CCBE1 (collagen and calcium binding EGF domains 1) - Rat Genome Database

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Gene: CCBE1 (collagen and calcium binding EGF domains 1) Homo sapiens
Analyze
Symbol: CCBE1
Name: collagen and calcium binding EGF domains 1
RGD ID: 1349047
HGNC Page HGNC:29426
Description: Enables collagen binding activity and protease binding activity. Involved in lymphangiogenesis; positive regulation of gene expression; and positive regulation of vascular endothelial growth factor signaling pathway. Located in extracellular matrix and extracellular space. Implicated in Hennekam syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: collagen and calcium-binding EGF domain-containing protein 1; FLJ30681; full of fluid protein homolog; HKLLS1; MGC50861
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381859,430,939 - 59,697,721 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1859,430,939 - 59,697,662 (-)EnsemblGRCh38hg38GRCh38
GRCh371857,098,171 - 57,364,655 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361855,252,124 - 55,515,570 (-)NCBINCBI36Build 36hg18NCBI36
Build 341855,252,128 - 55,515,570NCBI
Celera1853,815,992 - 54,082,692 (-)NCBICelera
Cytogenetic Map18q21.32NCBI
HuRef1853,807,272 - 54,074,065 (-)NCBIHuRef
CHM1_11857,093,481 - 57,360,274 (-)NCBICHM1_1
T2T-CHM13v2.01859,632,718 - 59,900,788 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dental morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal foot morphology  (IAGP)
Abnormal oral mucosa morphology  (IAGP)
Abnormal pinna morphology  (IAGP)
Arteriovenous malformation  (IAGP)
Ascites  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Benign neoplasm of the central nervous system  (IAGP)
Bilateral single transverse palmar creases  (IAGP)
Broad forehead  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Chylothorax  (IAGP)
Conductive hearing impairment  (IAGP)
Conical incisor  (IAGP)
Coronal craniosynostosis  (IAGP)
Craniosynostosis  (IAGP)
Cryptorchidism  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed gross motor development  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Ectopic kidney  (IAGP)
Epicanthus  (IAGP)
Erysipelas  (IAGP)
Finger syndactyly  (IAGP)
Flat face  (IAGP)
Gingival overgrowth  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hirsutism  (IAGP)
Horseshoe kidney  (IAGP)
Hydronephrosis  (IAGP)
Hydrops fetalis  (IAGP)
Hyperactivity  (IAGP)
Hypertelorism  (IAGP)
Hypoalbuminemia  (IAGP)
Hypocalcemia  (IAGP)
Hypoplastic iliac wing  (IAGP)
Intellectual disability  (IAGP)
Intestinal lymphangiectasia  (IAGP)
Joint contracture of the hand  (IAGP)
Low-set ears  (IAGP)
Lymphadenopathy  (IAGP)
Lymphangioma  (IAGP)
Lymphedema  (IAGP)
Lymphopenia  (IAGP)
Malabsorption  (IAGP)
Malar flattening  (IAGP)
Mild postnatal growth retardation  (IAGP)
Narrow chest  (IAGP)
Narrow mouth  (IAGP)
Narrow palate  (IAGP)
Nonimmune hydrops fetalis  (IAGP)
Oligodontia  (IAGP)
Pachygyria  (IAGP)
Pectus excavatum  (IAGP)
Pericardial effusion  (IAGP)
Pericardial lymphangiectasia  (IAGP)
Periorbital edema  (IAGP)
Pleural effusion  (IAGP)
Pleural lymphangiectasia  (IAGP)
Protein-losing enteropathy  (IAGP)
Pulmonary lymphangiectasia  (IAGP)
Pyloric stenosis  (IAGP)
Rectal prolapse  (IAGP)
Recurrent respiratory infections  (IAGP)
Respiratory insufficiency  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short foot  (IAGP)
Short palm  (IAGP)
Short philtrum  (IAGP)
Small hand  (IAGP)
Smooth philtrum  (IAGP)
Sparse axillary hair  (IAGP)
Spina bifida occulta  (IAGP)
Splenomegaly  (IAGP)
Supernumerary tooth  (IAGP)
Talipes equinovarus  (IAGP)
Thyroid lymphangiectasia  (IAGP)
Tooth agenesis  (IAGP)
Umbilical hernia  (IAGP)
Ventricular septal defect  (IAGP)
Vesicoureteral reflux  (IAGP)
Wide nasal bridge  (IAGP)
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
Additional References at PubMed
PMID:11853319   PMID:12477932   PMID:12975309   PMID:14702039   PMID:18466450   PMID:18519826   PMID:19287381   PMID:19911200   PMID:19935664   PMID:19935792   PMID:20379614   PMID:21653829  
PMID:21778431   PMID:21988832   PMID:22239599   PMID:23857890   PMID:24086631   PMID:24552833   PMID:24939585   PMID:25416956   PMID:25814692   PMID:26686525   PMID:27503909   PMID:27506146  
PMID:28419078   PMID:28687807   PMID:29207117   PMID:30021884   PMID:30853196   PMID:32296183   PMID:32814053   PMID:32934959   PMID:33961781   PMID:33997050   PMID:34819004   PMID:34931668  
PMID:36781122   PMID:36849082   PMID:38092144   PMID:38726928  


Genomics

Comparative Map Data
CCBE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381859,430,939 - 59,697,721 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1859,430,939 - 59,697,662 (-)EnsemblGRCh38hg38GRCh38
GRCh371857,098,171 - 57,364,655 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361855,252,124 - 55,515,570 (-)NCBINCBI36Build 36hg18NCBI36
Build 341855,252,128 - 55,515,570NCBI
Celera1853,815,992 - 54,082,692 (-)NCBICelera
Cytogenetic Map18q21.32NCBI
HuRef1853,807,272 - 54,074,065 (-)NCBIHuRef
CHM1_11857,093,481 - 57,360,274 (-)NCBICHM1_1
T2T-CHM13v2.01859,632,718 - 59,900,788 (-)NCBIT2T-CHM13v2.0
Ccbe1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391866,189,926 - 66,424,909 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1866,178,373 - 66,435,812 (-)EnsemblGRCm39 Ensembl
GRCm381866,056,855 - 66,291,838 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1866,045,302 - 66,302,741 (-)EnsemblGRCm38mm10GRCm38
MGSCv371866,216,510 - 66,451,492 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361866,186,267 - 66,417,201 (-)NCBIMGSCv36mm8
Celera1867,332,660 - 67,571,414 (-)NCBICelera
Cytogenetic Map18E1NCBI
cM Map1839.13NCBI
Ccbe1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81861,849,821 - 62,093,876 (-)NCBIGRCr8
mRatBN7.21859,579,851 - 59,823,977 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1859,580,768 - 59,824,400 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.01861,758,754 - 62,013,194 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1861,759,289 - 61,788,863 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01860,953,314 - 61,204,084 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41862,407,265 - 62,442,194 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11862,444,950 - 62,516,306 (+)NCBI
Celera1857,703,958 - 57,944,773 (-)NCBICelera
Cytogenetic Map18q12.1NCBI
Ccbe1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540243,555,924 - 43,819,706 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540243,551,810 - 43,819,731 (-)NCBIChiLan1.0ChiLan1.0
CCBE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21776,925,872 - 77,237,725 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11862,662,702 - 62,930,251 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01852,819,591 - 53,087,772 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11856,149,036 - 56,412,550 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1856,149,036 - 56,412,222 (-)Ensemblpanpan1.1panPan2
CCBE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1116,597,389 - 16,819,888 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl116,597,334 - 16,819,894 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha117,573,095 - 17,795,588 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0116,468,211 - 16,697,179 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl116,468,224 - 16,697,173 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1116,503,987 - 16,732,917 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0116,430,870 - 16,653,326 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0116,686,056 - 16,915,078 (+)NCBIUU_Cfam_GSD_1.0
Ccbe1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494430,049,305 - 30,083,693 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364975,290,077 - 5,321,876 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364975,290,068 - 5,321,656 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CCBE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1161,321,273 - 161,556,537 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11161,320,627 - 161,556,539 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21178,904,622 - 179,130,264 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CCBE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11820,054,281 - 20,363,024 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1820,271,874 - 20,309,784 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660605,250,942 - 5,540,578 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ccbe1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247924,867,858 - 5,146,839 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247924,863,978 - 5,146,907 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CCBE1
485 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_133459.4(CCBE1):c.683_684insT (p.Leu229fs) insertion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000000477]|not provided [RCV001699097] Chr18:59448074..59448075 [GRCh38]
Chr18:57115306..57115307 [GRCh37]
Chr18:18q21.32		 pathogenic
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000000474]|not provided [RCV000434998] Chr18:59480228 [GRCh38]
Chr18:57147460 [GRCh37]
Chr18:18q21.32		 pathogenic
NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000000475] Chr18:59469568 [GRCh38]
Chr18:57136800 [GRCh37]
Chr18:18q21.32		 pathogenic
NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000000476] Chr18:59438119 [GRCh38]
Chr18:57105351 [GRCh37]
Chr18:18q21.32		 pathogenic
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) single nucleotide variant CCBE1-related disorder [RCV003415601]|Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000000478]|not provided [RCV000493564]|not specified [RCV003230337] Chr18:59466820 [GRCh38]
Chr18:57134052 [GRCh37]
Chr18:18q21.32		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000000479]|not provided [RCV001851511] Chr18:59466772 [GRCh38]
Chr18:57134004 [GRCh37]
Chr18:18q21.32		 pathogenic|likely pathogenic
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 copy number gain See cases [RCV000050989] Chr18:50068129..80252149 [GRCh38]
Chr18:47594499..78010032 [GRCh37]
Chr18:45848497..76111023 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1 copy number loss See cases [RCV000051032] Chr18:56618038..80252149 [GRCh38]
Chr18:54285269..78010032 [GRCh37]
Chr18:52436267..76111023 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] Chr18:53637007..80252149 [GRCh38]
Chr18:51163377..78010032 [GRCh37]
Chr18:49417375..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1 copy number loss See cases [RCV000053873] Chr18:56353040..80209986 [GRCh38]
Chr18:54020271..77967869 [GRCh37]
Chr18:52171269..76068860 [NCBI36]
Chr18:18q21.31-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] Chr18:51605752..80252149 [GRCh38]
Chr18:49132122..78010032 [GRCh37]
Chr18:47386120..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 copy number loss See cases [RCV000053836] Chr18:52156899..65408762 [GRCh38]
Chr18:49683269..63075998 [GRCh37]
Chr18:47937267..61226978 [NCBI36]
Chr18:18q21.2-22.1		 pathogenic
NM_133459.3(CCBE1):c.745C>T (p.Pro249Ser) single nucleotide variant Malignant melanoma [RCV000071865] Chr18:59448013 [GRCh38]
Chr18:57115245 [GRCh37]
Chr18:55266225 [NCBI36]
Chr18:18q21.32		 not provided
NM_133459.3(CCBE1):c.727A>C (p.Thr243Pro) single nucleotide variant Malignant melanoma [RCV000063399] Chr18:59448031 [GRCh38]
Chr18:57115263 [GRCh37]
Chr18:55266243 [NCBI36]
Chr18:18q21.32		 not provided
NM_133459.3(CCBE1):c.230G>A (p.Gly77Glu) single nucleotide variant Malignant melanoma [RCV000063400] Chr18:59480221 [GRCh38]
Chr18:57147453 [GRCh37]
Chr18:55298433 [NCBI36]
Chr18:18q21.32		 not provided
NM_133459.4(CCBE1):c.1030G>C (p.Asp344His) single nucleotide variant not provided [RCV002001768] Chr18:59436099 [GRCh38]
Chr18:57103331 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.966G>A (p.Ala322=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001001166]|not provided [RCV002068766] Chr18:59438132 [GRCh38]
Chr18:57105364 [GRCh37]
Chr18:18q21.32		 likely benign|conflicting interpretations of pathogenicity
NM_133459.4(CCBE1):c.776-164G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001554596]|not provided [RCV001673212] Chr18:59439980 [GRCh38]
Chr18:57107212 [GRCh37]
Chr18:18q21.32		 benign
GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1 copy number loss See cases [RCV000133689] Chr18:59567681..80252149 [GRCh38]
Chr18:57234913..78010032 [GRCh37]
Chr18:55385893..76111023 [NCBI36]
Chr18:18q21.32-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 copy number loss See cases [RCV000135413] Chr18:51190429..80252149 [GRCh38]
Chr18:48716799..78010032 [GRCh37]
Chr18:46970797..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 copy number loss See cases [RCV000136501] Chr18:54857756..60590631 [GRCh38]
Chr18:52524987..58257864 [GRCh37]
Chr18:50675985..56408844 [NCBI36]
Chr18:18q21.2-21.32		 pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1		 pathogenic
GRCh38/hg38 18q21.32(chr18:58939804-59720672)x3 copy number gain See cases [RCV000136915] Chr18:58939804..59720672 [GRCh38]
Chr18:56607036..57387904 [GRCh37]
Chr18:54758016..55538884 [NCBI36]
Chr18:18q21.32		 uncertain significance
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 copy number loss See cases [RCV000136674] Chr18:53865057..80252149 [GRCh38]
Chr18:51391427..78010032 [GRCh37]
Chr18:49645425..76111023 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 copy number gain See cases [RCV000137342] Chr18:49199411..80254946 [GRCh38]
Chr18:46725781..78012829 [GRCh37]
Chr18:44979779..76113817 [NCBI36]
Chr18:18q21.1-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 copy number loss See cases [RCV000137375] Chr18:55179364..80254946 [GRCh38]
Chr18:52846595..78012829 [GRCh37]
Chr18:50997593..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 copy number loss See cases [RCV000139134] Chr18:52421052..80254946 [GRCh38]
Chr18:49947422..78012829 [GRCh37]
Chr18:48201420..76113817 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 copy number gain See cases [RCV000139496] Chr18:53959828..80254936 [GRCh38]
Chr18:51486198..78012819 [GRCh37]
Chr18:49740196..76113807 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 copy number loss See cases [RCV000140925] Chr18:51167159..80256240 [GRCh38]
Chr18:48693529..78014123 [GRCh37]
Chr18:46947527..76115097 [NCBI36]
Chr18:18q21.2-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_133459.4(CCBE1):c.266-30T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001554706]|not provided [RCV001636825]|not specified [RCV000253371] Chr18:59469637 [GRCh38]
Chr18:57136869 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.401-29T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001554705]|not provided [RCV001541646]|not specified [RCV000243695] Chr18:59466920 [GRCh38]
Chr18:57134152 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.265+26C>A single nucleotide variant not provided [RCV001540736]|not specified [RCV000243831] Chr18:59480160 [GRCh38]
Chr18:57147392 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.265+28G>C single nucleotide variant not provided [RCV001707598]|not specified [RCV000248799] Chr18:59480158 [GRCh38]
Chr18:57147390 [GRCh37]
Chr18:18q21.32		 benign
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_133459.4(CCBE1):c.837C>T (p.Pro279=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000345081]|not provided [RCV001517632]|not specified [RCV000244858] Chr18:59439755 [GRCh38]
Chr18:57106987 [GRCh37]
Chr18:18q21.32		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133459.4(CCBE1):c.988-10A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000294791]|not provided [RCV000969702]|not specified [RCV000249814] Chr18:59436151 [GRCh38]
Chr18:57103383 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*14C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000293472]|not provided [RCV004717126]|not specified [RCV000252232] Chr18:59435894 [GRCh38]
Chr18:57103126 [GRCh37]
Chr18:18q21.32		 benign|uncertain significance
NM_133459.4(CCBE1):c.499C>T (p.Arg167Trp) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127893]|not provided [RCV000913020]|not specified [RCV000248240] Chr18:59466793 [GRCh38]
Chr18:57134025 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.775+12A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000406768]|not provided [RCV001511765]|not specified [RCV000253276] Chr18:59447971 [GRCh38]
Chr18:57115203 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*2143G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000265373] Chr18:59433765 [GRCh38]
Chr18:57100997 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1040C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000283721]|not provided [RCV004717177] Chr18:59434868 [GRCh38]
Chr18:57102100 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*2978T>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000284661] Chr18:59432930 [GRCh38]
Chr18:57100162 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*4796G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000303821]|not provided [RCV004717161] Chr18:59431112 [GRCh38]
Chr18:57098344 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*1258C>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000268708] Chr18:59434650 [GRCh38]
Chr18:57101882 [GRCh37]
Chr18:18q21.32		 benign|uncertain significance
NM_133459.4(CCBE1):c.*2787T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000268775] Chr18:59433121 [GRCh38]
Chr18:57100353 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*4846G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000305007] Chr18:59431062 [GRCh38]
Chr18:57098294 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*2178C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000305348] Chr18:59433730 [GRCh38]
Chr18:57100962 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*3257A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000271448] Chr18:59432651 [GRCh38]
Chr18:57099883 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4550AAT[1] microsatellite Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000276403]|not provided [RCV003409518] Chr18:59431353..59431355 [GRCh38]
Chr18:57098585..57098587 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*1697G>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000297228] Chr18:59434211 [GRCh38]
Chr18:57101443 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*835T>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000280143] Chr18:59435073 [GRCh38]
Chr18:57102305 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2638del deletion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000281552] Chr18:59433270 [GRCh38]
Chr18:57100502 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*2460T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000320052] Chr18:59433448 [GRCh38]
Chr18:57100680 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*942C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000343370] Chr18:59434966 [GRCh38]
Chr18:57102198 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.654+10G>A single nucleotide variant CCBE1-related disorder [RCV003910256]|Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000364971]|not provided [RCV002057466] Chr18:59454841 [GRCh38]
Chr18:57122073 [GRCh37]
Chr18:18q21.32		 benign|likely benign|uncertain significance
NM_133459.4(CCBE1):c.*2730A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000268369]|not provided [RCV004717171] Chr18:59433178 [GRCh38]
Chr18:57100410 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*378G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000307234] Chr18:59435530 [GRCh38]
Chr18:57102762 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*2825A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000308572]|not provided [RCV004717169] Chr18:59433083 [GRCh38]
Chr18:57100315 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*4788T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000356254]|not provided [RCV004717162] Chr18:59431120 [GRCh38]
Chr18:57098352 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.-30G>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000356766] Chr18:59697372 [GRCh38]
Chr18:57364604 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3780A>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000356439]|not provided [RCV004717166] Chr18:59432128 [GRCh38]
Chr18:57099360 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*1655T>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000356695] Chr18:59434253 [GRCh38]
Chr18:57101485 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2051C>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000259281] Chr18:59433857 [GRCh38]
Chr18:57101089 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4945C>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000344647]|not provided [RCV004717160] Chr18:59430963 [GRCh38]
Chr18:57098195 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*337T>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000366524] Chr18:59435571 [GRCh38]
Chr18:57102803 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*3893C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000392313] Chr18:59432015 [GRCh38]
Chr18:57099247 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2242T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000310658]|not provided [RCV004718514] Chr18:59433666 [GRCh38]
Chr18:57100898 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*2758C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000360900]|not provided [RCV004717170] Chr18:59433150 [GRCh38]
Chr18:57100382 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*519dup duplication Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000270873] Chr18:59435388..59435389 [GRCh38]
Chr18:57102620..57102621 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.*2951_*2952insC insertion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000278320] Chr18:59432956..59432957 [GRCh38]
Chr18:57100188..57100189 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*160A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000322862] Chr18:59435748 [GRCh38]
Chr18:57102980 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4180A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000344984] Chr18:59431728 [GRCh38]
Chr18:57098960 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*610G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000369761] Chr18:59435298 [GRCh38]
Chr18:57102530 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1463del deletion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000312309] Chr18:59434445 [GRCh38]
Chr18:57101677 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4799G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000362083] Chr18:59431109 [GRCh38]
Chr18:57098341 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*306_*307insAAAT insertion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000271896] Chr18:59435601..59435602 [GRCh38]
Chr18:57102833..57102834 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3080A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000324504] Chr18:59432828 [GRCh38]
Chr18:57100060 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*4398C>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000346711]|not provided [RCV004717165] Chr18:59431510 [GRCh38]
Chr18:57098742 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*1421C>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000277158] Chr18:59434487 [GRCh38]
Chr18:57101719 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2901T>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000314580] Chr18:59433007 [GRCh38]
Chr18:57100239 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*616A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000315061] Chr18:59435292 [GRCh38]
Chr18:57102524 [GRCh37]
Chr18:18q21.32		 benign|uncertain significance
NM_133459.4(CCBE1):c.*4749C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000316287]|not provided [RCV004717163] Chr18:59431159 [GRCh38]
Chr18:57098391 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000316049]|not provided [RCV000419352] Chr18:59697220 [GRCh38]
Chr18:57364452 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*1434C>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000367018] Chr18:59434474 [GRCh38]
Chr18:57101706 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*2297_*2298dup duplication Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000292835] Chr18:59433609..59433610 [GRCh38]
Chr18:57100841..57100842 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2372C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000279837]|not provided [RCV004717173] Chr18:59433536 [GRCh38]
Chr18:57100768 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*2080C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000317968] Chr18:59433828 [GRCh38]
Chr18:57101060 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1628T>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000261902] Chr18:59434280 [GRCh38]
Chr18:57101512 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4715T>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000373281] Chr18:59431193 [GRCh38]
Chr18:57098425 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*19C>T single nucleotide variant CCBE1-related disorder [RCV003910255]|Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000373831] Chr18:59435889 [GRCh38]
Chr18:57103121 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*2673G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000321136]|not provided [RCV004717172] Chr18:59433235 [GRCh38]
Chr18:57100467 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*267del deletion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000322308] Chr18:59435641 [GRCh38]
Chr18:57102873 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2373C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000372484] Chr18:59433535 [GRCh38]
Chr18:57100767 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*154G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000372804] Chr18:59435754 [GRCh38]
Chr18:57102986 [GRCh37]
Chr18:18q21.32		 benign|uncertain significance
NM_133459.4(CCBE1):c.*3162T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000328881]|not provided [RCV004718513] Chr18:59432746 [GRCh38]
Chr18:57099978 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*803C>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000401060] Chr18:59435105 [GRCh38]
Chr18:57102337 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3533C>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000330161] Chr18:59432375 [GRCh38]
Chr18:57099607 [GRCh37]
Chr18:18q21.32		 benign|uncertain significance
NM_133459.4(CCBE1):c.*3036C>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000376710]|not provided [RCV004717168] Chr18:59432872 [GRCh38]
Chr18:57100104 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*3140G>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000285709] Chr18:59432768 [GRCh38]
Chr18:57100000 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1992A>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000381139] Chr18:59433916 [GRCh38]
Chr18:57101148 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1346G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000381890] Chr18:59434562 [GRCh38]
Chr18:57101794 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1942T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000289129] Chr18:59433966 [GRCh38]
Chr18:57101198 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*1347C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000332153] Chr18:59434561 [GRCh38]
Chr18:57101793 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4375T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000384973] Chr18:59431533 [GRCh38]
Chr18:57098765 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4498T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000386049] Chr18:59431410 [GRCh38]
Chr18:57098642 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*836C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000379262] Chr18:59435072 [GRCh38]
Chr18:57102304 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4940A>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000404513] Chr18:59430968 [GRCh38]
Chr18:57098200 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4504G>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000333766]|not provided [RCV004717164] Chr18:59431404 [GRCh38]
Chr18:57098636 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*2912G>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000335683] Chr18:59432996 [GRCh38]
Chr18:57100228 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2013_*2016del deletion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000386751] Chr18:59433892..59433895 [GRCh38]
Chr18:57101124..57101127 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.1058A>G (p.Gln353Arg) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000389991] Chr18:59436071 [GRCh38]
Chr18:57103303 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2158C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000357667] Chr18:59433750 [GRCh38]
Chr18:57100982 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*4426del deletion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000294089] Chr18:59431482 [GRCh38]
Chr18:57098714 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*2903G>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000393562] Chr18:59433005 [GRCh38]
Chr18:57100237 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2951_*2952dup duplication Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000392818] Chr18:59432955..59432956 [GRCh38]
Chr18:57100187..57100188 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.*2298dup duplication Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000399859] Chr18:59433609..59433610 [GRCh38]
Chr18:57100841..57100842 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*3623A>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000277186] Chr18:59432285 [GRCh38]
Chr18:57099517 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2015_*2017dup duplication Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000277256] Chr18:59433890..59433891 [GRCh38]
Chr18:57101122..57101123 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*814T>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000335385]|not provided [RCV004717178] Chr18:59435094 [GRCh38]
Chr18:57102326 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*3710A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000259659] Chr18:59432198 [GRCh38]
Chr18:57099430 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*3805T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000339027]|not provided [RCV004718512] Chr18:59432103 [GRCh38]
Chr18:57099335 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*1737C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000340775] Chr18:59434171 [GRCh38]
Chr18:57101403 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*146C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000278063] Chr18:59435762 [GRCh38]
Chr18:57102994 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2952dup duplication Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000337383] Chr18:59432955..59432956 [GRCh38]
Chr18:57100187..57100188 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.265+8A>C single nucleotide variant CCBE1-related disorder [RCV003910257]|Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000360423]|not provided [RCV000890373]|not specified [RCV001699372] Chr18:59480178 [GRCh38]
Chr18:57147410 [GRCh37]
Chr18:18q21.32		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133459.4(CCBE1):c.156C>T (p.Ile52=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000260860]|not provided [RCV000901990] Chr18:59696685 [GRCh38]
Chr18:57363917 [GRCh37]
Chr18:18q21.32		 benign|uncertain significance
NM_133459.4(CCBE1):c.*194A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000267638] Chr18:59435714 [GRCh38]
Chr18:57102946 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2023G>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000316906] Chr18:59433885 [GRCh38]
Chr18:57101117 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4773C>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000263801] Chr18:59431135 [GRCh38]
Chr18:57098367 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1157G>C (p.Gly386Ala) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000348655]|not provided [RCV001859932] Chr18:59435972 [GRCh38]
Chr18:57103204 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2227G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000362987]|not provided [RCV004717175] Chr18:59433681 [GRCh38]
Chr18:57100913 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*3475G>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000386978]|not provided [RCV004717167] Chr18:59432433 [GRCh38]
Chr18:57099665 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*2020C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000388073]|not provided [RCV004717176] Chr18:59433888 [GRCh38]
Chr18:57101120 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.*4796G>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000265093] Chr18:59431112 [GRCh38]
Chr18:57098344 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.541C>T (p.Pro181Ser) single nucleotide variant CCBE1-related disorder [RCV004754392]|Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000406776]|not provided [RCV002057467] Chr18:59466751 [GRCh38]
Chr18:57133983 [GRCh37]
Chr18:18q21.32		 benign|likely benign|uncertain significance
NM_133459.4(CCBE1):c.*70A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000319130] Chr18:59435838 [GRCh38]
Chr18:57103070 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2833C>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000390689] Chr18:59433075 [GRCh38]
Chr18:57100307 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.431C>T (p.Thr144Met) single nucleotide variant CCBE1-related disorder [RCV003401342]|Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000305648]|not provided [RCV000911840] Chr18:59466861 [GRCh38]
Chr18:57134093 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*2361G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000351152]|not provided [RCV004717174] Chr18:59433547 [GRCh38]
Chr18:57100779 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*2017G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000329950] Chr18:59433891 [GRCh38]
Chr18:57101123 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3143T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000382518] Chr18:59432765 [GRCh38]
Chr18:57099997 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1161dup duplication Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000383119] Chr18:59434746..59434747 [GRCh38]
Chr18:57101978..57101979 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3883G>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000305273] Chr18:59432025 [GRCh38]
Chr18:57099257 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1991_*1994del deletion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000347636] Chr18:59433914..59433917 [GRCh38]
Chr18:57101146..57101149 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2810A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000365692] Chr18:59433098 [GRCh38]
Chr18:57100330 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2891G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000366938] Chr18:59433017 [GRCh38]
Chr18:57100249 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2299T>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000350137] Chr18:59433609 [GRCh38]
Chr18:57100841 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2210T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000404409] Chr18:59433698 [GRCh38]
Chr18:57100930 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*739A>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000350525] Chr18:59435169 [GRCh38]
Chr18:57102401 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2297_*2298insT insertion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000406883] Chr18:59433610..59433611 [GRCh38]
Chr18:57100842..57100843 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3668_*3676del deletion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000369625] Chr18:59432232..59432240 [GRCh38]
Chr18:57099464..57099472 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4956A>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000308653] Chr18:59430952 [GRCh38]
Chr18:57098184 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1725G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000391121] Chr18:59434183 [GRCh38]
Chr18:57101415 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1933del deletion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000391175] Chr18:59433975 [GRCh38]
Chr18:57101207 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4246C>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000287708] Chr18:59431662 [GRCh38]
Chr18:57098894 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3703G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000298486] Chr18:59432205 [GRCh38]
Chr18:57099437 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.669C>A (p.Pro223=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000310187] Chr18:59448089 [GRCh38]
Chr18:57115321 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3788T>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000392306] Chr18:59432120 [GRCh38]
Chr18:57099352 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3784_*3787del deletion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000299307] Chr18:59432121..59432124 [GRCh38]
Chr18:57099353..57099356 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2058G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000356372] Chr18:59433850 [GRCh38]
Chr18:57101082 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*645T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000392891] Chr18:59435263 [GRCh38]
Chr18:57102495 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*261T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000357745] Chr18:59435647 [GRCh38]
Chr18:57102879 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*752T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000300339] Chr18:59435156 [GRCh38]
Chr18:57102388 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2771A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000327092] Chr18:59433137 [GRCh38]
Chr18:57100369 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1933dup duplication Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000341872] Chr18:59433974..59433975 [GRCh38]
Chr18:57101206..57101207 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2014_*2016dup duplication Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000290301] Chr18:59433891..59433892 [GRCh38]
Chr18:57101123..57101124 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2639del deletion Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000378347] Chr18:59433269 [GRCh38]
Chr18:57100501 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1771G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000302213] Chr18:59434137 [GRCh38]
Chr18:57101369 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1251G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000328499] Chr18:59434657 [GRCh38]
Chr18:57101889 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.31-22.3(chr18:55793243-68705548)x1 copy number loss See cases [RCV000449209] Chr18:55793243..68705548 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 copy number loss See cases [RCV000446087] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 copy number loss See cases [RCV000510720] Chr18:50224898..78014123 [GRCh37]
Chr18:18q21.2-23		 likely pathogenic
GRCh37/hg19 18q21.32(chr18:56589023-57506331)x3 copy number gain See cases [RCV000445786] Chr18:56589023..57506331 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 copy number loss See cases [RCV000445943] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 copy number loss See cases [RCV000447931] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 copy number loss See cases [RCV000448656] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23		 pathogenic
NM_133459.4(CCBE1):c.356A>T (p.Tyr119Phe) single nucleotide variant Inborn genetic diseases [RCV002525891]|not provided [RCV000484042] Chr18:59469517 [GRCh38]
Chr18:57136749 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.31-23(chr18:54462182-78014123)x1 copy number loss See cases [RCV000512059] Chr18:54462182..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 copy number gain See cases [RCV000510655] Chr18:47454437..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
NM_133459.4(CCBE1):c.379C>T (p.Arg127Trp) single nucleotide variant not provided [RCV000494049] Chr18:59469494 [GRCh38]
Chr18:57136726 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23		 pathogenic
GRCh37/hg19 18q21.32(chr18:56623382-57545665)x3 copy number gain See cases [RCV000511151] Chr18:56623382..57545665 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_133459.4(CCBE1):c.260C>A (p.Pro87Gln) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000767916]|not provided [RCV001855966] Chr18:59480191 [GRCh38]
Chr18:57147423 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.654+5G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125787]|not provided [RCV001363978]|not specified [RCV000607279] Chr18:59454846 [GRCh38]
Chr18:57122078 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55298900-78014123)x1 copy number loss not provided [RCV000684059] Chr18:55298900..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 copy number loss not provided [RCV000684060] Chr18:46942427..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.32(chr18:56590414-57506331)x3 copy number gain not provided [RCV000684015] Chr18:56590414..57506331 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.31-22.3(chr18:55083032-72743857)x1 copy number loss not provided [RCV000684056] Chr18:55083032..72743857 [GRCh37]
Chr18:18q21.31-22.3		 pathogenic
GRCh37/hg19 18q21.32-23(chr18:56905884-78014123)x1 copy number loss not provided [RCV000684058] Chr18:56905884..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 copy number loss not provided [RCV000739822] Chr18:51036415..59275480 [GRCh37]
Chr18:18q21.2-21.33		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 copy number loss not provided [RCV000739824] Chr18:52802515..78015180 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_133459.4(CCBE1):c.553+249A>G single nucleotide variant not provided [RCV001665595] Chr18:59466490 [GRCh38]
Chr18:57133722 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.266-63G>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001554707]|not provided [RCV001619985]|not specified [RCV003487483] Chr18:59469670 [GRCh38]
Chr18:57136902 [GRCh37]
Chr18:18q21.32		 benign
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_133459.4(CCBE1):c.988-179C>T single nucleotide variant not provided [RCV001665177] Chr18:59436320 [GRCh38]
Chr18:57103552 [GRCh37]
Chr18:18q21.32		 benign
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 copy number loss not provided [RCV001007016] Chr18:49460596..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.32-22.1(chr18:57244903-63722436)x1 copy number loss not provided [RCV000752355] Chr18:57244903..63722436 [GRCh37]
Chr18:18q21.32-22.1		 benign
GRCh37/hg19 18q21.32-23(chr18:57244903-77325446)x1 copy number loss not provided [RCV000752356] Chr18:57244903..77325446 [GRCh37]
Chr18:18q21.32-23		 pathogenic
NM_133459.4(CCBE1):c.952-260T>C single nucleotide variant not provided [RCV001644430] Chr18:59438406 [GRCh38]
Chr18:57105638 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.1017A>G (p.Leu339=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001122031]|not provided [RCV000893721] Chr18:59436112 [GRCh38]
Chr18:57103344 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
GRCh37/hg19 18q21.31-23(chr18:55458425-78014123)x1 copy number loss not provided [RCV001007017] Chr18:55458425..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
GRCh37/hg19 18q21.32(chr18:57169991-57303589)x1 copy number loss not provided [RCV001006986] Chr18:57169991..57303589 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.916-2A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000778538]|Inborn genetic diseases [RCV002535636]|not provided [RCV001662814]|not specified [RCV001192528] Chr18:59439580 [GRCh38]
Chr18:57106812 [GRCh37]
Chr18:18q21.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_133459.4(CCBE1):c.432G>T (p.Thr144=) single nucleotide variant not provided [RCV000975421] Chr18:59466860 [GRCh38]
Chr18:57134092 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.519A>G (p.Thr173=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127892]|not provided [RCV000940379] Chr18:59466773 [GRCh38]
Chr18:57134005 [GRCh37]
Chr18:18q21.32		 benign|uncertain significance
NM_133459.4(CCBE1):c.354A>G (p.Arg118=) single nucleotide variant not provided [RCV000906440] Chr18:59469519 [GRCh38]
Chr18:57136751 [GRCh37]
Chr18:18q21.32		 likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 18q21.32-23(chr18:56750525-78014123)x1 copy number loss not provided [RCV001007018] Chr18:56750525..78014123 [GRCh37]
Chr18:18q21.32-23		 pathogenic
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33		 pathogenic
GRCh37/hg19 18q21.32(chr18:57108312-57484185)x3 copy number gain not provided [RCV000846845] Chr18:57108312..57484185 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.266-104C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV000990113]|not provided [RCV001644874]|not specified [RCV003489992] Chr18:59469711 [GRCh38]
Chr18:57136943 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.*4877C>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124338] Chr18:59431031 [GRCh38]
Chr18:57098263 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*781A>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124699] Chr18:59435127 [GRCh38]
Chr18:57102359 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1257T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127712] Chr18:59434651 [GRCh38]
Chr18:57101883 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*20G>A single nucleotide variant CCBE1-related disorder [RCV003945842]|Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127804] Chr18:59435888 [GRCh38]
Chr18:57103120 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.1000T>G (p.Ser334Ala) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001122033] Chr18:59436129 [GRCh38]
Chr18:57103361 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3777A>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125436] Chr18:59432131 [GRCh38]
Chr18:57099363 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.557A>G (p.His186Arg) single nucleotide variant CCBE1-related disorder [RCV003906240]|Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125788]|not provided [RCV002070051] Chr18:59454948 [GRCh38]
Chr18:57122180 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.*3931G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001123342] Chr18:59431977 [GRCh38]
Chr18:57099209 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.*938G>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001123628] Chr18:59434970 [GRCh38]
Chr18:57102202 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.401-225G>C single nucleotide variant not provided [RCV001649784] Chr18:59467116 [GRCh38]
Chr18:57134348 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.195G>A (p.Glu65=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001122141]|not provided [RCV000955008] Chr18:59696646 [GRCh38]
Chr18:57363878 [GRCh37]
Chr18:18q21.32		 benign|likely benign
NM_133459.4(CCBE1):c.287C>G (p.Ala96Gly) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001122139]|not provided [RCV001856607] Chr18:59469586 [GRCh38]
Chr18:57136818 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3239G>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127542] Chr18:59432669 [GRCh38]
Chr18:57099901 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3231G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127543] Chr18:59432677 [GRCh38]
Chr18:57099909 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.373C>T (p.Arg125Trp) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127896]|not provided [RCV001856667] Chr18:59469500 [GRCh38]
Chr18:57136732 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1969A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124614] Chr18:59433939 [GRCh38]
Chr18:57101171 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.902G>A (p.Arg301Gln) single nucleotide variant CCBE1-related disorder [RCV003396759]|Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124794]|Inborn genetic diseases [RCV002558231]|not provided [RCV001350029] Chr18:59439690 [GRCh38]
Chr18:57106922 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.810C>T (p.Pro270=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124798]|not provided [RCV002070033] Chr18:59439782 [GRCh38]
Chr18:57107014 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*504T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125705] Chr18:59435404 [GRCh38]
Chr18:57102636 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*182C>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125707] Chr18:59435726 [GRCh38]
Chr18:57102958 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.733C>G (p.Leu245Val) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125785] Chr18:59448025 [GRCh38]
Chr18:57115257 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1163A>G (p.Asp388Gly) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV003145237]|not provided [RCV000935803] Chr18:59435966 [GRCh38]
Chr18:57103198 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.843A>T (p.Pro281=) single nucleotide variant CCBE1-related disorder [RCV003958323]|Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124797]|not provided [RCV000911133] Chr18:59439749 [GRCh38]
Chr18:57106981 [GRCh37]
Chr18:18q21.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133459.4(CCBE1):c.738A>G (p.Pro246=) single nucleotide variant not provided [RCV000890637] Chr18:59448020 [GRCh38]
Chr18:57115252 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.132-232C>A single nucleotide variant not provided [RCV001669433] Chr18:59696941 [GRCh38]
Chr18:57364173 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.775G>A (p.Gly259Ser) single nucleotide variant not provided [RCV002469683] Chr18:59447983 [GRCh38]
Chr18:57115215 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.32(chr18:57119208-57574957)x3 copy number gain not provided [RCV001006987] Chr18:57119208..57574957 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.213-209G>T single nucleotide variant not provided [RCV001649913] Chr18:59480447 [GRCh38]
Chr18:57147679 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.265+204C>T single nucleotide variant not provided [RCV001671665] Chr18:59479982 [GRCh38]
Chr18:57147214 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.655-155A>T single nucleotide variant not provided [RCV001635565] Chr18:59448258 [GRCh38]
Chr18:57115490 [GRCh37]
Chr18:18q21.32		 benign
NC_000018.10:g.59697596C>T single nucleotide variant not provided [RCV001619721] Chr18:59697596 [GRCh38]
Chr18:57364828 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.400+165A>G single nucleotide variant not provided [RCV001710684] Chr18:59469308 [GRCh38]
Chr18:57136540 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.553+301A>T single nucleotide variant not provided [RCV001656487] Chr18:59466438 [GRCh38]
Chr18:57133670 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.775+82A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001554597]|not provided [RCV001694117]|not specified [RCV003487482] Chr18:59447901 [GRCh38]
Chr18:57115133 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.655-197C>T single nucleotide variant not provided [RCV001658585] Chr18:59448300 [GRCh38]
Chr18:57115532 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.60G>C (p.Leu20=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124911] Chr18:59697283 [GRCh38]
Chr18:57364515 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.-27G>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124912] Chr18:59697369 [GRCh38]
Chr18:57364601 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3922T>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124426] Chr18:59431986 [GRCh38]
Chr18:57099218 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3862G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124427] Chr18:59432046 [GRCh38]
Chr18:57099278 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3853C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124428] Chr18:59432055 [GRCh38]
Chr18:57099287 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.869C>T (p.Pro290Leu) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124795]|not provided [RCV001856641] Chr18:59439723 [GRCh38]
Chr18:57106955 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2389C>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125532] Chr18:59433519 [GRCh38]
Chr18:57100751 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1861C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125623] Chr18:59434047 [GRCh38]
Chr18:57101279 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.671A>G (p.Asn224Ser) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125786]|not provided [RCV001862906] Chr18:59448087 [GRCh38]
Chr18:57115319 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.853A>G (p.Met285Val) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124796]|Inborn genetic diseases [RCV004601373]|not provided [RCV003425940] Chr18:59439739 [GRCh38]
Chr18:57106971 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.101C>A (p.Thr34Asn) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124909]|Inborn genetic diseases [RCV002558233]|not provided [RCV001573486] Chr18:59697242 [GRCh38]
Chr18:57364474 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*3704C>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125437] Chr18:59432204 [GRCh38]
Chr18:57099436 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2635A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125530] Chr18:59433273 [GRCh38]
Chr18:57100505 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1724C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125624] Chr18:59434184 [GRCh38]
Chr18:57101416 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.552T>C (p.Thr184=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125789]|not provided [RCV002556726] Chr18:59466740 [GRCh38]
Chr18:57133972 [GRCh37]
Chr18:18q21.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_133459.4(CCBE1):c.1064A>C (p.Lys355Thr) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001122028]|not provided [RCV001300373] Chr18:59436065 [GRCh38]
Chr18:57103297 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.342T>C (p.Tyr114=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001122138]|not provided [RCV002069983] Chr18:59469531 [GRCh38]
Chr18:57136763 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.171C>T (p.Tyr57=) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001122142]|not provided [RCV002069984] Chr18:59696670 [GRCh38]
Chr18:57363902 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*4710G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127417] Chr18:59431198 [GRCh38]
Chr18:57098430 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2953C>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001123425] Chr18:59432955 [GRCh38]
Chr18:57100187 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3430T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127541] Chr18:59432478 [GRCh38]
Chr18:57099710 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1148T>C (p.Leu383Pro) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127805]|not provided [RCV001856664] Chr18:59435981 [GRCh38]
Chr18:57103213 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.380G>A (p.Arg127Gln) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127895]|Inborn genetic diseases [RCV002556794]|not provided [RCV001856666] Chr18:59469493 [GRCh38]
Chr18:57136725 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1003T>C (p.Phe335Leu) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001122032]|Inborn genetic diseases [RCV002558209] Chr18:59436126 [GRCh38]
Chr18:57103358 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4738G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127416] Chr18:59431170 [GRCh38]
Chr18:57098402 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4934G>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124337]|not provided [RCV003425939] Chr18:59430974 [GRCh38]
Chr18:57098206 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.*3809C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124429] Chr18:59432099 [GRCh38]
Chr18:57099331 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1489G>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127710] Chr18:59434419 [GRCh38]
Chr18:57101651 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1401G>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127711] Chr18:59434507 [GRCh38]
Chr18:57101739 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*126G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127803] Chr18:59435782 [GRCh38]
Chr18:57103014 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1079G>A (p.Arg360Gln) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127806]|not provided [RCV001856665]|not specified [RCV001824167] Chr18:59436050 [GRCh38]
Chr18:57103282 [GRCh37]
Chr18:18q21.32		 benign|uncertain significance
NM_133459.4(CCBE1):c.545A>T (p.Asn182Ile) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127891] Chr18:59466747 [GRCh38]
Chr18:57133979 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3147T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001123424] Chr18:59432761 [GRCh38]
Chr18:57099993 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.988-154dup duplication not provided [RCV001669007] Chr18:59436290..59436291 [GRCh38]
Chr18:57103522..57103523 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.265+67C>T single nucleotide variant not provided [RCV001667704]|not specified [RCV003487658] Chr18:59480119 [GRCh38]
Chr18:57147351 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.951+314C>T single nucleotide variant not provided [RCV001691373] Chr18:59439229 [GRCh38]
Chr18:57106461 [GRCh37]
Chr18:18q21.32		 benign
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NM_133459.4(CCBE1):c.212+233A>G single nucleotide variant not provided [RCV001670615] Chr18:59696396 [GRCh38]
Chr18:57363628 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.654+214A>G single nucleotide variant not provided [RCV001708195] Chr18:59454637 [GRCh38]
Chr18:57121869 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.83C>T (p.Ala28Val) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124910] Chr18:59697260 [GRCh38]
Chr18:57364492 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3800G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125435] Chr18:59432108 [GRCh38]
Chr18:57099340 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2728A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125529]|not provided [RCV003425942] Chr18:59433180 [GRCh38]
Chr18:57100412 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*2411C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125531] Chr18:59433497 [GRCh38]
Chr18:57100729 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4282G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001123339] Chr18:59431626 [GRCh38]
Chr18:57098858 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4215A>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001123340] Chr18:59431693 [GRCh38]
Chr18:57098925 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4173A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001123341]|not provided [RCV004694768] Chr18:59431735 [GRCh38]
Chr18:57098967 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4755A>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001126995] Chr18:59431153 [GRCh38]
Chr18:57098385 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1021T>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001123627] Chr18:59434887 [GRCh38]
Chr18:57102119 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4525T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127418] Chr18:59431383 [GRCh38]
Chr18:57098615 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1052A>G (p.Glu351Gly) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001122029] Chr18:59436077 [GRCh38]
Chr18:57103309 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1036C>T (p.Arg346Cys) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001122030]|Inborn genetic diseases [RCV003372995]|not provided [RCV001856605] Chr18:59436093 [GRCh38]
Chr18:57103325 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.131+10G>A single nucleotide variant CCBE1-related disorder [RCV003906229]|Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001122143]|not provided [RCV002069985] Chr18:59697202 [GRCh38]
Chr18:57364434 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.*3182T>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127544] Chr18:59432726 [GRCh38]
Chr18:57099958 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.*2340T>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127628] Chr18:59433568 [GRCh38]
Chr18:57100800 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*4818G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001124339] Chr18:59431090 [GRCh38]
Chr18:57098322 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.460T>G (p.Leu154Val) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001127894] Chr18:59466832 [GRCh38]
Chr18:57134064 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2121C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001123531] Chr18:59433787 [GRCh38]
Chr18:57101019 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*1190C>T single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001123626] Chr18:59434718 [GRCh38]
Chr18:57101950 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.259C>T (p.Pro87Ser) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001122140]|not provided [RCV001882399] Chr18:59480192 [GRCh38]
Chr18:57147424 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*3801G>A single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125434] Chr18:59432107 [GRCh38]
Chr18:57099339 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*203A>G single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001125706] Chr18:59435705 [GRCh38]
Chr18:57102937 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_133459.4(CCBE1):c.845G>A (p.Arg282Gln) single nucleotide variant CCBE1-related disorder [RCV003416221]|Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001332863]|not provided [RCV001859302] Chr18:59439747 [GRCh38]
Chr18:57106979 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.274G>A (p.Val92Ile) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001332862]|Inborn genetic diseases [RCV002546600] Chr18:59469599 [GRCh38]
Chr18:57136831 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.901C>T (p.Arg301Trp) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV001332864]|Inborn genetic diseases [RCV003169556]|not provided [RCV002546601] Chr18:59439691 [GRCh38]
Chr18:57106923 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.289C>G (p.Pro97Ala) single nucleotide variant not provided [RCV001348999] Chr18:59469584 [GRCh38]
Chr18:57136816 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.976A>G (p.Arg326Gly) single nucleotide variant not provided [RCV001326283] Chr18:59438122 [GRCh38]
Chr18:57105354 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.929C>T (p.Ala310Val) single nucleotide variant not provided [RCV001295517] Chr18:59439565 [GRCh38]
Chr18:57106797 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) copy number gain Global developmental delay [RCV001352665] Chr18:51925586..78010032 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_133459.4(CCBE1):c.654+4C>T single nucleotide variant not provided [RCV001365698] Chr18:59454847 [GRCh38]
Chr18:57122079 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.204A>G (p.Thr68=) single nucleotide variant not provided [RCV001470807] Chr18:59696637 [GRCh38]
Chr18:57363869 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.266-156C>T single nucleotide variant not provided [RCV001540104] Chr18:59469763 [GRCh38]
Chr18:57136995 [GRCh37]
Chr18:18q21.32		 benign
GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1 copy number loss not provided [RCV001531449] Chr18:54285235..77960815 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_133459.4(CCBE1):c.400+1del deletion not provided [RCV001377110] Chr18:59469472 [GRCh38]
Chr18:57136704 [GRCh37]
Chr18:18q21.32		 likely pathogenic
NM_133459.4(CCBE1):c.776-11T>C single nucleotide variant not provided [RCV001401369] Chr18:59439827 [GRCh38]
Chr18:57107059 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.1086C>T (p.His362=) single nucleotide variant not provided [RCV001404047] Chr18:59436043 [GRCh38]
Chr18:57103275 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.132-148C>G single nucleotide variant not provided [RCV001616957] Chr18:59696857 [GRCh38]
Chr18:57364089 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.775+171C>T single nucleotide variant not provided [RCV001668902]|not specified [RCV003487637] Chr18:59447812 [GRCh38]
Chr18:57115044 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.266-45C>T single nucleotide variant not provided [RCV001695474] Chr18:59469652 [GRCh38]
Chr18:57136884 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.401-174G>T single nucleotide variant not provided [RCV001617521] Chr18:59467065 [GRCh38]
Chr18:57134297 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.655-229T>C single nucleotide variant not provided [RCV001686780] Chr18:59448332 [GRCh38]
Chr18:57115564 [GRCh37]
Chr18:18q21.32		 benign
NC_000018.10:g.59697734C>T single nucleotide variant not provided [RCV001609834] Chr18:59697734 [GRCh38]
Chr18:57364966 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.553+109A>T single nucleotide variant not provided [RCV001716425] Chr18:59466630 [GRCh38]
Chr18:57133862 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.776-19A>T single nucleotide variant not provided [RCV001503565] Chr18:59439835 [GRCh38]
Chr18:57107067 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.401-11G>C single nucleotide variant not provided [RCV001400934] Chr18:59466902 [GRCh38]
Chr18:57134134 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.432G>A (p.Thr144=) single nucleotide variant not provided [RCV003108987] Chr18:59466860 [GRCh38]
Chr18:57134092 [GRCh37]
Chr18:18q21.32		 likely benign
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) copy number loss not specified [RCV002052643] Chr18:53100584..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_133459.4(CCBE1):c.654G>C (p.Lys218Asn) single nucleotide variant not provided [RCV001928144] Chr18:59454851 [GRCh38]
Chr18:57122083 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.508G>A (p.Asp170Asn) single nucleotide variant not provided [RCV001970823] Chr18:59466784 [GRCh38]
Chr18:57134016 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.173C>T (p.Pro58Leu) single nucleotide variant not provided [RCV002045793] Chr18:59696668 [GRCh38]
Chr18:57363900 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.537A>G (p.Lys179=) single nucleotide variant not provided [RCV001891239] Chr18:59466755 [GRCh38]
Chr18:57133987 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.362G>A (p.Arg121Gln) single nucleotide variant Inborn genetic diseases [RCV003365595]|not provided [RCV001987905] Chr18:59469511 [GRCh38]
Chr18:57136743 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1120T>A (p.Phe374Ile) single nucleotide variant not provided [RCV001950430] Chr18:59436009 [GRCh38]
Chr18:57103241 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.505G>C (p.Asp169His) single nucleotide variant not provided [RCV001986965] Chr18:59466787 [GRCh38]
Chr18:57134019 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.991C>T (p.Pro331Ser) single nucleotide variant not provided [RCV001970843] Chr18:59436138 [GRCh38]
Chr18:57103370 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1045A>G (p.Ile349Val) single nucleotide variant not provided [RCV002008442] Chr18:59436084 [GRCh38]
Chr18:57103316 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) copy number loss not specified [RCV002052636] Chr18:47656799..78014123 [GRCh37]
Chr18:18q21.1-23		 pathogenic
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) copy number loss not specified [RCV002052639] Chr18:50739715..63705988 [GRCh37]
Chr18:18q21.2-22.1		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) copy number loss not specified [RCV002052641] Chr18:52675201..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_133459.4(CCBE1):c.445A>G (p.Ile149Val) single nucleotide variant not provided [RCV001893881] Chr18:59466847 [GRCh38]
Chr18:57134079 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1175G>T (p.Arg392Ile) single nucleotide variant not provided [RCV001966379] Chr18:59435954 [GRCh38]
Chr18:57103186 [GRCh37]
Chr18:18q21.32		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_133459.4(CCBE1):c.213-1G>A single nucleotide variant not provided [RCV002023698] Chr18:59480239 [GRCh38]
Chr18:57147471 [GRCh37]
Chr18:18q21.32		 likely pathogenic|conflicting interpretations of pathogenicity
NM_133459.4(CCBE1):c.310G>A (p.Asp104Asn) single nucleotide variant See cases [RCV001848602]|not provided [RCV002034768] Chr18:59469563 [GRCh38]
Chr18:57136795 [GRCh37]
Chr18:18q21.32		 pathogenic|uncertain significance
GRCh37/hg19 18q21.2-23(chr18:53309113-78014123) copy number loss not specified [RCV002052646] Chr18:53309113..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) copy number loss not specified [RCV002052642] Chr18:52837852..77989426 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_133459.4(CCBE1):c.586G>A (p.Gly196Arg) single nucleotide variant not provided [RCV002039666] Chr18:59454919 [GRCh38]
Chr18:57122151 [GRCh37]
Chr18:18q21.32		 uncertain significance
NC_000018.9:g.(?_55217944)_(58039582_?)del deletion not provided [RCV003120789] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32		 pathogenic|uncertain significance
NM_133459.4(CCBE1):c.664C>T (p.Leu222Phe) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV002074432]|not provided [RCV001892674] Chr18:59448094 [GRCh38]
Chr18:57115326 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.271G>A (p.Asp91Asn) single nucleotide variant not provided [RCV001926805] Chr18:59469602 [GRCh38]
Chr18:57136834 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.121G>A (p.Asp41Asn) single nucleotide variant not provided [RCV001872600] Chr18:59697222 [GRCh38]
Chr18:57364454 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.654+5G>C single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV002507836]|not provided [RCV002032243] Chr18:59454846 [GRCh38]
Chr18:57122078 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.668C>T (p.Pro223Leu) single nucleotide variant not provided [RCV001944669] Chr18:59448090 [GRCh38]
Chr18:57115322 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1142T>C (p.Met381Thr) single nucleotide variant not provided [RCV001962400] Chr18:59435987 [GRCh38]
Chr18:57103219 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.41G>T (p.Gly14Val) single nucleotide variant not provided [RCV001944136] Chr18:59697302 [GRCh38]
Chr18:57364534 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.927G>T (p.Gly309=) single nucleotide variant not provided [RCV001990350] Chr18:59439567 [GRCh38]
Chr18:57106799 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.949A>G (p.Lys317Glu) single nucleotide variant not provided [RCV001977289] Chr18:59439545 [GRCh38]
Chr18:57106777 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1172G>A (p.Arg391Lys) single nucleotide variant not provided [RCV001907517] Chr18:59435957 [GRCh38]
Chr18:57103189 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.344C>T (p.Pro115Leu) single nucleotide variant not provided [RCV001924835] Chr18:59469529 [GRCh38]
Chr18:57136761 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.534C>A (p.Asp178Glu) single nucleotide variant not provided [RCV001941010] Chr18:59466758 [GRCh38]
Chr18:57133990 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1037G>T (p.Arg346Leu) single nucleotide variant Inborn genetic diseases [RCV004039900]|not provided [RCV001942546] Chr18:59436092 [GRCh38]
Chr18:57103324 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1198G>A (p.Ala400Thr) single nucleotide variant not provided [RCV001960884] Chr18:59435931 [GRCh38]
Chr18:57103163 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.602C>T (p.Thr201Ile) single nucleotide variant not provided [RCV001995603] Chr18:59454903 [GRCh38]
Chr18:57122135 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.944G>A (p.Gly315Asp) single nucleotide variant not provided [RCV002050758] Chr18:59439550 [GRCh38]
Chr18:57106782 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.547G>T (p.Asp183Tyr) single nucleotide variant not provided [RCV001899252] Chr18:59466745 [GRCh38]
Chr18:57133977 [GRCh37]
Chr18:18q21.32		 uncertain significance
NC_000018.9:g.(?_55217944)_(58040587_?)dup duplication not provided [RCV001922994] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance
NM_133459.4(CCBE1):c.118G>A (p.Glu40Lys) single nucleotide variant not provided [RCV001902639] Chr18:59697225 [GRCh38]
Chr18:57364457 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.473G>A (p.Arg158His) single nucleotide variant not provided [RCV001933387] Chr18:59466819 [GRCh38]
Chr18:57134051 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.968C>A (p.Pro323His) single nucleotide variant not provided [RCV001920233] Chr18:59438130 [GRCh38]
Chr18:57105362 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.569A>G (p.Glu190Gly) single nucleotide variant not provided [RCV002030371] Chr18:59454936 [GRCh38]
Chr18:57122168 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.905G>A (p.Arg302Lys) single nucleotide variant not provided [RCV001881457] Chr18:59439687 [GRCh38]
Chr18:57106919 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.811G>A (p.Gly271Ser) single nucleotide variant not provided [RCV001904214] Chr18:59439781 [GRCh38]
Chr18:57107013 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1141A>G (p.Met381Val) single nucleotide variant not provided [RCV001885694] Chr18:59435988 [GRCh38]
Chr18:57103220 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.484C>T (p.Arg162Trp) single nucleotide variant not provided [RCV002046885] Chr18:59466808 [GRCh38]
Chr18:57134040 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.283G>A (p.Glu95Lys) single nucleotide variant not provided [RCV001920615] Chr18:59469590 [GRCh38]
Chr18:57136822 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.764A>G (p.Gln255Arg) single nucleotide variant not provided [RCV001899378] Chr18:59447994 [GRCh38]
Chr18:57115226 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.965C>T (p.Ala322Val) single nucleotide variant Inborn genetic diseases [RCV002571301]|not provided [RCV001975547] Chr18:59438133 [GRCh38]
Chr18:57105365 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.89G>T (p.Gly30Val) single nucleotide variant not provided [RCV001975555] Chr18:59697254 [GRCh38]
Chr18:57364486 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1126A>G (p.Ser376Gly) single nucleotide variant not provided [RCV001997202] Chr18:59436003 [GRCh38]
Chr18:57103235 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.116C>T (p.Pro39Leu) single nucleotide variant not provided [RCV002012140] Chr18:59697227 [GRCh38]
Chr18:57364459 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.654+4C>G single nucleotide variant CCBE1-related disorder [RCV003941207]|not provided [RCV001921807] Chr18:59454847 [GRCh38]
Chr18:57122079 [GRCh37]
Chr18:18q21.32		 likely benign|uncertain significance
NM_133459.4(CCBE1):c.485G>A (p.Arg162Gln) single nucleotide variant not provided [RCV001930313] Chr18:59466807 [GRCh38]
Chr18:57134039 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.458C>T (p.Thr153Ile) single nucleotide variant not provided [RCV002026205] Chr18:59466834 [GRCh38]
Chr18:57134066 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.500G>A (p.Arg167Gln) single nucleotide variant not provided [RCV001933032] Chr18:59466792 [GRCh38]
Chr18:57134024 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.11C>T (p.Pro4Leu) single nucleotide variant not provided [RCV001937504] Chr18:59697332 [GRCh38]
Chr18:57364564 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1072G>A (p.Gly358Arg) single nucleotide variant not provided [RCV002019690] Chr18:59436057 [GRCh38]
Chr18:57103289 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.289C>T (p.Pro97Ser) single nucleotide variant not provided [RCV001903440] Chr18:59469584 [GRCh38]
Chr18:57136816 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.699C>G (p.Ile233Met) single nucleotide variant not provided [RCV001870294] Chr18:59448059 [GRCh38]
Chr18:57115291 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.928dup (p.Ala310fs) duplication not provided [RCV002035203] Chr18:59439565..59439566 [GRCh38]
Chr18:57106797..57106798 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.800C>T (p.Pro267Leu) single nucleotide variant not provided [RCV002019156] Chr18:59439792 [GRCh38]
Chr18:57107024 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.554-3C>T single nucleotide variant not provided [RCV002019570] Chr18:59454954 [GRCh38]
Chr18:57122186 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.685C>A (p.Leu229Met) single nucleotide variant not provided [RCV002047997] Chr18:59448073 [GRCh38]
Chr18:57115305 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.361C>T (p.Arg121Trp) single nucleotide variant not provided [RCV001917784] Chr18:59469512 [GRCh38]
Chr18:57136744 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.774C>T (p.Pro258=) single nucleotide variant not provided [RCV002013559] Chr18:59447984 [GRCh38]
Chr18:57115216 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1166A>G (p.His389Arg) single nucleotide variant not provided [RCV001953956] Chr18:59435963 [GRCh38]
Chr18:57103195 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1040A>G (p.Asn347Ser) single nucleotide variant not provided [RCV001935583] Chr18:59436089 [GRCh38]
Chr18:57103321 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.212+16C>T single nucleotide variant not provided [RCV002148351] Chr18:59696613 [GRCh38]
Chr18:57363845 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.401-16del deletion not provided [RCV002125350] Chr18:59466907 [GRCh38]
Chr18:57134139 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.655-7C>T single nucleotide variant CCBE1-related disorder [RCV003923721]|not provided [RCV002110153] Chr18:59448110 [GRCh38]
Chr18:57115342 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.401-17C>T single nucleotide variant not provided [RCV002128310] Chr18:59466908 [GRCh38]
Chr18:57134140 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.212+18G>A single nucleotide variant not provided [RCV002128603] Chr18:59696611 [GRCh38]
Chr18:57363843 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.987+12del deletion not provided [RCV002206640] Chr18:59438099 [GRCh38]
Chr18:57105331 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.33T>A (p.Ala11=) single nucleotide variant not provided [RCV002107759] Chr18:59697310 [GRCh38]
Chr18:57364542 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.1047C>T (p.Ile349=) single nucleotide variant not provided [RCV002126369] Chr18:59436082 [GRCh38]
Chr18:57103314 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.708C>T (p.Asp236=) single nucleotide variant not provided [RCV002085009] Chr18:59448050 [GRCh38]
Chr18:57115282 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.1212C>T (p.Phe404=) single nucleotide variant not provided [RCV002148614] Chr18:59435917 [GRCh38]
Chr18:57103149 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.267T>C (p.Asp89=) single nucleotide variant not provided [RCV002148600] Chr18:59469606 [GRCh38]
Chr18:57136838 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.201C>G (p.Thr67=) single nucleotide variant not provided [RCV002114839] Chr18:59696640 [GRCh38]
Chr18:57363872 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.132-18C>T single nucleotide variant not provided [RCV002153555] Chr18:59696727 [GRCh38]
Chr18:57363959 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.654+13G>C single nucleotide variant not provided [RCV002126234] Chr18:59454838 [GRCh38]
Chr18:57122070 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.1005C>T (p.Phe335=) single nucleotide variant not provided [RCV002196308] Chr18:59436124 [GRCh38]
Chr18:57103356 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.444C>T (p.His148=) single nucleotide variant not provided [RCV002151764] Chr18:59466848 [GRCh38]
Chr18:57134080 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.553+17T>A single nucleotide variant not provided [RCV002097594] Chr18:59466722 [GRCh38]
Chr18:57133954 [GRCh37]
Chr18:18q21.32		 benign
NM_133459.4(CCBE1):c.633C>T (p.Thr211=) single nucleotide variant CCBE1-related disorder [RCV003978902]|not provided [RCV002193732] Chr18:59454872 [GRCh38]
Chr18:57122104 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.189A>G (p.Ser63=) single nucleotide variant CCBE1-related disorder [RCV003978565]|not provided [RCV002206868] Chr18:59696652 [GRCh38]
Chr18:57363884 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.654+20del deletion not provided [RCV002174001] Chr18:59454831 [GRCh38]
Chr18:57122063 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.1173A>G (p.Arg391=) single nucleotide variant not provided [RCV002215917] Chr18:59435956 [GRCh38]
Chr18:57103188 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.129C>T (p.Asp43=) single nucleotide variant not provided [RCV002187136] Chr18:59697214 [GRCh38]
Chr18:57364446 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.132-20T>C single nucleotide variant not provided [RCV002096784] Chr18:59696729 [GRCh38]
Chr18:57363961 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.108A>G (p.Arg36=) single nucleotide variant not provided [RCV002195684] Chr18:59697235 [GRCh38]
Chr18:57364467 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.882G>A (p.Leu294=) single nucleotide variant not provided [RCV002090557] Chr18:59439710 [GRCh38]
Chr18:57106942 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.543C>T (p.Pro181=) single nucleotide variant not provided [RCV002083259] Chr18:59466749 [GRCh38]
Chr18:57133981 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.132-14_132-13delinsCT indel not provided [RCV002135686] Chr18:59696722..59696723 [GRCh38]
Chr18:57363954..57363955 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.282C>T (p.Ala94=) single nucleotide variant CCBE1-related disorder [RCV003958677]|not provided [RCV002104086] Chr18:59469591 [GRCh38]
Chr18:57136823 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.12G>A (p.Pro4=) single nucleotide variant not provided [RCV002200546] Chr18:59697331 [GRCh38]
Chr18:57364563 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.942T>C (p.Asp314=) single nucleotide variant CCBE1-related disorder [RCV003933658]|not provided [RCV002179218] Chr18:59439552 [GRCh38]
Chr18:57106784 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.477C>T (p.Cys159=) single nucleotide variant not provided [RCV002218736] Chr18:59466815 [GRCh38]
Chr18:57134047 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.1041T>C (p.Asn347=) single nucleotide variant not provided [RCV002120003] Chr18:59436088 [GRCh38]
Chr18:57103320 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.1071C>T (p.Phe357=) single nucleotide variant not provided [RCV002163854] Chr18:59436058 [GRCh38]
Chr18:57103290 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.951+17G>T single nucleotide variant not provided [RCV002164399] Chr18:59439526 [GRCh38]
Chr18:57106758 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.988-19A>T single nucleotide variant not provided [RCV002176454] Chr18:59436160 [GRCh38]
Chr18:57103392 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.273C>T (p.Asp91=) single nucleotide variant not provided [RCV002135518] Chr18:59469600 [GRCh38]
Chr18:57136832 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.400+17C>T single nucleotide variant not provided [RCV002084379] Chr18:59469456 [GRCh38]
Chr18:57136688 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.84G>T (p.Ala28=) single nucleotide variant not provided [RCV002200705] Chr18:59697259 [GRCh38]
Chr18:57364491 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.123C>T (p.Asp41=) single nucleotide variant not provided [RCV002180143] Chr18:59697220 [GRCh38]
Chr18:57364452 [GRCh37]
Chr18:18q21.32		 likely benign
NC_000018.9:g.(?_55217944)_(58039582_?)dup duplication Combined immunodeficiency due to MALT1 deficiency [RCV003109569]|not provided [RCV003116545] Chr18:55217944..58039582 [GRCh37]
Chr18:18q21.31-21.32		 uncertain significance|no classifications from unflagged records
NC_000018.9:g.(?_55217944)_(58040587_?)del deletion Isolated microphthalmia 3 [RCV003116662]|not provided [RCV003116663] Chr18:55217944..58040587 [GRCh37]
Chr18:18q21.31-21.32		 pathogenic|no classifications from unflagged records
NC_000018.9:g.(?_57363841)_(57364574_?)del deletion not provided [RCV003123050] Chr18:57363841..57364574 [GRCh37]
Chr18:18q21.32		 pathogenic
GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1 copy number loss not provided [RCV002473956] Chr18:53624405..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
NM_133459.4(CCBE1):c.952G>T (p.Gly318Trp) single nucleotide variant not provided [RCV002469675] Chr18:59438146 [GRCh38]
Chr18:57105378 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.560A>G (p.Glu187Gly) single nucleotide variant not provided [RCV002305420] Chr18:59454945 [GRCh38]
Chr18:57122177 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.303G>T (p.Gln101His) single nucleotide variant not provided [RCV002300767] Chr18:59469570 [GRCh38]
Chr18:57136802 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1049C>T (p.Thr350Ile) single nucleotide variant not provided [RCV002303253] Chr18:59436080 [GRCh38]
Chr18:57103312 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.347G>T (p.Gly116Val) single nucleotide variant Inborn genetic diseases [RCV002682609] Chr18:59469526 [GRCh38]
Chr18:57136758 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.665T>C (p.Leu222Pro) single nucleotide variant Inborn genetic diseases [RCV002751169]|not provided [RCV002780390] Chr18:59448093 [GRCh38]
Chr18:57115325 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.916-20del deletion not provided [RCV003017708] Chr18:59439598 [GRCh38]
Chr18:57106830 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.118G>C (p.Glu40Gln) single nucleotide variant not provided [RCV002838283] Chr18:59697225 [GRCh38]
Chr18:57364457 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.844C>T (p.Arg282Trp) single nucleotide variant not provided [RCV002904031] Chr18:59439748 [GRCh38]
Chr18:57106980 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.381G>A (p.Arg127=) single nucleotide variant not provided [RCV002751051] Chr18:59469492 [GRCh38]
Chr18:57136724 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.828T>A (p.Pro276=) single nucleotide variant not provided [RCV002880981] Chr18:59439764 [GRCh38]
Chr18:57106996 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.1072_1075del (p.Gly358fs) deletion not provided [RCV003015108] Chr18:59436054..59436057 [GRCh38]
Chr18:57103286..57103289 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.208T>C (p.Tyr70His) single nucleotide variant not provided [RCV002815488] Chr18:59696633 [GRCh38]
Chr18:57363865 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.776-8G>C single nucleotide variant not provided [RCV002819377] Chr18:59439824 [GRCh38]
Chr18:57107056 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.159G>A (p.Ala53=) single nucleotide variant not provided [RCV002847738] Chr18:59696682 [GRCh38]
Chr18:57363914 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.266-11T>C single nucleotide variant not provided [RCV002740389] Chr18:59469618 [GRCh38]
Chr18:57136850 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.213-11_213-8del microsatellite not provided [RCV002639367] Chr18:59480246..59480249 [GRCh38]
Chr18:57147478..57147481 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.212+20G>A single nucleotide variant not provided [RCV002658808] Chr18:59696609 [GRCh38]
Chr18:57363841 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.654+15G>A single nucleotide variant not provided [RCV003038329] Chr18:59454836 [GRCh38]
Chr18:57122068 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.951+11T>C single nucleotide variant not provided [RCV002736195] Chr18:59439532 [GRCh38]
Chr18:57106764 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.618C>T (p.Tyr206=) single nucleotide variant not provided [RCV002800208] Chr18:59454887 [GRCh38]
Chr18:57122119 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.435G>A (p.Leu145=) single nucleotide variant not provided [RCV002571001] Chr18:59466857 [GRCh38]
Chr18:57134089 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.528G>C (p.Arg176Ser) single nucleotide variant not provided [RCV002761496] Chr18:59466764 [GRCh38]
Chr18:57133996 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.655-4G>T single nucleotide variant not provided [RCV003019604] Chr18:59448107 [GRCh38]
Chr18:57115339 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.655-10C>A single nucleotide variant not provided [RCV002658743] Chr18:59448113 [GRCh38]
Chr18:57115345 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.585C>T (p.Ala195=) single nucleotide variant not provided [RCV002795205] Chr18:59454920 [GRCh38]
Chr18:57122152 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.284A>G (p.Glu95Gly) single nucleotide variant Inborn genetic diseases [RCV002737109] Chr18:59469589 [GRCh38]
Chr18:57136821 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.309G>A (p.Thr103=) single nucleotide variant not provided [RCV002638726] Chr18:59469564 [GRCh38]
Chr18:57136796 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.775+16G>A single nucleotide variant not provided [RCV003054880] Chr18:59447967 [GRCh38]
Chr18:57115199 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.886dup (p.His296fs) duplication not provided [RCV003037975] Chr18:59439705..59439706 [GRCh38]
Chr18:57106937..57106938 [GRCh37]
Chr18:18q21.32		 pathogenic
NM_133459.4(CCBE1):c.888C>T (p.His296=) single nucleotide variant not provided [RCV003078529] Chr18:59439704 [GRCh38]
Chr18:57106936 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.213-7C>G single nucleotide variant not provided [RCV002866890] Chr18:59480245 [GRCh38]
Chr18:57147477 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.155T>C (p.Ile52Thr) single nucleotide variant not provided [RCV002736279] Chr18:59696686 [GRCh38]
Chr18:57363918 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.477C>A (p.Cys159Ter) single nucleotide variant not provided [RCV002705551] Chr18:59466815 [GRCh38]
Chr18:57134047 [GRCh37]
Chr18:18q21.32		 pathogenic
NM_133459.4(CCBE1):c.308C>A (p.Thr103Lys) single nucleotide variant not provided [RCV002622360] Chr18:59469565 [GRCh38]
Chr18:57136797 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.987+17_987+18del microsatellite not provided [RCV002622376] Chr18:59438093..59438094 [GRCh38]
Chr18:57105325..57105326 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.226A>C (p.Lys76Gln) single nucleotide variant Inborn genetic diseases [RCV002713442] Chr18:59480225 [GRCh38]
Chr18:57147457 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.864G>A (p.Met288Ile) single nucleotide variant not provided [RCV002596921] Chr18:59439728 [GRCh38]
Chr18:57106960 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.634G>A (p.Val212Met) single nucleotide variant not provided [RCV002800753] Chr18:59454871 [GRCh38]
Chr18:57122103 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.988-18T>C single nucleotide variant not provided [RCV002850863] Chr18:59436159 [GRCh38]
Chr18:57103391 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.2T>C (p.Met1Thr) single nucleotide variant Inborn genetic diseases [RCV002873330] Chr18:59697341 [GRCh38]
Chr18:57364573 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.746C>T (p.Pro249Leu) single nucleotide variant not provided [RCV002801946] Chr18:59448012 [GRCh38]
Chr18:57115244 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.824C>T (p.Pro275Leu) single nucleotide variant not provided [RCV002572773] Chr18:59439768 [GRCh38]
Chr18:57107000 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.660T>C (p.Ala220=) single nucleotide variant not provided [RCV003057082] Chr18:59448098 [GRCh38]
Chr18:57115330 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.916-2A>T single nucleotide variant not provided [RCV002810789] Chr18:59439580 [GRCh38]
Chr18:57106812 [GRCh37]
Chr18:18q21.32		 likely pathogenic
NM_133459.4(CCBE1):c.1111C>T (p.Pro371Ser) single nucleotide variant not provided [RCV003048813] Chr18:59436018 [GRCh38]
Chr18:57103250 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.727A>G (p.Thr243Ala) single nucleotide variant Inborn genetic diseases [RCV002940904] Chr18:59448031 [GRCh38]
Chr18:57115263 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.66G>A (p.Pro22=) single nucleotide variant not provided [RCV002877200] Chr18:59697277 [GRCh38]
Chr18:57364509 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.166A>G (p.Lys56Glu) single nucleotide variant Inborn genetic diseases [RCV002669318] Chr18:59696675 [GRCh38]
Chr18:57363907 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.596G>A (p.Cys199Tyr) single nucleotide variant not provided [RCV002600112] Chr18:59454909 [GRCh38]
Chr18:57122141 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1196G>A (p.Arg399Lys) single nucleotide variant not provided [RCV002988853] Chr18:59435933 [GRCh38]
Chr18:57103165 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.345G>A (p.Pro115=) single nucleotide variant not provided [RCV002578836] Chr18:59469528 [GRCh38]
Chr18:57136760 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.70C>A (p.Leu24Met) single nucleotide variant Inborn genetic diseases [RCV003382912]|not provided [RCV002646526] Chr18:59697273 [GRCh38]
Chr18:57364505 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.700A>G (p.Thr234Ala) single nucleotide variant Inborn genetic diseases [RCV002988618]|not provided [RCV002988619] Chr18:59448058 [GRCh38]
Chr18:57115290 [GRCh37]
Chr18:18q21.32		 conflicting interpretations of pathogenicity|uncertain significance
NM_133459.4(CCBE1):c.347G>C (p.Gly116Ala) single nucleotide variant not provided [RCV003047775] Chr18:59469526 [GRCh38]
Chr18:57136758 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1217C>A (p.Pro406Gln) single nucleotide variant not provided [RCV002602223] Chr18:59435912 [GRCh38]
Chr18:57103144 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.806T>C (p.Phe269Ser) single nucleotide variant not provided [RCV002631143] Chr18:59439786 [GRCh38]
Chr18:57107018 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.553+8G>A single nucleotide variant not provided [RCV003010358] Chr18:59466731 [GRCh38]
Chr18:57133963 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.6G>A (p.Val2=) single nucleotide variant not provided [RCV002832752] Chr18:59697337 [GRCh38]
Chr18:57364569 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.212+13G>A single nucleotide variant not provided [RCV003031093] Chr18:59696616 [GRCh38]
Chr18:57363848 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.193G>A (p.Glu65Lys) single nucleotide variant not provided [RCV002658039] Chr18:59696648 [GRCh38]
Chr18:57363880 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.131+18C>T single nucleotide variant not provided [RCV002676863] Chr18:59697194 [GRCh38]
Chr18:57364426 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.138C>A (p.Ile46=) single nucleotide variant not provided [RCV002605654] Chr18:59696703 [GRCh38]
Chr18:57363935 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.553+18A>G single nucleotide variant not provided [RCV002653170] Chr18:59466721 [GRCh38]
Chr18:57133953 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.578T>C (p.Val193Ala) single nucleotide variant not provided [RCV003051829] Chr18:59454927 [GRCh38]
Chr18:57122159 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.775+19A>G single nucleotide variant not provided [RCV002653737] Chr18:59447964 [GRCh38]
Chr18:57115196 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.775+17G>A single nucleotide variant not provided [RCV002587195] Chr18:59447966 [GRCh38]
Chr18:57115198 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.1037G>A (p.Arg346His) single nucleotide variant not provided [RCV002587439] Chr18:59436092 [GRCh38]
Chr18:57103324 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.606C>T (p.Cys202=) single nucleotide variant not provided [RCV003051763] Chr18:59454899 [GRCh38]
Chr18:57122131 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.859C>T (p.Pro287Ser) single nucleotide variant not provided [RCV002725553] Chr18:59439733 [GRCh38]
Chr18:57106965 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.56G>A (p.Ser19Asn) single nucleotide variant not provided [RCV002606684] Chr18:59697287 [GRCh38]
Chr18:57364519 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.920C>T (p.Pro307Leu) single nucleotide variant Inborn genetic diseases [RCV003195827] Chr18:59439574 [GRCh38]
Chr18:57106806 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.23G>T (p.Arg8Leu) single nucleotide variant Inborn genetic diseases [RCV003284750] Chr18:59697320 [GRCh38]
Chr18:57364552 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.21C>A (p.Ser7Arg) single nucleotide variant Inborn genetic diseases [RCV003199753] Chr18:59697322 [GRCh38]
Chr18:57364554 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.28G>A (p.Gly10Arg) single nucleotide variant Inborn genetic diseases [RCV003374144] Chr18:59697315 [GRCh38]
Chr18:57364547 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.889A>G (p.Ile297Val) single nucleotide variant Inborn genetic diseases [RCV003349728] Chr18:59439703 [GRCh38]
Chr18:57106935 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.140G>C (p.Cys47Ser) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV003448878] Chr18:59696701 [GRCh38]
Chr18:57363933 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.2T>G (p.Met1Arg) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV003447905]|Renal tubular acidosis, distal, 4, with hemolytic anemia [RCV003447906] Chr18:59697341 [GRCh38]
Chr18:57364573 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.808C>T (p.Pro270Ser) single nucleotide variant not provided [RCV003423105] Chr18:59439784 [GRCh38]
Chr18:57107016 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.190G>A (p.Gly64Ser) single nucleotide variant CCBE1-related disorder [RCV003402607]|Inborn genetic diseases [RCV004362856] Chr18:59696651 [GRCh38]
Chr18:57363883 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.253T>C (p.Cys85Arg) single nucleotide variant CCBE1-related disorder [RCV003408385] Chr18:59480198 [GRCh38]
Chr18:57147430 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.94_95dup (p.Trp33fs) microsatellite CCBE1-related disorder [RCV003408417] Chr18:59697247..59697248 [GRCh38]
Chr18:57364479..57364480 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.*2403dup duplication not provided [RCV003421661] Chr18:59433504..59433505 [GRCh38]
Chr18:57100736..57100737 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.174G>C (p.Pro58=) single nucleotide variant not provided [RCV003421662] Chr18:59696667 [GRCh38]
Chr18:57363899 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.213-5C>T single nucleotide variant not provided [RCV003829430] Chr18:59480243 [GRCh38]
Chr18:57147475 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.270C>T (p.Tyr90=) single nucleotide variant not provided [RCV003739715] Chr18:59469603 [GRCh38]
Chr18:57136835 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.951+7C>T single nucleotide variant not provided [RCV003827516] Chr18:59439536 [GRCh38]
Chr18:57106768 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.491G>A (p.Gly164Asp) single nucleotide variant not provided [RCV003577135] Chr18:59466801 [GRCh38]
Chr18:57134033 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.612G>A (p.Glu204=) single nucleotide variant not provided [RCV003829905] Chr18:59454893 [GRCh38]
Chr18:57122125 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.501G>A (p.Arg167=) single nucleotide variant CCBE1-related disorder [RCV003893561]|not provided [RCV003878879] Chr18:59466791 [GRCh38]
Chr18:57134023 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.265+1G>A single nucleotide variant not provided [RCV003572283] Chr18:59480185 [GRCh38]
Chr18:57147417 [GRCh37]
Chr18:18q21.32		 likely pathogenic
NM_133459.4(CCBE1):c.717G>A (p.Leu239=) single nucleotide variant not provided [RCV003661762] Chr18:59448041 [GRCh38]
Chr18:57115273 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.909C>A (p.Gly303=) single nucleotide variant not provided [RCV003713001] Chr18:59439683 [GRCh38]
Chr18:57106915 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.212+19C>A single nucleotide variant not provided [RCV003834210] Chr18:59696610 [GRCh38]
Chr18:57363842 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.952-11T>C single nucleotide variant not provided [RCV003855472] Chr18:59438157 [GRCh38]
Chr18:57105389 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.252A>G (p.Gln84=) single nucleotide variant not provided [RCV003672651] Chr18:59480199 [GRCh38]
Chr18:57147431 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.322C>T (p.Arg108Ter) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV003994598]|not provided [RCV003855825] Chr18:59469551 [GRCh38]
Chr18:57136783 [GRCh37]
Chr18:18q21.32		 pathogenic
NM_133459.4(CCBE1):c.37_58del (p.Arg13fs) deletion not provided [RCV003559589] Chr18:59697285..59697306 [GRCh38]
Chr18:57364517..57364538 [GRCh37]
Chr18:18q21.32		 pathogenic
NM_133459.4(CCBE1):c.672C>T (p.Asn224=) single nucleotide variant Inborn genetic diseases [RCV004605018]|not provided [RCV003725534] Chr18:59448086 [GRCh38]
Chr18:57115318 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.57C>A (p.Ser19Arg) single nucleotide variant not provided [RCV003560713] Chr18:59697286 [GRCh38]
Chr18:57364518 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.131+11_131+12insT insertion not provided [RCV003832806] Chr18:59697200..59697201 [GRCh38]
Chr18:57364432..57364433 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.554-12C>T single nucleotide variant not provided [RCV003667185] Chr18:59454963 [GRCh38]
Chr18:57122195 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.213-19A>G single nucleotide variant not provided [RCV003675340] Chr18:59480257 [GRCh38]
Chr18:57147489 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.234T>C (p.Tyr78=) single nucleotide variant not provided [RCV003681999] Chr18:59480217 [GRCh38]
Chr18:57147449 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.693G>A (p.Lys231=) single nucleotide variant not provided [RCV003861845] Chr18:59448065 [GRCh38]
Chr18:57115297 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.567T>G (p.Ser189=) single nucleotide variant not provided [RCV003706764] Chr18:59454938 [GRCh38]
Chr18:57122170 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.105C>T (p.Tyr35=) single nucleotide variant not provided [RCV003846782] Chr18:59697238 [GRCh38]
Chr18:57364470 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.131+14G>A single nucleotide variant not provided [RCV003709071] Chr18:59697198 [GRCh38]
Chr18:57364430 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.775+7G>T single nucleotide variant not provided [RCV003729210] Chr18:59447976 [GRCh38]
Chr18:57115208 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.916-20C>T single nucleotide variant not provided [RCV003863576] Chr18:59439598 [GRCh38]
Chr18:57106830 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.987+13_987+14del microsatellite not provided [RCV003676292] Chr18:59438097..59438098 [GRCh38]
Chr18:57105329..57105330 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.1164C>T (p.Asp388=) single nucleotide variant not provided [RCV003867285] Chr18:59435965 [GRCh38]
Chr18:57103197 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.639G>A (p.Leu213=) single nucleotide variant not provided [RCV003733147] Chr18:59454866 [GRCh38]
Chr18:57122098 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.687G>A (p.Leu229=) single nucleotide variant not provided [RCV003863656] Chr18:59448071 [GRCh38]
Chr18:57115303 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.792G>A (p.Lys264=) single nucleotide variant not provided [RCV003866978] Chr18:59439800 [GRCh38]
Chr18:57107032 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.429G>A (p.Gly143=) single nucleotide variant not provided [RCV003866830] Chr18:59466863 [GRCh38]
Chr18:57134095 [GRCh37]
Chr18:18q21.32		 likely benign
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 copy number loss not specified [RCV003986103] Chr18:48766173..78014123 [GRCh37]
Chr18:18q21.2-23		 pathogenic
GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1 copy number loss not specified [RCV003987273] Chr18:55363398..78014123 [GRCh37]
Chr18:18q21.31-23		 pathogenic
NM_133459.4(CCBE1):c.465C>T (p.Gly155=) single nucleotide variant not provided [RCV003679432] Chr18:59466827 [GRCh38]
Chr18:57134059 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.654+9C>T single nucleotide variant not provided [RCV003734096] Chr18:59454842 [GRCh38]
Chr18:57122074 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.519A>C (p.Thr173=) single nucleotide variant not provided [RCV003675282] Chr18:59466773 [GRCh38]
Chr18:57134005 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.1101G>A (p.Glu367=) single nucleotide variant not provided [RCV003863642] Chr18:59436028 [GRCh38]
Chr18:57103260 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.353G>T (p.Arg118Leu) single nucleotide variant not provided [RCV003847391] Chr18:59469520 [GRCh38]
Chr18:57136752 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.916-19A>C single nucleotide variant not provided [RCV003681317] Chr18:59439597 [GRCh38]
Chr18:57106829 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.915+15A>G single nucleotide variant not provided [RCV003863129] Chr18:59439662 [GRCh38]
Chr18:57106894 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.1200C>T (p.Ala400=) single nucleotide variant not provided [RCV003858971] Chr18:59435929 [GRCh38]
Chr18:57103161 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.131+5G>A single nucleotide variant CCBE1-related disorder [RCV003971375] Chr18:59697207 [GRCh38]
Chr18:57364439 [GRCh37]
Chr18:18q21.32		 likely benign
NM_133459.4(CCBE1):c.293G>A (p.Cys98Tyr) single nucleotide variant Hennekam lymphangiectasia-lymphedema syndrome 1 [RCV004555351] Chr18:59469580 [GRCh38]
Chr18:57136812 [GRCh37]
Chr18:18q21.32		 likely pathogenic
NM_133459.4(CCBE1):c.23G>A (p.Arg8Gln) single nucleotide variant Inborn genetic diseases [RCV004432576] Chr18:59697320 [GRCh38]
Chr18:57364552 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.943G>A (p.Gly315Ser) single nucleotide variant Inborn genetic diseases [RCV004432578] Chr18:59439551 [GRCh38]
Chr18:57106783 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.248G>A (p.Gly83Glu) single nucleotide variant Inborn genetic diseases [RCV004609803] Chr18:59480203 [GRCh38]
Chr18:57147435 [GRCh37]
Chr18:18q21.32		 uncertain significance
NC_000018.9:g.(?_56936236)_(57147490_?)dup duplication not provided [RCV004579869] Chr18:56936236..57147490 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.630G>C (p.Gln210His) single nucleotide variant Inborn genetic diseases [RCV004602766] Chr18:59454875 [GRCh38]
Chr18:57122107 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.576G>A (p.Met192Ile) single nucleotide variant Inborn genetic diseases [RCV004602767] Chr18:59454929 [GRCh38]
Chr18:57122161 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.458C>A (p.Thr153Asn) single nucleotide variant CCBE1-related disorder [RCV004755276] Chr18:59466834 [GRCh38]
Chr18:57134066 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.601A>G (p.Thr201Ala) single nucleotide variant CCBE1-related disorder [RCV004755356] Chr18:59454904 [GRCh38]
Chr18:57122136 [GRCh37]
Chr18:18q21.32		 uncertain significance
NM_133459.4(CCBE1):c.1214A>G (p.Tyr405Cys) single nucleotide variant CCBE1-related disorder [RCV004730785] Chr18:59435915 [GRCh38]
Chr18:57103147 [GRCh37]
Chr18:18q21.32		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2412
Count of miRNA genes:1031
Interacting mature miRNAs:1237
Transcripts:ENST00000398179, ENST00000439986, ENST00000589116, ENST00000589419
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407335175GWAS984151_Hmean corpuscular hemoglobin QTL GWAS984151 (human)2e-13mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)185966116459661165Human
407406856GWAS1055832_Hurate measurement, bone density QTL GWAS1055832 (human)3e-08bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)185944591759445918Human
407151301GWAS800277_Hbrain volume measurement QTL GWAS800277 (human)4e-08brain volume measurementbrain morphological measurement (CMO:0000136)185956455659564557Human
406993542GWAS642518_Hmean corpuscular hemoglobin concentration QTL GWAS642518 (human)2e-12mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)185964182759641828Human
407406860GWAS1055836_Hurate measurement, bone density QTL GWAS1055836 (human)9e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)185955095959550960Human
406964360GWAS613336_HCOVID-19 QTL GWAS613336 (human)1e-08COVID-19185944322759443228Human
407260175GWAS909151_Hviral load QTL GWAS909151 (human)6e-16viral load185951935459519355Human
407309966GWAS958942_Hserum albumin measurement QTL GWAS958942 (human)2e-08serum albumin measurementserum albumin level (CMO:0000550)185951435659514357Human
407051343GWAS700319_Htriacylglycerol 48:0 measurement QTL GWAS700319 (human)0.000009blood triglyceride amount (VT:0002644)185964337659643377Human
406944396GWAS593372_HPR interval QTL GWAS593372 (human)7e-12PR intervalPR interval (CMO:0000233)185947172559471726Human
406999884GWAS648860_Hmean platelet volume QTL GWAS648860 (human)8e-11mean platelet volumemean platelet volume (CMO:0001348)185964272059642721Human
407043926GWAS692902_Hmean corpuscular volume QTL GWAS692902 (human)5e-10mean corpuscular volumemean corpuscular volume (CMO:0000038)185966116459661165Human
407050004GWAS698980_Hunipolar depression QTL GWAS698980 (human)0.000003unipolar depression185964757559647576Human
406994840GWAS643816_Hmean corpuscular volume QTL GWAS643816 (human)7e-18mean corpuscular volumemean corpuscular volume (CMO:0000038)185966116459661165Human
407034142GWAS683118_Hthyroid stimulating hormone measurement QTL GWAS683118 (human)1e-19thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)185951671659516717Human
407034140GWAS683116_Hthyroid stimulating hormone measurement QTL GWAS683116 (human)9e-24thyroid stimulating hormone measurementblood thyroid stimulating hormone level (CMO:0001247)185951329959513300Human
407361305GWAS1010281_Hplatelet count QTL GWAS1010281 (human)4e-14platelet quantity (VT:0003179)platelet count (CMO:0000029)185967795859677959Human
407172580GWAS821556_Hserum albumin measurement QTL GWAS821556 (human)8e-14serum albumin measurementserum albumin level (CMO:0000550)185952306959523070Human
406991459GWAS640435_Hreticulocyte count QTL GWAS640435 (human)4e-15reticulocyte counttotal reticulocyte count (CMO:0003020)185966116459661165Human
407109088GWAS758064_Hplatelet crit QTL GWAS758064 (human)2e-11platelet critplateletcrit (CMO:0001349)185967795859677959Human
407392622GWAS1041598_Hurate measurement, bone density QTL GWAS1041598 (human)3e-10bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)185944591759445918Human
407006373GWAS655349_Hmean corpuscular hemoglobin QTL GWAS655349 (human)6e-14mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)185966116459661165Human
407037930GWAS686906_Helectrocardiography QTL GWAS686906 (human)2e-08electrocardiography185950126659501267Human
407261038GWAS910014_Hcalcium measurement QTL GWAS910014 (human)7e-09calcium measurementblood calcium level (CMO:0000502)185950126659501267Human
407037931GWAS686907_Helectrocardiography QTL GWAS686907 (human)4e-08electrocardiography185950126659501267Human
406990312GWAS639288_Hreticulocyte measurement QTL GWAS639288 (human)3e-17reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)185966116459661165Human
407115054GWAS764030_Hheel bone mineral density QTL GWAS764030 (human)4e-11heel bone mineral densitybone mineral density (CMO:0001226)185966116459661165Human
407044648GWAS693624_Hplatelet count QTL GWAS693624 (human)6e-21platelet quantity (VT:0003179)platelet count (CMO:0000029)185967795859677959Human
407078632GWAS727608_Htotal blood protein measurement QTL GWAS727608 (human)1e-12total blood protein measurementblood protein measurement (CMO:0000028)185950126659501267Human
407173615GWAS822591_Happendicular lean mass QTL GWAS822591 (human)1e-15appendicular lean mass185951567659515677Human
407253485GWAS902461_Hserum albumin measurement QTL GWAS902461 (human)7e-14serum albumin measurementserum albumin level (CMO:0000550)185950126659501267Human
406913133GWAS562109_Hunipolar depression, bipolar disorder, schizophrenia QTL GWAS562109 (human)0.000007unipolar depression, bipolar disorder, schizophrenia185954479459544795Human
407164649GWAS813625_Hlipid measurement QTL GWAS813625 (human)0.000008lipid measurementblood lipid measurement (CMO:0000050)185943509459435095Human
407001965GWAS650941_Hmean corpuscular volume QTL GWAS650941 (human)1e-14reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)185966116459661165Human
407044204GWAS693180_Hplatelet count QTL GWAS693180 (human)1e-22platelet quantity (VT:0003179)platelet count (CMO:0000029)185967795859677959Human
407237738GWAS886714_Hbody height QTL GWAS886714 (human)5e-08body height (VT:0001253)body height (CMO:0000106)185951034359510344Human
406995635GWAS644611_Hmean corpuscular hemoglobin concentration QTL GWAS644611 (human)2e-14mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)185962529959625300Human
407079159GWAS728135_Hgut microbiome measurement QTL GWAS728135 (human)0.0000002gut microbiome measurement185950900159509002Human
406893046GWAS542022_Hresponse to beta blocker, heart rate QTL GWAS542022 (human)0.000003response to beta blocker, heart rateheart rate (CMO:0000002)185955217259552173Human
407110898GWAS759874_Hmean corpuscular hemoglobin QTL GWAS759874 (human)6e-18mean corpuscular hemoglobinmean corpuscular hemoglobin (CMO:0000290)185966116459661165Human
407104628GWAS753604_Hplatelet count QTL GWAS753604 (human)2e-15platelet quantity (VT:0003179)platelet count (CMO:0000029)185967795859677959Human
406947834GWAS596810_HPR interval QTL GWAS596810 (human)1e-11PR intervalPR interval (CMO:0000233)185947172559471726Human
406998777GWAS647753_Hreticulocyte measurement QTL GWAS647753 (human)4e-09reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)185966116459661165Human
406957437GWAS606413_Hage-related hearing impairment QTL GWAS606413 (human)0.0000004age-related hearing impairment185948480659484807Human
407113658GWAS762634_Hreticulocyte count QTL GWAS762634 (human)3e-12mean corpuscular volumemean corpuscular volume (CMO:0000038)185966116459661165Human

Markers in Region
RH103885  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,098,231 - 57,098,360UniSTSGRCh37
Build 361855,249,211 - 55,249,340RGDNCBI36
Celera1853,816,052 - 53,816,181RGD
Cytogenetic Map18q21.32UniSTS
HuRef1853,807,332 - 53,807,461UniSTS
GeneMap99-GB4 RH Map18404.74UniSTS
SHGC-84515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,136,165 - 57,136,398UniSTSGRCh37
Build 361855,287,145 - 55,287,378RGDNCBI36
Celera1853,853,999 - 53,854,232RGD
Cytogenetic Map18q21.32UniSTS
HuRef1853,845,283 - 53,845,516UniSTS
TNG Radiation Hybrid Map1823109.0UniSTS
RH122929  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,354,203 - 57,354,480UniSTSGRCh37
Build 361855,505,183 - 55,505,460RGDNCBI36
Celera1854,072,268 - 54,072,545RGD
Cytogenetic Map18q21.32UniSTS
HuRef1854,063,625 - 54,063,902UniSTS
TNG Radiation Hybrid Map1823213.0UniSTS
D17S1644E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,274,124 - 57,274,196UniSTSGRCh37
GRCh371738,249,963 - 38,250,035UniSTSGRCh37
Build 361735,503,489 - 35,503,561RGDNCBI36
Celera1853,992,186 - 53,992,258UniSTS
Celera1734,910,073 - 34,910,145RGD
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q11.2UniSTS
HuRef1853,983,549 - 53,983,621UniSTS
HuRef1734,043,699 - 34,043,771UniSTS
D18S1003  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,356,918 - 57,357,186UniSTSGRCh37
Build 361855,507,898 - 55,508,166RGDNCBI36
Celera1854,074,983 - 54,075,251RGD
Cytogenetic Map18q21.32UniSTS
HuRef1854,066,340 - 54,066,608UniSTS
SHGC-145395  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,252,124 - 57,252,404UniSTSGRCh37
Build 361855,403,104 - 55,403,384RGDNCBI36
Celera1853,970,524 - 53,970,804RGD
Cytogenetic Map18q21.32UniSTS
HuRef1853,961,563 - 53,961,843UniSTS
TNG Radiation Hybrid Map1823170.0UniSTS
SHGC-34476  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,280,099 - 57,280,248UniSTSGRCh37
Build 361855,431,079 - 55,431,228RGDNCBI36
Celera1853,998,161 - 53,998,310RGD
Cytogenetic Map18q21.32UniSTS
HuRef1853,989,524 - 53,989,673UniSTS
GeneMap99-GB4 RH Map18402.82UniSTS
Whitehead-RH Map18451.1UniSTS
NCBI RH Map18745.0UniSTS
SHGC-155286  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,169,485 - 57,169,818UniSTSGRCh37
Build 361855,320,465 - 55,320,798RGDNCBI36
Celera1853,887,819 - 53,888,158RGD
Cytogenetic Map18q21.32UniSTS
HuRef1853,878,825 - 53,879,164UniSTS
TNG Radiation Hybrid Map1823119.0UniSTS
RH16234  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,280,155 - 57,280,303UniSTSGRCh37
Build 361855,431,135 - 55,431,283RGDNCBI36
Celera1853,998,217 - 53,998,365RGD
Cytogenetic Map18q21.32UniSTS
HuRef1853,989,580 - 53,989,728UniSTS
GeneMap99-GB4 RH Map18399.4UniSTS
NCBI RH Map18753.2UniSTS
STS-H68552  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,101,577 - 57,101,755UniSTSGRCh37
Build 361855,252,557 - 55,252,735RGDNCBI36
Celera1853,819,401 - 53,819,579RGD
Cytogenetic Map18q21.32UniSTS
HuRef1853,810,683 - 53,810,861UniSTS
GeneMap99-GB4 RH Map18400.42UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
D10S16   No map positions available.
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS
sY3084  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map4q27UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q32.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3q12.3UniSTS
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
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2410 2779 2236 4900 1698 2319 4 602 1587 444 2267 6835 6076 51 3666 814 1718 1607 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB075863 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC090213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF087966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF434122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF515087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX782134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EY892390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC883734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000398179   ⟹   ENSP00000381241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,430,940 - 59,480,240 (-)Ensembl
Ensembl Acc Id: ENST00000439986   ⟹   ENSP00000404464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,430,939 - 59,697,423 (-)Ensembl
Ensembl Acc Id: ENST00000589116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,435,145 - 59,455,212 (-)Ensembl
Ensembl Acc Id: ENST00000589419   ⟹   ENSP00000467710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,435,188 - 59,666,290 (-)Ensembl
Ensembl Acc Id: ENST00000649564   ⟹   ENSP00000497183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,430,939 - 59,697,662 (-)Ensembl
Ensembl Acc Id: ENST00000650467   ⟹   ENSP00000496897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,430,939 - 59,697,439 (-)Ensembl
Ensembl Acc Id: ENST00000695903   ⟹   ENSP00000512255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,434,012 - 59,697,383 (-)Ensembl
Ensembl Acc Id: ENST00000695904   ⟹   ENSP00000512259
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1859,434,012 - 59,697,402 (-)Ensembl
RefSeq Acc Id: NM_133459   ⟹   NP_597716
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,430,939 - 59,697,423 (-)NCBI
GRCh371857,098,171 - 57,364,860 (-)NCBI
Build 361855,252,124 - 55,515,570 (-)NCBI Archive
Celera1853,815,992 - 54,082,692 (-)RGD
HuRef1853,807,272 - 54,074,065 (-)RGD
CHM1_11857,093,481 - 57,360,274 (-)NCBI
T2T-CHM13v2.01859,632,718 - 59,900,065 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017025557   ⟹   XP_016881046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,430,939 - 59,697,721 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017025558   ⟹   XP_016881047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,430,939 - 59,697,423 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451091   ⟹   XP_024306859
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,430,939 - 59,697,721 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437301   ⟹   XP_047293257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,430,939 - 59,697,721 (-)NCBI
RefSeq Acc Id: XM_047437302   ⟹   XP_047293258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381859,430,939 - 59,697,721 (-)NCBI
RefSeq Acc Id: XM_054318206   ⟹   XP_054174181
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01859,632,718 - 59,900,788 (-)NCBI
RefSeq Acc Id: XM_054318207   ⟹   XP_054174182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01859,632,718 - 59,900,785 (-)NCBI
RefSeq Acc Id: XM_054318208   ⟹   XP_054174183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01859,632,718 - 59,900,785 (-)NCBI
RefSeq Acc Id: XM_054318209   ⟹   XP_054174184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01859,632,718 - 59,900,065 (-)NCBI
RefSeq Acc Id: NP_597716   ⟸   NM_133459
- Peptide Label: precursor
- UniProtKB: Q86SS2 (UniProtKB/Swiss-Prot),   Q6MZX5 (UniProtKB/Swiss-Prot),   Q8TF19 (UniProtKB/Swiss-Prot),   Q6UXH8 (UniProtKB/Swiss-Prot),   A0A3B3IRL6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881046   ⟸   XM_017025557
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3WKU1 (UniProtKB/TrEMBL),   A0A8Q3WKU2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881047   ⟸   XM_017025558
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024306859   ⟸   XM_024451091
- Peptide Label: isoform X2
- UniProtKB: Q86SS2 (UniProtKB/Swiss-Prot),   Q6UXH8 (UniProtKB/Swiss-Prot),   Q6MZX5 (UniProtKB/Swiss-Prot),   Q8TF19 (UniProtKB/Swiss-Prot),   A0A3B3IRL6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000381241   ⟸   ENST00000398179
Ensembl Acc Id: ENSP00000497183   ⟸   ENST00000649564
Ensembl Acc Id: ENSP00000404464   ⟸   ENST00000439986
Ensembl Acc Id: ENSP00000496897   ⟸   ENST00000650467
Ensembl Acc Id: ENSP00000467710   ⟸   ENST00000589419
Ensembl Acc Id: ENSP00000512259   ⟸   ENST00000695904
Ensembl Acc Id: ENSP00000512255   ⟸   ENST00000695903
RefSeq Acc Id: XP_047293258   ⟸   XM_047437302
- Peptide Label: isoform X2
- UniProtKB: Q86SS2 (UniProtKB/Swiss-Prot),   Q6UXH8 (UniProtKB/Swiss-Prot),   Q6MZX5 (UniProtKB/Swiss-Prot),   Q8TF19 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047293257   ⟸   XM_047437301
- Peptide Label: isoform X1
- UniProtKB: A0A8Q3WKU1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174181   ⟸   XM_054318206
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174182   ⟸   XM_054318207
- Peptide Label: isoform X2
- UniProtKB: Q86SS2 (UniProtKB/Swiss-Prot),   Q6UXH8 (UniProtKB/Swiss-Prot),   Q6MZX5 (UniProtKB/Swiss-Prot),   Q8TF19 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054174183   ⟸   XM_054318208
- Peptide Label: isoform X2
- UniProtKB: Q86SS2 (UniProtKB/Swiss-Prot),   Q6UXH8 (UniProtKB/Swiss-Prot),   Q6MZX5 (UniProtKB/Swiss-Prot),   Q8TF19 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054174184   ⟸   XM_054318209
- Peptide Label: isoform X3