RANBP6 (RAN binding protein 6) - Rat Genome Database

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Gene: RANBP6 (RAN binding protein 6) Homo sapiens
Analyze
Symbol: RANBP6
Name: RAN binding protein 6
RGD ID: 1313031
HGNC Page HGNC:9851
Description: Predicted to enable nuclear import signal receptor activity and nuclear localization sequence binding activity. Predicted to be involved in protein import into nucleus. Predicted to be active in cytoplasm; nucleus; and synapse.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ54311; ran-binding protein 6; Ran-GTP binding protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: LOC100419520  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3896,011,025 - 6,015,624 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl96,011,025 - 6,015,625 (-)EnsemblGRCh38hg38GRCh38
GRCh3796,011,025 - 6,015,624 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3696,001,019 - 6,005,618 (-)NCBINCBI36Build 36hg18NCBI36
Build 3496,001,019 - 6,005,618NCBI
Celera95,948,531 - 5,953,152 (-)NCBICelera
Cytogenetic Map9p24.1NCBI
HuRef95,966,995 - 5,971,616 (-)NCBIHuRef
CHM1_196,011,725 - 6,016,346 (-)NCBICHM1_1
T2T-CHM13v2.096,016,163 - 6,020,762 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IBA,IEA)
nucleus  (IBA,IEA)
synapse  (IEA,ISO)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15164053   PMID:15231748   PMID:15489334   PMID:16344560   PMID:21873635   PMID:22190034   PMID:22863883   PMID:23027611   PMID:23402259   PMID:23817569  
PMID:24388013   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26389662   PMID:27432908   PMID:28027390   PMID:28514442   PMID:28675297   PMID:29229926   PMID:29229958   PMID:30554943  
PMID:30833792   PMID:31073040   PMID:31091453   PMID:31678930   PMID:32838362   PMID:32877691   PMID:33637726   PMID:33766124   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34921745  
PMID:35271311   PMID:35696571   PMID:36180527   PMID:36215168   PMID:36538041   PMID:36597993   PMID:37689310  


Genomics

Comparative Map Data
RANBP6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3896,011,025 - 6,015,624 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl96,011,025 - 6,015,625 (-)EnsemblGRCh38hg38GRCh38
GRCh3796,011,025 - 6,015,624 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3696,001,019 - 6,005,618 (-)NCBINCBI36Build 36hg18NCBI36
Build 3496,001,019 - 6,005,618NCBI
Celera95,948,531 - 5,953,152 (-)NCBICelera
Cytogenetic Map9p24.1NCBI
HuRef95,966,995 - 5,971,616 (-)NCBIHuRef
CHM1_196,011,725 - 6,016,346 (-)NCBICHM1_1
T2T-CHM13v2.096,016,163 - 6,020,762 (-)NCBIT2T-CHM13v2.0
Ranbp6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391929,785,508 - 29,790,374 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1929,785,800 - 29,790,374 (-)EnsemblGRCm39 Ensembl
GRCm381929,808,108 - 29,812,974 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1929,808,400 - 29,812,974 (-)EnsemblGRCm38mm10GRCm38
MGSCv371929,882,598 - 29,887,464 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361929,874,395 - 29,878,950 (-)NCBIMGSCv36mm8
Celera1930,583,012 - 30,587,878 (-)NCBICelera
Cytogenetic Map19C1NCBI
cM Map1924.42NCBI
Ranbp6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81236,985,930 - 236,990,451 (-)NCBIGRCr8
mRatBN7.21227,572,394 - 227,576,915 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1227,572,105 - 227,576,942 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1235,974,226 - 235,978,747 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01242,903,911 - 242,908,432 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01235,723,700 - 235,728,221 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01247,980,976 - 247,985,553 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1247,982,180 - 247,985,497 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01255,231,403 - 255,235,924 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41233,518,476 - 233,522,997 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11233,683,664 - 233,687,020 (-)NCBI
Celera1224,722,465 - 224,726,986 (-)NCBICelera
Cytogenetic Map1q52NCBI
Ranbp6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554349,995,830 - 9,999,147 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554349,995,734 - 9,999,194 (-)NCBIChiLan1.0ChiLan1.0
RANBP6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211118,558,216 - 118,563,776 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19118,564,495 - 118,569,724 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v095,828,088 - 5,833,054 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.196,009,545 - 6,014,167 (-)NCBIpanpan1.1PanPan1.1panPan2
RANBP6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11127,045,626 - 27,050,264 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1125,813,054 - 25,817,695 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01127,899,566 - 27,904,207 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1127,899,569 - 27,904,147 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11126,612,053 - 26,616,694 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01126,432,073 - 26,436,714 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01127,099,443 - 27,104,084 (-)NCBIUU_Cfam_GSD_1.0
Ranbp6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947142,165,905 - 142,170,551 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936539619,874 - 623,191 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936539618,604 - 623,196 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RANBP6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1215,807,795 - 216,112,209 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11216,104,432 - 216,112,218 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21241,782,977 - 241,787,640 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RANBP6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11273,488,265 - 73,493,101 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1273,488,520 - 73,491,837 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603861,870,330 - 61,875,110 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ranbp6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473610,622,339 - 10,625,656 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473610,621,080 - 10,625,825 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RANBP6
37 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 copy number gain See cases [RCV000050612] Chr9:1592306..12387899 [GRCh38]
Chr9:1592306..12387899 [GRCh37]
Chr9:1582306..12377899 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 copy number loss See cases [RCV000052858] Chr9:220253..6073001 [GRCh38]
Chr9:220253..6073001 [GRCh37]
Chr9:210253..6063001 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 copy number loss See cases [RCV000052861] Chr9:220253..6968724 [GRCh38]
Chr9:220253..6968724 [GRCh37]
Chr9:210253..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 copy number loss See cases [RCV000054340] Chr9:211086..6106482 [GRCh38]
Chr9:211086..6106482 [GRCh37]
Chr9:201086..6096482 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1 copy number loss See cases [RCV000136787] Chr9:4152060..8518353 [GRCh38]
Chr9:4152060..8518353 [GRCh37]
Chr9:4142060..8508353 [NCBI36]
Chr9:9p24.2-24.1		 pathogenic
GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3 copy number gain See cases [RCV000136729] Chr9:3591159..9361786 [GRCh38]
Chr9:3591159..9361786 [GRCh37]
Chr9:3581159..9351786 [NCBI36]
Chr9:9p24.2-23		 pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 copy number loss See cases [RCV000142688] Chr9:220253..7733826 [GRCh38]
Chr9:220253..7733826 [GRCh37]
Chr9:210253..7723826 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
NM_012416.4(RANBP6):c.799C>G (p.Leu267Val) single nucleotide variant not specified [RCV004317113] Chr9:6014809 [GRCh38]
Chr9:6014809 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.1(chr9:5900207-6501065)x3 copy number gain not provided [RCV000416040] Chr9:5900207..6501065 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3		 pathogenic
GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 copy number gain See cases [RCV000510425] Chr9:5900425..30008330 [GRCh37]
Chr9:9p24.1-21.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23		 likely pathogenic
NM_012416.4(RANBP6):c.1857G>A (p.Met619Ile) single nucleotide variant not specified [RCV004319097] Chr9:6013751 [GRCh38]
Chr9:6013751 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.2594T>G (p.Ile865Ser) single nucleotide variant not specified [RCV004303584] Chr9:6013014 [GRCh38]
Chr9:6013014 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5909152-6111473)x3 copy number gain not provided [RCV000748147] Chr9:5909152..6111473 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.1(chr9:5849389-6253571)x1 copy number loss not provided [RCV001006197] Chr9:5849389..6253571 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.1(chr9:4613939-6144065)x1 copy number loss not provided [RCV001006191] Chr9:4613939..6144065 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
NM_012416.4(RANBP6):c.2651G>C (p.Arg884Thr) single nucleotide variant not specified [RCV004291809] Chr9:6012957 [GRCh38]
Chr9:6012957 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.2765T>C (p.Met922Thr) single nucleotide variant not specified [RCV004294497] Chr9:6012843 [GRCh38]
Chr9:6012843 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12127088) copy number loss Chromosome 9p deletion syndrome [RCV002280766] Chr9:203861..12127088 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12570076) copy number loss Chromosome 9p deletion syndrome [RCV002280768] Chr9:203861..12570076 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10283912)x1 copy number loss See cases [RCV002285070] Chr9:203861..10283912 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677) copy number gain Global developmental delay [RCV001352644] Chr9:2854435..6937677 [GRCh37]
Chr9:9p24.2-24.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268) copy number loss not specified [RCV002053814] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074) copy number loss not specified [RCV002053815] Chr9:203861..14694074 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277) copy number loss not specified [RCV002053816] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9631665) copy number loss not specified [RCV002053811] Chr9:203861..9631665 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) copy number loss not specified [RCV002053817] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462) copy number loss not specified [RCV002053810] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732) copy number loss not specified [RCV002053812] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331) copy number loss not specified [RCV002053809] Chr9:203861..7759331 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
Single allele deletion Chromosome 9p deletion syndrome [RCV002247737] Chr9:203987..11602476 [GRCh38]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1		 likely pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7959823) copy number loss Chromosome 9p deletion syndrome [RCV002280770] Chr9:203861..7959823 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1 copy number loss See cases [RCV002287555] Chr9:203861..15048247 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101) copy number loss Chromosome 9p deletion syndrome [RCV002280769] Chr9:4992582..19322101 [GRCh37]
Chr9:9p24.1-22.1		 pathogenic
NM_012416.4(RANBP6):c.1147C>G (p.Arg383Gly) single nucleotide variant not specified [RCV004305840] Chr9:6014461 [GRCh38]
Chr9:6014461 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.247G>C (p.Glu83Gln) single nucleotide variant not specified [RCV004165529] Chr9:6015361 [GRCh38]
Chr9:6015361 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.2203A>T (p.Met735Leu) single nucleotide variant not specified [RCV004136329] Chr9:6013405 [GRCh38]
Chr9:6013405 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.29C>T (p.Pro10Leu) single nucleotide variant not specified [RCV004074339] Chr9:6015579 [GRCh38]
Chr9:6015579 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.943C>A (p.His315Asn) single nucleotide variant not specified [RCV004247183] Chr9:6014665 [GRCh38]
Chr9:6014665 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.2338T>C (p.Ser780Pro) single nucleotide variant not specified [RCV004100432] Chr9:6013270 [GRCh38]
Chr9:6013270 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1480G>A (p.Val494Met) single nucleotide variant not specified [RCV004199311] Chr9:6014128 [GRCh38]
Chr9:6014128 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1804A>G (p.Met602Val) single nucleotide variant not specified [RCV004198630] Chr9:6013804 [GRCh38]
Chr9:6013804 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.32C>A (p.Ala11Glu) single nucleotide variant not specified [RCV004080748] Chr9:6015576 [GRCh38]
Chr9:6015576 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1607T>C (p.Val536Ala) single nucleotide variant not specified [RCV004132990] Chr9:6014001 [GRCh38]
Chr9:6014001 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.586G>A (p.Ala196Thr) single nucleotide variant not specified [RCV004159330] Chr9:6015022 [GRCh38]
Chr9:6015022 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.313G>C (p.Val105Leu) single nucleotide variant not specified [RCV004143102] Chr9:6015295 [GRCh38]
Chr9:6015295 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.2846G>A (p.Arg949His) single nucleotide variant not specified [RCV004069246] Chr9:6012762 [GRCh38]
Chr9:6012762 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.828C>G (p.Asp276Glu) single nucleotide variant not specified [RCV004193979] Chr9:6014780 [GRCh38]
Chr9:6014780 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1391A>G (p.Gln464Arg) single nucleotide variant not specified [RCV004169674] Chr9:6014217 [GRCh38]
Chr9:6014217 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1151A>G (p.His384Arg) single nucleotide variant not specified [RCV004167525] Chr9:6014457 [GRCh38]
Chr9:6014457 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.3125A>G (p.Asn1042Ser) single nucleotide variant not specified [RCV004187339] Chr9:6012483 [GRCh38]
Chr9:6012483 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.478C>G (p.Leu160Val) single nucleotide variant not specified [RCV004182436] Chr9:6015130 [GRCh38]
Chr9:6015130 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.505A>G (p.Ile169Val) single nucleotide variant not specified [RCV004133767] Chr9:6015103 [GRCh38]
Chr9:6015103 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1606G>T (p.Val536Phe) single nucleotide variant not specified [RCV004294560] Chr9:6014002 [GRCh38]
Chr9:6014002 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.2506C>G (p.Leu836Val) single nucleotide variant not specified [RCV004266106] Chr9:6013102 [GRCh38]
Chr9:6013102 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.5C>T (p.Ala2Val) single nucleotide variant not specified [RCV004266754] Chr9:6015603 [GRCh38]
Chr9:6015603 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.937G>A (p.Val313Ile) single nucleotide variant not specified [RCV004258645] Chr9:6014671 [GRCh38]
Chr9:6014671 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.2777A>G (p.Asn926Ser) single nucleotide variant not specified [RCV004295173] Chr9:6012831 [GRCh38]
Chr9:6012831 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.234G>T (p.Leu78Phe) single nucleotide variant not specified [RCV004280311] Chr9:6015374 [GRCh38]
Chr9:6015374 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.2744G>A (p.Arg915Gln) single nucleotide variant not specified [RCV004338227] Chr9:6012864 [GRCh38]
Chr9:6012864 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.899C>T (p.Pro300Leu) single nucleotide variant not specified [RCV004338563] Chr9:6014709 [GRCh38]
Chr9:6014709 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.517C>A (p.Gln173Lys) single nucleotide variant not specified [RCV004359688] Chr9:6015091 [GRCh38]
Chr9:6015091 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.2642G>T (p.Cys881Phe) single nucleotide variant not specified [RCV004360175] Chr9:6012966 [GRCh38]
Chr9:6012966 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1920G>C (p.Lys640Asn) single nucleotide variant not specified [RCV004357871] Chr9:6013688 [GRCh38]
Chr9:6013688 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.569A>C (p.Gln190Pro) single nucleotide variant not specified [RCV004360176] Chr9:6015039 [GRCh38]
Chr9:6015039 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.1(chr9:5849390-6017252)x1 copy number loss not provided [RCV003483053] Chr9:5849390..6017252 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
Single allele deletion not provided [RCV003448696] Chr9:204064..16456192 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
NM_012416.4(RANBP6):c.2085C>T (p.Tyr695=) single nucleotide variant not provided [RCV003435707] Chr9:6013523 [GRCh38]
Chr9:6013523 [GRCh37]
Chr9:9p24.1		 likely benign
GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1 copy number loss not specified [RCV003986799] Chr9:203861..19302836 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1 copy number loss not specified [RCV003986809] Chr9:203861..15508556 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203862-8548307)x1 copy number loss not specified [RCV003986852] Chr9:203862..8548307 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9128400)x1 copy number loss not specified [RCV003986818] Chr9:203861..9128400 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_012416.4(RANBP6):c.1006G>A (p.Glu336Lys) single nucleotide variant not specified [RCV004445826] Chr9:6014602 [GRCh38]
Chr9:6014602 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1217A>G (p.Asp406Gly) single nucleotide variant not specified [RCV004445827] Chr9:6014391 [GRCh38]
Chr9:6014391 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1466A>G (p.Tyr489Cys) single nucleotide variant not specified [RCV004445829] Chr9:6014142 [GRCh38]
Chr9:6014142 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1910C>T (p.Pro637Leu) single nucleotide variant not specified [RCV004445831] Chr9:6013698 [GRCh38]
Chr9:6013698 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.86C>T (p.Pro29Leu) single nucleotide variant not specified [RCV004445843] Chr9:6015522 [GRCh38]
Chr9:6015522 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1241T>C (p.Leu414Pro) single nucleotide variant not specified [RCV004445828] Chr9:6014367 [GRCh38]
Chr9:6014367 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1751A>G (p.Asp584Gly) single nucleotide variant not specified [RCV004445830] Chr9:6013857 [GRCh38]
Chr9:6013857 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1946C>T (p.Ala649Val) single nucleotide variant not specified [RCV004445832] Chr9:6013662 [GRCh38]
Chr9:6013662 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.2764A>G (p.Met922Val) single nucleotide variant not specified [RCV004445836] Chr9:6012844 [GRCh38]
Chr9:6012844 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.3175A>G (p.Ile1059Val) single nucleotide variant not specified [RCV004445840] Chr9:6012433 [GRCh38]
Chr9:6012433 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.1950C>T (p.Leu650=) single nucleotide variant not specified [RCV004445833] Chr9:6013658 [GRCh38]
Chr9:6013658 [GRCh37]
Chr9:9p24.1		 likely benign
NM_012416.4(RANBP6):c.3052A>G (p.Ile1018Val) single nucleotide variant not specified [RCV004445838] Chr9:6012556 [GRCh38]
Chr9:6012556 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.640A>C (p.Asn214His) single nucleotide variant not specified [RCV004445842] Chr9:6014968 [GRCh38]
Chr9:6014968 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.246T>G (p.Phe82Leu) single nucleotide variant not specified [RCV004445835] Chr9:6015362 [GRCh38]
Chr9:6015362 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.3167A>G (p.Asn1056Ser) single nucleotide variant not specified [RCV004445839] Chr9:6012441 [GRCh38]
Chr9:6012441 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.5C>G (p.Ala2Gly) single nucleotide variant not specified [RCV004445841] Chr9:6015603 [GRCh38]
Chr9:6015603 [GRCh37]
Chr9:9p24.1		 uncertain significance
NM_012416.4(RANBP6):c.2071C>G (p.Gln691Glu) single nucleotide variant not specified [RCV004445834] Chr9:6013537 [GRCh38]
Chr9:6013537 [GRCh37]
Chr9:9p24.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:565
Count of miRNA genes:461
Interacting mature miRNAs:487
Transcripts:ENST00000259569, ENST00000485372
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-36689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3796,011,106 - 6,011,184UniSTSGRCh37
Build 3696,001,106 - 6,001,184RGDNCBI36
Celera95,948,618 - 5,948,696RGD
Cytogenetic Map9p24.1UniSTS
HuRef95,967,082 - 5,967,160UniSTS
Stanford-G3 RH Map9245.0UniSTS
NCBI RH Map967.0UniSTS
GeneMap99-G3 RH Map9245.0UniSTS
WIAF-1640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3796,012,166 - 6,012,382UniSTSGRCh37
Build 3696,002,166 - 6,002,382RGDNCBI36
Celera95,949,678 - 5,949,894RGD
Cytogenetic Map9p24.1UniSTS
HuRef95,968,142 - 5,968,358UniSTS
GeneMap99-GB4 RH Map927.18UniSTS
NCBI RH Map967.0UniSTS
D9S1049E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3796,011,103 - 6,011,183UniSTSGRCh37
Build 3696,001,103 - 6,001,183RGDNCBI36
Celera95,948,615 - 5,948,695RGD
Cytogenetic Map9p24.1UniSTS
HuRef95,967,079 - 5,967,159UniSTS
GeneMap99-GB4 RH Map927.18UniSTS
NCBI RH Map954.1UniSTS
T03720  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p24.1UniSTS
Whitehead-YAC Contig Map9 UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1019 813 1119 261 1118 168 2312 683 2044 287 799 1345 107 1 478 1285 6 1
Low 1420 2086 607 363 745 297 2042 1510 1690 131 661 268 67 725 1503 1
Below cutoff 92 88 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001243202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001243203 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF039023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI568841 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA116213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA155272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA234653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC334669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC342914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000259569   ⟹   ENSP00000259569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl96,011,025 - 6,015,624 (-)Ensembl
RefSeq Acc Id: ENST00000485372   ⟹   ENSP00000485188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl96,013,498 - 6,015,612 (-)Ensembl
RefSeq Acc Id: ENST00000623170   ⟹   ENSP00000485482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl96,013,866 - 6,015,625 (-)Ensembl
RefSeq Acc Id: NM_001243202   ⟹   NP_001230131
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,011,025 - 6,015,624 (-)NCBI
GRCh3796,011,019 - 6,015,640 (-)NCBI
HuRef95,966,995 - 5,971,616 (-)NCBI
CHM1_196,011,725 - 6,016,346 (-)NCBI
T2T-CHM13v2.096,016,163 - 6,020,762 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001243203   ⟹   NP_001230132
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,011,025 - 6,015,624 (-)NCBI
HuRef95,966,995 - 5,971,616 (-)NCBI
CHM1_196,011,725 - 6,016,346 (-)NCBI
T2T-CHM13v2.096,016,163 - 6,020,762 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012416   ⟹   NP_036548
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,011,025 - 6,015,624 (-)NCBI
GRCh3796,011,019 - 6,015,640 (-)RGD
Build 3696,001,019 - 6,005,618 (-)NCBI Archive
Celera95,948,531 - 5,953,152 (-)RGD
HuRef95,966,995 - 5,971,616 (-)ENTREZGENE
CHM1_196,011,725 - 6,016,346 (-)NCBI
T2T-CHM13v2.096,016,163 - 6,020,762 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047423233   ⟹   XP_047279189
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3896,011,025 - 6,015,624 (-)NCBI
RefSeq Acc Id: XM_054362744   ⟹   XP_054218719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.096,016,163 - 6,020,762 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_036548   ⟸   NM_012416
- Peptide Label: isoform 1
- UniProtKB: Q7Z3V2 (UniProtKB/Swiss-Prot),   Q5T7X4 (UniProtKB/Swiss-Prot),   Q96E78 (UniProtKB/Swiss-Prot),   O60518 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001230132   ⟸   NM_001243203
- Peptide Label: isoform 3
- UniProtKB: A0A096LNS2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001230131   ⟸   NM_001243202
- Peptide Label: isoform 2
- UniProtKB: B4DTX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000485482   ⟸   ENST00000623170
RefSeq Acc Id: ENSP00000259569   ⟸   ENST00000259569
RefSeq Acc Id: ENSP00000485188   ⟸   ENST00000485372
RefSeq Acc Id: XP_047279189   ⟸   XM_047423233
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218719   ⟸   XM_054362744
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60518-F1-model_v2 AlphaFold O60518 1-1105 view protein structure

Promoters
RGD ID:6808025
Promoter ID:HG_KWN:62568
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NR_024094,   NR_024095
Position:
Human AssemblyChrPosition (strand)Source
Build 3696,005,361 - 6,005,861 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9851 AgrOrtholog
COSMIC RANBP6 COSMIC
Ensembl Genes ENSG00000137040 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000259569 ENTREZGENE
  ENST00000259569.6 UniProtKB/Swiss-Prot
  ENST00000485372 ENTREZGENE
  ENST00000485372.1 UniProtKB/TrEMBL
  ENST00000623170.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137040 GTEx
HGNC ID HGNC:9851 ENTREZGENE
Human Proteome Map RANBP6 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Importin_beta UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Importin_rep_4 UniProtKB/Swiss-Prot
  Importin_rep_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26953 UniProtKB/Swiss-Prot
NCBI Gene 26953 ENTREZGENE
PANTHER PTHR10527 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAN-BINDING PROTEIN 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam HEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEAT_EZ UniProtKB/Swiss-Prot
  Importin_rep_4 UniProtKB/Swiss-Prot
  Importin_rep_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34212 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A096LNS2 ENTREZGENE, UniProtKB/TrEMBL
  A0A096LPA6_HUMAN UniProtKB/TrEMBL
  B4DTX6 ENTREZGENE, UniProtKB/TrEMBL
  O60518 ENTREZGENE
  Q5T7X4 ENTREZGENE
  Q7Z3V2 ENTREZGENE
  Q96E78 ENTREZGENE
  RNBP6_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5T7X4 UniProtKB/Swiss-Prot
  Q7Z3V2 UniProtKB/Swiss-Prot
  Q96E78 UniProtKB/Swiss-Prot