KANK1 (KN motif and ankyrin repeat domains 1) - Rat Genome Database

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Gene: KANK1 (KN motif and ankyrin repeat domains 1) Homo sapiens
Analyze
Symbol: KANK1
Name: KN motif and ankyrin repeat domains 1
RGD ID: 1317065
HGNC Page HGNC:19309
Description: Enables beta-catenin binding activity. Involved in several processes, including negative regulation of cell projection organization; negative regulation of substrate adhesion-dependent cell spreading; and regulation of signal transduction. Acts upstream of or within negative regulation of actin filament polymerization. Located in cytoplasm; nucleus; and ruffle membrane. Implicated in spastic quadriplegic cerebral palsy 2. Biomarker of renal cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ANKRD15; ankyrin repeat domain 15; ankyrin repeat domain-containing protein 15; CPSQ2; DKFZp451G231; FLJ18161; KANK; KIAA0172; kidney ankyrin repeat-containing protein; KN motif and ankyrin repeat domain-containing protein 1; MGC43128
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: KANK1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389470,295 - 746,103 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9470,291 - 746,105 (+)EnsemblGRCh38hg38GRCh38
GRCh379470,295 - 746,103 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369494,703 - 736,103 (+)NCBINCBI36Build 36hg18NCBI36
Celera9421,697 - 662,617 (+)NCBICelera
Cytogenetic Map9p24.3NCBI
HuRef9422,063 - 697,776 (+)NCBIHuRef
CHM1_19469,730 - 745,633 (+)NCBICHM1_1
T2T-CHM13v2.09469,752 - 745,414 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
Cuprizon  (ISO)
cycloheximide  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP,ISO)
dibutyl phthalate  (ISO)
diuron  (ISO)
doxorubicin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
flutamide  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
glafenine  (ISO)
hydralazine  (EXP)
lead diacetate  (ISO)
lead(0)  (ISO)
lipopolysaccharide  (EXP)
menadione  (EXP)
methapyrilene  (EXP)
mitomycin C  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
ochratoxin A  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sunitinib  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vincaleukoblastine  (EXP)
vinclozolin  (ISO)

References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
5. A novel ankyrin repeat-containing gene (Kank) located at 9p24 is a growth suppressor of renal cell carcinoma. Sarkar S, etal., J Biol Chem. 2002 Sep 27;277(39):36585-91. Epub 2002 Jul 19.
Additional References at PubMed
PMID:8724849   PMID:12477932   PMID:15164053   PMID:15231748   PMID:15342556   PMID:15489334   PMID:15596059   PMID:15823577   PMID:16344560   PMID:16968744   PMID:17996375   PMID:18029348  
PMID:18458160   PMID:19171758   PMID:19506219   PMID:19554261   PMID:19559006   PMID:19834503   PMID:20073072   PMID:20164854   PMID:20360068   PMID:20379614   PMID:21685469   PMID:21873635  
PMID:22084092   PMID:22321011   PMID:22424883   PMID:22658674   PMID:22876580   PMID:22952844   PMID:23454270   PMID:23793025   PMID:24366813   PMID:24399197   PMID:25187374   PMID:25961457  
PMID:25973051   PMID:26496610   PMID:26739330   PMID:27410476   PMID:27684187   PMID:28067315   PMID:28284839   PMID:28514442   PMID:28731169   PMID:29117863   PMID:29158259   PMID:29183992  
PMID:29467281   PMID:29507755   PMID:29729439   PMID:29956815   PMID:30021884   PMID:30684669   PMID:31114072   PMID:31338836   PMID:31389241   PMID:31980649   PMID:32064933   PMID:32572027  
PMID:32787433   PMID:33046021   PMID:33309958   PMID:33961781   PMID:34079125   PMID:34349117   PMID:34672954   PMID:35271311   PMID:35320976   PMID:35944360   PMID:36215168   PMID:36543142  


Genomics

Comparative Map Data
KANK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389470,295 - 746,103 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9470,291 - 746,105 (+)EnsemblGRCh38hg38GRCh38
GRCh379470,295 - 746,103 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369494,703 - 736,103 (+)NCBINCBI36Build 36hg18NCBI36
Celera9421,697 - 662,617 (+)NCBICelera
Cytogenetic Map9p24.3NCBI
HuRef9422,063 - 697,776 (+)NCBIHuRef
CHM1_19469,730 - 745,633 (+)NCBICHM1_1
T2T-CHM13v2.09469,752 - 745,414 (+)NCBIT2T-CHM13v2.0
Kank1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391925,214,146 - 25,411,861 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1925,214,339 - 25,411,860 (+)EnsemblGRCm39 Ensembl
GRCm381925,236,732 - 25,434,498 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1925,236,975 - 25,434,496 (+)EnsemblGRCm38mm10GRCm38
MGSCv371925,311,692 - 25,508,986 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361925,304,299 - 25,501,593 (+)NCBIMGSCv36mm8
Celera1926,023,481 - 26,224,832 (+)NCBICelera
Cytogenetic Map19BNCBI
cM Map1920.33NCBI
Kank1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81232,381,720 - 232,500,834 (+)NCBIGRCr8
mRatBN7.21222,877,962 - 223,074,514 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1222,877,622 - 223,074,514 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1231,405,112 - 231,522,079 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01238,335,228 - 238,452,173 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01231,155,957 - 231,272,929 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01243,201,073 - 243,398,531 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1243,276,403 - 243,398,536 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01250,464,788 - 250,659,569 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41228,748,121 - 228,868,261 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11228,953,941 - 229,032,270 (+)NCBI
Celera1220,157,106 - 220,275,618 (+)NCBICelera
Cytogenetic Map1q51NCBI
Kank1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554345,191,846 - 5,279,739 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554345,247,278 - 5,279,043 (+)NCBIChiLan1.0ChiLan1.0
KANK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v211123,836,701 - 124,113,523 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan19123,842,644 - 124,119,465 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v09550,713 - 556,230 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19454,147 - 458,576 (+)NCBIpanpan1.1PanPan1.1panPan2
KANK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1189,446,340 - 89,618,716 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl189,480,399 - 89,618,143 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha189,881,037 - 90,088,470 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0189,960,930 - 90,168,925 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl189,960,543 - 90,168,925 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1189,606,742 - 89,814,600 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0189,319,249 - 89,527,336 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0190,086,221 - 90,294,502 (+)NCBIUU_Cfam_GSD_1.0
Kank1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947136,917,110 - 137,047,718 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365034,122,204 - 4,246,680 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365034,125,302 - 4,255,880 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KANK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1221,015,046 - 221,078,245 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11221,015,042 - 221,218,875 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21247,300,636 - 247,477,277 (-)NCBISscrofa10.2Sscrofa10.2susScr3
KANK1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11278,775,214 - 79,015,538 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1278,774,788 - 78,973,851 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603867,163,360 - 67,410,180 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kank1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247365,379,728 - 5,444,234 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247365,260,761 - 5,444,234 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KANK1
731 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015158.5(KANK1):c.38-178A>C single nucleotide variant not provided [RCV001766280] Chr9:710626 [GRCh38]
Chr9:710626 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.385C>T (p.Leu129Phe) single nucleotide variant not provided [RCV000523927] Chr9:711151 [GRCh38]
Chr9:711151 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.12:g.(606181_654801)_831563del deletion Cerebral palsy, spastic quadriplegic, 2 [RCV000003042] Chr9:654801..831563 [GRCh38]
Chr9:9p24.3
pathogenic
NM_015158.5(KANK1):c.255A>G (p.Ile85Met) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002499750]|not provided [RCV001367537] Chr9:711021 [GRCh38]
Chr9:711021 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3117_3122dup (p.1039ED[3]) duplication not provided [RCV000723056] Chr9:732486..732487 [GRCh38]
Chr9:732486..732487 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3112G>T (p.Glu1038Ter) single nucleotide variant not provided [RCV000723059] Chr9:732484 [GRCh38]
Chr9:732484 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1576dup (p.Met526fs) duplication not provided [RCV000723107] Chr9:712339..712340 [GRCh38]
Chr9:712339..712340 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3202C>T (p.Gln1068Ter) single nucleotide variant not provided [RCV000578682] Chr9:732574 [GRCh38]
Chr9:732574 [GRCh37]
Chr9:9p24.3
uncertain 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(chr9:204193-1288113)x3 copy number gain See cases [RCV000050695] Chr9:204193..1288113 [GRCh38]
Chr9:204193..1288113 [GRCh37]
Chr9:194193..1278113 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-1516367)x1 copy number loss See cases [RCV000050611] Chr9:204193..1516367 [GRCh38]
Chr9:204193..1516367 [GRCh37]
Chr9:194193..1506367 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1 copy number loss See cases [RCV000051039] Chr9:220253..3793376 [GRCh38]
Chr9:220253..3793376 [GRCh37]
Chr9:210253..3783376 [NCBI36]
Chr9:9p24.3-24.2
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(chr9:203993-500725)x3 copy number gain See cases [RCV000052203] Chr9:203993..500725 [GRCh38]
Chr9:203993..500725 [GRCh37]
Chr9:193993..490725 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:472086-602792)x3 copy number gain See cases [RCV000052216] Chr9:472086..602792 [GRCh38]
Chr9:472086..602792 [GRCh37]
Chr9:462086..592792 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:220253-1243237)x1 copy number loss See cases [RCV000052845] Chr9:220253..1243237 [GRCh38]
Chr9:220253..1243237 [GRCh37]
Chr9:210253..1233237 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:313298-472145)x1 copy number loss See cases [RCV000052846] Chr9:313298..472145 [GRCh38]
Chr9:313298..472145 [GRCh37]
Chr9:303298..462145 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:556625-789845)x1 copy number loss See cases [RCV000052847] Chr9:556625..789845 [GRCh38]
Chr9:556625..789845 [GRCh37]
Chr9:546625..779845 [NCBI36]
Chr9:9p24.3
uncertain significance
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 9p24.3-24.1(chr9:220253-5140455)x1 copy number loss See cases [RCV000052859] Chr9:220253..5140455 [GRCh38]
Chr9:220253..5140455 [GRCh37]
Chr9:210253..5130455 [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 9p24.3-24.2(chr9:280255-3905421)x1 copy number loss See cases [RCV000052862] Chr9:280255..3905421 [GRCh38]
Chr9:280255..3905421 [GRCh37]
Chr9:270255..3895421 [NCBI36]
Chr9:9p24.3-24.2
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 9p24.3-24.2(chr9:204193-3468435)x3 copy number gain See cases [RCV000053705] Chr9:204193..3468435 [GRCh38]
Chr9:204193..3468435 [GRCh37]
Chr9:194193..3458435 [NCBI36]
Chr9:9p24.3-24.2
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 9p24.3-24.2(chr9:203993-4164349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054328]|See cases [RCV000054328] Chr9:203993..4164349 [GRCh38]
Chr9:203993..4164349 [GRCh37]
Chr9:193993..4154349 [NCBI36]
Chr9:9p24.3-24.2
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
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
NM_015158.5(KANK1):c.633G>C (p.Gln211His) single nucleotide variant not provided [RCV000514287] Chr9:711399 [GRCh38]
Chr9:711399 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1801G>A (p.Glu601Lys) single nucleotide variant not provided [RCV000515083] Chr9:712567 [GRCh38]
Chr9:712567 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3554-10_3554-5del deletion not provided [RCV000514909] Chr9:740770..740775 [GRCh38]
Chr9:740772..740777 [GRCh37]
Chr9:9p24.3
benign|likely benign
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 9p24.3-24.2(chr9:204193-4210335)x1 copy number loss See cases [RCV000134138] Chr9:204193..4210335 [GRCh38]
Chr9:204193..4210335 [GRCh37]
Chr9:194193..4200335 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
GRCh38/hg38 9p24.3(chr9:204090-639077)x3 copy number gain See cases [RCV000133932] Chr9:204090..639077 [GRCh38]
Chr9:204090..639077 [GRCh37]
Chr9:194090..629077 [NCBI36]
Chr9:9p24.3
benign
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(chr9:329684-500525)x3 copy number gain See cases [RCV000135109] Chr9:329684..500525 [GRCh38]
Chr9:329684..500525 [GRCh37]
Chr9:319684..490525 [NCBI36]
Chr9:9p24.3
benign
GRCh38/hg38 9p24.3(chr9:534531-805606)x3 copy number gain See cases [RCV000135234] Chr9:534531..805606 [GRCh38]
Chr9:534531..805606 [GRCh37]
Chr9:524531..795606 [NCBI36]
Chr9:9p24.3
likely benign
GRCh38/hg38 9p24.3(chr9:280255-753314)x1 copy number loss See cases [RCV000135814] Chr9:280255..753314 [GRCh38]
Chr9:280255..753314 [GRCh37]
Chr9:270255..743314 [NCBI36]
Chr9:9p24.3
uncertain significance
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(chr9:556625-703693)x1 copy number loss See cases [RCV000135841] Chr9:556625..703693 [GRCh38]
Chr9:556625..703693 [GRCh37]
Chr9:546625..693693 [NCBI36]
Chr9:9p24.3
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 9p24.3-23(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 9p24.3(chr9:314969-910448)x4 copy number gain See cases [RCV000136638] Chr9:314969..910448 [GRCh38]
Chr9:314969..910448 [GRCh37]
Chr9:304969..900448 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:204193-1592365)x1 copy number loss See cases [RCV000136667] Chr9:204193..1592365 [GRCh38]
Chr9:204193..1592365 [GRCh37]
Chr9:194193..1582365 [NCBI36]
Chr9:9p24.3
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(chr9:706283-1457665)x3 copy number gain See cases [RCV000137323] Chr9:706283..1457665 [GRCh38]
Chr9:706283..1457665 [GRCh37]
Chr9:696283..1447665 [NCBI36]
Chr9:9p24.3
likely benign
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 9p24.3-24.1(chr9:204104-5695507)x1 copy number loss See cases [RCV000137376] Chr9:204104..5695507 [GRCh38]
Chr9:204104..5695507 [GRCh37]
Chr9:194104..5685507 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 copy number loss See cases [RCV000138118] Chr9:204104..5657733 [GRCh38]
Chr9:204104..5657733 [GRCh37]
Chr9:194104..5647733 [NCBI36]
Chr9:9p24.3-24.1
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-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 9p24.3-24.1(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 9p24.3-24.2(chr9:204104-3755031)x1 copy number loss See cases [RCV000137914] Chr9:204104..3755031 [GRCh38]
Chr9:204104..3755031 [GRCh37]
Chr9:194104..3745031 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
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(chr9:579739-753199)x3 copy number gain See cases [RCV000138686] Chr9:579739..753199 [GRCh38]
Chr9:579739..753199 [GRCh37]
Chr9:569739..743199 [NCBI36]
Chr9:9p24.3
benign|likely benign|conflicting data from submitters
NM_015158.5(KANK1):c.1760A>G (p.Glu587Gly) single nucleotide variant not provided [RCV000514494] Chr9:712526 [GRCh38]
Chr9:712526 [GRCh37]
Chr9:9p24.3
benign|likely benign
GRCh38/hg38 9p24.3(chr9:639018-753199)x1 copy number loss See cases [RCV000138498] Chr9:639018..753199 [GRCh38]
Chr9:639018..753199 [GRCh37]
Chr9:629018..743199 [NCBI36]
Chr9:9p24.3
uncertain significance
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(chr9:204104-1457665)x1 copy number loss See cases [RCV000138306] Chr9:204104..1457665 [GRCh38]
Chr9:204104..1457665 [GRCh37]
Chr9:194104..1447665 [NCBI36]
Chr9:9p24.3
uncertain significance
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(chr9:325759-500607)x3 copy number gain See cases [RCV000139209] Chr9:325759..500607 [GRCh38]
Chr9:325759..500607 [GRCh37]
Chr9:315759..490607 [NCBI36]
Chr9:9p24.3
benign
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(chr9:459131-862833)x3 copy number gain See cases [RCV000139154] Chr9:459131..862833 [GRCh38]
Chr9:459131..862833 [GRCh37]
Chr9:449131..852833 [NCBI36]
Chr9:9p24.3
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(chr9:349034-862771)x3 copy number gain See cases [RCV000140409] Chr9:349034..862771 [GRCh38]
Chr9:349034..862771 [GRCh37]
Chr9:339034..852771 [NCBI36]
Chr9:9p24.3
likely benign
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(chr9:203861-547543)x3 copy number gain See cases [RCV000140896] Chr9:203861..547543 [GRCh38]
Chr9:203861..547543 [GRCh37]
Chr9:193861..537543 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:592076-694567)x1 copy number loss See cases [RCV000140898] Chr9:592076..694567 [GRCh38]
Chr9:592076..694567 [GRCh37]
Chr9:582076..684567 [NCBI36]
Chr9:9p24.3
uncertain significance
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(chr9:409397-560630)x1 copy number loss See cases [RCV000141954] Chr9:409397..560630 [GRCh38]
Chr9:409397..560630 [GRCh37]
Chr9:399397..550630 [NCBI36]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2486G>A (p.Arg829His) single nucleotide variant not provided [RCV001853269]|not specified [RCV000203061] Chr9:713252 [GRCh38]
Chr9:713252 [GRCh37]
Chr9:9p24.3
uncertain significance
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(chr9:611189-705931)x1 copy number loss See cases [RCV000141775] Chr9:611189..705931 [GRCh38]
Chr9:611189..705931 [GRCh37]
Chr9:601189..695931 [NCBI36]
Chr9:9p24.3
uncertain significance
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 9p24.3-24.2(chr9:203861-4585050)x1 copy number loss See cases [RCV000142301] Chr9:203861..4585050 [GRCh38]
Chr9:203861..4585050 [GRCh37]
Chr9:193861..4575050 [NCBI36]
Chr9:9p24.3-24.2
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(chr9:608682-705931)x1 copy number loss See cases [RCV000142083] Chr9:608682..705931 [GRCh38]
Chr9:608682..705931 [GRCh37]
Chr9:598682..695931 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:396379-1198422)x3 copy number gain See cases [RCV000142094] Chr9:396379..1198422 [GRCh38]
Chr9:396379..1198422 [GRCh37]
Chr9:386379..1188422 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:608682-705168)x1 copy number loss See cases [RCV000142158] Chr9:608682..705168 [GRCh38]
Chr9:608682..705168 [GRCh37]
Chr9:598682..695168 [NCBI36]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3 copy number gain See cases [RCV000142816] Chr9:204090..4970154 [GRCh38]
Chr9:204090..4970154 [GRCh37]
Chr9:194090..4960154 [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 9p24.3-24.2(chr9:266045-3346702)x1 copy number loss See cases [RCV000142630] Chr9:266045..3346702 [GRCh38]
Chr9:266045..3346702 [GRCh37]
Chr9:256045..3336702 [NCBI36]
Chr9:9p24.3-24.2
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 9p24.3-24.1(chr9:203861-5094461)x1 copy number loss See cases [RCV000143637] Chr9:203861..5094461 [GRCh38]
Chr9:203861..5094461 [GRCh37]
Chr9:193861..5084461 [NCBI36]
Chr9:9p24.3-24.1
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
NM_153186.4(KANK1):c.-312435_-438+216dup duplication Normal pregnancy [RCV000161557] Chr9:395250..707463 [GRCh38]
Chr9:395250..707463 [GRCh37]
Chr9:9p24.3
not provided
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_015158.5(KANK1):c.3992C>G (p.Ser1331Cys) single nucleotide variant Abnormality of neuronal migration [RCV000201344] Chr9:744585 [GRCh38]
Chr9:744585 [GRCh37]
Chr9:9p24.3
benign|uncertain significance
NM_015158.5(KANK1):c.5del (p.Ala2fs) deletion Abnormality of neuronal migration [RCV000201405] Chr9:676977 [GRCh38]
Chr9:676977 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2725T>G (p.Cys909Gly) single nucleotide variant not provided [RCV000891895] Chr9:730077 [GRCh38]
Chr9:730077 [GRCh37]
Chr9:9p24.3
benign|likely benign
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
NM_015158.5(KANK1):c.1360G>A (p.Glu454Lys) single nucleotide variant not provided [RCV000515615] Chr9:712126 [GRCh38]
Chr9:712126 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3554-5T>A single nucleotide variant not provided [RCV000969037]|not specified [RCV000239038] Chr9:740787 [GRCh38]
Chr9:740787 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
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
NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002481716]|KANK1- Related Disorder [RCV000709863]|not provided [RCV000521449] Chr9:712577 [GRCh38]
Chr9:712577 [GRCh37]
Chr9:9p24.3
uncertain significance|not provided
GRCh37/hg19 9p24.3(chr9:691104-1063787)x1 copy number loss not specified [RCV000515655] Chr9:691104..1063787 [GRCh37]
Chr9:9p24.3
uncertain significance
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_015158.5(KANK1):c.3130C>T (p.Arg1044Trp) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002494893]|not provided [RCV000259968] Chr9:732502 [GRCh38]
Chr9:732502 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1417G>A (p.Glu473Lys) single nucleotide variant not provided [RCV000300034] Chr9:712183 [GRCh38]
Chr9:712183 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1652G>A (p.Cys551Tyr) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002489197]|not provided [RCV000489460] Chr9:712418 [GRCh38]
Chr9:712418 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3361G>T (p.Glu1121Ter) single nucleotide variant not provided [RCV000723058] Chr9:738312 [GRCh38]
Chr9:738312 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1791del (p.Ser598fs) deletion not provided [RCV000722487] Chr9:712557 [GRCh38]
Chr9:712557 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.972T>A (p.Tyr324Ter) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002506441]|not provided [RCV000597072] Chr9:711738 [GRCh38]
Chr9:711738 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1469_1470del (p.Gln490fs) deletion not provided [RCV000599285] Chr9:712235..712236 [GRCh38]
Chr9:712235..712236 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1579G>A (p.Val527Ile) single nucleotide variant not provided [RCV000522345] Chr9:712345 [GRCh38]
Chr9:712345 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.95T>C (p.Phe32Ser) single nucleotide variant KANK1-related condition [RCV003980113]|not provided [RCV000598173] Chr9:710861 [GRCh38]
Chr9:710861 [GRCh37]
Chr9:9p24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015158.5(KANK1):c.876dup (p.Val293fs) duplication not provided [RCV000627490] Chr9:711641..711642 [GRCh38]
Chr9:711641..711642 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.565G>A (p.Gly189Ser) single nucleotide variant KANK1-related condition [RCV003935628]|not provided [RCV000906302]|not specified [RCV000594868] Chr9:711331 [GRCh38]
Chr9:711331 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3237C>G (p.Ile1079Met) single nucleotide variant Abnormal brain morphology [RCV000454209] Chr9:732609 [GRCh38]
Chr9:732609 [GRCh37]
Chr9:9p24.3
likely pathogenic
GRCh37/hg19 9p24.3(chr9:498269-566624)x1 copy number loss See cases [RCV000447100] Chr9:498269..566624 [GRCh37]
Chr9:9p24.3
uncertain significance
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(chr9:611150-694567)x1 copy number loss See cases [RCV000446112] Chr9:611150..694567 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1 copy number loss See cases [RCV000447358] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1
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(chr9:414668-703634)x3 copy number gain See cases [RCV000446461] Chr9:414668..703634 [GRCh37]
Chr9:9p24.3
likely benign
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
NM_015158.5(KANK1):c.2896+18C>T single nucleotide variant not provided [RCV000515057] Chr9:730266 [GRCh38]
Chr9:730266 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.149A>T (p.Asp50Val) single nucleotide variant Amyotrophic lateral sclerosis [RCV003105894]|not provided [RCV000430887]|not specified [RCV000598207] Chr9:710915 [GRCh38]
Chr9:710915 [GRCh37]
Chr9:9p24.3
benign|likely benign|uncertain significance
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
NM_015158.5(KANK1):c.2479A>G (p.Ile827Val) single nucleotide variant not provided [RCV000441945] Chr9:713245 [GRCh38]
Chr9:713245 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:327733-739194)x3 copy number gain See cases [RCV000448002] Chr9:327733..739194 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:453133-516638)x1 copy number loss See cases [RCV000448485] Chr9:453133..516638 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:213161-3497920)x1 copy number loss See cases [RCV000448791] Chr9:213161..3497920 [GRCh37]
Chr9:9p24.3-24.2
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(chr9:512004-706265)x1 copy number loss See cases [RCV000448392] Chr9:512004..706265 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2933T>C (p.Met978Thr) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV000477905] Chr9:731194 [GRCh38]
Chr9:731194 [GRCh37]
Chr9:9p24.3
likely pathogenic|uncertain significance
NM_015158.5(KANK1):c.1038C>G (p.Tyr346Ter) single nucleotide variant not provided [RCV001861660]|not specified [RCV000455643] Chr9:711804 [GRCh38]
Chr9:711804 [GRCh37]
Chr9:9p24.3
uncertain significance
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 9p24.3(chr9:460071-516638)x3 copy number gain See cases [RCV000510368] Chr9:460071..516638 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:309052-518538)x3 copy number gain See cases [RCV000510591] Chr9:309052..518538 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:525953-820485)x3 copy number gain See cases [RCV000510400] Chr9:525953..820485 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-498236)x4 copy number gain See cases [RCV000512021] Chr9:203861..498236 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3(chr9:402279-516638)x3 copy number gain See cases [RCV000511976] Chr9:402279..516638 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3(chr9:608595-694567)x1 copy number loss See cases [RCV000511442] Chr9:608595..694567 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:611150-694567)x1 copy number loss See cases [RCV000511790] Chr9:611150..694567 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3(chr9:314208-518499)x3 copy number gain See cases [RCV000511908] Chr9:314208..518499 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:608682-694567)x1 copy number loss See cases [RCV000511754] Chr9:608682..694567 [GRCh37]
Chr9:9p24.3
uncertain significance
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(chr9:203861-1677474)x3 copy number gain See cases [RCV000511819] Chr9:203861..1677474 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:526008-813180)x3 copy number gain See cases [RCV000511581] Chr9:526008..813180 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:637962-678832)x1 copy number loss See cases [RCV000511642] Chr9:637962..678832 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:314208-518103)x3 copy number gain See cases [RCV000511783] Chr9:314208..518103 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3(chr9:399333-740132)x3 copy number gain See cases [RCV000510800] Chr9:399333..740132 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:249920-540091)x3 copy number gain See cases [RCV000511043] Chr9:249920..540091 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:533325-635302)x3 copy number gain See cases [RCV000511198] Chr9:533325..635302 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:388166-512005)x3 copy number gain See cases [RCV000511117] Chr9:388166..512005 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-584635)x3 copy number gain See cases [RCV000511136] Chr9:203861..584635 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:407226-566020)x3 copy number gain See cases [RCV000510903] Chr9:407226..566020 [GRCh37]
Chr9:9p24.3
uncertain significance
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
GRCh37/hg19 9p24.3(chr9:203861-1672167)x3 copy number gain See cases [RCV000511277] Chr9:203861..1672167 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:269430-694567)x3 copy number gain See cases [RCV000510953] Chr9:269430..694567 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.130G>T (p.Asp44Tyr) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV000723309] Chr9:710896 [GRCh38]
Chr9:710896 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1735G>A (p.Asp579Asn) single nucleotide variant Inborn genetic diseases [RCV003272557] Chr9:712501 [GRCh38]
Chr9:712501 [GRCh37]
Chr9:9p24.3
uncertain significance
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
NM_015158.5(KANK1):c.38-3361G>A single nucleotide variant not provided [RCV003312729] Chr9:707443 [GRCh38]
Chr9:707443 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1490C>G (p.Ser497Trp) single nucleotide variant Inborn genetic diseases [RCV003286125] Chr9:712256 [GRCh38]
Chr9:712256 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3446A>G (p.Asp1149Gly) single nucleotide variant Inborn genetic diseases [RCV003303807] Chr9:738397 [GRCh38]
Chr9:738397 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3220C>T (p.Pro1074Ser) single nucleotide variant Inborn genetic diseases [RCV003254365] Chr9:732592 [GRCh38]
Chr9:732592 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2885C>T (p.Ala962Val) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV000655956] Chr9:730237 [GRCh38]
Chr9:730237 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1885G>C (p.Gly629Arg) single nucleotide variant Inborn genetic diseases [RCV003280392] Chr9:712651 [GRCh38]
Chr9:712651 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-519592)x3 copy number gain See cases [RCV000512260] Chr9:203861..519592 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:635338-685819)x1 copy number loss See cases [RCV000512222] Chr9:635338..685819 [GRCh37]
Chr9:9p24.3
conflicting data from submitters
GRCh37/hg19 9p24.3-24.1(chr9:203861-5081516)x1 copy number loss See cases [RCV000512311] Chr9:203861..5081516 [GRCh37]
Chr9:9p24.3-24.1
pathogenic
GRCh37/hg19 9p24.3(chr9:525750-813180)x4 copy number gain See cases [RCV000512330] Chr9:525750..813180 [GRCh37]
Chr9:9p24.3
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(chr9:637963-1138636)x3 copy number gain See cases [RCV000512377] Chr9:637963..1138636 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3(chr9:507002-568398)x1 copy number loss See cases [RCV000512386] Chr9:507002..568398 [GRCh37]
Chr9:9p24.3
uncertain significance
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(chr9:273651-665516)x3 copy number gain See cases [RCV000512572] Chr9:273651..665516 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:495124-728789)x3 copy number gain See cases [RCV000512589] Chr9:495124..728789 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3994C>T (p.Pro1332Ser) single nucleotide variant not provided [RCV003825305] Chr9:744587 [GRCh38]
Chr9:744587 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.260C>A (p.Thr87Asn) single nucleotide variant not provided [RCV000659113] Chr9:711026 [GRCh38]
Chr9:711026 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1697T>C (p.Met566Thr) single nucleotide variant not provided [RCV000659114] Chr9:712463 [GRCh38]
Chr9:712463 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:735509-1270931)x3 copy number gain not provided [RCV000683128] Chr9:735509..1270931 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:512066-539674)x1 copy number loss not provided [RCV000683047] Chr9:512066..539674 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:245616-479740)x3 copy number gain not provided [RCV000683102] Chr9:245616..479740 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:608702-694567)x1 copy number loss not provided [RCV000683067] Chr9:608702..694567 [GRCh37]
Chr9:9p24.3
uncertain significance
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(chr9:203861-516638)x4 copy number gain not provided [RCV000683110] Chr9:203861..516638 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-525036)x1 copy number loss not provided [RCV000683112] Chr9:203861..525036 [GRCh37]
Chr9:9p24.3
likely pathogenic
GRCh37/hg19 9p24.3(chr9:314208-559164)x3 copy number gain not provided [RCV000683105] Chr9:314208..559164 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:525953-813198)x3 copy number gain not provided [RCV000683107] Chr9:525953..813198 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:294253-685819)x3 copy number gain not provided [RCV000683119] Chr9:294253..685819 [GRCh37]
Chr9:9p24.3
uncertain significance
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(chr9:608594-705931)x1 copy number loss not provided [RCV000683072] Chr9:608594..705931 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:242083-567615)x3 copy number gain not provided [RCV000683113] Chr9:242083..567615 [GRCh37]
Chr9:9p24.3
uncertain significance
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(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23
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 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-635302)x3 copy number gain not provided [RCV000683120] Chr9:203861..635302 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:322794-518499)x3 copy number gain not provided [RCV000683091] Chr9:322794..518499 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:416417-622360)x3 copy number gain not provided [RCV000683094] Chr9:416417..622360 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-4959039)x1 copy number loss not provided [RCV000683159] Chr9:203861..4959039 [GRCh37]
Chr9:9p24.3-24.1
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-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-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
NM_015158.5(KANK1):c.2686G>C (p.Gly896Arg) single nucleotide variant Inborn genetic diseases [RCV002569066]|not provided [RCV001573393] Chr9:713452 [GRCh38]
Chr9:713452 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
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-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 9p24.3-24.1(chr9:46587-5486856)x1 copy number loss not provided [RCV000748059] Chr9:46587..5486856 [GRCh37]
Chr9:9p24.3-24.1
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 9p24.3(chr9:326767-601493)x3 copy number gain not provided [RCV000748080] Chr9:326767..601493 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:564373-637031)x1 copy number loss not provided [RCV000748083] Chr9:564373..637031 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:581646-602986)x1 copy number loss not provided [RCV000748084] Chr9:581646..602986 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:641609-647785)x1 copy number loss not provided [RCV000748085] Chr9:641609..647785 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:643453-647862)x1 copy number loss not provided [RCV000748086] Chr9:643453..647862 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2825C>A (p.Ala942Asp) single nucleotide variant KANK1-related condition [RCV003926198]|not provided [RCV000963227] Chr9:730177 [GRCh38]
Chr9:730177 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.38-174del deletion not provided [RCV001691110] Chr9:710630 [GRCh38]
Chr9:710630 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.-83-319T>C single nucleotide variant not provided [RCV001691354] Chr9:676571 [GRCh38]
Chr9:676571 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2699-79G>A single nucleotide variant not provided [RCV001681483] Chr9:729972 [GRCh38]
Chr9:729972 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.37+80G>A single nucleotide variant not provided [RCV001647946] Chr9:677089 [GRCh38]
Chr9:677089 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3554-11_3554-5del deletion not provided [RCV001681221] Chr9:740770..740776 [GRCh38]
Chr9:740770..740776 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2896+90T>C single nucleotide variant not provided [RCV001665782] Chr9:730338 [GRCh38]
Chr9:730338 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.-83-321C>T single nucleotide variant not provided [RCV001666254] Chr9:676569 [GRCh38]
Chr9:676569 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.978G>A (p.Ala326=) single nucleotide variant not provided [RCV000982441] Chr9:711744 [GRCh38]
Chr9:711744 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2091C>T (p.Asn697=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002479075]|KANK1-related condition [RCV003942875]|not provided [RCV000926599] Chr9:712857 [GRCh38]
Chr9:712857 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.206C>T (p.Pro69Leu) single nucleotide variant not provided [RCV000883274]|not specified [RCV001729731] Chr9:710972 [GRCh38]
Chr9:710972 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.2064G>A (p.Thr688=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002495569]|not provided [RCV000928090] Chr9:712830 [GRCh38]
Chr9:712830 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3554-4dup duplication not provided [RCV000883880] Chr9:740787..740788 [GRCh38]
Chr9:740787..740788 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.804C>T (p.Ala268=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002507550]|not provided [RCV000879626] Chr9:711570 [GRCh38]
Chr9:711570 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.3553+5G>A single nucleotide variant not provided [RCV000947148] Chr9:738509 [GRCh38]
Chr9:738509 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3834= (p.Gly1278=) variation not provided [RCV000950173] Chr9:742342 [GRCh38]
Chr9:742342 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2202G>T (p.Arg734=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002479122]|KANK1-related condition [RCV003897947]|not provided [RCV000966208] Chr9:712968 [GRCh38]
Chr9:712968 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3609G>A (p.Ala1203=) single nucleotide variant KANK1-related condition [RCV003936118]|not provided [RCV000971328] Chr9:740847 [GRCh38]
Chr9:740847 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.561T>C (p.Phe187=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002487977]|not provided [RCV000906515] Chr9:711327 [GRCh38]
Chr9:711327 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1377G>A (p.Gln459=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002501365]|not provided [RCV000879627] Chr9:712143 [GRCh38]
Chr9:712143 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.3696+4A>G single nucleotide variant not provided [RCV000967112] Chr9:740938 [GRCh38]
Chr9:740938 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.3878A>G (p.Asn1293Ser) single nucleotide variant KANK1-related condition [RCV003916269]|not provided [RCV000969038] Chr9:742386 [GRCh38]
Chr9:742386 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1263C>T (p.Ser421=) single nucleotide variant not provided [RCV000981498] Chr9:712029 [GRCh38]
Chr9:712029 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1011G>A (p.Arg337=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002505365]|not provided [RCV000921207] Chr9:711777 [GRCh38]
Chr9:711777 [GRCh37]
Chr9:9p24.3
likely benign
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-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_015158.5(KANK1):c.346A>G (p.Thr116Ala) single nucleotide variant not provided [RCV000965091] Chr9:711112 [GRCh38]
Chr9:711112 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.2662C>G (p.Pro888Ala) single nucleotide variant not provided [RCV000919328] Chr9:713428 [GRCh38]
Chr9:713428 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.593C>T (p.Ser198Phe) single nucleotide variant not provided [RCV000963920] Chr9:711359 [GRCh38]
Chr9:711359 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.1517T>C (p.Met506Thr) single nucleotide variant not provided [RCV000879628] Chr9:712283 [GRCh38]
Chr9:712283 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3647T>C (p.Ile1216Thr) single nucleotide variant not provided [RCV000969554] Chr9:740885 [GRCh38]
Chr9:740885 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.624C>G (p.Ala208=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002502715]|not provided [RCV000908478] Chr9:711390 [GRCh38]
Chr9:711390 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.783G>A (p.Gln261=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002501494]|KANK1-related condition [RCV003958012]|not provided [RCV000894556] Chr9:711549 [GRCh38]
Chr9:711549 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.564A>G (p.Gly188=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002505359]|not provided [RCV000918285] Chr9:711330 [GRCh38]
Chr9:711330 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.195G>A (p.Lys65=) single nucleotide variant not provided [RCV000982429] Chr9:710961 [GRCh38]
Chr9:710961 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3772G>T (p.Ala1258Ser) single nucleotide variant KANK1-related condition [RCV003935966]|Rare genetic intellectual disability [RCV001257027]|not provided [RCV000963228] Chr9:742280 [GRCh38]
Chr9:742280 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
NM_015158.5(KANK1):c.2847G>A (p.Thr949=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002501408]|not provided [RCV000884449] Chr9:730199 [GRCh38]
Chr9:730199 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2113A>G (p.Lys705Glu) single nucleotide variant KANK1-related condition [RCV003895651]|not provided [RCV000929059] Chr9:712879 [GRCh38]
Chr9:712879 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1491G>A (p.Ser497=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002495396]|not provided [RCV000891833] Chr9:712257 [GRCh38]
Chr9:712257 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3493G>A (p.Ala1165Thr) single nucleotide variant Inborn genetic diseases [RCV003290158] Chr9:738444 [GRCh38]
Chr9:738444 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1190A>G (p.Glu397Gly) single nucleotide variant Inborn genetic diseases [RCV003248745] Chr9:711956 [GRCh38]
Chr9:711956 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:374830-489338)x1 copy number loss not provided [RCV001006177] Chr9:374830..489338 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:608682-705168)x1 copy number loss not provided [RCV000848286] Chr9:608682..705168 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:322793-518499)x3 copy number gain not provided [RCV000849501] Chr9:322793..518499 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-1539085)x1 copy number loss not provided [RCV000848099] Chr9:203861..1539085 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:525290-813180)x3 copy number gain not provided [RCV000848105] Chr9:525290..813180 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-573614)x3 copy number gain not provided [RCV000849538] Chr9:203861..573614 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:203861-2978707)x1 copy number loss not provided [RCV000849761] Chr9:203861..2978707 [GRCh37]
Chr9:9p24.3-24.2
pathogenic
GRCh37/hg19 9p24.3(chr9:203861-1670196)x3 copy number gain not provided [RCV000846065] Chr9:203861..1670196 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:608682-694567)x1 copy number loss not provided [RCV000847330] Chr9:608682..694567 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:525750-813180)x3 copy number gain not provided [RCV000847485] Chr9:525750..813180 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:516412-548426)x1 copy number loss not provided [RCV000848622] Chr9:516412..548426 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-573614)x3 copy number gain not provided [RCV000846466] Chr9:203861..573614 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-521085)x3 copy number gain not provided [RCV000845978] Chr9:203861..521085 [GRCh37]
Chr9:9p24.3
uncertain significance
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(chr9:314208-518499)x3 copy number gain not provided [RCV000847126] Chr9:314208..518499 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:403844-565917)x3 copy number gain not provided [RCV000847489] Chr9:403844..565917 [GRCh37]
Chr9:9p24.3
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787444] Chr9:611517..690998 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1991C>T (p.Ala664Val) single nucleotide variant not provided [RCV000896841] Chr9:712757 [GRCh38]
Chr9:712757 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:203861-584635)x3 copy number gain not provided [RCV001006158] Chr9:203861..584635 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:694452-1413398)x3 copy number gain not provided [RCV001006181] Chr9:694452..1413398 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:439101-552093)x3 copy number gain not provided [RCV000847606] Chr9:439101..552093 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:488090-516638)x1 copy number loss not provided [RCV000847685] Chr9:488090..516638 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:309052-518499)x3 copy number gain not provided [RCV000848230] Chr9:309052..518499 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:611151-705528)x1 copy number loss not provided [RCV000848324] Chr9:611151..705528 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:608645-694567)x1 copy number loss not provided [RCV000848372] Chr9:608645..694567 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-561925)x3 copy number gain not provided [RCV000848898] Chr9:203861..561925 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:608682-694567)x1 copy number loss not provided [RCV000848398] Chr9:608682..694567 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:292083-534474)x3 copy number gain not provided [RCV000848426] Chr9:292083..534474 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:379523-742934)x3 copy number gain not provided [RCV000849897] Chr9:379523..742934 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:584086-706265)x3 copy number gain not provided [RCV000847370] Chr9:584086..706265 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-518499)x3 copy number gain not provided [RCV000849515] Chr9:203861..518499 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:661094-689472)x1 copy number loss not provided [RCV000847614] Chr9:661094..689472 [GRCh37]
Chr9:9p24.3
uncertain significance
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 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3(chr9:438194-492354)x3 copy number gain not provided [RCV000845679] Chr9:438194..492354 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-1288574)x3 copy number gain not provided [RCV001006160] Chr9:203861..1288574 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:277844-1337835)x3 copy number gain not provided [RCV001006170] Chr9:277844..1337835 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:445993-622360)x3 copy number gain not provided [RCV000846831] Chr9:445993..622360 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:480919-706265)x1 copy number loss not provided [RCV000846854] Chr9:480919..706265 [GRCh37]
Chr9:9p24.3
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(chr9:404371-613317)x3 copy number gain not provided [RCV000846124] Chr9:404371..613317 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:512066-579753)x1 copy number loss not provided [RCV000847411] Chr9:512066..579753 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:517445-633581)x3 copy number gain not provided [RCV000846271] Chr9:517445..633581 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:340919-535318)x3 copy number gain not provided [RCV000847634] Chr9:340919..535318 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:445993-622360)x3 copy number gain not provided [RCV000845950] Chr9:445993..622360 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2258C>G (p.Ala753Gly) single nucleotide variant Inborn genetic diseases [RCV003249556] Chr9:713024 [GRCh38]
Chr9:713024 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1233C>A (p.Asp411Glu) single nucleotide variant Inborn genetic diseases [RCV003293178] Chr9:711999 [GRCh38]
Chr9:711999 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:314208-518538)x3 copy number gain not provided [RCV001006174] Chr9:314208..518538 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:364035-646644)x3 copy number gain not provided [RCV001006176] Chr9:364035..646644 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:341088-539781)x3 copy number gain not provided [RCV001006175] Chr9:341088..539781 [GRCh37]
Chr9:9p24.3
likely pathogenic
NM_015158.5(KANK1):c.3577A>C (p.Asn1193His) single nucleotide variant Inborn genetic diseases [RCV003275423] Chr9:740815 [GRCh38]
Chr9:740815 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3897+237T>G single nucleotide variant not provided [RCV001708504] Chr9:742642 [GRCh38]
Chr9:742642 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3334-230T>C single nucleotide variant not provided [RCV001655310] Chr9:738055 [GRCh38]
Chr9:738055 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.*54C>T single nucleotide variant not provided [RCV001679333] Chr9:745289 [GRCh38]
Chr9:745289 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2896+212G>A single nucleotide variant not provided [RCV001660957] Chr9:730460 [GRCh38]
Chr9:730460 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3246-103G>A single nucleotide variant not provided [RCV001534753] Chr9:734645 [GRCh38]
Chr9:734645 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2896+225T>G single nucleotide variant not provided [RCV001638386] Chr9:730473 [GRCh38]
Chr9:730473 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.-83-145A>G single nucleotide variant not provided [RCV001674215] Chr9:676745 [GRCh38]
Chr9:676745 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2698+112A>T single nucleotide variant not provided [RCV001611331] Chr9:713576 [GRCh38]
Chr9:713576 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3246-69G>T single nucleotide variant not provided [RCV001674423] Chr9:734679 [GRCh38]
Chr9:734679 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.-19T>C single nucleotide variant not provided [RCV001639749] Chr9:676954 [GRCh38]
Chr9:676954 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.-83-149A>G single nucleotide variant not provided [RCV001693255] Chr9:676741 [GRCh38]
Chr9:676741 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3696+314del deletion not provided [RCV001674678] Chr9:741248 [GRCh38]
Chr9:741248 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3696+150C>T single nucleotide variant not provided [RCV001677002] Chr9:741084 [GRCh38]
Chr9:741084 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.38-164_38-162del deletion not provided [RCV001715042] Chr9:710638..710640 [GRCh38]
Chr9:710638..710640 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3245+275G>C single nucleotide variant not provided [RCV001620980] Chr9:732892 [GRCh38]
Chr9:732892 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3554-31C>G single nucleotide variant not provided [RCV001541756] Chr9:740761 [GRCh38]
Chr9:740761 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.1600G>A (p.Val534Met) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002501423]|KANK1-related condition [RCV003975583]|not provided [RCV000886683] Chr9:712366 [GRCh38]
Chr9:712366 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2268C>T (p.Thr756=) single nucleotide variant not provided [RCV000931772] Chr9:713034 [GRCh38]
Chr9:713034 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3477C>T (p.Asp1159=) single nucleotide variant not provided [RCV000909269] Chr9:738428 [GRCh38]
Chr9:738428 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.2373A>C (p.Thr791=) single nucleotide variant not provided [RCV000932675] Chr9:713139 [GRCh38]
Chr9:713139 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.4023G>A (p.Thr1341=) single nucleotide variant KANK1-related condition [RCV003950610]|not provided [RCV000903476] Chr9:745199 [GRCh38]
Chr9:745199 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1533T>C (p.Val511=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002503015]|KANK1-related condition [RCV003905864]|not provided [RCV000963921] Chr9:712299 [GRCh38]
Chr9:712299 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3105GGA[6] (p.Glu1039dup) microsatellite KANK1-related condition [RCV003918547]|not provided [RCV000974242] Chr9:732474..732475 [GRCh38]
Chr9:732474..732475 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3354C>G (p.Leu1118=) single nucleotide variant not provided [RCV000897911] Chr9:738305 [GRCh38]
Chr9:738305 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2556C>T (p.Phe852=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002489343]|not provided [RCV000959683] Chr9:713322 [GRCh38]
Chr9:713322 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2646T>G (p.Thr882=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002502854]|not provided [RCV000932928] Chr9:713412 [GRCh38]
Chr9:713412 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.1988T>C (p.Met663Thr) single nucleotide variant KANK1-related condition [RCV003958256]|not provided [RCV000907551] Chr9:712754 [GRCh38]
Chr9:712754 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1608G>A (p.Thr536=) single nucleotide variant not provided [RCV000933415] Chr9:712374 [GRCh38]
Chr9:712374 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.906C>G (p.Val302=) single nucleotide variant not provided [RCV000910896] Chr9:711672 [GRCh38]
Chr9:711672 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3372C>T (p.Arg1124=) single nucleotide variant not provided [RCV000969230] Chr9:738323 [GRCh38]
Chr9:738323 [GRCh37]
Chr9:9p24.3
benign|likely benign
GRCh37/hg19 9p24.3(chr9:203861-567615)x1 copy number loss not provided [RCV001006161] Chr9:203861..567615 [GRCh37]
Chr9:9p24.3
pathogenic
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 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23
pathogenic
NM_015158.5(KANK1):c.3333+4A>C single nucleotide variant not provided [RCV000956690] Chr9:734839 [GRCh38]
Chr9:734839 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2544G>C (p.Leu848=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002495393]|KANK1-related condition [RCV003920757]|not provided [RCV000891062] Chr9:713310 [GRCh38]
Chr9:713310 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3870C>T (p.Pro1290=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002495380]|not provided [RCV000889203] Chr9:742378 [GRCh38]
Chr9:742378 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.267T>A (p.Thr89=) single nucleotide variant not provided [RCV000999116] Chr9:711033 [GRCh38]
Chr9:711033 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2077G>A (p.Glu693Lys) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002505525]|Inborn genetic diseases [RCV002549118]|not provided [RCV000999117] Chr9:712843 [GRCh38]
Chr9:712843 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3912G>A (p.Ala1304=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002505268]|not provided [RCV000889755] Chr9:744505 [GRCh38]
Chr9:744505 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.3898-267del deletion not provided [RCV001595671] Chr9:744223 [GRCh38]
Chr9:744223 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3245+162A>G single nucleotide variant not provided [RCV001643584] Chr9:732779 [GRCh38]
Chr9:732779 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3696+83A>G single nucleotide variant not provided [RCV001658486] Chr9:741017 [GRCh38]
Chr9:741017 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:304669-685819)x3 copy number gain not provided [RCV002473728] Chr9:304669..685819 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3696+290C>G single nucleotide variant not provided [RCV001636372] Chr9:741224 [GRCh38]
Chr9:741224 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.38-174_38-164del deletion not provided [RCV001636551] Chr9:710630..710640 [GRCh38]
Chr9:710630..710640 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.38-174C>A single nucleotide variant not provided [RCV001608664] Chr9:710630 [GRCh38]
Chr9:710630 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2699-83A>C single nucleotide variant not provided [RCV001696049] Chr9:729968 [GRCh38]
Chr9:729968 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.-83-198T>C single nucleotide variant not provided [RCV001597442] Chr9:676692 [GRCh38]
Chr9:676692 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3246-73dup duplication not provided [RCV001656148] Chr9:734665..734666 [GRCh38]
Chr9:734665..734666 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:291867-733212)x3 copy number gain not provided [RCV001006171] Chr9:291867..733212 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3898-246dup duplication not provided [RCV001616440] Chr9:744242..744243 [GRCh38]
Chr9:744242..744243 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.38-164_38-163del deletion not provided [RCV001714887] Chr9:710639..710640 [GRCh38]
Chr9:710639..710640 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.*178A>G single nucleotide variant not provided [RCV001694788] Chr9:745413 [GRCh38]
Chr9:745413 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3898-73T>C single nucleotide variant not provided [RCV001722706] Chr9:744418 [GRCh38]
Chr9:744418 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3245+87T>A single nucleotide variant not provided [RCV001671378] Chr9:732704 [GRCh38]
Chr9:732704 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3333+254G>A single nucleotide variant not provided [RCV001722754] Chr9:735089 [GRCh38]
Chr9:735089 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.-83-53_-83-52insG insertion not provided [RCV001614141] Chr9:676837..676838 [GRCh38]
Chr9:676837..676838 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.38-164C>A single nucleotide variant not provided [RCV001651922] Chr9:710640 [GRCh38]
Chr9:710640 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3696+127C>T single nucleotide variant not provided [RCV001682060] Chr9:741061 [GRCh38]
Chr9:741061 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.37+132A>G single nucleotide variant not provided [RCV001666851] Chr9:677141 [GRCh38]
Chr9:677141 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.38-174_38-163del deletion not provided [RCV001693512] Chr9:710629..710640 [GRCh38]
Chr9:710629..710640 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3245+283T>C single nucleotide variant not provided [RCV001710714] Chr9:732900 [GRCh38]
Chr9:732900 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2698+304T>A single nucleotide variant not provided [RCV001649399] Chr9:713768 [GRCh38]
Chr9:713768 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3554-200G>C single nucleotide variant not provided [RCV001613634] Chr9:740592 [GRCh38]
Chr9:740592 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3696+253T>C single nucleotide variant not provided [RCV001679413] Chr9:741187 [GRCh38]
Chr9:741187 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3245+113C>G single nucleotide variant not provided [RCV001649515] Chr9:732730 [GRCh38]
Chr9:732730 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3006-76T>C single nucleotide variant not provided [RCV001666707] Chr9:732302 [GRCh38]
Chr9:732302 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3005+66A>G single nucleotide variant not provided [RCV001645604] Chr9:731332 [GRCh38]
Chr9:731332 [GRCh37]
Chr9:9p24.3
benign
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
NM_015158.5(KANK1):c.3554-9_3554-5del deletion Cerebral palsy, spastic quadriplegic, 2 [RCV001198689] Chr9:740770..740774 [GRCh38]
Chr9:740770..740774 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2367G>A (p.Gly789=) single nucleotide variant not provided [RCV001200493] Chr9:713133 [GRCh38]
Chr9:713133 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3(chr9:294253-711112)x3 copy number gain not provided [RCV001006172] Chr9:294253..711112 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:294253-534474)x3 copy number gain not provided [RCV001006173] Chr9:294253..534474 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:460071-740681)x3 copy number gain not provided [RCV001006178] Chr9:460071..740681 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:468704-579753)x1 copy number loss not provided [RCV001006179] Chr9:468704..579753 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:500120-556856)x1 copy number loss not provided [RCV001006180] Chr9:500120..556856 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:423689-1096481)x3 copy number gain not provided [RCV001258431] Chr9:423689..1096481 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-499996)x1 copy number loss not provided [RCV001260087] Chr9:203861..499996 [GRCh37]
Chr9:9p24.3
pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:204090-2430905)x1 copy number loss See cases [RCV001263053] Chr9:204090..2430905 [GRCh37]
Chr9:9p24.3-24.2
pathogenic
GRCh37/hg19 9p24.3(chr9:382183-734215)x4 copy number gain not provided [RCV001258437] Chr9:382183..734215 [GRCh37]
Chr9:9p24.3
uncertain significance
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(chr9:353220-714935)x3 copy number gain not provided [RCV001258435] Chr9:353220..714935 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:204053-695537)x1 copy number loss not provided [RCV001270670] Chr9:204053..695537 [GRCh37]
Chr9:9p24.3
uncertain significance
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
NM_015158.5(KANK1):c.511A>G (p.Thr171Ala) single nucleotide variant Rare genetic intellectual disability [RCV001257026]|not provided [RCV003727959] Chr9:711277 [GRCh38]
Chr9:711277 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:518537-672786)x4 copy number gain not provided [RCV001258433] Chr9:518537..672786 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1086G>C (p.Gln362His) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV001328857]|not provided [RCV002546280] Chr9:711852 [GRCh38]
Chr9:711852 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3709del (p.Ala1237fs) deletion Cerebral palsy, spastic quadriplegic, 2 [RCV001336250]|not provided [RCV003727986] Chr9:742216 [GRCh38]
Chr9:742216 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1
pathogenic
NM_015158.5(KANK1):c.2020A>G (p.Ser674Gly) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV001336248] Chr9:712786 [GRCh38]
Chr9:712786 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3182C>T (p.Ala1061Val) single nucleotide variant not provided [RCV001322602] Chr9:732554 [GRCh38]
Chr9:732554 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1173G>T (p.Glu391Asp) single nucleotide variant not provided [RCV001356721] Chr9:711939 [GRCh38]
Chr9:711939 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2683C>A (p.Leu895Met) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV001336249]|not provided [RCV002547352] Chr9:713449 [GRCh38]
Chr9:713449 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1901C>G (p.Ser634Cys) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV001354202] Chr9:712667 [GRCh38]
Chr9:712667 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.630C>G (p.His210Gln) single nucleotide variant not provided [RCV001518500] Chr9:711396 [GRCh38]
Chr9:711396 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.1300A>C (p.Arg434=) single nucleotide variant not provided [RCV001518501] Chr9:712066 [GRCh38]
Chr9:712066 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3834A>G (p.Gly1278=) single nucleotide variant not provided [RCV001522546] Chr9:742342 [GRCh38]
Chr9:742342 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.1371G>C (p.Leu457=) single nucleotide variant not provided [RCV001520477] Chr9:712137 [GRCh38]
Chr9:712137 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.1390T>G (p.Ser464Ala) single nucleotide variant not provided [RCV001520478] Chr9:712156 [GRCh38]
Chr9:712156 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2702A>G (p.Asn901Ser) single nucleotide variant not provided [RCV001518502] Chr9:730054 [GRCh38]
Chr9:730054 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3663C>T (p.Phe1221=) single nucleotide variant not provided [RCV001518503] Chr9:740901 [GRCh38]
Chr9:740901 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3483C>T (p.Asn1161=) single nucleotide variant not provided [RCV001514493] Chr9:738434 [GRCh38]
Chr9:738434 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3245+12T>C single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002495819]|not provided [RCV001518923] Chr9:732629 [GRCh38]
Chr9:732629 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.2896+242G>A single nucleotide variant not provided [RCV001540852] Chr9:730490 [GRCh38]
Chr9:730490 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.38-164del deletion not provided [RCV001698538] Chr9:710640 [GRCh38]
Chr9:710640 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3554-320G>A single nucleotide variant not provided [RCV001694963] Chr9:740472 [GRCh38]
Chr9:740472 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.1294G>C (p.Glu432Gln) single nucleotide variant not provided [RCV001515159] Chr9:712060 [GRCh38]
Chr9:712060 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.1833C>T (p.Asn611=) single nucleotide variant not provided [RCV001515160] Chr9:712599 [GRCh38]
Chr9:712599 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2699-293G>A single nucleotide variant not provided [RCV001648824] Chr9:729758 [GRCh38]
Chr9:729758 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3997-135T>A single nucleotide variant not provided [RCV001671165] Chr9:745038 [GRCh38]
Chr9:745038 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.-83-186T>C single nucleotide variant not provided [RCV001645824] Chr9:676704 [GRCh38]
Chr9:676704 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.1908C>T (p.Asp636=) single nucleotide variant not provided [RCV001510560] Chr9:712674 [GRCh38]
Chr9:712674 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3006-159C>G single nucleotide variant not provided [RCV001693834] Chr9:732219 [GRCh38]
Chr9:732219 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3696+38G>C single nucleotide variant not provided [RCV001539155] Chr9:740972 [GRCh38]
Chr9:740972 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3996+148G>A single nucleotide variant not provided [RCV001667477] Chr9:744737 [GRCh38]
Chr9:744737 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3334-47G>A single nucleotide variant not provided [RCV001651963] Chr9:738238 [GRCh38]
Chr9:738238 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2897-341G>A single nucleotide variant not provided [RCV001651964] Chr9:730817 [GRCh38]
Chr9:730817 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3006-162C>T single nucleotide variant not provided [RCV001647824] Chr9:732216 [GRCh38]
Chr9:732216 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3696+67T>C single nucleotide variant not provided [RCV001670631] Chr9:741001 [GRCh38]
Chr9:741001 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.-83-70A>G single nucleotide variant not provided [RCV001674275] Chr9:676820 [GRCh38]
Chr9:676820 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2699-85_2699-84del deletion not provided [RCV001708620] Chr9:729966..729967 [GRCh38]
Chr9:729966..729967 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3696+107T>G single nucleotide variant not provided [RCV001710472] Chr9:741041 [GRCh38]
Chr9:741041 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3005+154G>T single nucleotide variant not provided [RCV001619059] Chr9:731420 [GRCh38]
Chr9:731420 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3006-323G>A single nucleotide variant not provided [RCV001530794] Chr9:732055 [GRCh38]
Chr9:732055 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.200G>A (p.Arg67Gln) single nucleotide variant not provided [RCV001518499] Chr9:710966 [GRCh38]
Chr9:710966 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3333+19C>G single nucleotide variant not provided [RCV001522749] Chr9:734854 [GRCh38]
Chr9:734854 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3997-17C>G single nucleotide variant not provided [RCV001523247] Chr9:745156 [GRCh38]
Chr9:745156 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.1357A>G (p.Lys453Glu) single nucleotide variant Inborn genetic diseases [RCV002560366]|KANK1-related condition [RCV003908689]|not provided [RCV001461260] Chr9:712123 [GRCh38]
Chr9:712123 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
NM_015158.5(KANK1):c.2000G>A (p.Arg667His) single nucleotide variant not provided [RCV001514490] Chr9:712766 [GRCh38]
Chr9:712766 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2541A>G (p.Glu847=) single nucleotide variant not provided [RCV001514491] Chr9:713307 [GRCh38]
Chr9:713307 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3164T>C (p.Ile1055Thr) single nucleotide variant not provided [RCV001514492] Chr9:732536 [GRCh38]
Chr9:732536 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3996G>A (p.Pro1332=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002488489]|not provided [RCV001730292] Chr9:744589 [GRCh38]
Chr9:744589 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:525954-813180)x3 copy number gain not provided [RCV001834216] Chr9:525954..813180 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3697-86C>T single nucleotide variant not provided [RCV001759144] Chr9:742119 [GRCh38]
Chr9:742119 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3554-5del deletion not provided [RCV001769526] Chr9:740770 [GRCh38]
Chr9:740770 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.37+202C>G single nucleotide variant not provided [RCV001774995] Chr9:677211 [GRCh38]
Chr9:677211 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3246-126T>C single nucleotide variant not provided [RCV001769547] Chr9:734622 [GRCh38]
Chr9:734622 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3643C>T (p.Arg1215Trp) single nucleotide variant not provided [RCV003104529] Chr9:740881 [GRCh38]
Chr9:740881 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3246-133A>G single nucleotide variant not provided [RCV001769545] Chr9:734615 [GRCh38]
Chr9:734615 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3553+133A>G single nucleotide variant not provided [RCV001767978] Chr9:738637 [GRCh38]
Chr9:738637 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3996+34C>T single nucleotide variant not provided [RCV001769645] Chr9:744623 [GRCh38]
Chr9:744623 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2896+89T>C single nucleotide variant not provided [RCV001759180] Chr9:730337 [GRCh38]
Chr9:730337 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3334-35A>G single nucleotide variant not provided [RCV001759244] Chr9:738250 [GRCh38]
Chr9:738250 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.*195G>A single nucleotide variant not provided [RCV001759251] Chr9:745430 [GRCh38]
Chr9:745430 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3897+84G>C single nucleotide variant not provided [RCV001759245] Chr9:742489 [GRCh38]
Chr9:742489 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3005+83C>T single nucleotide variant not provided [RCV001759375] Chr9:731349 [GRCh38]
Chr9:731349 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.52A>G (p.Ile18Val) single nucleotide variant not provided [RCV001768168] Chr9:710818 [GRCh38]
Chr9:710818 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.38-151C>T single nucleotide variant not provided [RCV001767994] Chr9:710653 [GRCh38]
Chr9:710653 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2615C>G (p.Ser872Cys) single nucleotide variant KANK1-related condition [RCV003956346]|not provided [RCV002077180]|not specified [RCV001733667] Chr9:713381 [GRCh38]
Chr9:713381 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.-83-244A>G single nucleotide variant not provided [RCV001768002] Chr9:676646 [GRCh38]
Chr9:676646 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3213dup (p.Cys1072fs) duplication Cerebral palsy, spastic quadriplegic, 2 [RCV002478046]|not specified [RCV001815138] Chr9:732583..732584 [GRCh38]
Chr9:732583..732584 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1216G>A (p.Glu406Lys) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002486618]|Inborn genetic diseases [RCV002642082]|not provided [RCV002040165] Chr9:711982 [GRCh38]
Chr9:711982 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1870G>C (p.Glu624Gln) single nucleotide variant Inborn genetic diseases [RCV002557669]|not provided [RCV001928199] Chr9:712636 [GRCh38]
Chr9:712636 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2198C>T (p.Thr733Met) single nucleotide variant not provided [RCV002025953] Chr9:712964 [GRCh38]
Chr9:712964 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002490250]|not provided [RCV001910104] Chr9:738477 [GRCh38]
Chr9:738477 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2951A>T (p.Asn984Ile) single nucleotide variant Inborn genetic diseases [RCV002562009]|not provided [RCV001967336] Chr9:731212 [GRCh38]
Chr9:731212 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.424C>T (p.Pro142Ser) single nucleotide variant not provided [RCV001968709] Chr9:711190 [GRCh38]
Chr9:711190 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2342G>C (p.Cys781Ser) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002506884]|Inborn genetic diseases [RCV002545770]|not provided [RCV001863551] Chr9:713108 [GRCh38]
Chr9:713108 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3350C>T (p.Thr1117Ile) single nucleotide variant not provided [RCV001915568] Chr9:738301 [GRCh38]
Chr9:738301 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:322795-622360)x3 copy number gain not provided [RCV001827641] Chr9:322795..622360 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3991T>C (p.Ser1331Pro) single nucleotide variant not provided [RCV001929404] Chr9:744584 [GRCh38]
Chr9:744584 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2765C>T (p.Thr922Ile) single nucleotide variant not provided [RCV001864503] Chr9:730117 [GRCh38]
Chr9:730117 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:314208-915632)x3 copy number gain not provided [RCV001827919] Chr9:314208..915632 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1663T>C (p.Cys555Arg) single nucleotide variant not provided [RCV002043375] Chr9:712429 [GRCh38]
Chr9:712429 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1961C>A (p.Ala654Asp) single nucleotide variant Inborn genetic diseases [RCV002560590]|KANK1-related condition [RCV003923372]|not provided [RCV001948232] Chr9:712727 [GRCh38]
Chr9:712727 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
GRCh37/hg19 9p24.3(chr9:336088-980057)x3 copy number gain not provided [RCV001827918] Chr9:336088..980057 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.873C>G (p.Ile291Met) single nucleotide variant not provided [RCV002025085] Chr9:711639 [GRCh38]
Chr9:711639 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152) copy number loss not specified [RCV002053808] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1
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 9p24.3-22.3(chr9:203861-14694074) copy number loss not specified [RCV002053815] Chr9:203861..14694074 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3(chr9:453134-820485)x3 copy number gain not provided [RCV001834244] Chr9:453134..820485 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:369763-489338)x3 copy number gain not provided [RCV001834395] Chr9:369763..489338 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3634_3636del (p.Lys1212del) deletion Cerebral palsy, spastic quadriplegic, 2 [RCV002492104]|not provided [RCV002004788] Chr9:740870..740872 [GRCh38]
Chr9:740870..740872 [GRCh37]
Chr9:9p24.3
uncertain significance
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
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 9p24.3-22.3(chr9:203861-15211277) copy number loss not specified [RCV002053816] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) copy number loss not specified [RCV002053817] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-24.2(chr9:203861-3226591) copy number loss not specified [RCV002053806] Chr9:203861..3226591 [GRCh37]
Chr9:9p24.3-24.2
pathogenic
NM_015158.5(KANK1):c.2059G>T (p.Glu687Ter) single nucleotide variant not provided [RCV002043192] Chr9:712825 [GRCh38]
Chr9:712825 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3454C>T (p.Arg1152Cys) single nucleotide variant not provided [RCV001945249] Chr9:738405 [GRCh38]
Chr9:738405 [GRCh37]
Chr9:9p24.3
uncertain significance
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-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32
pathogenic
NM_015158.5(KANK1):c.1218G>A (p.Glu406=) single nucleotide variant not provided [RCV001911543] Chr9:711984 [GRCh38]
Chr9:711984 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
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
NC_000009.11:g.(?_676973)_(894215_?)dup duplication not provided [RCV001871101] Chr9:676973..894215 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1006T>C (p.Ser336Pro) single nucleotide variant not provided [RCV002022028] Chr9:711772 [GRCh38]
Chr9:711772 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:498269-566624) copy number loss not specified [RCV002053825] Chr9:498269..566624 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3486C>T (p.Gly1162=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002484851]|not provided [RCV001969092] Chr9:738437 [GRCh38]
Chr9:738437 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
NM_015158.5(KANK1):c.1624G>A (p.Val542Met) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002478105]|not provided [RCV002042065] Chr9:712390 [GRCh38]
Chr9:712390 [GRCh37]
Chr9:9p24.3
uncertain significance
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
NM_015158.5(KANK1):c.1658C>G (p.Pro553Arg) single nucleotide variant not provided [RCV002004050] Chr9:712424 [GRCh38]
Chr9:712424 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2018C>G (p.Thr673Ser) single nucleotide variant KANK1-related condition [RCV003911080]|not provided [RCV001893072] Chr9:712784 [GRCh38]
Chr9:712784 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2143C>T (p.Arg715Trp) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002490134]|not provided [RCV001889430] Chr9:712909 [GRCh38]
Chr9:712909 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3757C>T (p.Leu1253Phe) single nucleotide variant not provided [RCV001965823] Chr9:742265 [GRCh38]
Chr9:742265 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3764C>A (p.Ala1255Asp) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002482652]|Inborn genetic diseases [RCV003264178]|not provided [RCV001892578] Chr9:742272 [GRCh38]
Chr9:742272 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3880G>A (p.Gly1294Ser) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002503619]|Inborn genetic diseases [RCV002558462]|not provided [RCV001945712] Chr9:742388 [GRCh38]
Chr9:742388 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:519255-671330)x3 copy number gain not provided [RCV001833023] Chr9:519255..671330 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3105GGA[3] (p.Glu1038_Glu1039del) microsatellite not provided [RCV001907714] Chr9:732475..732480 [GRCh38]
Chr9:732475..732480 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1514C>G (p.Thr505Arg) single nucleotide variant Inborn genetic diseases [RCV003167129]|not provided [RCV001909616] Chr9:712280 [GRCh38]
Chr9:712280 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-24.2(chr9:203861-4342995) copy number gain not specified [RCV002053807] Chr9:203861..4342995 [GRCh37]
Chr9:9p24.3-24.2
uncertain significance
GRCh37/hg19 9p24.3-23(chr9:203861-9631665) copy number loss not specified [RCV002053811] Chr9:203861..9631665 [GRCh37]
Chr9:9p24.3-23
pathogenic
NM_015158.5(KANK1):c.226C>T (p.Pro76Ser) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002490177]|Inborn genetic diseases [RCV002554281]|not provided [RCV001912753] Chr9:710992 [GRCh38]
Chr9:710992 [GRCh37]
Chr9:9p24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015158.5(KANK1):c.2063C>T (p.Thr688Met) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002490107]|Inborn genetic diseases [RCV003164283]|not provided [RCV001895346] Chr9:712829 [GRCh38]
Chr9:712829 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3128C>T (p.Thr1043Ile) single nucleotide variant not provided [RCV001970234] Chr9:732500 [GRCh38]
Chr9:732500 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.683C>G (p.Ala228Gly) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002497841]|not provided [RCV001985334] Chr9:711449 [GRCh38]
Chr9:711449 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1633A>G (p.Asn545Asp) single nucleotide variant not provided [RCV001873026] Chr9:712399 [GRCh38]
Chr9:712399 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3994C>G (p.Pro1332Ala) single nucleotide variant not provided [RCV002044378] Chr9:744587 [GRCh38]
Chr9:744587 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3105GGA[7] (p.Glu1038_Glu1039dup) microsatellite not provided [RCV001893611] Chr9:732474..732475 [GRCh38]
Chr9:732474..732475 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3552C>T (p.Ala1184=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002482799]|KANK1-related condition [RCV003976255]|not provided [RCV001909057] Chr9:738503 [GRCh38]
Chr9:738503 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
NM_015158.5(KANK1):c.2261T>G (p.Val754Gly) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002490207]|not provided [RCV001947604] Chr9:713027 [GRCh38]
Chr9:713027 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.325G>A (p.Ala109Thr) single nucleotide variant not provided [RCV002021324] Chr9:711091 [GRCh38]
Chr9:711091 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-832928)x1 copy number loss not provided [RCV001834412] Chr9:203861..832928 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.433C>T (p.Pro145Ser) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002492286]|Inborn genetic diseases [RCV003250391]|not provided [RCV001986759] Chr9:711199 [GRCh38]
Chr9:711199 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:611150-694567) copy number loss not specified [RCV002053826] Chr9:611150..694567 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2610GTC[1] (p.Ser872del) microsatellite not provided [RCV001926813] Chr9:713376..713378 [GRCh38]
Chr9:713376..713378 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.526C>T (p.Pro176Ser) single nucleotide variant Inborn genetic diseases [RCV002548950]|not provided [RCV002043837] Chr9:711292 [GRCh38]
Chr9:711292 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.790C>T (p.Arg264Cys) single nucleotide variant not provided [RCV002022589] Chr9:711556 [GRCh38]
Chr9:711556 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2186C>G (p.Ser729Cys) single nucleotide variant not provided [RCV001894616] Chr9:712952 [GRCh38]
Chr9:712952 [GRCh37]
Chr9:9p24.3
uncertain significance
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
NM_015158.5(KANK1):c.590CTT[1] (p.Ser198del) microsatellite Cerebral palsy, spastic quadriplegic, 2 [RCV002486753]|not provided [RCV002043589] Chr9:711356..711358 [GRCh38]
Chr9:711356..711358 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.46G>C (p.Gly16Arg) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002484499]|not provided [RCV001947727] Chr9:710812 [GRCh38]
Chr9:710812 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.16A>G (p.Lys6Glu) single nucleotide variant not provided [RCV001983276] Chr9:676988 [GRCh38]
Chr9:676988 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1004T>C (p.Leu335Pro) single nucleotide variant not provided [RCV001891353] Chr9:711770 [GRCh38]
Chr9:711770 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.466A>G (p.Lys156Glu) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002479693]|Inborn genetic diseases [RCV003170428]|not provided [RCV001983558] Chr9:711232 [GRCh38]
Chr9:711232 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1607C>T (p.Thr536Met) single nucleotide variant not provided [RCV001973944] Chr9:712373 [GRCh38]
Chr9:712373 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3879C>T (p.Asn1293=) single nucleotide variant not provided [RCV001942271] Chr9:742387 [GRCh38]
Chr9:742387 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.793G>A (p.Glu265Lys) single nucleotide variant Inborn genetic diseases [RCV002545780]|not provided [RCV001887681] Chr9:711559 [GRCh38]
Chr9:711559 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1818_1820del (p.Glu608del) deletion Cerebral palsy, spastic quadriplegic, 2 [RCV002478123]|not provided [RCV001867286] Chr9:712584..712586 [GRCh38]
Chr9:712584..712586 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2952C>G (p.Asn984Lys) single nucleotide variant not provided [RCV001997868] Chr9:731213 [GRCh38]
Chr9:731213 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3869C>A (p.Pro1290His) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002479532]|not provided [RCV001937025] Chr9:742377 [GRCh38]
Chr9:742377 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3733G>A (p.Gly1245Arg) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002492100]|not provided [RCV002014637] Chr9:742241 [GRCh38]
Chr9:742241 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1412G>A (p.Arg471His) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002492080]|Inborn genetic diseases [RCV002562945]|not provided [RCV001992777] Chr9:712178 [GRCh38]
Chr9:712178 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1069G>C (p.Val357Leu) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002484753]|Inborn genetic diseases [RCV003289291]|not provided [RCV001958448] Chr9:711835 [GRCh38]
Chr9:711835 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2968G>A (p.Ala990Thr) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002479837]|not provided [RCV002036598] Chr9:731229 [GRCh38]
Chr9:731229 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1569A>C (p.Arg523Ser) single nucleotide variant not provided [RCV001992917] Chr9:712335 [GRCh38]
Chr9:712335 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_367998)_(968139_?)dup duplication not provided [RCV001939221] Chr9:367998..968139 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2657G>C (p.Arg886Thr) single nucleotide variant not provided [RCV001962138] Chr9:713423 [GRCh38]
Chr9:713423 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3050C>A (p.Ser1017Tyr) single nucleotide variant not provided [RCV002031701] Chr9:732422 [GRCh38]
Chr9:732422 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3554_3556dup duplication KANK1-related condition [RCV003483840]|not provided [RCV002037374] Chr9:740790..740791 [GRCh38]
Chr9:740790..740791 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.674A>G (p.Tyr225Cys) single nucleotide variant not provided [RCV002038318] Chr9:711440 [GRCh38]
Chr9:711440 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1039A>G (p.Ile347Val) single nucleotide variant not provided [RCV001974803] Chr9:711805 [GRCh38]
Chr9:711805 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3770G>A (p.Gly1257Glu) single nucleotide variant not provided [RCV002048942] Chr9:742278 [GRCh38]
Chr9:742278 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_376190)_(677029_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV002030491] Chr9:376190..677029 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2110G>A (p.Asp704Asn) single nucleotide variant Inborn genetic diseases [RCV003348694]|not provided [RCV001979596] Chr9:712876 [GRCh38]
Chr9:712876 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2474A>G (p.His825Arg) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002492292]|Inborn genetic diseases [RCV002641986]|not provided [RCV001989502] Chr9:713240 [GRCh38]
Chr9:713240 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1882A>G (p.Ile628Val) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002482467]|not provided [RCV001867054] Chr9:712648 [GRCh38]
Chr9:712648 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.335A>C (p.Gln112Pro) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002492359]|not provided [RCV002011553] Chr9:711101 [GRCh38]
Chr9:711101 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3995C>T (p.Pro1332Leu) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002497934]|Inborn genetic diseases [RCV002573464]|not provided [RCV002014966] Chr9:744588 [GRCh38]
Chr9:744588 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.980G>C (p.Gly327Ala) single nucleotide variant not provided [RCV002014251] Chr9:711746 [GRCh38]
Chr9:711746 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2740T>G (p.Ser914Ala) single nucleotide variant not provided [RCV002015046] Chr9:730092 [GRCh38]
Chr9:730092 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1607C>A (p.Thr536Lys) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002482423]|not provided [RCV002050951] Chr9:712373 [GRCh38]
Chr9:712373 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2896+2T>G single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002479419]|not provided [RCV001952071] Chr9:730250 [GRCh38]
Chr9:730250 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1322C>T (p.Thr441Ile) single nucleotide variant not provided [RCV001864726] Chr9:712088 [GRCh38]
Chr9:712088 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3741A>G (p.Ile1247Met) single nucleotide variant not provided [RCV001877821] Chr9:742249 [GRCh38]
Chr9:742249 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1020A>C (p.Arg340Ser) single nucleotide variant not provided [RCV002015182] Chr9:711786 [GRCh38]
Chr9:711786 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1885G>A (p.Gly629Ser) single nucleotide variant not provided [RCV001935963] Chr9:712651 [GRCh38]
Chr9:712651 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3068A>G (p.Asp1023Gly) single nucleotide variant not provided [RCV002031703] Chr9:732440 [GRCh38]
Chr9:732440 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2513A>G (p.Gln838Arg) single nucleotide variant not provided [RCV001931888] Chr9:713279 [GRCh38]
Chr9:713279 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2845A>G (p.Thr949Ala) single nucleotide variant Inborn genetic diseases [RCV002562176]|not provided [RCV001974815] Chr9:730197 [GRCh38]
Chr9:730197 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3867G>C (p.Gln1289His) single nucleotide variant not provided [RCV001900083] Chr9:742375 [GRCh38]
Chr9:742375 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2366G>T (p.Gly789Val) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002478375]|not provided [RCV001918836] Chr9:713132 [GRCh38]
Chr9:713132 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3374T>C (p.Val1125Ala) single nucleotide variant not provided [RCV001996099] Chr9:738325 [GRCh38]
Chr9:738325 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2884G>T (p.Ala962Ser) single nucleotide variant not provided [RCV001925584] Chr9:730236 [GRCh38]
Chr9:730236 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_214977)_(677029_?)del deletion Combined immunodeficiency due to DOCK8 deficiency [RCV001940955] Chr9:214977..677029 [GRCh37]
Chr9:9p24.3
pathogenic
NM_015158.5(KANK1):c.1867_1869del (p.Lys623del) deletion not provided [RCV001938506] Chr9:712633..712635 [GRCh38]
Chr9:712633..712635 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2669T>A (p.Phe890Tyr) single nucleotide variant not provided [RCV001877770] Chr9:713435 [GRCh38]
Chr9:713435 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.975T>A (p.Ser325Arg) single nucleotide variant not provided [RCV001997783] Chr9:711741 [GRCh38]
Chr9:711741 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1943G>A (p.Arg648Gln) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002497843]|not provided [RCV001992813] Chr9:712709 [GRCh38]
Chr9:712709 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3371G>A (p.Arg1124His) single nucleotide variant Inborn genetic diseases [RCV002547990]|not provided [RCV001864868] Chr9:738322 [GRCh38]
Chr9:738322 [GRCh37]
Chr9:9p24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_015158.5(KANK1):c.2389G>A (p.Val797Met) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002478139]|not provided [RCV001864886] Chr9:713155 [GRCh38]
Chr9:713155 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3897C>T (p.Asn1299=) single nucleotide variant not provided [RCV002051284] Chr9:742405 [GRCh38]
Chr9:742405 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.106C>T (p.Pro36Ser) single nucleotide variant not provided [RCV002048757] Chr9:710872 [GRCh38]
Chr9:710872 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3067G>A (p.Asp1023Asn) single nucleotide variant not provided [RCV001974703] Chr9:732439 [GRCh38]
Chr9:732439 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2374G>A (p.Ala792Thr) single nucleotide variant not provided [RCV001976179] Chr9:713140 [GRCh38]
Chr9:713140 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3815T>C (p.Met1272Thr) single nucleotide variant not provided [RCV001920237] Chr9:742323 [GRCh38]
Chr9:742323 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2929A>G (p.Ile977Val) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002492253]|not provided [RCV002030596] Chr9:731190 [GRCh38]
Chr9:731190 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3281A>G (p.Asn1094Ser) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002486594]|not provided [RCV001991584] Chr9:734783 [GRCh38]
Chr9:734783 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3689C>G (p.Ala1230Gly) single nucleotide variant not provided [RCV001878900] Chr9:740927 [GRCh38]
Chr9:740927 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2153C>G (p.Ala718Gly) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002489962]|not provided [RCV001866811] Chr9:712919 [GRCh38]
Chr9:712919 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.917A>G (p.Lys306Arg) single nucleotide variant not provided [RCV001951702] Chr9:711683 [GRCh38]
Chr9:711683 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.516G>T (p.Met172Ile) single nucleotide variant not provided [RCV001981743] Chr9:711282 [GRCh38]
Chr9:711282 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3897+6C>T single nucleotide variant KANK1-related condition [RCV003911139]|not provided [RCV001998454] Chr9:742411 [GRCh38]
Chr9:742411 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
NC_000009.11:g.(?_676973)_(677029_?)del deletion not provided [RCV001982307] Chr9:676973..677029 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3382C>G (p.Gln1128Glu) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002492047]|not provided [RCV001939285] Chr9:738333 [GRCh38]
Chr9:738333 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2699-85T>C single nucleotide variant not provided [RCV002034862] Chr9:729966 [GRCh38]
Chr9:729966 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3037T>A (p.Ser1013Thr) single nucleotide variant not provided [RCV002035977] Chr9:732409 [GRCh38]
Chr9:732409 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1909G>A (p.Val637Met) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002479648]|not provided [RCV002019158] Chr9:712675 [GRCh38]
Chr9:712675 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3005+134G>A single nucleotide variant not provided [RCV002034863] Chr9:731400 [GRCh38]
Chr9:731400 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3608C>T (p.Ala1203Val) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002503569]|not provided [RCV001930241] Chr9:740846 [GRCh38]
Chr9:740846 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2635T>C (p.Ser879Pro) single nucleotide variant Inborn genetic diseases [RCV002548746]|not provided [RCV002014211] Chr9:713401 [GRCh38]
Chr9:713401 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.4059_*3dup (p.Phe1351_Ter1353=) microsatellite not provided [RCV001973282] Chr9:745227..745228 [GRCh38]
Chr9:745227..745228 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3946A>G (p.Ile1316Val) single nucleotide variant Inborn genetic diseases [RCV002571291]|not provided [RCV001973315] Chr9:744539 [GRCh38]
Chr9:744539 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.298A>G (p.Asn100Asp) single nucleotide variant not provided [RCV002031961] Chr9:711064 [GRCh38]
Chr9:711064 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_414762)_(745235_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV001973230] Chr9:414762..745235 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.148G>T (p.Asp50Tyr) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002489945]|not provided [RCV002047542] Chr9:710914 [GRCh38]
Chr9:710914 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3137T>C (p.Met1046Thr) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002479645]|Inborn genetic diseases [RCV002573496]|not provided [RCV001974393] Chr9:732509 [GRCh38]
Chr9:732509 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1260G>C (p.Arg420Ser) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002479502]|not provided [RCV001955195] Chr9:712026 [GRCh38]
Chr9:712026 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1997C>T (p.Pro666Leu) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002492305]|Inborn genetic diseases [RCV002625414]|not provided [RCV002033815] Chr9:712763 [GRCh38]
Chr9:712763 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3619G>C (p.Ala1207Pro) single nucleotide variant not provided [RCV001955097] Chr9:740857 [GRCh38]
Chr9:740857 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3842A>G (p.Glu1281Gly) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002479646]|not provided [RCV001974401] Chr9:742350 [GRCh38]
Chr9:742350 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3974A>G (p.Asn1325Ser) single nucleotide variant not provided [RCV002051128] Chr9:744567 [GRCh38]
Chr9:744567 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3897+19G>A single nucleotide variant not provided [RCV002187744] Chr9:742424 [GRCh38]
Chr9:742424 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3005+9A>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002480969]|KANK1-related condition [RCV003933489]|not provided [RCV002144941] Chr9:731275 [GRCh38]
Chr9:731275 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.3444A>T (p.Pro1148=) single nucleotide variant not provided [RCV002211457] Chr9:738395 [GRCh38]
Chr9:738395 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2919A>G (p.Thr973=) single nucleotide variant not provided [RCV002207384] Chr9:731180 [GRCh38]
Chr9:731180 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.528G>A (p.Pro176=) single nucleotide variant not provided [RCV002104595] Chr9:711294 [GRCh38]
Chr9:711294 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.1287A>C (p.Thr429=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002494217]|not provided [RCV002107305] Chr9:712053 [GRCh38]
Chr9:712053 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1236C>T (p.Ile412=) single nucleotide variant not provided [RCV002110068] Chr9:712002 [GRCh38]
Chr9:712002 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3807G>A (p.Thr1269=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002486860]|KANK1-related condition [RCV003893249]|not provided [RCV002086184] Chr9:742315 [GRCh38]
Chr9:742315 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.468G>A (p.Lys156=) single nucleotide variant not provided [RCV002090580] Chr9:711234 [GRCh38]
Chr9:711234 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1131G>A (p.Leu377=) single nucleotide variant not provided [RCV002190863] Chr9:711897 [GRCh38]
Chr9:711897 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3243G>A (p.Glu1081=) single nucleotide variant not provided [RCV002089641] Chr9:732615 [GRCh38]
Chr9:732615 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3697-10C>G single nucleotide variant not provided [RCV002209899] Chr9:742195 [GRCh38]
Chr9:742195 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.66C>T (p.Asp22=) single nucleotide variant not provided [RCV002153558] Chr9:710832 [GRCh38]
Chr9:710832 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2301C>T (p.Asn767=) single nucleotide variant not provided [RCV002212468] Chr9:713067 [GRCh38]
Chr9:713067 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.453C>T (p.Asn151=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002500101]|not provided [RCV002171201] Chr9:711219 [GRCh38]
Chr9:711219 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.1710T>G (p.Ile570Met) single nucleotide variant not provided [RCV002223694] Chr9:712476 [GRCh38]
Chr9:712476 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3898-7_3898-3del microsatellite not provided [RCV002114971] Chr9:744478..744482 [GRCh38]
Chr9:744478..744482 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3554-5_3554-4insTA insertion Cerebral palsy, spastic quadriplegic, 2 [RCV002499978]|not provided [RCV002115171] Chr9:740787..740788 [GRCh38]
Chr9:740787..740788 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.817C>T (p.Arg273Cys) single nucleotide variant not provided [RCV002214483] Chr9:711583 [GRCh38]
Chr9:711583 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3744C>T (p.Asp1248=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002496149]|not provided [RCV002214485] Chr9:742252 [GRCh38]
Chr9:742252 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.264C>T (p.Ser88=) single nucleotide variant not provided [RCV002105298] Chr9:711030 [GRCh38]
Chr9:711030 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.657T>C (p.Asn219=) single nucleotide variant not provided [RCV002212966] Chr9:711423 [GRCh38]
Chr9:711423 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3722C>T (p.Ala1241Val) single nucleotide variant not provided [RCV002095806] Chr9:742230 [GRCh38]
Chr9:742230 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3484G>A (p.Gly1162Ser) single nucleotide variant not provided [RCV002071168] Chr9:738435 [GRCh38]
Chr9:738435 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3996+15T>C single nucleotide variant not provided [RCV002087294] Chr9:744604 [GRCh38]
Chr9:744604 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3618C>T (p.Ala1206=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002498248]|not provided [RCV002213434] Chr9:740856 [GRCh38]
Chr9:740856 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.9C>T (p.His3=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002486970]|not provided [RCV002151933] Chr9:676981 [GRCh38]
Chr9:676981 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1947C>T (p.Gly649=) single nucleotide variant not provided [RCV002114331] Chr9:712713 [GRCh38]
Chr9:712713 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.857T>A (p.Val286Glu) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002498179]|KANK1-related condition [RCV003958532]|not provided [RCV002199443] Chr9:711623 [GRCh38]
Chr9:711623 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3006-12A>G single nucleotide variant not provided [RCV002136823] Chr9:732366 [GRCh38]
Chr9:732366 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.151G>A (p.Asp51Asn) single nucleotide variant not provided [RCV002082871]|not specified [RCV002509751] Chr9:710917 [GRCh38]
Chr9:710917 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
NM_015158.5(KANK1):c.1926A>G (p.Pro642=) single nucleotide variant not provided [RCV002101722] Chr9:712692 [GRCh38]
Chr9:712692 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2698+11C>T single nucleotide variant not provided [RCV002153956] Chr9:713475 [GRCh38]
Chr9:713475 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.24C>T (p.Asn8=) single nucleotide variant not provided [RCV002099735] Chr9:676996 [GRCh38]
Chr9:676996 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3245+9C>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002486990]|KANK1-related condition [RCV003971145]|not provided [RCV002179170] Chr9:732626 [GRCh38]
Chr9:732626 [GRCh37]
Chr9:9p24.3
likely benign
Single allele deletion Chromosome 9p deletion syndrome [RCV002247737] Chr9:203987..11602476 [GRCh38]
Chr9:9p24.3-23
pathogenic
NM_015158.5(KANK1):c.2496G>C (p.Lys832Asn) single nucleotide variant KANK1-related condition [RCV003968851]|not provided [RCV002083942] Chr9:713262 [GRCh38]
Chr9:713262 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.93C>T (p.Tyr31=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002499934]|not provided [RCV002100785] Chr9:710859 [GRCh38]
Chr9:710859 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3177G>A (p.Lys1059=) single nucleotide variant not provided [RCV002177214] Chr9:732549 [GRCh38]
Chr9:732549 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3696+8C>T single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002479851]|KANK1-related condition [RCV003923452]|not provided [RCV002159726] Chr9:740942 [GRCh38]
Chr9:740942 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1785G>A (p.Val595=) single nucleotide variant not provided [RCV002216852] Chr9:712551 [GRCh38]
Chr9:712551 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1239C>T (p.Val413=) single nucleotide variant not provided [RCV002120140] Chr9:712005 [GRCh38]
Chr9:712005 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3105GGA[4] (p.Glu1039del) microsatellite KANK1-related condition [RCV003971163]|not provided [RCV002184260] Chr9:732475..732477 [GRCh38]
Chr9:732475..732477 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.906C>T (p.Val302=) single nucleotide variant not provided [RCV002161519] Chr9:711672 [GRCh38]
Chr9:711672 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.121C>T (p.Leu41=) single nucleotide variant not provided [RCV002084197] Chr9:710887 [GRCh38]
Chr9:710887 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3057C>T (p.Ser1019=) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002494136]|not provided [RCV002219452] Chr9:732429 [GRCh38]
Chr9:732429 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1196G>A (p.Arg399Gln) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002494488]|KANK1-related condition [RCV003951279]|not provided [RCV002158583] Chr9:711962 [GRCh38]
Chr9:711962 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3855G>A (p.Leu1285=) single nucleotide variant not provided [RCV002200740] Chr9:742363 [GRCh38]
Chr9:742363 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1995G>A (p.Val665=) single nucleotide variant KANK1-related condition [RCV003978548]|not provided [RCV002200106] Chr9:712761 [GRCh38]
Chr9:712761 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3245+18T>A single nucleotide variant not provided [RCV002156622] Chr9:732635 [GRCh38]
Chr9:732635 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3697-17G>C single nucleotide variant not provided [RCV002082537] Chr9:742188 [GRCh38]
Chr9:742188 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3060G>A (p.Glu1020=) single nucleotide variant not provided [RCV002142168] Chr9:732432 [GRCh38]
Chr9:732432 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1103G>A (p.Arg368Gln) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002498095]|KANK1-related condition [RCV003941268]|not provided [RCV002099492] Chr9:711869 [GRCh38]
Chr9:711869 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2100A>G (p.Leu700=) single nucleotide variant KANK1-related condition [RCV003973765]|not provided [RCV003115822] Chr9:712866 [GRCh38]
Chr9:712866 [GRCh37]
Chr9:9p24.3
likely benign
NC_000009.11:g.(?_382493)_(732637_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV003114046] Chr9:382493..732637 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_432146)_(847163_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV003114049] Chr9:432146..847163 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_367998)_(713484_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV003114054] Chr9:367998..713484 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_463497)_(745235_?)dup duplication Combined immunodeficiency due to DOCK8 deficiency [RCV003114056] Chr9:463497..745235 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3795C>T (p.Asp1265=) single nucleotide variant not provided [RCV003115778] Chr9:742303 [GRCh38]
Chr9:742303 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2699-6T>C single nucleotide variant not provided [RCV003121236] Chr9:730045 [GRCh38]
Chr9:730045 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1526C>T (p.Pro509Leu) single nucleotide variant not provided [RCV003121057] Chr9:712292 [GRCh38]
Chr9:712292 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3931G>A (p.Ala1311Thr) single nucleotide variant not provided [RCV003118993] Chr9:744524 [GRCh38]
Chr9:744524 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_676973)_(2729727_?)del deletion not provided [RCV003119520] Chr9:676973..2729727 [GRCh37]
Chr9:9p24.3-24.2
uncertain significance
NC_000009.11:g.(?_463497)_(713484_?)dup duplication not provided [RCV003119521] Chr9:463497..713484 [GRCh37]
Chr9:9p24.3
uncertain significance
NC_000009.11:g.(?_367998)_(677029_?)dup duplication not provided [RCV003119522] Chr9:367998..677029 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
NM_015158.5(KANK1):c.3755del (p.Gly1252fs) deletion not provided [RCV002276193] Chr9:742261 [GRCh38]
Chr9:742261 [GRCh37]
Chr9:9p24.3
uncertain significance
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 9p24.3-23(chr9:203861-12127088) copy number loss Chromosome 9p deletion syndrome [RCV002280766] Chr9:203861..12127088 [GRCh37]
Chr9:9p24.3-23
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1
likely pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-12570076) copy number loss Chromosome 9p deletion syndrome [RCV002280768] Chr9:203861..12570076 [GRCh37]
Chr9:9p24.3-23
pathogenic
NC_000009.11:g.(504755_676889)_(677010_710803)del deletion not specified [RCV002283380] Chr9:676889..677010 [GRCh37]
Chr9:9p24.3
uncertain significance
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 9p24.3-22.3(chr9:203861-15048247)x1 copy number loss See cases [RCV002287555] Chr9:203861..15048247 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
NM_015158.5(KANK1):c.1225A>G (p.Met409Val) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV003131294]|Inborn genetic diseases [RCV003164826] Chr9:711991 [GRCh38]
Chr9:711991 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:394523-518103)x3 copy number gain not provided [RCV002474959] Chr9:394523..518103 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203862-5958840)x4 copy number gain not provided [RCV002472665] Chr9:203862..5958840 [GRCh37]
Chr9:9p24.3-24.1
likely pathogenic
GRCh37/hg19 9p24.3(chr9:535492-685819)x3 copy number gain not provided [RCV002473445] Chr9:535492..685819 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.8A>G (p.His3Arg) single nucleotide variant not provided [RCV002303682] Chr9:676980 [GRCh38]
Chr9:676980 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.38-3358_38-2787del deletion Schizophrenia [RCV002463498] Chr9:707446..708017 [GRCh38]
Chr9:707446..708017 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3091C>T (p.Pro1031Ser) single nucleotide variant not provided [RCV002304135] Chr9:732463 [GRCh38]
Chr9:732463 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1895A>G (p.Asp632Gly) single nucleotide variant not provided [RCV002305252] Chr9:712661 [GRCh38]
Chr9:712661 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1171G>C (p.Glu391Gln) single nucleotide variant not provided [RCV002300337] Chr9:711937 [GRCh38]
Chr9:711937 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.556A>G (p.Ser186Gly) single nucleotide variant not provided [RCV002295626] Chr9:711322 [GRCh38]
Chr9:711322 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.59G>A (p.Ser20Asn) single nucleotide variant not provided [RCV002296205] Chr9:710825 [GRCh38]
Chr9:710825 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3685A>C (p.Lys1229Gln) single nucleotide variant not provided [RCV002298965] Chr9:740923 [GRCh38]
Chr9:740923 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3514C>A (p.His1172Asn) single nucleotide variant not provided [RCV002302992] Chr9:738465 [GRCh38]
Chr9:738465 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2090A>G (p.Asn697Ser) single nucleotide variant not provided [RCV003032930] Chr9:712856 [GRCh38]
Chr9:712856 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1582G>A (p.Gly528Ser) single nucleotide variant not provided [RCV002617153] Chr9:712348 [GRCh38]
Chr9:712348 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2607C>T (p.Thr869=) single nucleotide variant KANK1-related condition [RCV003943479]|not provided [RCV002681748] Chr9:713373 [GRCh38]
Chr9:713373 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV003014744] Chr9:676973 [GRCh38]
Chr9:676973 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1984G>A (p.Val662Ile) single nucleotide variant not provided [RCV002616756] Chr9:712750 [GRCh38]
Chr9:712750 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.197G>A (p.Arg66Lys) single nucleotide variant not provided [RCV002994945] Chr9:710963 [GRCh38]
Chr9:710963 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.157C>A (p.Gln53Lys) single nucleotide variant Inborn genetic diseases [RCV002617067]|not provided [RCV002617066] Chr9:710923 [GRCh38]
Chr9:710923 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3881G>A (p.Gly1294Asp) single nucleotide variant Inborn genetic diseases [RCV002840517] Chr9:742389 [GRCh38]
Chr9:742389 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3245+15C>T single nucleotide variant not provided [RCV002881511] Chr9:732632 [GRCh38]
Chr9:732632 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3448G>T (p.Val1150Phe) single nucleotide variant Inborn genetic diseases [RCV003308373]|not provided [RCV002971066] Chr9:738399 [GRCh38]
Chr9:738399 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2239G>C (p.Gly747Arg) single nucleotide variant not provided [RCV002776063] Chr9:713005 [GRCh38]
Chr9:713005 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1242G>T (p.Val414=) single nucleotide variant not provided [RCV002617175] Chr9:712008 [GRCh38]
Chr9:712008 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1003C>T (p.Leu335Phe) single nucleotide variant Inborn genetic diseases [RCV002773996] Chr9:711769 [GRCh38]
Chr9:711769 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2741C>T (p.Ser914Leu) single nucleotide variant Inborn genetic diseases [RCV003250673]|not provided [RCV002972211] Chr9:730093 [GRCh38]
Chr9:730093 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3825C>T (p.Ser1275=) single nucleotide variant KANK1-related condition [RCV003946287]|not provided [RCV002615092] Chr9:742333 [GRCh38]
Chr9:742333 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.3710C>T (p.Ala1237Val) single nucleotide variant not provided [RCV002815862] Chr9:742218 [GRCh38]
Chr9:742218 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3955C>G (p.Leu1319Val) single nucleotide variant Inborn genetic diseases [RCV002729187] Chr9:744548 [GRCh38]
Chr9:744548 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1147G>A (p.Asp383Asn) single nucleotide variant not provided [RCV002614429] Chr9:711913 [GRCh38]
Chr9:711913 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:341063-671330)x3 copy number gain not provided [RCV002475742] Chr9:341063..671330 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3906C>T (p.Ser1302=) single nucleotide variant not provided [RCV002756694] Chr9:744499 [GRCh38]
Chr9:744499 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1758G>A (p.Val586=) single nucleotide variant not provided [RCV002866032] Chr9:712524 [GRCh38]
Chr9:712524 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1283G>A (p.Gly428Glu) single nucleotide variant Inborn genetic diseases [RCV002979643]|not provided [RCV002994056] Chr9:712049 [GRCh38]
Chr9:712049 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.124G>A (p.Asp42Asn) single nucleotide variant not provided [RCV002776591] Chr9:710890 [GRCh38]
Chr9:710890 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3092C>T (p.Pro1031Leu) single nucleotide variant not provided [RCV002681818] Chr9:732464 [GRCh38]
Chr9:732464 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.454C>A (p.Leu152Ile) single nucleotide variant not provided [RCV002975247] Chr9:711220 [GRCh38]
Chr9:711220 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1659T>G (p.Pro553=) single nucleotide variant not provided [RCV002843714] Chr9:712425 [GRCh38]
Chr9:712425 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2017A>G (p.Thr673Ala) single nucleotide variant not provided [RCV002775434] Chr9:712783 [GRCh38]
Chr9:712783 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3236T>A (p.Ile1079Asn) single nucleotide variant not provided [RCV002771302] Chr9:732608 [GRCh38]
Chr9:732608 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh38/hg38 9p24.3(chr9:381430-839211)x3 copy number gain See cases [RCV000135717] Chr9:381430..839211 [GRCh38]
Chr9:381430..839211 [GRCh37]
Chr9:371430..829211 [NCBI36]
Chr9:9p24.3
uncertain significance
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 9p24.3-24.1(chr9:204104-5426099)x3 copy number gain See cases [RCV000137339] Chr9:204104..5426099 [GRCh38]
Chr9:204104..5426099 [GRCh37]
Chr9:194104..5416099 [NCBI36]
Chr9:9p24.3-24.1
pathogenic
GRCh38/hg38 9p24.3-24.2(chr9:204104-3367760)x1 copy number loss See cases [RCV000137259] Chr9:204104..3367760 [GRCh38]
Chr9:204104..3367760 [GRCh37]
Chr9:194104..3357760 [NCBI36]
Chr9:9p24.3-24.2
pathogenic
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
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-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(chr9:367918-639010)x1 copy number loss See cases [RCV000449253] Chr9:367918..639010 [GRCh37]
Chr9:9p24.3
uncertain significance
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 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3(chr9:304377-639010)x3 copy number gain See cases [RCV000448505] Chr9:304377..639010 [GRCh37]
Chr9:9p24.3
benign
GRCh37/hg19 9p24.3(chr9:517445-632804)x3 copy number gain See cases [RCV000510171] Chr9:517445..632804 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:403284-660290)x3 copy number gain See cases [RCV000511652] Chr9:403284..660290 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3(chr9:314208-517446)x3 copy number gain See cases [RCV000511931] Chr9:314208..517446 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203861-539781)x1 copy number loss See cases [RCV000510930] Chr9:203861..539781 [GRCh37]
Chr9:9p24.3
uncertain significance
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
NM_015158.5(KANK1):c.1732C>T (p.His578Tyr) single nucleotide variant KANK1-related condition [RCV003970533]|not provided [RCV000925757] Chr9:712498 [GRCh38]
Chr9:712498 [GRCh37]
Chr9:9p24.3
likely benign
GRCh37/hg19 9p24.3(chr9:608682-705931)x1 copy number loss not provided [RCV000846365] Chr9:608682..705931 [GRCh37]
Chr9:9p24.3
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(chr9:402293-518499)x3 copy number gain not provided [RCV000846030] Chr9:402293..518499 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1952A>C (p.Asn651Thr) single nucleotide variant Inborn genetic diseases [RCV003271594] Chr9:712718 [GRCh38]
Chr9:712718 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3102A>G (p.Glu1034=) single nucleotide variant not provided [RCV000958136] Chr9:732474 [GRCh38]
Chr9:732474 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2058C>T (p.Thr686=) single nucleotide variant not provided [RCV002681192] Chr9:712824 [GRCh38]
Chr9:712824 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2699-270_2699-269insG insertion not provided [RCV001636389] Chr9:729781..729782 [GRCh38]
Chr9:729781..729782 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.560T>A (p.Phe187Tyr) single nucleotide variant not provided [RCV001889539] Chr9:711326 [GRCh38]
Chr9:711326 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1269G>C (p.Lys423Asn) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV002479571]|not provided [RCV002021857] Chr9:712035 [GRCh38]
Chr9:712035 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1277_1282dup (p.Ala426_Val427dup) duplication KANK1-related condition [RCV003951177]|not provided [RCV002104356] Chr9:712040..712041 [GRCh38]
Chr9:712040..712041 [GRCh37]
Chr9:9p24.3
benign|likely benign
NM_015158.5(KANK1):c.792C>G (p.Arg264=) single nucleotide variant not provided [RCV002082577] Chr9:711558 [GRCh38]
Chr9:711558 [GRCh37]
Chr9:9p24.3
likely benign
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 9p24.3(chr9:203862-900186)x3 copy number gain not provided [RCV002473739] Chr9:203862..900186 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1730T>G (p.Met577Arg) single nucleotide variant Inborn genetic diseases [RCV002754776] Chr9:712496 [GRCh38]
Chr9:712496 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3886C>G (p.Leu1296Val) single nucleotide variant not provided [RCV002616360] Chr9:742394 [GRCh38]
Chr9:742394 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3334-13G>T single nucleotide variant not provided [RCV002726988] Chr9:738272 [GRCh38]
Chr9:738272 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2142G>A (p.Thr714=) single nucleotide variant not provided [RCV002681962] Chr9:712908 [GRCh38]
Chr9:712908 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3323G>C (p.Ser1108Thr) single nucleotide variant Inborn genetic diseases [RCV002879713] Chr9:734825 [GRCh38]
Chr9:734825 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.977C>G (p.Ala326Gly) single nucleotide variant not provided [RCV003014680] Chr9:711743 [GRCh38]
Chr9:711743 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3123A>G (p.Glu1041=) single nucleotide variant KANK1-related condition [RCV003936318]|not provided [RCV002770981] Chr9:732495 [GRCh38]
Chr9:732495 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.820C>T (p.Leu274=) single nucleotide variant not provided [RCV002995131] Chr9:711586 [GRCh38]
Chr9:711586 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2897C>T (p.Ala966Val) single nucleotide variant Inborn genetic diseases [RCV002879630] Chr9:731158 [GRCh38]
Chr9:731158 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2880C>T (p.Ile960=) single nucleotide variant not provided [RCV003076737] Chr9:730232 [GRCh38]
Chr9:730232 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.977C>T (p.Ala326Val) single nucleotide variant not provided [RCV002904469] Chr9:711743 [GRCh38]
Chr9:711743 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.427C>T (p.Pro143Ser) single nucleotide variant Inborn genetic diseases [RCV002753591] Chr9:711193 [GRCh38]
Chr9:711193 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.528G>T (p.Pro176=) single nucleotide variant not provided [RCV003034428] Chr9:711294 [GRCh38]
Chr9:711294 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1765T>C (p.Cys589Arg) single nucleotide variant not provided [RCV002613458] Chr9:712531 [GRCh38]
Chr9:712531 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2163A>G (p.Glu721=) single nucleotide variant KANK1-related condition [RCV003961332]|not provided [RCV002967734] Chr9:712929 [GRCh38]
Chr9:712929 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3213A>T (p.Glu1071Asp) single nucleotide variant Inborn genetic diseases [RCV002969864]|not provided [RCV003561139] Chr9:732585 [GRCh38]
Chr9:732585 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1182G>A (p.Glu394=) single nucleotide variant not provided [RCV003035725] Chr9:711948 [GRCh38]
Chr9:711948 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1774A>T (p.Ser592Cys) single nucleotide variant Inborn genetic diseases [RCV002782016] Chr9:712540 [GRCh38]
Chr9:712540 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2159G>C (p.Gly720Ala) single nucleotide variant not provided [RCV002785287] Chr9:712925 [GRCh38]
Chr9:712925 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3298A>G (p.Ile1100Val) single nucleotide variant Inborn genetic diseases [RCV002821284]|not provided [RCV003546889] Chr9:734800 [GRCh38]
Chr9:734800 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3620C>A (p.Ala1207Asp) single nucleotide variant Inborn genetic diseases [RCV002912240] Chr9:740858 [GRCh38]
Chr9:740858 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3131G>A (p.Arg1044Gln) single nucleotide variant Inborn genetic diseases [RCV002977983]|not provided [RCV003111733] Chr9:732503 [GRCh38]
Chr9:732503 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.356C>G (p.Ser119Ter) single nucleotide variant not specified [RCV002510354] Chr9:711122 [GRCh38]
Chr9:711122 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1039A>C (p.Ile347Leu) single nucleotide variant not provided [RCV002796267] Chr9:711805 [GRCh38]
Chr9:711805 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.265A>G (p.Thr89Ala) single nucleotide variant not provided [RCV003021405] Chr9:711031 [GRCh38]
Chr9:711031 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.824A>G (p.Lys275Arg) single nucleotide variant Inborn genetic diseases [RCV002707546] Chr9:711590 [GRCh38]
Chr9:711590 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3699G>A (p.Ala1233=) single nucleotide variant not provided [RCV002619628] Chr9:742207 [GRCh38]
Chr9:742207 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2897-13_2897-9del deletion not provided [RCV002695315] Chr9:731142..731146 [GRCh38]
Chr9:731142..731146 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.196A>G (p.Arg66Gly) single nucleotide variant Inborn genetic diseases [RCV002596137]|not provided [RCV002619740] Chr9:710962 [GRCh38]
Chr9:710962 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1555G>T (p.Val519Leu) single nucleotide variant Inborn genetic diseases [RCV002782421] Chr9:712321 [GRCh38]
Chr9:712321 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3467A>G (p.Asn1156Ser) single nucleotide variant Inborn genetic diseases [RCV003080320]|not provided [RCV003080319] Chr9:738418 [GRCh38]
Chr9:738418 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1497A>G (p.Lys499=) single nucleotide variant not provided [RCV002690825] Chr9:712263 [GRCh38]
Chr9:712263 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3828G>A (p.Glu1276=) single nucleotide variant not provided [RCV002952854] Chr9:742336 [GRCh38]
Chr9:742336 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.800T>C (p.Met267Thr) single nucleotide variant not provided [RCV002621783] Chr9:711566 [GRCh38]
Chr9:711566 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3776_3778del (p.Asp1259del) deletion not provided [RCV002740055] Chr9:742282..742284 [GRCh38]
Chr9:742282..742284 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.612C>G (p.Asn204Lys) single nucleotide variant not provided [RCV002621824] Chr9:711378 [GRCh38]
Chr9:711378 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2956G>T (p.Asp986Tyr) single nucleotide variant not provided [RCV002639551] Chr9:731217 [GRCh38]
Chr9:731217 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3091C>G (p.Pro1031Ala) single nucleotide variant not provided [RCV002824198] Chr9:732463 [GRCh38]
Chr9:732463 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1371G>A (p.Leu457=) single nucleotide variant not provided [RCV002979832] Chr9:712137 [GRCh38]
Chr9:712137 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3240A>G (p.Arg1080=) single nucleotide variant not provided [RCV002909819] Chr9:732612 [GRCh38]
Chr9:732612 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.3443C>G (p.Pro1148Arg) single nucleotide variant not provided [RCV002639443] Chr9:738394 [GRCh38]
Chr9:738394 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3694C>G (p.Gln1232Glu) single nucleotide variant not provided [RCV003100426] Chr9:740932 [GRCh38]
Chr9:740932 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3570T>C (p.Asp1190=) single nucleotide variant KANK1-related condition [RCV003906529]|not provided [RCV002591960] Chr9:740808 [GRCh38]
Chr9:740808 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2265G>A (p.Lys755=) single nucleotide variant not provided [RCV002952816] Chr9:713031 [GRCh38]
Chr9:713031 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2279G>A (p.Gly760Asp) single nucleotide variant Inborn genetic diseases [RCV003164787]|not provided [RCV002576363] Chr9:713045 [GRCh38]
Chr9:713045 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3006-16C>G single nucleotide variant not provided [RCV002805859] Chr9:732362 [GRCh38]
Chr9:732362 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.920dup (p.Asn307fs) duplication not provided [RCV002876849] Chr9:711681..711682 [GRCh38]
Chr9:711681..711682 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3959T>C (p.Leu1320Pro) single nucleotide variant not provided [RCV002668083] Chr9:744552 [GRCh38]
Chr9:744552 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.208T>C (p.Ser70Pro) single nucleotide variant not provided [RCV002595735] Chr9:710974 [GRCh38]
Chr9:710974 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2912A>G (p.Glu971Gly) single nucleotide variant Inborn genetic diseases [RCV002712860] Chr9:731173 [GRCh38]
Chr9:731173 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.149A>G (p.Asp50Gly) single nucleotide variant not provided [RCV002805425] Chr9:710915 [GRCh38]
Chr9:710915 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3980C>T (p.Ala1327Val) single nucleotide variant Inborn genetic diseases [RCV002713489] Chr9:744573 [GRCh38]
Chr9:744573 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1009C>T (p.Arg337Trp) single nucleotide variant not provided [RCV002933052] Chr9:711775 [GRCh38]
Chr9:711775 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2200C>T (p.Arg734Trp) single nucleotide variant not provided [RCV002958794] Chr9:712966 [GRCh38]
Chr9:712966 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.504_514dup (p.Met172fs) duplication not provided [RCV002711798] Chr9:711268..711269 [GRCh38]
Chr9:711268..711269 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.984C>A (p.Asn328Lys) single nucleotide variant Inborn genetic diseases [RCV002666464]|not provided [RCV003778547] Chr9:711750 [GRCh38]
Chr9:711750 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.646T>C (p.Tyr216His) single nucleotide variant not provided [RCV002801357] Chr9:711412 [GRCh38]
Chr9:711412 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3247T>C (p.Tyr1083His) single nucleotide variant not provided [RCV002663855] Chr9:734749 [GRCh38]
Chr9:734749 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2674A>C (p.Lys892Gln) single nucleotide variant not provided [RCV002663627] Chr9:713440 [GRCh38]
Chr9:713440 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2881G>A (p.Ala961Thr) single nucleotide variant not provided [RCV002624813] Chr9:730233 [GRCh38]
Chr9:730233 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2894A>G (p.Tyr965Cys) single nucleotide variant Inborn genetic diseases [RCV003289579]|not provided [RCV002642529] Chr9:730246 [GRCh38]
Chr9:730246 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1821G>A (p.Glu607=) single nucleotide variant not provided [RCV002700206] Chr9:712587 [GRCh38]
Chr9:712587 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3871G>A (p.Gly1291Ser) single nucleotide variant Inborn genetic diseases [RCV002891131]|not provided [RCV002891132] Chr9:742379 [GRCh38]
Chr9:742379 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1027G>A (p.Gly343Arg) single nucleotide variant not provided [RCV002766168] Chr9:711793 [GRCh38]
Chr9:711793 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2059G>A (p.Glu687Lys) single nucleotide variant Inborn genetic diseases [RCV002764265]|not provided [RCV003738356] Chr9:712825 [GRCh38]
Chr9:712825 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3422C>G (p.Ala1141Gly) single nucleotide variant Inborn genetic diseases [RCV002764709] Chr9:738373 [GRCh38]
Chr9:738373 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3672G>A (p.Gly1224=) single nucleotide variant not provided [RCV002740605] Chr9:740910 [GRCh38]
Chr9:740910 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1397A>G (p.Lys466Arg) single nucleotide variant not provided [RCV002933172] Chr9:712163 [GRCh38]
Chr9:712163 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2831C>T (p.Pro944Leu) single nucleotide variant Inborn genetic diseases [RCV002742633] Chr9:730183 [GRCh38]
Chr9:730183 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1165T>G (p.Ser389Ala) single nucleotide variant Inborn genetic diseases [RCV003167528]|not provided [RCV002626584] Chr9:711931 [GRCh38]
Chr9:711931 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2160A>G (p.Gly720=) single nucleotide variant not provided [RCV002852049] Chr9:712926 [GRCh38]
Chr9:712926 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.323T>C (p.Ile108Thr) single nucleotide variant not provided [RCV003039881] Chr9:711089 [GRCh38]
Chr9:711089 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3099AGA[1] (p.Glu1039del) microsatellite not provided [RCV002594635] Chr9:732469..732471 [GRCh38]
Chr9:732469..732471 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2306A>G (p.Asn769Ser) single nucleotide variant not provided [RCV003043229] Chr9:713072 [GRCh38]
Chr9:713072 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1501G>A (p.Val501Ile) single nucleotide variant Inborn genetic diseases [RCV002598418]|not provided [RCV002625647] Chr9:712267 [GRCh38]
Chr9:712267 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2420C>A (p.Ser807Tyr) single nucleotide variant not provided [RCV002957234] Chr9:713186 [GRCh38]
Chr9:713186 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1527G>A (p.Pro509=) single nucleotide variant not provided [RCV002595988] Chr9:712293 [GRCh38]
Chr9:712293 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.822G>T (p.Leu274=) single nucleotide variant not provided [RCV002575093] Chr9:711588 [GRCh38]
Chr9:711588 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2176G>A (p.Asp726Asn) single nucleotide variant not provided [RCV002595121] Chr9:712942 [GRCh38]
Chr9:712942 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2663C>G (p.Pro888Arg) single nucleotide variant not provided [RCV002958067] Chr9:713429 [GRCh38]
Chr9:713429 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3625G>A (p.Glu1209Lys) single nucleotide variant Inborn genetic diseases [RCV002958239]|not provided [RCV002958240] Chr9:740863 [GRCh38]
Chr9:740863 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.219C>T (p.Cys73=) single nucleotide variant not provided [RCV002800920] Chr9:710985 [GRCh38]
Chr9:710985 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2621A>G (p.Asn874Ser) single nucleotide variant not provided [RCV002573926] Chr9:713387 [GRCh38]
Chr9:713387 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3697-7C>T single nucleotide variant not provided [RCV002596053] Chr9:742198 [GRCh38]
Chr9:742198 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1428T>G (p.Leu476=) single nucleotide variant not provided [RCV002574467] Chr9:712194 [GRCh38]
Chr9:712194 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2896+8T>A single nucleotide variant not provided [RCV002642430] Chr9:730256 [GRCh38]
Chr9:730256 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1567A>G (p.Arg523Gly) single nucleotide variant not provided [RCV003044869] Chr9:712333 [GRCh38]
Chr9:712333 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3416A>G (p.Tyr1139Cys) single nucleotide variant KANK1-related condition [RCV003926418]|not provided [RCV002578857] Chr9:738367 [GRCh38]
Chr9:738367 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2229T>C (p.Ser743=) single nucleotide variant not provided [RCV002671145] Chr9:712995 [GRCh38]
Chr9:712995 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2943A>G (p.Lys981=) single nucleotide variant not provided [RCV002941981] Chr9:731204 [GRCh38]
Chr9:731204 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3217G>C (p.Glu1073Gln) single nucleotide variant Inborn genetic diseases [RCV002633380]|not provided [RCV002650986] Chr9:732589 [GRCh38]
Chr9:732589 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
NM_015158.5(KANK1):c.1010G>A (p.Arg337Gln) single nucleotide variant not provided [RCV002966527] Chr9:711776 [GRCh38]
Chr9:711776 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2003C>G (p.Thr668Ser) single nucleotide variant not provided [RCV002715704] Chr9:712769 [GRCh38]
Chr9:712769 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1616G>A (p.Gly539Glu) single nucleotide variant Inborn genetic diseases [RCV003010927] Chr9:712382 [GRCh38]
Chr9:712382 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3436A>T (p.Ile1146Phe) single nucleotide variant Inborn genetic diseases [RCV002940697] Chr9:738387 [GRCh38]
Chr9:738387 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1002G>T (p.Gln334His) single nucleotide variant Inborn genetic diseases [RCV002769660] Chr9:711768 [GRCh38]
Chr9:711768 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.323T>G (p.Ile108Arg) single nucleotide variant not provided [RCV002581307] Chr9:711089 [GRCh38]
Chr9:711089 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2416G>C (p.Glu806Gln) single nucleotide variant not provided [RCV002632741] Chr9:713182 [GRCh38]
Chr9:713182 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3412G>T (p.Asp1138Tyr) single nucleotide variant not provided [RCV002627465] Chr9:738363 [GRCh38]
Chr9:738363 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.983A>G (p.Asn328Ser) single nucleotide variant not provided [RCV002937082] Chr9:711749 [GRCh38]
Chr9:711749 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3941A>G (p.Lys1314Arg) single nucleotide variant not provided [RCV002962549] Chr9:744534 [GRCh38]
Chr9:744534 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1935C>T (p.Cys645=) single nucleotide variant not provided [RCV002646086] Chr9:712701 [GRCh38]
Chr9:712701 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1979C>T (p.Ala660Val) single nucleotide variant not provided [RCV002598713] Chr9:712745 [GRCh38]
Chr9:712745 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.221C>T (p.Pro74Leu) single nucleotide variant not provided [RCV002649482] Chr9:710987 [GRCh38]
Chr9:710987 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.287A>G (p.Asn96Ser) single nucleotide variant not provided [RCV002963264] Chr9:711053 [GRCh38]
Chr9:711053 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.413G>A (p.Arg138Gln) single nucleotide variant Inborn genetic diseases [RCV002896811] Chr9:711179 [GRCh38]
Chr9:711179 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.627G>C (p.Lys209Asn) single nucleotide variant Inborn genetic diseases [RCV002748191] Chr9:711393 [GRCh38]
Chr9:711393 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3708G>A (p.Thr1236=) single nucleotide variant not provided [RCV002597453] Chr9:742216 [GRCh38]
Chr9:742216 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2582C>T (p.Ser861Phe) single nucleotide variant Inborn genetic diseases [RCV002921227] Chr9:713348 [GRCh38]
Chr9:713348 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3100G>C (p.Glu1034Gln) single nucleotide variant Inborn genetic diseases [RCV002769736] Chr9:732472 [GRCh38]
Chr9:732472 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3299T>C (p.Ile1100Thr) single nucleotide variant not provided [RCV003044284] Chr9:734801 [GRCh38]
Chr9:734801 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3053C>A (p.Ser1018Tyr) single nucleotide variant Inborn genetic diseases [RCV002896638] Chr9:732425 [GRCh38]
Chr9:732425 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2432C>T (p.Pro811Leu) single nucleotide variant not provided [RCV003088564] Chr9:713198 [GRCh38]
Chr9:713198 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3641T>G (p.Met1214Arg) single nucleotide variant Inborn genetic diseases [RCV002792809] Chr9:740879 [GRCh38]
Chr9:740879 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2761C>G (p.Gln921Glu) single nucleotide variant not provided [RCV002576941] Chr9:730113 [GRCh38]
Chr9:730113 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3832G>A (p.Gly1278Arg) single nucleotide variant not provided [RCV002579857] Chr9:742340 [GRCh38]
Chr9:742340 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2082C>G (p.Ser694=) single nucleotide variant not provided [RCV002857549] Chr9:712848 [GRCh38]
Chr9:712848 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2598C>T (p.Leu866=) single nucleotide variant not provided [RCV003044749] Chr9:713364 [GRCh38]
Chr9:713364 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.4043G>A (p.Arg1348Gln) single nucleotide variant Inborn genetic diseases [RCV002675019]|not provided [RCV003730367] Chr9:745219 [GRCh38]
Chr9:745219 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2475C>G (p.His825Gln) single nucleotide variant not provided [RCV003026325] Chr9:713241 [GRCh38]
Chr9:713241 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1868A>G (p.Lys623Arg) single nucleotide variant Inborn genetic diseases [RCV003377884]|not provided [RCV002581691] Chr9:712634 [GRCh38]
Chr9:712634 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.205C>T (p.Pro69Ser) single nucleotide variant not provided [RCV003044341] Chr9:710971 [GRCh38]
Chr9:710971 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.207G>A (p.Pro69=) single nucleotide variant not provided [RCV003087141] Chr9:710973 [GRCh38]
Chr9:710973 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2896+13A>C single nucleotide variant not provided [RCV003048275] Chr9:730261 [GRCh38]
Chr9:730261 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.270A>C (p.Glu90Asp) single nucleotide variant not provided [RCV003064375] Chr9:711036 [GRCh38]
Chr9:711036 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.88C>T (p.Pro30Ser) single nucleotide variant not provided [RCV002720633] Chr9:710854 [GRCh38]
Chr9:710854 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1437C>T (p.Thr479=) single nucleotide variant not provided [RCV002966368] Chr9:712203 [GRCh38]
Chr9:712203 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2765C>A (p.Thr922Lys) single nucleotide variant not provided [RCV002598481] Chr9:730117 [GRCh38]
Chr9:730117 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.313A>G (p.Asn105Asp) single nucleotide variant not provided [RCV002601906] Chr9:711079 [GRCh38]
Chr9:711079 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2471A>G (p.Asp824Gly) single nucleotide variant KANK1-related condition [RCV003926742]|not provided [RCV002650984] Chr9:713237 [GRCh38]
Chr9:713237 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
NM_015158.5(KANK1):c.1414C>T (p.Leu472=) single nucleotide variant not provided [RCV002576873] Chr9:712180 [GRCh38]
Chr9:712180 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.677C>T (p.Ala226Val) single nucleotide variant not provided [RCV002715703] Chr9:711443 [GRCh38]
Chr9:711443 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1191G>T (p.Glu397Asp) single nucleotide variant not provided [RCV002632188] Chr9:711957 [GRCh38]
Chr9:711957 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3526G>A (p.Glu1176Lys) single nucleotide variant Inborn genetic diseases [RCV003161869]|not provided [RCV002578981] Chr9:738477 [GRCh38]
Chr9:738477 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3736C>T (p.Arg1246Trp) single nucleotide variant not provided [RCV003011022] Chr9:742244 [GRCh38]
Chr9:742244 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3472G>A (p.Ala1158Thr) single nucleotide variant Inborn genetic diseases [RCV002723139] Chr9:738423 [GRCh38]
Chr9:738423 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2947G>C (p.Gly983Arg) single nucleotide variant not provided [RCV002726019] Chr9:731208 [GRCh38]
Chr9:731208 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1971G>A (p.Gln657=) single nucleotide variant not provided [RCV003068462] Chr9:712737 [GRCh38]
Chr9:712737 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.1834G>A (p.Asp612Asn) single nucleotide variant Inborn genetic diseases [RCV002583162]|not provided [RCV002583161] Chr9:712600 [GRCh38]
Chr9:712600 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1798T>A (p.Cys600Ser) single nucleotide variant Inborn genetic diseases [RCV002655258] Chr9:712564 [GRCh38]
Chr9:712564 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.545C>A (p.Pro182His) single nucleotide variant not provided [RCV002604679] Chr9:711311 [GRCh38]
Chr9:711311 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2062A>T (p.Thr688Ser) single nucleotide variant not provided [RCV002654770] Chr9:712828 [GRCh38]
Chr9:712828 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1457C>T (p.Thr486Ile) single nucleotide variant not provided [RCV003092226] Chr9:712223 [GRCh38]
Chr9:712223 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3686A>T (p.Lys1229Ile) single nucleotide variant not provided [RCV003066163] Chr9:740924 [GRCh38]
Chr9:740924 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3106G>A (p.Glu1036Lys) single nucleotide variant not provided [RCV003068929] Chr9:732478 [GRCh38]
Chr9:732478 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2074A>G (p.Ile692Val) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV003134592]|Inborn genetic diseases [RCV003274166]|not provided [RCV003050209] Chr9:712840 [GRCh38]
Chr9:712840 [GRCh37]
Chr9:9p24.3
likely benign|uncertain significance
NM_015158.5(KANK1):c.2809A>G (p.Ile937Val) single nucleotide variant not provided [RCV002582383] Chr9:730161 [GRCh38]
Chr9:730161 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2903C>T (p.Thr968Ile) single nucleotide variant not provided [RCV003070339] Chr9:731164 [GRCh38]
Chr9:731164 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1026C>T (p.Gly342=) single nucleotide variant not provided [RCV002606719] Chr9:711792 [GRCh38]
Chr9:711792 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2281G>A (p.Val761Met) single nucleotide variant not provided [RCV002657753] Chr9:713047 [GRCh38]
Chr9:713047 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3050C>T (p.Ser1017Phe) single nucleotide variant not provided [RCV002583430] Chr9:732422 [GRCh38]
Chr9:732422 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.290G>C (p.Ser97Thr) single nucleotide variant Inborn genetic diseases [RCV002680239] Chr9:711056 [GRCh38]
Chr9:711056 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3245+16_3245+21del deletion not provided [RCV002586793] Chr9:732628..732633 [GRCh38]
Chr9:732628..732633 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.704T>C (p.Met235Thr) single nucleotide variant not provided [RCV002604647] Chr9:711470 [GRCh38]
Chr9:711470 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1678G>A (p.Val560Ile) single nucleotide variant Inborn genetic diseases [RCV003367968]|not provided [RCV003067940] Chr9:712444 [GRCh38]
Chr9:712444 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.380C>T (p.Thr127Ile) single nucleotide variant not provided [RCV002944086] Chr9:711146 [GRCh38]
Chr9:711146 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3911C>T (p.Ala1304Val) single nucleotide variant not provided [RCV002725523] Chr9:744504 [GRCh38]
Chr9:744504 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3246-13T>C single nucleotide variant not provided [RCV002585839] Chr9:734735 [GRCh38]
Chr9:734735 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1591A>G (p.Met531Val) single nucleotide variant not provided [RCV002612374] Chr9:712357 [GRCh38]
Chr9:712357 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1083G>A (p.Thr361=) single nucleotide variant not provided [RCV002612457] Chr9:711849 [GRCh38]
Chr9:711849 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3243G>C (p.Glu1081Asp) single nucleotide variant Inborn genetic diseases [RCV003215647] Chr9:732615 [GRCh38]
Chr9:732615 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1453A>T (p.Met485Leu) single nucleotide variant Inborn genetic diseases [RCV003193414] Chr9:712219 [GRCh38]
Chr9:712219 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3890A>T (p.Glu1297Val) single nucleotide variant Inborn genetic diseases [RCV003210879] Chr9:742398 [GRCh38]
Chr9:742398 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.717C>G (p.Ile239Met) single nucleotide variant Inborn genetic diseases [RCV003210668] Chr9:711483 [GRCh38]
Chr9:711483 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1573C>A (p.Gln525Lys) single nucleotide variant Inborn genetic diseases [RCV003191791] Chr9:712339 [GRCh38]
Chr9:712339 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3103G>A (p.Glu1035Lys) single nucleotide variant Inborn genetic diseases [RCV003214576] Chr9:732475 [GRCh38]
Chr9:732475 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3758T>G (p.Leu1253Arg) single nucleotide variant Inborn genetic diseases [RCV003199828] Chr9:742266 [GRCh38]
Chr9:742266 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2174A>C (p.Lys725Thr) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV003133771] Chr9:712940 [GRCh38]
Chr9:712940 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.580A>G (p.Ser194Gly) single nucleotide variant Inborn genetic diseases [RCV003198292] Chr9:711346 [GRCh38]
Chr9:711346 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.815A>C (p.Lys272Thr) single nucleotide variant Inborn genetic diseases [RCV003195273] Chr9:711581 [GRCh38]
Chr9:711581 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2435A>C (p.Gln812Pro) single nucleotide variant Inborn genetic diseases [RCV003287575] Chr9:713201 [GRCh38]
Chr9:713201 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.4033C>A (p.Pro1345Thr) single nucleotide variant Inborn genetic diseases [RCV003310012] Chr9:745209 [GRCh38]
Chr9:745209 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2223G>C (p.Leu741Phe) single nucleotide variant Inborn genetic diseases [RCV003364260] Chr9:712989 [GRCh38]
Chr9:712989 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3285A>C (p.Leu1095Phe) single nucleotide variant Inborn genetic diseases [RCV003373880] Chr9:734787 [GRCh38]
Chr9:734787 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.271T>A (p.Ser91Thr) single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV003333340] Chr9:711037 [GRCh38]
Chr9:711037 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1892G>A (p.Gly631Glu) single nucleotide variant Inborn genetic diseases [RCV003376118] Chr9:712658 [GRCh38]
Chr9:712658 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:314209-470461)x3 copy number gain not provided [RCV003484762] Chr9:314209..470461 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:416418-602890)x3 copy number gain not provided [RCV003484764] Chr9:416418..602890 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1800C>T (p.Cys600=) single nucleotide variant not provided [RCV003874318] Chr9:712566 [GRCh38]
Chr9:712566 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1051G>A (p.Glu351Lys) single nucleotide variant not provided [RCV003874498] Chr9:711817 [GRCh38]
Chr9:711817 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:203862-1470291)x1 copy number loss not provided [RCV003483044] Chr9:203862..1470291 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:479812-511756)x1 copy number loss not provided [RCV003483047] Chr9:479812..511756 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:254071-749833)x3 copy number gain not provided [RCV003484761] Chr9:254071..749833 [GRCh37]
Chr9:9p24.3
uncertain significance
GRCh37/hg19 9p24.3(chr9:341089-905937)x3 copy number gain not provided [RCV003484763] Chr9:341089..905937 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.603T>G (p.Gly201=) single nucleotide variant not provided [RCV003435676] Chr9:711369 [GRCh38]
Chr9:711369 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2118G>T (p.Gln706His) single nucleotide variant KANK1-related condition [RCV003427878] Chr9:712884 [GRCh38]
Chr9:712884 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2335A>G (p.Ile779Val) single nucleotide variant KANK1-related condition [RCV003406102] Chr9:713101 [GRCh38]
Chr9:713101 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3478G>A (p.Gly1160Ser) single nucleotide variant not provided [RCV003425597] Chr9:738429 [GRCh38]
Chr9:738429 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3334-3C>T single nucleotide variant not provided [RCV003435677] Chr9:738282 [GRCh38]
Chr9:738282 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1_2delinsTG (p.Met1Trp) indel KANK1-related condition [RCV003418915] Chr9:676973..676974 [GRCh38]
Chr9:676973..676974 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.3:c.3554_3556dupATG duplication KANK1-related condition [RCV003421046]   uncertain significance
NM_015158.5(KANK1):c.4003C>T (p.Pro1335Ser) single nucleotide variant not provided [RCV003435678] Chr9:745179 [GRCh38]
Chr9:745179 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.38-2535T>G single nucleotide variant not provided [RCV003435674] Chr9:708269 [GRCh38]
Chr9:708269 [GRCh37]
Chr9:9p24.3
benign
Single allele deletion not provided [RCV003448696] Chr9:204064..16456192 [GRCh37]
Chr9:9p24.3-22.3
pathogenic
NM_015158.5(KANK1):c.38-2A>T single nucleotide variant not provided [RCV003435675] Chr9:710802 [GRCh38]
Chr9:710802 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3237del (p.Arg1080fs) deletion not provided [RCV003696336] Chr9:732609 [GRCh38]
Chr9:732609 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2075T>C (p.Ile692Thr) single nucleotide variant not provided [RCV003715812] Chr9:712841 [GRCh38]
Chr9:712841 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2772G>C (p.Gln924His) single nucleotide variant not provided [RCV003696365] Chr9:730124 [GRCh38]
Chr9:730124 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3428T>C (p.Phe1143Ser) single nucleotide variant not provided [RCV003881548] Chr9:738379 [GRCh38]
Chr9:738379 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3897+1G>A single nucleotide variant not provided [RCV003831387] Chr9:742406 [GRCh38]
Chr9:742406 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3573C>G (p.His1191Gln) single nucleotide variant not provided [RCV003831643] Chr9:740811 [GRCh38]
Chr9:740811 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3640A>C (p.Met1214Leu) single nucleotide variant not provided [RCV003831644] Chr9:740878 [GRCh38]
Chr9:740878 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1448G>A (p.Arg483Gln) single nucleotide variant not provided [RCV003573219] Chr9:712214 [GRCh38]
Chr9:712214 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2967C>T (p.Gly989=) single nucleotide variant not provided [RCV003739966] Chr9:731228 [GRCh38]
Chr9:731228 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2241G>A (p.Gly747=) single nucleotide variant not provided [RCV003713640] Chr9:713007 [GRCh38]
Chr9:713007 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1152C>T (p.Ser384=) single nucleotide variant not provided [RCV003878331] Chr9:711918 [GRCh38]
Chr9:711918 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.206C>G (p.Pro69Arg) single nucleotide variant not provided [RCV003713924] Chr9:710972 [GRCh38]
Chr9:710972 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3723G>A (p.Ala1241=) single nucleotide variant not provided [RCV003545181] Chr9:742231 [GRCh38]
Chr9:742231 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1936G>A (p.Ala646Thr) single nucleotide variant not provided [RCV003880774] Chr9:712702 [GRCh38]
Chr9:712702 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3902G>A (p.Gly1301Asp) single nucleotide variant not provided [RCV003575955] Chr9:744495 [GRCh38]
Chr9:744495 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3997-19T>C single nucleotide variant not provided [RCV003881606] Chr9:745154 [GRCh38]
Chr9:745154 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.458A>G (p.His153Arg) single nucleotide variant not provided [RCV003576027] Chr9:711224 [GRCh38]
Chr9:711224 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3391G>C (p.Ala1131Pro) single nucleotide variant not provided [RCV003577989] Chr9:738342 [GRCh38]
Chr9:738342 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1782T>C (p.Ser594=) single nucleotide variant not provided [RCV003573456] Chr9:712548 [GRCh38]
Chr9:712548 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3759T>C (p.Leu1253=) single nucleotide variant not provided [RCV003661791] Chr9:742267 [GRCh38]
Chr9:742267 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3445G>C (p.Asp1149His) single nucleotide variant not provided [RCV003545410] Chr9:738396 [GRCh38]
Chr9:738396 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3090T>A (p.Tyr1030Ter) single nucleotide variant not provided [RCV003695976] Chr9:732462 [GRCh38]
Chr9:732462 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.969C>T (p.Ser323=) single nucleotide variant not provided [RCV003689753] Chr9:711735 [GRCh38]
Chr9:711735 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.792C>T (p.Arg264=) single nucleotide variant not provided [RCV003546216] Chr9:711558 [GRCh38]
Chr9:711558 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3333+3G>A single nucleotide variant not provided [RCV003544991] Chr9:734838 [GRCh38]
Chr9:734838 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1968C>A (p.Ser656Arg) single nucleotide variant not provided [RCV003876280] Chr9:712734 [GRCh38]
Chr9:712734 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.935C>T (p.Ser312Phe) single nucleotide variant not provided [RCV003659566] Chr9:711701 [GRCh38]
Chr9:711701 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1483G>A (p.Ala495Thr) single nucleotide variant not provided [RCV003811923] Chr9:712249 [GRCh38]
Chr9:712249 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3648T>C (p.Ile1216=) single nucleotide variant not provided [RCV003850259] Chr9:740886 [GRCh38]
Chr9:740886 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2970A>C (p.Ala990=) single nucleotide variant not provided [RCV003717995] Chr9:731231 [GRCh38]
Chr9:731231 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2200C>G (p.Arg734Gly) single nucleotide variant not provided [RCV003850594] Chr9:712966 [GRCh38]
Chr9:712966 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1508A>G (p.Lys503Arg) single nucleotide variant not provided [RCV003833300] Chr9:712274 [GRCh38]
Chr9:712274 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3020C>G (p.Ser1007Ter) single nucleotide variant not provided [RCV003580101] Chr9:732392 [GRCh38]
Chr9:732392 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.35C>T (p.Ser12Leu) single nucleotide variant not provided [RCV003559720] Chr9:677007 [GRCh38]
Chr9:677007 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3901G>A (p.Gly1301Ser) single nucleotide variant not provided [RCV003669815] Chr9:744494 [GRCh38]
Chr9:744494 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3737G>A (p.Arg1246Gln) single nucleotide variant not provided [RCV003726698] Chr9:742245 [GRCh38]
Chr9:742245 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.364C>A (p.Pro122Thr) single nucleotide variant not provided [RCV003850138] Chr9:711130 [GRCh38]
Chr9:711130 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1462C>G (p.Leu488Val) single nucleotide variant not provided [RCV003549756] Chr9:712228 [GRCh38]
Chr9:712228 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.103A>G (p.Thr35Ala) single nucleotide variant not provided [RCV003839187] Chr9:710869 [GRCh38]
Chr9:710869 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.144T>G (p.Tyr48Ter) single nucleotide variant not provided [RCV003669464] Chr9:710910 [GRCh38]
Chr9:710910 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1260G>A (p.Arg420=) single nucleotide variant not provided [RCV003672928] Chr9:712026 [GRCh38]
Chr9:712026 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1195C>T (p.Arg399Trp) single nucleotide variant KANK1-related condition [RCV003893503]|not provided [RCV003849793] Chr9:711961 [GRCh38]
Chr9:711961 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2220G>T (p.Thr740=) single nucleotide variant not provided [RCV003726767] Chr9:712986 [GRCh38]
Chr9:712986 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2917A>T (p.Thr973Ser) single nucleotide variant not provided [RCV003835869] Chr9:731178 [GRCh38]
Chr9:731178 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2702A>T (p.Asn901Ile) single nucleotide variant not provided [RCV003725703] Chr9:730054 [GRCh38]
Chr9:730054 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3732C>A (p.His1244Gln) single nucleotide variant not provided [RCV003559363] Chr9:742240 [GRCh38]
Chr9:742240 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3448G>A (p.Val1150Ile) single nucleotide variant not provided [RCV003816826] Chr9:738399 [GRCh38]
Chr9:738399 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.191A>G (p.Gln64Arg) single nucleotide variant not provided [RCV003839215] Chr9:710957 [GRCh38]
Chr9:710957 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3050C>G (p.Ser1017Cys) single nucleotide variant not provided [RCV003837862] Chr9:732422 [GRCh38]
Chr9:732422 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2414G>A (p.Gly805Glu) single nucleotide variant not provided [RCV003667686] Chr9:713180 [GRCh38]
Chr9:713180 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1485_1487del (p.Gly496del) deletion not provided [RCV003559611] Chr9:712251..712253 [GRCh38]
Chr9:712251..712253 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1304A>G (p.Asn435Ser) single nucleotide variant not provided [RCV003671625] Chr9:712070 [GRCh38]
Chr9:712070 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1625T>C (p.Val542Ala) single nucleotide variant not provided [RCV003666921] Chr9:712391 [GRCh38]
Chr9:712391 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2079G>T (p.Glu693Asp) single nucleotide variant not provided [RCV003559822] Chr9:712845 [GRCh38]
Chr9:712845 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.211G>A (p.Val71Met) single nucleotide variant not provided [RCV003548842] Chr9:710977 [GRCh38]
Chr9:710977 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3553+11T>C single nucleotide variant not provided [RCV003671346] Chr9:738515 [GRCh38]
Chr9:738515 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1119C>T (p.Asp373=) single nucleotide variant not provided [RCV003725567] Chr9:711885 [GRCh38]
Chr9:711885 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3006-9_3006-5del deletion not provided [RCV003666732] Chr9:732369..732373 [GRCh38]
Chr9:732369..732373 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3148C>T (p.His1050Tyr) single nucleotide variant not provided [RCV003665872] Chr9:732520 [GRCh38]
Chr9:732520 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.297CAA[1] (p.Asn100del) microsatellite not provided [RCV003559767] Chr9:711062..711064 [GRCh38]
Chr9:711062..711064 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2896+6T>G single nucleotide variant not provided [RCV003701824] Chr9:730254 [GRCh38]
Chr9:730254 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2980C>T (p.Leu994Phe) single nucleotide variant not provided [RCV003717996] Chr9:731241 [GRCh38]
Chr9:731241 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1250G>A (p.Arg417Lys) single nucleotide variant not provided [RCV003671682] Chr9:712016 [GRCh38]
Chr9:712016 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.302A>G (p.Lys101Arg) single nucleotide variant not provided [RCV003667370] Chr9:711068 [GRCh38]
Chr9:711068 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3690T>G (p.Ala1230=) single nucleotide variant not provided [RCV003716895] Chr9:740928 [GRCh38]
Chr9:740928 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.607G>A (p.Gly203Arg) single nucleotide variant not provided [RCV003672373] Chr9:711373 [GRCh38]
Chr9:711373 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2166C>T (p.Gly722=) single nucleotide variant not provided [RCV003837908] Chr9:712932 [GRCh38]
Chr9:712932 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2376C>G (p.Ala792=) single nucleotide variant not provided [RCV003665054] Chr9:713142 [GRCh38]
Chr9:713142 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2406C>T (p.Asp802=) single nucleotide variant not provided [RCV003836403] Chr9:713172 [GRCh38]
Chr9:713172 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2240G>A (p.Gly747Glu) single nucleotide variant not provided [RCV003668913] Chr9:713006 [GRCh38]
Chr9:713006 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3949G>T (p.Ala1317Ser) single nucleotide variant not provided [RCV003677095] Chr9:744542 [GRCh38]
Chr9:744542 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3244_3245del (p.Arg1082fs) microsatellite not provided [RCV003846018] Chr9:732610..732611 [GRCh38]
Chr9:732610..732611 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1558G>A (p.Val520Met) single nucleotide variant not provided [RCV003819748] Chr9:712324 [GRCh38]
Chr9:712324 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3508G>T (p.Val1170Leu) single nucleotide variant not provided [RCV003705384] Chr9:738459 [GRCh38]
Chr9:738459 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1699A>C (p.Asn567His) single nucleotide variant not provided [RCV003705630] Chr9:712465 [GRCh38]
Chr9:712465 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.685G>A (p.Ala229Thr) single nucleotide variant not provided [RCV003731196] Chr9:711451 [GRCh38]
Chr9:711451 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3525C>A (p.Phe1175Leu) single nucleotide variant not provided [RCV003844076] Chr9:738476 [GRCh38]
Chr9:738476 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2485C>T (p.Arg829Cys) single nucleotide variant not provided [RCV003705605] Chr9:713251 [GRCh38]
Chr9:713251 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.745T>C (p.Ser249Pro) single nucleotide variant not provided [RCV003843545] Chr9:711511 [GRCh38]
Chr9:711511 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3096T>C (p.Leu1032=) single nucleotide variant not provided [RCV003854217] Chr9:732468 [GRCh38]
Chr9:732468 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2640A>G (p.Ala880=) single nucleotide variant not provided [RCV003705869] Chr9:713406 [GRCh38]
Chr9:713406 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1325A>G (p.Glu442Gly) single nucleotide variant not provided [RCV003709880] Chr9:712091 [GRCh38]
Chr9:712091 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3398C>T (p.Pro1133Leu) single nucleotide variant not provided [RCV003728246] Chr9:738349 [GRCh38]
Chr9:738349 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3161A>C (p.Asn1054Thr) single nucleotide variant not provided [RCV003819403] Chr9:732533 [GRCh38]
Chr9:732533 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.551T>C (p.Leu184Pro) single nucleotide variant not provided [RCV003710064] Chr9:711317 [GRCh38]
Chr9:711317 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.37+9G>C single nucleotide variant not provided [RCV003683020] Chr9:677018 [GRCh38]
Chr9:677018 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.939G>C (p.Gln313His) single nucleotide variant not provided [RCV003683022] Chr9:711705 [GRCh38]
Chr9:711705 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3771G>C (p.Gly1257=) single nucleotide variant not provided [RCV003820671] Chr9:742279 [GRCh38]
Chr9:742279 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1842A>C (p.Thr614=) single nucleotide variant not provided [RCV003678516] Chr9:712608 [GRCh38]
Chr9:712608 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1317C>T (p.Ser439=) single nucleotide variant not provided [RCV003867481] Chr9:712083 [GRCh38]
Chr9:712083 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.623C>G (p.Ala208Gly) single nucleotide variant not provided [RCV003683705] Chr9:711389 [GRCh38]
Chr9:711389 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.638A>G (p.Gln213Arg) single nucleotide variant KANK1-related condition [RCV003919277]|not provided [RCV003554223] Chr9:711404 [GRCh38]
Chr9:711404 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1535T>C (p.Phe512Ser) single nucleotide variant not provided [RCV003722710] Chr9:712301 [GRCh38]
Chr9:712301 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.470C>G (p.Thr157Arg) single nucleotide variant not provided [RCV003554316] Chr9:711236 [GRCh38]
Chr9:711236 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3649G>A (p.Val1217Met) single nucleotide variant not provided [RCV003845466] Chr9:740887 [GRCh38]
Chr9:740887 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3006-13A>C single nucleotide variant not provided [RCV003843889] Chr9:732365 [GRCh38]
Chr9:732365 [GRCh37]
Chr9:9p24.3
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
NM_015158.5(KANK1):c.14C>G (p.Thr5Arg) single nucleotide variant not provided [RCV003872080] Chr9:676986 [GRCh38]
Chr9:676986 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1413C>T (p.Arg471=) single nucleotide variant not provided [RCV003675353] Chr9:712179 [GRCh38]
Chr9:712179 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1723G>A (p.Val575Met) single nucleotide variant not provided [RCV003860610] Chr9:712489 [GRCh38]
Chr9:712489 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1739G>A (p.Arg580Gln) single nucleotide variant not provided [RCV003553100] Chr9:712505 [GRCh38]
Chr9:712505 [GRCh37]
Chr9:9p24.3
uncertain significance
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
NM_015158.5(KANK1):c.1447C>T (p.Arg483Trp) single nucleotide variant not provided [RCV003678161] Chr9:712213 [GRCh38]
Chr9:712213 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2713T>C (p.Tyr905His) single nucleotide variant not provided [RCV003718783] Chr9:730065 [GRCh38]
Chr9:730065 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1205C>T (p.Ala402Val) single nucleotide variant not provided [RCV003685585] Chr9:711971 [GRCh38]
Chr9:711971 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.38-16T>G single nucleotide variant not provided [RCV003719009] Chr9:710788 [GRCh38]
Chr9:710788 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.140A>G (p.Lys47Arg) single nucleotide variant not provided [RCV003868552] Chr9:710906 [GRCh38]
Chr9:710906 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3616G>A (p.Ala1206Thr) single nucleotide variant not provided [RCV003824320] Chr9:740854 [GRCh38]
Chr9:740854 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3697-10C>A single nucleotide variant not provided [RCV003719937] Chr9:742195 [GRCh38]
Chr9:742195 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3932C>T (p.Ala1311Val) single nucleotide variant not provided [RCV003674506] Chr9:744525 [GRCh38]
Chr9:744525 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.506G>C (p.Arg169Thr) single nucleotide variant not provided [RCV003820867] Chr9:711272 [GRCh38]
Chr9:711272 [GRCh37]
Chr9:9p24.3
uncertain significance
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_015158.5(KANK1):c.2236T>G (p.Ser746Ala) single nucleotide variant not provided [RCV003721415] Chr9:713002 [GRCh38]
Chr9:713002 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.984C>T (p.Asn328=) single nucleotide variant not provided [RCV003720584] Chr9:711750 [GRCh38]
Chr9:711750 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.566G>A (p.Gly189Asp) single nucleotide variant not provided [RCV003737819] Chr9:711332 [GRCh38]
Chr9:711332 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3246-13T>A single nucleotide variant not provided [RCV003542005] Chr9:734735 [GRCh38]
Chr9:734735 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.216A>G (p.Pro72=) single nucleotide variant not provided [RCV003677781] Chr9:710982 [GRCh38]
Chr9:710982 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3681T>C (p.Asn1227=) single nucleotide variant not provided [RCV003708311] Chr9:740919 [GRCh38]
Chr9:740919 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2199G>A (p.Thr733=) single nucleotide variant not provided [RCV003848810] Chr9:712965 [GRCh38]
Chr9:712965 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3631G>A (p.Glu1211Lys) single nucleotide variant not provided [RCV003848812] Chr9:740869 [GRCh38]
Chr9:740869 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3548A>T (p.Asp1183Val) single nucleotide variant not provided [RCV003679971] Chr9:738499 [GRCh38]
Chr9:738499 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1210G>T (p.Gly404Cys) single nucleotide variant not provided [RCV003682735] Chr9:711976 [GRCh38]
Chr9:711976 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2547A>G (p.Ala849=) single nucleotide variant not provided [RCV003865848] Chr9:713313 [GRCh38]
Chr9:713313 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1851G>A (p.Lys617=) single nucleotide variant not provided [RCV003564584] Chr9:712617 [GRCh38]
Chr9:712617 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1353T>C (p.Ala451=) single nucleotide variant not provided [RCV003726955] Chr9:712119 [GRCh38]
Chr9:712119 [GRCh37]
Chr9:9p24.3
benign
NM_015158.5(KANK1):c.2086A>C (p.Thr696Pro) single nucleotide variant not provided [RCV003564585] Chr9:712852 [GRCh38]
Chr9:712852 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.758C>G (p.Thr253Ser) single nucleotide variant not provided [RCV003729601] Chr9:711524 [GRCh38]
Chr9:711524 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.985G>A (p.Ala329Thr) single nucleotide variant not provided [RCV003732379] Chr9:711751 [GRCh38]
Chr9:711751 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1277C>G (p.Ala426Gly) single nucleotide variant not provided [RCV003678152] Chr9:712043 [GRCh38]
Chr9:712043 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3333+17A>G single nucleotide variant not provided [RCV003866314] Chr9:734852 [GRCh38]
Chr9:734852 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.2322C>T (p.Leu774=) single nucleotide variant KANK1-related condition [RCV003899162] Chr9:713088 [GRCh38]
Chr9:713088 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1794C>T (p.Ser598=) single nucleotide variant KANK1-related condition [RCV003977192] Chr9:712560 [GRCh38]
Chr9:712560 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.183G>A (p.Leu61=) single nucleotide variant KANK1-related condition [RCV003961474] Chr9:710949 [GRCh38]
Chr9:710949 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3507C>T (p.Ser1169=) single nucleotide variant KANK1-related condition [RCV003961545] Chr9:738458 [GRCh38]
Chr9:738458 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.1915G>A (p.Val639Ile) single nucleotide variant KANK1-related condition [RCV003951731] Chr9:712681 [GRCh38]
Chr9:712681 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.*8C>G single nucleotide variant KANK1-related condition [RCV003962251] Chr9:745243 [GRCh38]
Chr9:745243 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.819C>T (p.Arg273=) single nucleotide variant KANK1-related condition [RCV003951374] Chr9:711585 [GRCh38]
Chr9:711585 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3567G>C (p.Val1189=) single nucleotide variant KANK1-related condition [RCV003927091] Chr9:740805 [GRCh38]
Chr9:740805 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3133G>A (p.Gly1045Arg) single nucleotide variant KANK1-related condition [RCV003959062] Chr9:732505 [GRCh38]
Chr9:732505 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1576A>T (p.Met526Leu) single nucleotide variant KANK1-related condition [RCV003899258] Chr9:712342 [GRCh38]
Chr9:712342 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3707C>T (p.Thr1236Met) single nucleotide variant KANK1-related condition [RCV003897048] Chr9:742215 [GRCh38]
Chr9:742215 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.1561C>A (p.Gln521Lys) single nucleotide variant KANK1-related condition [RCV003896996] Chr9:712327 [GRCh38]
Chr9:712327 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3172T>C (p.Leu1058=) single nucleotide variant not provided [RCV002639579] Chr9:732544 [GRCh38]
Chr9:732544 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.3477C>G (p.Asp1159Glu) single nucleotide variant not provided [RCV002705825] Chr9:738428 [GRCh38]
Chr9:738428 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2884G>A (p.Ala962Thr) single nucleotide variant not provided [RCV002638960] Chr9:730236 [GRCh38]
Chr9:730236 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2817C>T (p.Ser939=) single nucleotide variant not provided [RCV002933668] Chr9:730169 [GRCh38]
Chr9:730169 [GRCh37]
Chr9:9p24.3
likely benign
NM_015158.5(KANK1):c.452A>C (p.Asn151Thr) single nucleotide variant not provided [RCV002792073] Chr9:711218 [GRCh38]
Chr9:711218 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.2074A>C (p.Ile692Leu) single nucleotide variant not provided [RCV002589618] Chr9:712840 [GRCh38]
Chr9:712840 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.705G>A (p.Met235Ile) single nucleotide variant Inborn genetic diseases [RCV003177949] Chr9:711471 [GRCh38]
Chr9:711471 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.4040A>T (p.His1347Leu) single nucleotide variant Inborn genetic diseases [RCV003212695] Chr9:745216 [GRCh38]
Chr9:745216 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3333+1G>A single nucleotide variant Cerebral palsy, spastic quadriplegic, 2 [RCV003340797] Chr9:734836 [GRCh38]
Chr9:734836 [GRCh37]
Chr9:9p24.3
uncertain significance
NM_015158.5(KANK1):c.3058G>A (p.Glu1020Lys) single nucleotide variant Inborn genetic diseases [RCV003358567]|not provided [RCV003777515] Chr9:732430 [GRCh38]
Chr9:732430 [GRCh37]
Chr9:9p24.3
uncertain significance
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
NM_015158.5(KANK1):c.2724G>C (p.Lys908Asn) single nucleotide variant KANK1-related condition [RCV003982107] Chr9:730076 [GRCh38]
Chr9:730076 [GRCh37]
Chr9:9p24.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2843
Count of miRNA genes:869
Interacting mature miRNAs:1066
Transcripts:ENST00000354485, ENST00000382286, ENST00000382289, ENST00000382293, ENST00000382297, ENST00000382303, ENST00000467541, ENST00000475690, ENST00000489369
Prediction methods: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.

Markers in Region
D9S1858  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379697,027 - 697,274UniSTSGRCh37
Build 369687,027 - 687,274RGDNCBI36
Celera9614,113 - 614,348RGD
Cytogenetic Map9p24.3UniSTS
HuRef9648,879 - 649,114UniSTS
Marshfield Genetic Map90.0UniSTS
Marshfield Genetic Map9 RGD
Genethon Genetic Map90.0UniSTS
TNG Radiation Hybrid Map9137.0UniSTS
deCODE Assembly Map90.26UniSTS
GeneMap99-GB4 RH Map913.24UniSTS
Whitehead-YAC Contig Map9 UniSTS
HSC2FF032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379745,827 - 746,026UniSTSGRCh37
Build 369735,827 - 736,026RGDNCBI36
Celera9662,341 - 662,540RGD
Cytogenetic Map9p24.3UniSTS
HuRef9697,497 - 697,696UniSTS
GeneMap99-GB4 RH Map914.65UniSTS
Whitehead-RH Map928.0UniSTS
A009C13  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379723,731 - 723,934UniSTSGRCh37
Build 369713,731 - 713,934RGDNCBI36
Celera9640,242 - 640,445RGD
Cytogenetic Map9p24.3UniSTS
HuRef9675,405 - 675,608UniSTS
GeneMap99-GB4 RH Map911.53UniSTS
RH118407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379677,013 - 677,341UniSTSGRCh37
Build 369667,013 - 667,341RGDNCBI36
Celera9594,089 - 594,417RGD
Cytogenetic Map9p24.3UniSTS
HuRef9628,855 - 629,183UniSTS
TNG Radiation Hybrid Map9126.0UniSTS
SHGC-79801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379691,954 - 692,145UniSTSGRCh37
Build 369681,954 - 682,145RGDNCBI36
Celera9609,041 - 609,234RGD
Cytogenetic Map9p24.3UniSTS
HuRef9643,807 - 644,000UniSTS
TNG Radiation Hybrid Map9137.0UniSTS
D8S1344E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371739,847,593 - 39,847,772UniSTSGRCh37
GRCh379660,851 - 661,031UniSTSGRCh37
Build 369650,851 - 651,031RGDNCBI36
Celera1736,500,820 - 36,500,999UniSTS
Celera9577,892 - 578,072RGD
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9p24.3UniSTS
HuRef1735,610,318 - 35,610,497UniSTS
HuRef9612,656 - 612,836UniSTS
SHGC-106538  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379593,290 - 593,626UniSTSGRCh37
Build 369583,290 - 583,626RGDNCBI36
Celera9510,363 - 510,698RGD
Cytogenetic Map9p24.3UniSTS
HuRef9545,090 - 545,425UniSTS
TNG Radiation Hybrid Map965.0UniSTS
SHGC-142384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379629,226 - 629,558UniSTSGRCh37
Build 369619,226 - 619,558RGDNCBI36
Celera9546,277 - 546,609RGD
Cytogenetic Map9p24.3UniSTS
HuRef9581,000 - 581,332UniSTS
TNG Radiation Hybrid Map9107.0UniSTS
SHGC-150818  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379516,859 - 516,981UniSTSGRCh37
Build 369506,859 - 506,981RGDNCBI36
Celera9433,870 - 433,992RGD
Cytogenetic Map9p24.3UniSTS
HuRef9468,600 - 468,722UniSTS
TNG Radiation Hybrid Map932.0UniSTS
SHGC-146309  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379646,158 - 646,456UniSTSGRCh37
Build 369636,158 - 636,456RGDNCBI36
Celera9563,209 - 563,507RGD
Cytogenetic Map9p24.3UniSTS
HuRef9597,981 - 598,279UniSTS
TNG Radiation Hybrid Map9115.0UniSTS
SHGC-146489  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379695,088 - 695,411UniSTSGRCh37
Build 369685,088 - 685,411RGDNCBI36
Celera9612,170 - 612,493RGD
Cytogenetic Map9p24.3UniSTS
HuRef9646,936 - 647,259UniSTS
TNG Radiation Hybrid Map9137.0UniSTS
RH48945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379557,598 - 557,726UniSTSGRCh37
Build 369547,598 - 547,726RGDNCBI36
Celera9474,607 - 474,735RGD
Cytogenetic Map9p24.3UniSTS
HuRef9509,334 - 509,462UniSTS
GeneMap99-GB4 RH Map92.48UniSTS
RH70155  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379738,307 - 738,465UniSTSGRCh37
Build 369728,307 - 728,465RGDNCBI36
Celera9654,818 - 654,976RGD
Celera9923 - 1,081UniSTS
Cytogenetic Map9p24.3UniSTS
HuRef9689,980 - 690,138UniSTS
GeneMap99-GB4 RH Map914.64UniSTS
SHGC-155656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379613,031 - 613,348UniSTSGRCh37
Build 369603,031 - 603,348RGDNCBI36
Celera9530,083 - 530,400RGD
Cytogenetic Map9p24.3UniSTS
HuRef9564,807 - 565,124UniSTS
TNG Radiation Hybrid Map983.0UniSTS
STS-AA004761  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379550,367 - 550,570UniSTSGRCh37
Build 369540,367 - 540,570RGDNCBI36
Celera9467,378 - 467,581RGD
Cytogenetic Map9p24.3UniSTS
HuRef9502,105 - 502,308UniSTS
GeneMap99-GB4 RH Map914.64UniSTS
WI-16217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379745,605 - 745,729UniSTSGRCh37
Build 369735,605 - 735,729RGDNCBI36
Celera9662,119 - 662,243RGD
Cytogenetic Map9p24.3UniSTS
HuRef9697,275 - 697,399UniSTS
GeneMap99-GB4 RH Map916.61UniSTS
Whitehead-RH Map928.0UniSTS
L17971  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic MapXq22UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map20p11.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map9q34.13UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D5S1597E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map6q16.2UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
G32411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379723,731 - 723,934UniSTSGRCh37
Celera9640,242 - 640,445UniSTS
Cytogenetic Map9p24.3UniSTS
HuRef9675,405 - 675,608UniSTS
RH45283  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9p24.3UniSTS
HuRef9636,478 - 636,684UniSTS
GeneMap99-GB4 RH Map915.07UniSTS


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 2020 2077 1371 565 313 405 4132 1790 2698 307 1324 1149 164 1189 2605 3
Low 418 385 355 59 956 60 224 404 1014 110 130 451 10 1 15 183 1 2
Below cutoff 529 681 2 22 2 6 11 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001354344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_148869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014525 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054362500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB205106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB205107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB205108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB205109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB205110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB205111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB205112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB205113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL039663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL161725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL392089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832454 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW296327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC037495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP287167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648931 (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
  D79994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA401115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA457624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  T99533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000354485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,703 - 734,129 (+)Ensembl
RefSeq Acc Id: ENST00000382286   ⟹   ENSP00000371723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9693,456 - 746,097 (+)Ensembl
RefSeq Acc Id: ENST00000382289   ⟹   ENSP00000371726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9676,918 - 746,097 (+)Ensembl
RefSeq Acc Id: ENST00000382293   ⟹   ENSP00000371730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9706,889 - 746,103 (+)Ensembl
RefSeq Acc Id: ENST00000382297   ⟹   ENSP00000371734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,695 - 746,103 (+)Ensembl
RefSeq Acc Id: ENST00000382303   ⟹   ENSP00000371740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9470,291 - 746,105 (+)Ensembl
RefSeq Acc Id: ENST00000441028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9547,317 - 549,531 (+)Ensembl
RefSeq Acc Id: ENST00000444793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9547,318 - 549,531 (+)Ensembl
RefSeq Acc Id: ENST00000467541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9470,592 - 484,491 (+)Ensembl
RefSeq Acc Id: ENST00000475690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9471,467 - 476,769 (+)Ensembl
RefSeq Acc Id: ENST00000489369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,702 - 746,103 (+)Ensembl
RefSeq Acc Id: ENST00000619269   ⟹   ENSP00000477725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,702 - 746,102 (+)Ensembl
RefSeq Acc Id: ENST00000654035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9547,156 - 549,967 (+)Ensembl
RefSeq Acc Id: ENST00000662822
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9547,135 - 549,528 (+)Ensembl
RefSeq Acc Id: ENST00000667410
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9547,138 - 549,532 (+)Ensembl
RefSeq Acc Id: ENST00000674102   ⟹   ENSP00000501167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,695 - 746,103 (+)Ensembl
RefSeq Acc Id: ENST00000685049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9734,163 - 746,070 (+)Ensembl
RefSeq Acc Id: ENST00000685380   ⟹   ENSP00000508606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9706,684 - 746,097 (+)Ensembl
RefSeq Acc Id: ENST00000685481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9693,344 - 734,090 (+)Ensembl
RefSeq Acc Id: ENST00000685590   ⟹   ENSP00000510487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9706,684 - 746,092 (+)Ensembl
RefSeq Acc Id: ENST00000685882
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,730 - 549,529 (+)Ensembl
RefSeq Acc Id: ENST00000685947   ⟹   ENSP00000508833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,733 - 746,099 (+)Ensembl
RefSeq Acc Id: ENST00000686420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9538,437 - 549,294 (+)Ensembl
RefSeq Acc Id: ENST00000686846
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9706,684 - 734,090 (+)Ensembl
RefSeq Acc Id: ENST00000687662   ⟹   ENSP00000509160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9706,684 - 746,090 (+)Ensembl
RefSeq Acc Id: ENST00000687796   ⟹   ENSP00000510058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9693,339 - 746,099 (+)Ensembl
RefSeq Acc Id: ENST00000687982
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,219 - 587,414 (+)Ensembl
RefSeq Acc Id: ENST00000688039   ⟹   ENSP00000510133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9693,703 - 746,092 (+)Ensembl
RefSeq Acc Id: ENST00000688321
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9734,111 - 746,090 (+)Ensembl
RefSeq Acc Id: ENST00000688567
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9706,684 - 734,096 (+)Ensembl
RefSeq Acc Id: ENST00000688973
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9471,262 - 587,414 (+)Ensembl
RefSeq Acc Id: ENST00000689126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9470,295 - 475,457 (+)Ensembl
RefSeq Acc Id: ENST00000689214   ⟹   ENSP00000508779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9706,684 - 746,097 (+)Ensembl
RefSeq Acc Id: ENST00000689779   ⟹   ENSP00000508451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,702 - 746,099 (+)Ensembl
RefSeq Acc Id: ENST00000689926   ⟹   ENSP00000510088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,695 - 746,092 (+)Ensembl
RefSeq Acc Id: ENST00000690297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9470,295 - 492,793 (+)Ensembl
RefSeq Acc Id: ENST00000690348   ⟹   ENSP00000509448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9693,689 - 746,092 (+)Ensembl
RefSeq Acc Id: ENST00000690372   ⟹   ENSP00000509433
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9686,764 - 746,099 (+)Ensembl
RefSeq Acc Id: ENST00000691319   ⟹   ENSP00000509034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,680 - 746,092 (+)Ensembl
RefSeq Acc Id: ENST00000691645   ⟹   ENSP00000508795
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9706,684 - 746,092 (+)Ensembl
RefSeq Acc Id: ENST00000692130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,702 - 746,097 (+)Ensembl
RefSeq Acc Id: ENST00000692174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,704 - 594,890 (+)Ensembl
RefSeq Acc Id: ENST00000692345   ⟹   ENSP00000508925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9693,763 - 746,104 (+)Ensembl
RefSeq Acc Id: ENST00000692757   ⟹   ENSP00000510316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9693,626 - 746,090 (+)Ensembl
RefSeq Acc Id: ENST00000693021   ⟹   ENSP00000509347
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9706,684 - 746,092 (+)Ensembl
RefSeq Acc Id: ENST00000693088   ⟹   ENSP00000510671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9706,684 - 746,090 (+)Ensembl
RefSeq Acc Id: ENST00000693143   ⟹   ENSP00000510515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9706,684 - 746,092 (+)Ensembl
RefSeq Acc Id: ENST00000693552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9504,718 - 596,997 (+)Ensembl
RefSeq Acc Id: ENST00000693656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9686,787 - 734,096 (+)Ensembl
RefSeq Acc Id: ENST00000693668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9470,298 - 475,465 (+)Ensembl
RefSeq Acc Id: NM_001256876   ⟹   NP_001243805
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
GRCh379470,294 - 746,106 (+)NCBI
HuRef9422,063 - 697,776 (+)NCBI
CHM1_19469,730 - 745,633 (+)NCBI
T2T-CHM13v2.09469,752 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256877   ⟹   NP_001243806
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
GRCh379470,294 - 746,106 (+)NCBI
HuRef9422,063 - 697,776 (+)NCBI
CHM1_19504,129 - 745,633 (+)NCBI
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354331   ⟹   NP_001341260
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354332   ⟹   NP_001341261
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354333   ⟹   NP_001341262
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354334   ⟹   NP_001341263
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354335   ⟹   NP_001341264
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389686,764 - 746,103 (+)NCBI
T2T-CHM13v2.09686,250 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354336   ⟹   NP_001341265
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389686,764 - 746,103 (+)NCBI
T2T-CHM13v2.09686,250 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354337   ⟹   NP_001341266
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389693,680 - 746,103 (+)NCBI
T2T-CHM13v2.09693,173 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354338   ⟹   NP_001341267
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389693,680 - 746,103 (+)NCBI
T2T-CHM13v2.09693,173 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354339   ⟹   NP_001341268
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389693,680 - 746,103 (+)NCBI
T2T-CHM13v2.09693,173 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354340   ⟹   NP_001341269
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389693,680 - 746,103 (+)NCBI
T2T-CHM13v2.09693,173 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354341   ⟹   NP_001341270
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389707,053 - 746,103 (+)NCBI
T2T-CHM13v2.09706,533 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354342   ⟹   NP_001341271
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389707,053 - 746,103 (+)NCBI
T2T-CHM13v2.09706,533 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354343   ⟹   NP_001341272
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389707,053 - 746,103 (+)NCBI
T2T-CHM13v2.09706,533 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001354344   ⟹   NP_001341273
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389707,053 - 746,103 (+)NCBI
T2T-CHM13v2.09706,533 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_015158   ⟹   NP_055973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
GRCh379470,294 - 746,106 (+)NCBI
Build 369494,703 - 736,103 (+)NCBI Archive
HuRef9422,063 - 697,776 (+)NCBI
CHM1_19504,129 - 745,633 (+)NCBI
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153186   ⟹   NP_694856
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389707,053 - 746,103 (+)NCBI
GRCh379470,294 - 746,106 (+)NCBI
Build 369696,896 - 736,103 (+)NCBI Archive
HuRef9422,063 - 697,776 (+)NCBI
CHM1_19706,605 - 745,633 (+)NCBI
T2T-CHM13v2.09706,533 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: NR_148869
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389707,053 - 746,103 (+)NCBI
T2T-CHM13v2.09706,533 - 745,414 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447463   ⟹   XP_024303231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447465   ⟹   XP_024303233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447466   ⟹   XP_024303234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389547,117 - 746,103 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447467   ⟹   XP_024303235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389653,262 - 746,103 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423040   ⟹   XP_047278996
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423041   ⟹   XP_047278997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423042   ⟹   XP_047278998
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423043   ⟹   XP_047278999
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423044   ⟹   XP_047279000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423045   ⟹   XP_047279001
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423046   ⟹   XP_047279002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389661,999 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423047   ⟹   XP_047279003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423048   ⟹   XP_047279004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423049   ⟹   XP_047279005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423050   ⟹   XP_047279006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423051   ⟹   XP_047279007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423052   ⟹   XP_047279008
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423053   ⟹   XP_047279009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423054   ⟹   XP_047279010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389539,675 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423055   ⟹   XP_047279011
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389539,675 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423056   ⟹   XP_047279012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423057   ⟹   XP_047279013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,023 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423058   ⟹   XP_047279014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423059   ⟹   XP_047279015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423060   ⟹   XP_047279016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423061   ⟹   XP_047279017
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423062   ⟹   XP_047279018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423063   ⟹   XP_047279019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389653,262 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423064   ⟹   XP_047279020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389661,999 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423065   ⟹   XP_047279021
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389539,675 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423066   ⟹   XP_047279022
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423067   ⟹   XP_047279023
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423068   ⟹   XP_047279024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423069   ⟹   XP_047279025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423070   ⟹   XP_047279026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389661,999 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423071   ⟹   XP_047279027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,695 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423072   ⟹   XP_047279028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389661,999 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423073   ⟹   XP_047279029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423074   ⟹   XP_047279030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389683,046 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423075   ⟹   XP_047279031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389683,046 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423076   ⟹   XP_047279032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389683,046 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423077   ⟹   XP_047279033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389683,046 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423078   ⟹   XP_047279034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389707,053 - 746,103 (+)NCBI
RefSeq Acc Id: XM_047423079   ⟹   XP_047279035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389683,046 - 736,491 (+)NCBI
RefSeq Acc Id: XM_054362460   ⟹   XP_054218435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09469,752 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362461   ⟹   XP_054218436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362462   ⟹   XP_054218437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362463   ⟹   XP_054218438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09469,754 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362464   ⟹   XP_054218439
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362465   ⟹   XP_054218440
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09545,494 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362466   ⟹   XP_054218441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09652,604 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362467   ⟹   XP_054218442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09661,428 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362468   ⟹   XP_054218443
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09470,056 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362469   ⟹   XP_054218444
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09642,332 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362470   ⟹   XP_054218445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362471   ⟹   XP_054218446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09609,450 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362472   ⟹   XP_054218447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362473   ⟹   XP_054218448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362474   ⟹   XP_054218449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09581,727 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362475   ⟹   XP_054218450
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362476   ⟹   XP_054218451
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09503,480 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362477   ⟹   XP_054218452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09503,519 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362478   ⟹   XP_054218453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09472,658 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362479   ⟹   XP_054218454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09610,943 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362480   ⟹   XP_054218455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362481   ⟹   XP_054218456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362482   ⟹   XP_054218457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09652,572 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362483   ⟹   XP_054218458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09507,835 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362484   ⟹   XP_054218459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09661,428 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362485   ⟹   XP_054218460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09472,651 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362486   ⟹   XP_054218461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09610,943 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362487   ⟹   XP_054218462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362488   ⟹   XP_054218463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362489   ⟹   XP_054218464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09642,251 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362490   ⟹   XP_054218465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09507,835 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362491   ⟹   XP_054218466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09661,428 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362492   ⟹   XP_054218467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09504,152 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362493   ⟹   XP_054218468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09661,428 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362494   ⟹   XP_054218469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09610,943 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362495   ⟹   XP_054218470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09682,497 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362496   ⟹   XP_054218471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09682,493 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362497   ⟹   XP_054218472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09682,494 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362498   ⟹   XP_054218473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09682,490 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362499   ⟹   XP_054218474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09706,533 - 745,414 (+)NCBI
RefSeq Acc Id: XM_054362500   ⟹   XP_054218475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09682,484 - 735,813 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001243805 (Get FASTA)   NCBI Sequence Viewer  
  NP_001243806 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341260 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341261 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341262 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341263 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341264 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341265 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341266 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341267 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341268 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341269 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341270 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341271 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341272 (Get FASTA)   NCBI Sequence Viewer  
  NP_001341273 (Get FASTA)   NCBI Sequence Viewer  
  NP_055973 (Get FASTA)   NCBI Sequence Viewer  
  NP_694856 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303231 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303233 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303234 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303235 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278996 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278997 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278998 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278999 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279000 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279001 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279002 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279003 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279004 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279005 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279006 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279007 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279008 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279009 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279010 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279011 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279012 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279013 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279014 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279015 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279016 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279017 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279018 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279019 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279020 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279021 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279022 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279023 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279024 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279025 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279026 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279027 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279028 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279029 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279030 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279031 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279032 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279033 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279034 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279035 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218435 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218436 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218437 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218438 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218439 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218440 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218441 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218442 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218443 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218444 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218445 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218446 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218447 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218448 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218449 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218450 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218451 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218452 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218453 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218454 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218455 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218456 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218457 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218458 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218459 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218460 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218461 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218462 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218463 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218464 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218465 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218466 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218467 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218468 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218469 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218470 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218471 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218472 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218473 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218474 (Get FASTA)   NCBI Sequence Viewer  
  XP_054218475 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH20040 (Get FASTA)   NCBI Sequence Viewer  
  AAH37495 (Get FASTA)   NCBI Sequence Viewer  
  AAH38116 (Get FASTA)   NCBI Sequence Viewer  
  BAA11489 (Get FASTA)   NCBI Sequence Viewer  
  BAD97395 (Get FASTA)   NCBI Sequence Viewer  
  BAD97396 (Get FASTA)   NCBI Sequence Viewer  
  BAD97397 (Get FASTA)   NCBI Sequence Viewer  
  BAD97398 (Get FASTA)   NCBI Sequence Viewer  
  BAD97399 (Get FASTA)   NCBI Sequence Viewer  
  BAF82717 (Get FASTA)   NCBI Sequence Viewer  
  BAF85678 (Get FASTA)   NCBI Sequence Viewer  
  CAD90003 (Get FASTA)   NCBI Sequence Viewer  
  CAH56292 (Get FASTA)   NCBI Sequence Viewer  
  EAW58821 (Get FASTA)   NCBI Sequence Viewer  
  EAW58822 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000371723.4
  ENSP00000371726.3
  ENSP00000371730
  ENSP00000371730.3
  ENSP00000371734
  ENSP00000371734.2
  ENSP00000371740
  ENSP00000371740.1
  ENSP00000477725.2
  ENSP00000501167.1
  ENSP00000508451
  ENSP00000508451.1
  ENSP00000508606
  ENSP00000508606.1
  ENSP00000508779.1
  ENSP00000508795.1
  ENSP00000508833
  ENSP00000508833.1
  ENSP00000508925.1
  ENSP00000509034
  ENSP00000509034.1
  ENSP00000509160.1
  ENSP00000509347
  ENSP00000509347.1
  ENSP00000509433
  ENSP00000509433.1
  ENSP00000509448.1
  ENSP00000510058
  ENSP00000510058.1
  ENSP00000510088
  ENSP00000510088.1
  ENSP00000510133.1
  ENSP00000510316
  ENSP00000510316.1
  ENSP00000510487.1
  ENSP00000510515
  ENSP00000510515.1
  ENSP00000510671.1
GenBank Protein Q14678 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_055973   ⟸   NM_015158
- Peptide Label: isoform L
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   A8KAC4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_694856   ⟸   NM_153186
- Peptide Label: isoform S
- UniProtKB: Q6PIB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243805   ⟸   NM_001256876
- Peptide Label: isoform L
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   A8KAC4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001243806   ⟸   NM_001256877
- Peptide Label: isoform L
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   A8KAC4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341263   ⟸   NM_001354334
- Peptide Label: isoform L
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot),   A8KAC4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341262   ⟸   NM_001354333
- Peptide Label: isoform S
- UniProtKB: Q6PIB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341260   ⟸   NM_001354331
- Peptide Label: isoform c
- UniProtKB: A0A8I5KT40 (UniProtKB/TrEMBL),   A8KAC4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341261   ⟸   NM_001354332
- Peptide Label: isoform d
- UniProtKB: A8KAC4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303231   ⟸   XM_024447463
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot),   A8KAC4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303233   ⟸   XM_024447465
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot),   A8KAC4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303234   ⟸   XM_024447466
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot),   A8KAC4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024303235   ⟸   XM_024447467
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot),   A8KAC4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341264   ⟸   NM_001354335
- Peptide Label: isoform S
- UniProtKB: Q6PIB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341265   ⟸   NM_001354336
- Peptide Label: isoform e
- UniProtKB: A0A8I5KRP2 (UniProtKB/TrEMBL),   A0A8I5KUM3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341266   ⟸   NM_001354337
- Peptide Label: isoform S
- UniProtKB: Q6PIB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341268   ⟸   NM_001354339
- Peptide Label: isoform g
- UniProtKB: A0A8I5KZ49 (UniProtKB/TrEMBL),   A0A8I5KUD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341267   ⟸   NM_001354338
- Peptide Label: isoform f
- UniProtKB: Q6PIB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341269   ⟸   NM_001354340
- Peptide Label: isoform f
- UniProtKB: Q6PIB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341270   ⟸   NM_001354341
- Peptide Label: isoform S
- UniProtKB: Q6PIB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341272   ⟸   NM_001354343
- Peptide Label: isoform g
- UniProtKB: A0A8I5KZ49 (UniProtKB/TrEMBL),   A0A8I5KUD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341271   ⟸   NM_001354342
- Peptide Label: isoform g
- UniProtKB: A0A8I5KZ49 (UniProtKB/TrEMBL),   A0A8I5KUD8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001341273   ⟸   NM_001354344
- Peptide Label: isoform f
- UniProtKB: Q6PIB3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000501167   ⟸   ENST00000674102
RefSeq Acc Id: ENSP00000477725   ⟸   ENST00000619269
RefSeq Acc Id: ENSP00000371726   ⟸   ENST00000382289
RefSeq Acc Id: ENSP00000371723   ⟸   ENST00000382286
RefSeq Acc Id: ENSP00000371734   ⟸   ENST00000382297
RefSeq Acc Id: ENSP00000371730   ⟸   ENST00000382293
RefSeq Acc Id: ENSP00000371740   ⟸   ENST00000382303
RefSeq Acc Id: ENSP00000508795   ⟸   ENST00000691645
RefSeq Acc Id: ENSP00000510316   ⟸   ENST00000692757
RefSeq Acc Id: ENSP00000508833   ⟸   ENST00000685947
RefSeq Acc Id: ENSP00000508606   ⟸   ENST00000685380
RefSeq Acc Id: ENSP00000510133   ⟸   ENST00000688039
RefSeq Acc Id: ENSP00000509448   ⟸   ENST00000690348
RefSeq Acc Id: ENSP00000508779   ⟸   ENST00000689214
RefSeq Acc Id: ENSP00000508925   ⟸   ENST00000692345
RefSeq Acc Id: ENSP00000509160   ⟸   ENST00000687662
RefSeq Acc Id: ENSP00000510487   ⟸   ENST00000685590
RefSeq Acc Id: ENSP00000510088   ⟸   ENST00000689926
RefSeq Acc Id: ENSP00000510671   ⟸   ENST00000693088
RefSeq Acc Id: ENSP00000509347   ⟸   ENST00000693021
RefSeq Acc Id: ENSP00000510515   ⟸   ENST00000693143
RefSeq Acc Id: ENSP00000508451   ⟸   ENST00000689779
RefSeq Acc Id: ENSP00000510058   ⟸   ENST00000687796
RefSeq Acc Id: ENSP00000509034   ⟸   ENST00000691319
RefSeq Acc Id: ENSP00000509433   ⟸   ENST00000690372
RefSeq Acc Id: XP_047278997   ⟸   XM_047423041
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279023   ⟸   XM_047423067
- Peptide Label: isoform X3
- UniProtKB: A0A8I5KT40 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279016   ⟸   XM_047423060
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279029   ⟸   XM_047423073
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279014   ⟸   XM_047423058
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047278996   ⟸   XM_047423040
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279022   ⟸   XM_047423066
- Peptide Label: isoform X3
- UniProtKB: A0A8I5KT40 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279015   ⟸   XM_047423059
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279005   ⟸   XM_047423049
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279009   ⟸   XM_047423053
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279006   ⟸   XM_047423050
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047278999   ⟸   XM_047423043
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279007   ⟸   XM_047423051
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279003   ⟸   XM_047423047
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279004   ⟸   XM_047423048
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047278998   ⟸   XM_047423042
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279000   ⟸   XM_047423044
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279008   ⟸   XM_047423052
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279013   ⟸   XM_047423057
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279025   ⟸   XM_047423069
- Peptide Label: isoform X3
- UniProtKB: A0A8I5KT40 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279018   ⟸   XM_047423062
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279012   ⟸   XM_047423056
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279001   ⟸   XM_047423045
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279024   ⟸   XM_047423068
- Peptide Label: isoform X3
- UniProtKB: A0A8I5KT40 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279017   ⟸   XM_047423061
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279027   ⟸   XM_047423071
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279011   ⟸   XM_047423055
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279010   ⟸   XM_047423054
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279021   ⟸   XM_047423065
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279019   ⟸   XM_047423063
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279002   ⟸   XM_047423046
- Peptide Label: isoform X1
- UniProtKB: Q8IY65 (UniProtKB/Swiss-Prot),   Q5W0W0 (UniProtKB/Swiss-Prot),   Q14678 (UniProtKB/Swiss-Prot),   D3DRH3 (UniProtKB/Swiss-Prot),   A2A2W8 (UniProtKB/Swiss-Prot),   Q8WX74 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279026   ⟸   XM_047423070
- Peptide Label: isoform X3
- UniProtKB: A0A8I5KT40 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279020   ⟸   XM_047423064
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047279028   ⟸   XM_047423072
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047279030   ⟸   XM_047423074
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047279032   ⟸   XM_047423076
- Peptide Label: isoform X7
- UniProtKB: A0A8I5KZ49 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279031   ⟸   XM_047423075
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047279033   ⟸   XM_047423077
- Peptide Label: isoform X8
- UniProtKB: A0A8I5KRP2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047279035   ⟸   XM_047423079
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047279034   ⟸   XM_047423078
- Peptide Label: isoform X8
- UniProtKB: A0A8I5KRP2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054218435   ⟸   XM_054362460
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218438   ⟸   XM_054362463
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218443   ⟸   XM_054362468
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218460   ⟸   XM_054362485
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218453   ⟸   XM_054362478
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218451   ⟸   XM_054362476
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218452   ⟸   XM_054362477
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218445   ⟸   XM_054362470
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218447   ⟸   XM_054362472
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218450   ⟸   XM_054362475
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218436   ⟸   XM_054362461
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218463   ⟸   XM_054362488
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218456   ⟸   XM_054362481
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218448   ⟸   XM_054362473
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218439   ⟸   XM_054362464
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218462   ⟸   XM_054362487
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218455   ⟸   XM_054362480
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218437   ⟸   XM_054362462
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218467   ⟸   XM_054362492
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218465   ⟸   XM_054362490
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218458   ⟸   XM_054362483
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218440   ⟸   XM_054362465
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218449   ⟸   XM_054362474
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218446   ⟸   XM_054362471
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218461   ⟸   XM_054362486
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218454   ⟸   XM_054362479
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218469   ⟸   XM_054362494
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218464   ⟸   XM_054362489
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218444   ⟸   XM_054362469
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218457   ⟸   XM_054362482
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218441   ⟸   XM_054362466
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218442   ⟸   XM_054362467
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054218466   ⟸   XM_054362491
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054218459   ⟸   XM_054362484
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054218468   ⟸   XM_054362493
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054218475   ⟸   XM_054362500
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054218473   ⟸   XM_054362498
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054218471   ⟸   XM_054362496
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054218472   ⟸   XM_054362497
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054218470   ⟸   XM_054362495
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054218474   ⟸   XM_054362499
- Peptide Label: isoform X8

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14678-F1-model_v2 AlphaFold Q14678 1-1352 view protein structure

Promoters
RGD ID:7214545
Promoter ID:EPDNEW_H13019
Type:initiation region
Name:KANK1_2
Description:KN motif and ankyrin repeat domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13020  EPDNEW_H13021  EPDNEW_H13022  EPDNEW_H13023  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389470,295 - 470,355EPDNEW
RGD ID:6807798
Promoter ID:HG_KWN:62418
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000354485,   ENST00000397976,   OTTHUMT00000156886,   OTTHUMT00000156887
Position:
Human AssemblyChrPosition (strand)Source
Build 369494,041 - 494,541 (+)MPROMDB
RGD ID:7214547
Promoter ID:EPDNEW_H13020
Type:initiation region
Name:KANK1_1
Description:KN motif and ankyrin repeat domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13019  EPDNEW_H13021  EPDNEW_H13022  EPDNEW_H13023  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389504,733 - 504,793EPDNEW
RGD ID:7214549
Promoter ID:EPDNEW_H13021
Type:initiation region
Name:KANK1_4
Description:KN motif and ankyrin repeat domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13019  EPDNEW_H13020  EPDNEW_H13022  EPDNEW_H13023  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389621,533 - 621,593EPDNEW
RGD ID:6807797
Promoter ID:HG_KWN:62425
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000051488
Position:
Human AssemblyChrPosition (strand)Source
Build 369696,914 - 697,414 (+)MPROMDB
RGD ID:7214551
Promoter ID:EPDNEW_H13022
Type:initiation region
Name:KANK1_3
Description:KN motif and ankyrin repeat domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13019  EPDNEW_H13020  EPDNEW_H13021  EPDNEW_H13023  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389706,856 - 706,916EPDNEW
RGD ID:6807796
Promoter ID:HG_KWN:62426
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:ENST00000382286,   UC010MGX.1,   UC010MGY.1
Position:
Human AssemblyChrPosition (strand)Source
Build 369721,346 - 721,846 (+)MPROMDB
RGD ID:7214553
Promoter ID:EPDNEW_H13023
Type:initiation region
Name:KANK1_5
Description:KN motif and ankyrin repeat domains 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13019  EPDNEW_H13020  EPDNEW_H13021  EPDNEW_H13022  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389732,378 - 732,438EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19309 AgrOrtholog
COSMIC KANK1 COSMIC
Ensembl Genes ENSG00000107104 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000382286.3 UniProtKB/TrEMBL
  ENST00000382289.7 UniProtKB/TrEMBL
  ENST00000382293 ENTREZGENE
  ENST00000382293.7 UniProtKB/Swiss-Prot
  ENST00000382297 ENTREZGENE
  ENST00000382297.7 UniProtKB/Swiss-Prot
  ENST00000382303 ENTREZGENE
  ENST00000382303.5 UniProtKB/Swiss-Prot
  ENST00000619269.5 UniProtKB/TrEMBL
  ENST00000674102.1 UniProtKB/Swiss-Prot
  ENST00000685380 ENTREZGENE
  ENST00000685380.1 UniProtKB/TrEMBL
  ENST00000685590.1 UniProtKB/TrEMBL
  ENST00000685947 ENTREZGENE
  ENST00000685947.1 UniProtKB/Swiss-Prot
  ENST00000687662.1 UniProtKB/TrEMBL
  ENST00000687796 ENTREZGENE
  ENST00000687796.1 UniProtKB/Swiss-Prot
  ENST00000688039 ENTREZGENE
  ENST00000688039.1 UniProtKB/TrEMBL
  ENST00000689214.1 UniProtKB/TrEMBL
  ENST00000689779 ENTREZGENE
  ENST00000689779.1 UniProtKB/Swiss-Prot
  ENST00000689926 ENTREZGENE
  ENST00000689926.1 UniProtKB/TrEMBL
  ENST00000690348.1 UniProtKB/TrEMBL
  ENST00000690372 ENTREZGENE
  ENST00000690372.1 UniProtKB/Swiss-Prot
  ENST00000691319 ENTREZGENE
  ENST00000691319.1 UniProtKB/TrEMBL
  ENST00000691645.1 UniProtKB/TrEMBL
  ENST00000692345.1 UniProtKB/TrEMBL
  ENST00000692757 ENTREZGENE
  ENST00000692757.1 UniProtKB/TrEMBL
  ENST00000693021 ENTREZGENE
  ENST00000693021.1 UniProtKB/TrEMBL
  ENST00000693088.1 UniProtKB/TrEMBL
  ENST00000693143 ENTREZGENE
  ENST00000693143.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000107104 GTEx
HGNC ID HGNC:19309 ENTREZGENE
Human Proteome Map KANK1 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KANK1-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KN_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23189 UniProtKB/Swiss-Prot
NCBI Gene 23189 ENTREZGENE
OMIM 607704 OMIM
PANTHER KN MOTIF AND ANKYRIN REPEAT DOMAIN-CONTAINING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KN MOTIF AND ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KN_motif UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162392554 PharmGKB
PRINTS ANKYRIN UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8I5KNW9_HUMAN UniProtKB/TrEMBL
  A0A8I5KP85_HUMAN UniProtKB/TrEMBL
  A0A8I5KRP2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KSV2_HUMAN UniProtKB/TrEMBL
  A0A8I5KT40 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KTS9_HUMAN UniProtKB/TrEMBL
  A0A8I5KUD8 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KUI5_HUMAN UniProtKB/TrEMBL
  A0A8I5KUM3 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KVK4_HUMAN UniProtKB/TrEMBL
  A0A8I5KXH8_HUMAN UniProtKB/TrEMBL
  A0A8I5KZ49 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5QKT2_HUMAN UniProtKB/TrEMBL
  A0A8J9BYE6_HUMAN UniProtKB/TrEMBL
  A2A2W8 ENTREZGENE
  A8KAC4 ENTREZGENE, UniProtKB/TrEMBL
  D3DRH3 ENTREZGENE
  KANK1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5W0W0 ENTREZGENE
  Q5W0W2_HUMAN UniProtKB/TrEMBL
  Q5W0W3_HUMAN UniProtKB/TrEMBL
  Q6PIB3 ENTREZGENE, UniProtKB/TrEMBL
  Q8IY65 ENTREZGENE
  Q8WUM7_HUMAN UniProtKB/TrEMBL
  Q8WX74 ENTREZGENE
UniProt Secondary A2A2W8 UniProtKB/Swiss-Prot
  D3DRH3 UniProtKB/Swiss-Prot
  Q5W0W0 UniProtKB/Swiss-Prot
  Q8IY65 UniProtKB/Swiss-Prot
  Q8WX74 UniProtKB/Swiss-Prot