000487344.1
  ENSP00000487481.1
GenBank Protein Q96RT8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_443135   ⟸   NM_052903
- Peptide Label: isoform a
- UniProtKB: Q6IQ52 (UniProtKB/Swiss-Prot),   E9PB12 (UniProtKB/Swiss-Prot),   Q96PY8 (UniProtKB/Swiss-Prot),   Q96RT8 (UniProtKB/Swiss-Prot),   A0A0G2JPW5 (UniProtKB/TrEMBL),   A8K1E4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001096080   ⟸   NM_001102610
- Peptide Label: isoform b
- UniProtKB: A0A0G2JQX1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542172   ⟸   XM_011543870
- Peptide Label: isoform X2
- UniProtKB: A0A087X1Z1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542170   ⟸   XM_011543868
- Peptide Label: isoform X1
- UniProtKB: A0A087X1Z1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877384   ⟸   XM_017021895
- Peptide Label: isoform X4
- UniProtKB: A8K1E4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877383   ⟸   XM_017021894
- Peptide Label: isoform X3
- UniProtKB: A8K1E4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016877385   ⟸   XM_017021896
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016877390   ⟸   XM_017021901
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: NP_001341303   ⟸   NM_001354374
- Peptide Label: isoform e
- UniProtKB: A0A0G2JPW5 (UniProtKB/TrEMBL),   A0A0G2JQX1 (UniProtKB/TrEMBL),   A8K1E4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341302   ⟸   NM_001354373
- Peptide Label: isoform d
- UniProtKB: A0A0G2JPW5 (UniProtKB/TrEMBL),   A0A0G2JQX1 (UniProtKB/TrEMBL),   A8K1E4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341301   ⟸   NM_001354372
- Peptide Label: isoform c
- UniProtKB: A0A0G2JPW5 (UniProtKB/TrEMBL),   A0A0G2JQX1 (UniProtKB/TrEMBL),   A8K1E4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341305   ⟸   NM_001354376
- Peptide Label: isoform g
- UniProtKB: A0A087X1Z1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341304   ⟸   NM_001354375
- Peptide Label: isoform f
- UniProtKB: A0A087X1Z1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341306   ⟸   NM_001354377
- Peptide Label: isoform h
- UniProtKB: A0A0G2JPW5 (UniProtKB/TrEMBL),   A8K1E4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341307   ⟸   NM_001354378
- Peptide Label: isoform i
- UniProtKB: A0A0G2JQX1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000481853   ⟸   ENST00000620435
Ensembl Acc Id: ENSP00000479810   ⟸   ENST00000622507
Ensembl Acc Id: ENSP00000483015   ⟸   ENST00000610294
Ensembl Acc Id: ENSP00000479530   ⟸   ENST00000612085
Ensembl Acc Id: ENSP00000484566   ⟸   ENST00000614508
Ensembl Acc Id: ENSP00000480316   ⟸   ENST00000615383
RefSeq Acc Id: XP_047288086   ⟸   XM_047432130
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047288087   ⟸   XM_047432131
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054233222   ⟸   XM_054377247
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054233224   ⟸   XM_054377249
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054233223   ⟸   XM_054377248
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054233226   ⟸   XM_054377251
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054233227   ⟸   XM_054377252
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054233221   ⟸   XM_054377246
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233220   ⟸   XM_054377245
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233225   ⟸   XM_054377250
- Peptide Label: isoform X5
Protein Domains
Gamma tubulin complex component C-terminal   Gamma tubulin complex component protein N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96RT8-F1-model_v2 AlphaFold Q96RT8 1-1024 view protein structure

Promoters
RGD ID:6792657
Promoter ID:HG_KWN:20627
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001102610,   OTTHUMT00000250998
Position:
Human AssemblyChrPosition (strand)Source
Build 361520,384,681 - 20,385,181 (+)MPROMDB
RGD ID:7228853
Promoter ID:EPDNEW_H20171
Type:initiation region
Name:TUBGCP5_1
Description:tubulin gamma complex associated protein 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20172  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381523,039,569 - 23,039,629EPDNEW
RGD ID:7228851
Promoter ID:EPDNEW_H20172
Type:multiple initiation site
Name:TUBGCP5_2
Description:tubulin gamma complex associated protein 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20171  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381523,040,101 - 23,040,161EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18600 AgrOrtholog
COSMIC TUBGCP5 COSMIC
Ensembl Genes ENSG00000275835 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000276856 UniProtKB/TrEMBL
  ENSG00000280807 UniProtKB/TrEMBL
Ensembl Transcript ENST00000610294.1 UniProtKB/TrEMBL
  ENST00000612085.4 UniProtKB/TrEMBL
  ENST00000614508 ENTREZGENE
  ENST00000614508.4 UniProtKB/TrEMBL
  ENST00000615383 ENTREZGENE
  ENST00000615383.5 UniProtKB/Swiss-Prot
  ENST00000620361.3 UniProtKB/TrEMBL
  ENST00000620435 ENTREZGENE
  ENST00000620435.4 UniProtKB/Swiss-Prot
  ENST00000622507.1 UniProtKB/TrEMBL
  ENST00000625230.1 UniProtKB/TrEMBL
  ENST00000625645.2 UniProtKB/TrEMBL
  ENST00000625753.1 UniProtKB/TrEMBL
  ENST00000625857.1 UniProtKB/TrEMBL
  ENST00000626276.2 UniProtKB/TrEMBL
  ENST00000626693.1 UniProtKB/TrEMBL
  ENST00000627961.1 UniProtKB/TrEMBL
  ENST00000628386.2 UniProtKB/TrEMBL
  ENST00000630031.2 UniProtKB/TrEMBL
  ENST00000630135.2 UniProtKB/TrEMBL
  ENST00000631056.1 UniProtKB/TrEMBL
  ENST00000631187.2 UniProtKB/TrEMBL
Gene3D-CATH 1.20.120.1900 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000275835 GTEx
  ENSG00000276856 GTEx
  ENSG00000280807 GTEx
HGNC ID HGNC:18600 ENTREZGENE
Human Proteome Map TUBGCP5 Human Proteome Map
InterPro GCP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GCP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GCP_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GCP_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:114791 UniProtKB/Swiss-Prot
NCBI Gene 114791 ENTREZGENE
OMIM 608147 OMIM
PANTHER GAMMA-TUBULIN COMPLEX COMPONENT 5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR19302 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam GCP_C_terminal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GCP_N_terminal UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38599 PharmGKB
UniProt A0A087WVL9_HUMAN UniProtKB/TrEMBL
  A0A087WVZ8_HUMAN UniProtKB/TrEMBL
  A0A087X006_HUMAN UniProtKB/TrEMBL
  A0A087X1Z1 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JPW5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JQI0_HUMAN UniProtKB/TrEMBL
  A0A0G2JQK2_HUMAN UniProtKB/TrEMBL
  A0A0G2JQK7_HUMAN UniProtKB/TrEMBL
  A0A0G2JQW0_HUMAN UniProtKB/TrEMBL
  A0A0G2JQX1 ENTREZGENE, UniProtKB/TrEMBL
  A0A0G2JR45_HUMAN UniProtKB/TrEMBL
  A0A0G2JRG1_HUMAN UniProtKB/TrEMBL
  A0A0G2JS51_HUMAN UniProtKB/TrEMBL
  A0A0G2JSA7_HUMAN UniProtKB/TrEMBL
  A8K1E4 ENTREZGENE, UniProtKB/TrEMBL
  E9PB12 ENTREZGENE
  GCP5_HUMAN UniProtKB/Swiss-Prot
  Q6IQ52 ENTREZGENE
  Q96PY8 ENTREZGENE
  Q96RT8 ENTREZGENE
UniProt Secondary E9PB12 UniProtKB/Swiss-Prot
  Q6IQ52 UniProtKB/Swiss-Prot
  Q96PY8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-06-19 TUBGCP5  tubulin gamma complex component 5  TUBGCP5  tubulin gamma complex associated protein 5  Symbol and/or name change 19259463 PROVISIONAL
2015-12-22 TUBGCP5  tubulin gamma complex associated protein 5    tubulin, gamma complex associated protein 5  Symbol and/or name change 5135510 APPROVED