CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1) - Rat Genome Database

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Gene: CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1) Homo sapiens
Analyze
Symbol: CELSR1
Name: cadherin EGF LAG seven-pass G-type receptor 1
RGD ID: 1354258
HGNC Page HGNC:1850
Description: Predicted to enable G protein-coupled receptor activity and calcium ion binding activity. Predicted to be involved in cell-cell adhesion; establishment of planar polarity; and neural tube closure. Predicted to act upstream of or within several processes, including apical protein localization; morphogenesis of an epithelium; and motor neuron migration. Located in nucleoplasm and plasma membrane. Implicated in hereditary lymphedema.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADGRC1; adhesion G protein-coupled receptor C1; cadherin family member 9; cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila); CDHF9; DKFZp434P0729; flamingo homolog 2; FMI2; HFMI2; LMPHM9; ME2; protocadherin flamingo 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CELSR1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382246,361,174 - 46,537,620 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2246,360,834 - 46,537,620 (-)EnsemblGRCh38hg38GRCh38
GRCh372246,757,071 - 46,933,517 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362245,135,395 - 45,311,731 (-)NCBINCBI36Build 36hg18NCBI36
Build 342245,077,249 - 45,253,586NCBI
Celera2230,664,148 - 30,840,512 (-)NCBICelera
Cytogenetic Map22q13.31NCBI
HuRef2229,700,771 - 29,879,343 (-)NCBIHuRef
CHM1_12246,715,504 - 46,891,675 (-)NCBICHM1_1
T2T-CHM13v2.02246,845,906 - 47,025,248 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
clobetasol  (ISO)
cobalt dichloride  (EXP,ISO)
cyclosporin A  (ISO)
D-glucose  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (EXP,ISO)
doxorubicin  (EXP)
ethanol  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
fucoxanthin  (ISO)
fulvestrant  (EXP)
gentamycin  (ISO)
glucose  (ISO)
inulin  (ISO)
L-methionine  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methapyrilene  (EXP)
methotrexate  (ISO)
methoxychlor  (ISO)
methylmercury chloride  (EXP,ISO)
N-ethyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
sodium arsenite  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
endomembrane system  (IEA)
membrane  (IEA,TAS)
nucleoplasm  (IDA)
plasma membrane  (IDA,IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Planar cell polarity signaling in vertebrates. Jones C and Chen P, Bioessays. 2007 Feb;29(2):120-32.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9339365   PMID:10380929   PMID:10591208   PMID:10716726   PMID:10835267   PMID:11086974   PMID:11807409   PMID:12477932   PMID:12782967   PMID:15489334   PMID:16009131   PMID:16169070  
PMID:19403135   PMID:19851296   PMID:20198315   PMID:20223754   PMID:20379614   PMID:21511255   PMID:21873635   PMID:21875946   PMID:22095531   PMID:22371354   PMID:23792146   PMID:24431302  
PMID:24632739   PMID:25117632   PMID:25855559   PMID:26186194   PMID:27301287   PMID:27597235   PMID:27854507   PMID:28380382   PMID:28514442   PMID:29117863   PMID:29507755   PMID:31113495  
PMID:31215153   PMID:31403174   PMID:31527615   PMID:32070035   PMID:32356230   PMID:32640974   PMID:33961781   PMID:34079125   PMID:34435352   PMID:34732716   PMID:35133174   PMID:35696571  
PMID:35748872   PMID:36215168   PMID:36453712   PMID:37224017   PMID:37225411   PMID:37232218   PMID:38070011   PMID:38272662   PMID:38307021  


Genomics

Comparative Map Data
CELSR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382246,361,174 - 46,537,620 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2246,360,834 - 46,537,620 (-)EnsemblGRCh38hg38GRCh38
GRCh372246,757,071 - 46,933,517 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362245,135,395 - 45,311,731 (-)NCBINCBI36Build 36hg18NCBI36
Build 342245,077,249 - 45,253,586NCBI
Celera2230,664,148 - 30,840,512 (-)NCBICelera
Cytogenetic Map22q13.31NCBI
HuRef2229,700,771 - 29,879,343 (-)NCBIHuRef
CHM1_12246,715,504 - 46,891,675 (-)NCBICHM1_1
T2T-CHM13v2.02246,845,906 - 47,025,248 (-)NCBIT2T-CHM13v2.0
Celsr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391585,782,959 - 85,918,424 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1585,783,130 - 85,918,404 (-)EnsemblGRCm39 Ensembl
GRCm381585,898,758 - 86,034,223 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1585,898,929 - 86,034,203 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl1585,898,929 - 86,033,777 (-)EnsemblGRCm38mm10GRCm38
MGSCv371585,729,188 - 85,864,207 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361585,726,695 - 85,861,543 (-)NCBIMGSCv36mm8
Celera1588,032,450 - 88,175,947 (-)NCBICelera
Cytogenetic Map15E2NCBI
cM Map1540.42NCBI
Celsr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87118,867,450 - 119,004,859 (-)NCBIGRCr8
mRatBN7.27116,987,616 - 117,125,035 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7116,987,605 - 117,125,164 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.07126,774,010 - 126,914,085 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7126,775,516 - 126,913,585 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07126,484,850 - 126,625,684 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47123,900,366 - 124,036,122 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera7113,278,640 - 113,416,057 (-)NCBICelera
Cytogenetic Map7q34NCBI
Celsr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541330,457,030 - 30,561,124 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541330,455,194 - 30,561,124 (-)NCBIChiLan1.0ChiLan1.0
CELSR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22356,187,757 - 56,373,480 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12258,881,830 - 59,067,171 (-)NCBINHGRI_mPanPan1
PanPan1.12245,427,275 - 45,604,286 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2245,428,159 - 45,604,453 (-)Ensemblpanpan1.1panPan2
CELSR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11019,704,104 - 19,836,886 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1019,707,804 - 19,837,481 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1019,627,660 - 19,761,740 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01020,441,895 - 20,572,829 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1020,441,951 - 20,572,830 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11020,159,738 - 20,293,475 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01020,471,194 - 20,605,951 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01020,654,864 - 20,787,972 (+)NCBIUU_Cfam_GSD_1.0
Celsr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049453,453,384 - 3,570,250 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366293,455,887 - 3,568,566 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366293,453,384 - 3,570,250 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LOC102159820
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl52,980,351 - 3,203,381 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.153,114,410 - 3,203,378 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25586,808 - 596,547 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CELSR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11928,842,332 - 29,030,672 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1928,844,644 - 29,030,216 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604596,500,977 - 96,687,142 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Celsr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247523,425,901 - 3,535,400 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247523,426,317 - 3,537,219 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CELSR1
490 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001378328.1(CELSR1):c.3205G>A (p.Glu1069Lys) single nucleotide variant not provided [RCV000519009] Chr22:46533966 [GRCh38]
Chr22:46929863 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8239G>A (p.Gly2747Arg) single nucleotide variant not provided [RCV000519356] Chr22:46366447 [GRCh38]
Chr22:46762344 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3 copy number gain See cases [RCV000050316] Chr22:46183346..46791748 [GRCh38]
Chr22:46579243..47187645 [GRCh37]
Chr22:44957907..45566309 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46065705-50739836)x1 copy number loss See cases [RCV000051098] Chr22:46065705..50739836 [GRCh38]
Chr22:46461585..51178264 [GRCh37]
Chr22:44840249..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3 copy number gain See cases [RCV000052891] Chr22:45954698..47245325 [GRCh38]
Chr22:46350578..47641075 [GRCh37]
Chr22:44729242..46019739 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.31(chr22:46281772-48028340)x3 copy number gain See cases [RCV000052892] Chr22:46281772..48028340 [GRCh38]
Chr22:46677669..48424155 [GRCh37]
Chr22:45056333..46802819 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.31(chr22:46395546-47339207)x3 copy number gain See cases [RCV000052893] Chr22:46395546..47339207 [GRCh38]
Chr22:46791443..47734957 [GRCh37]
Chr22:45170107..46113621 [NCBI36]
Chr22:22q13.31		 uncertain significance
NM_014246.1(CELSR1):c.1407C>A (p.Pro469=) single nucleotide variant Malignant melanoma [RCV000073004] Chr22:46535764 [GRCh38]
Chr22:46931661 [GRCh37]
Chr22:45310325 [NCBI36]
Chr22:22q13.31		 not provided
NM_001378328.1(CELSR1):c.7805_7806delinsAA (p.Phe2602Ter) indel not provided [RCV003223945] Chr22:46369758..46369759 [GRCh38]
Chr22:46765655..46765656 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33		 pathogenic
GRCh38/hg38 22q13.31(chr22:46370888-47181144)x3 copy number gain See cases [RCV000135571] Chr22:46370888..47181144 [GRCh38]
Chr22:46766785..47576897 [GRCh37]
Chr22:45145449..45955561 [NCBI36]
Chr22:22q13.31		 pathogenic|likely benign
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 copy number gain See cases [RCV000135528] Chr22:42197923..47305564 [GRCh38]
Chr22:42593929..47701314 [GRCh37]
Chr22:40923873..46079978 [NCBI36]
Chr22:22q13.2-13.31		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33		 benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1 copy number loss See cases [RCV000138217] Chr22:45445795..47832195 [GRCh38]
Chr22:45841676..48227944 [GRCh37]
Chr22:44220340..46606608 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:46361165-50759299)x1 copy number loss See cases [RCV000143487] Chr22:46361165..50759299 [GRCh38]
Chr22:46757062..51197727 [GRCh37]
Chr22:45135726..49544593 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31(chr22:46271847-46482065)x1 copy number loss See cases [RCV000143567] Chr22:46271847..46482065 [GRCh38]
Chr22:46667744..46877962 [GRCh37]
Chr22:45046408..45256626 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.31(chr22:46183346-46791748)x3 copy number gain See cases [RCV000148265] Chr22:46183346..46791748 [GRCh38]
Chr22:46579243..47187645 [GRCh37]
Chr22:44957907..45566309 [NCBI36]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5702-1G>C single nucleotide variant Lymphatic malformation [RCV001787354] Chr22:46396747 [GRCh38]
Chr22:46792644 [GRCh37]
Chr22:22q13.31		 likely pathogenic
NM_001378328.1(CELSR1):c.5052_5053dup (p.Glu1685fs) microsatellite Neural tube defects, susceptibility to [RCV000162244] Chr22:46409760..46409761 [GRCh38]
Chr22:46805657..46805658 [GRCh37]
Chr22:22q13.31		 risk factor
NM_001378328.1(CELSR1):c.5723_5724del (p.Val1908fs) microsatellite Neural tube defects, susceptibility to [RCV000162245] Chr22:46396724..46396725 [GRCh38]
Chr22:46792621..46792622 [GRCh37]
Chr22:22q13.31		 risk factor
NM_001378328.1(CELSR1):c.3406G>A (p.Asp1136Asn) single nucleotide variant Long QT syndrome [RCV000190185] Chr22:46533765 [GRCh38]
Chr22:46929662 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.6224C>T (p.Ala2075Val) single nucleotide variant Abnormality of neuronal migration [RCV000201329] Chr22:46391212 [GRCh38]
Chr22:46787109 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.7268C>T (p.Thr2423Met) single nucleotide variant Abnormality of neuronal migration [RCV000201387] Chr22:46378706 [GRCh38]
Chr22:46774603 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.5226+2T>A single nucleotide variant Lymphatic malformation 9 [RCV001418323]|Lymphatic malformation [RCV001787356] Chr22:46408994 [GRCh38]
Chr22:46804891 [GRCh37]
Chr22:22q13.31		 pathogenic
NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter) single nucleotide variant Lymphatic malformation 9 [RCV001418327]|Lymphatic malformation [RCV001787353] Chr22:46536303 [GRCh38]
Chr22:46932200 [GRCh37]
Chr22:22q13.31		 pathogenic|likely pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1 copy number loss See cases [RCV000239941] Chr22:46316673..50357320 [GRCh37]
Chr22:22q13.31-13.33		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
NM_001378328.1(CELSR1):c.5651A>G (p.Asn1884Ser) single nucleotide variant CELSR1-related disorder [RCV003966311]|not provided [RCV003312565] Chr22:46397724 [GRCh38]
Chr22:46793621 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_001378328.1(CELSR1):c.2284G>T (p.Val762Leu) single nucleotide variant not specified [RCV004319812] Chr22:46534887 [GRCh38]
Chr22:46930784 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5884G>A (p.Val1962Ile) single nucleotide variant not specified [RCV004317546] Chr22:46394222 [GRCh38]
Chr22:46790119 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6739+1G>A single nucleotide variant Lymphatic malformation 9 [RCV001418325]|Lymphatic malformation [RCV001787357] Chr22:46386401 [GRCh38]
Chr22:46782298 [GRCh37]
Chr22:22q13.31		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46866460-51197838)x1 copy number loss See cases [RCV000447857] Chr22:46866460..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001378328.1(CELSR1):c.2536A>T (p.Thr846Ser) single nucleotide variant not provided [RCV000479356] Chr22:46534635 [GRCh38]
Chr22:46930532 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8089G>T (p.Val2697Phe) single nucleotide variant not provided [RCV000483511] Chr22:46367109 [GRCh38]
Chr22:46763006 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7273G>A (p.Gly2425Arg) single nucleotide variant not provided [RCV000483651] Chr22:46378701 [GRCh38]
Chr22:46774598 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.80G>C (p.Arg27Pro) single nucleotide variant not provided [RCV000485550] Chr22:46537091 [GRCh38]
Chr22:46932988 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7224G>T (p.Lys2408Asn) single nucleotide variant not provided [RCV000481624] Chr22:46380820 [GRCh38]
Chr22:46776717 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4489G>A (p.Val1497Met) single nucleotide variant not provided [RCV000485991]|not specified [RCV004023141] Chr22:46436207 [GRCh38]
Chr22:46832104 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_001378328.1(CELSR1):c.3984_4001dup (p.Pro1329_Thr1334dup) duplication not provided [RCV000481998] Chr22:46463888..46463889 [GRCh38]
Chr22:46859785..46859786 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8807C>T (p.Pro2936Leu) single nucleotide variant not provided [RCV000486679] Chr22:46364224 [GRCh38]
Chr22:46760121 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46543160-51197838)x1 copy number loss See cases [RCV000510351] Chr22:46543160..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_001378328.1(CELSR1):c.4325T>C (p.Val1442Ala) single nucleotide variant not specified [RCV004309930] Chr22:46439270 [GRCh38]
Chr22:46835167 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3490C>T (p.Arg1164Cys) single nucleotide variant not specified [RCV004328488] Chr22:46533681 [GRCh38]
Chr22:46929578 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1120A>G (p.Thr374Ala) single nucleotide variant not specified [RCV004307866] Chr22:46536051 [GRCh38]
Chr22:46931948 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7108A>C (p.Ile2370Leu) single nucleotide variant not specified [RCV004305962] Chr22:46380936 [GRCh38]
Chr22:46776833 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7112A>C (p.Asn2371Thr) single nucleotide variant not specified [RCV004305963] Chr22:46380932 [GRCh38]
Chr22:46776829 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.301C>G (p.Leu101Val) single nucleotide variant not specified [RCV004321898] Chr22:46536870 [GRCh38]
Chr22:46932767 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6104G>A (p.Arg2035His) single nucleotide variant not specified [RCV004293903] Chr22:46391677 [GRCh38]
Chr22:46787574 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8617A>C (p.Ser2873Arg) single nucleotide variant not specified [RCV004319304] Chr22:46364674 [GRCh38]
Chr22:46760571 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7627A>G (p.Met2543Val) single nucleotide variant not provided [RCV003312564] Chr22:46373015 [GRCh38]
Chr22:46768912 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8444A>T (p.Glu2815Val) single nucleotide variant not specified [RCV004293085] Chr22:46365341 [GRCh38]
Chr22:46761238 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.199G>T (p.Val67Leu) single nucleotide variant not specified [RCV004323580] Chr22:46536972 [GRCh38]
Chr22:46932869 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4535C>T (p.Thr1512Met) single nucleotide variant not specified [RCV004294039] Chr22:46433469 [GRCh38]
Chr22:46829366 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2134C>T (p.Arg712Cys) single nucleotide variant not specified [RCV004290468] Chr22:46535037 [GRCh38]
Chr22:46930934 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3727T>C (p.Phe1243Leu) single nucleotide variant not specified [RCV004315348] Chr22:46464163 [GRCh38]
Chr22:46860060 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4084A>T (p.Thr1362Ser) single nucleotide variant not specified [RCV004315665] Chr22:46463806 [GRCh38]
Chr22:46859703 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.31(chr22:46189128-46998144)x3 copy number gain See cases [RCV000512253] Chr22:46189128..46998144 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.31-13.32(chr22:46406694-48524541)x1 copy number loss See cases [RCV000512399] Chr22:46406694..48524541 [GRCh37]
Chr22:22q13.31-13.32		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46780978-51183840)x1 copy number loss not provided [RCV000684522] Chr22:46780978..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46768838-51197838)x1 copy number loss not provided [RCV000684523] Chr22:46768838..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46667744-51183840)x1 copy number loss not provided [RCV000684524] Chr22:46667744..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31(chr22:46802610-47050585)x3 copy number gain not provided [RCV000684464] Chr22:46802610..47050585 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh37/hg19 22q13.31(chr22:46781330-47173786)x3 copy number gain not provided [RCV000684474] Chr22:46781330..47173786 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31(chr22:46831965-47009871)x3 copy number gain not provided [RCV000742055] Chr22:46831965..47009871 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001378328.1(CELSR1):c.8107G>A (p.Val2703Met) single nucleotide variant CELSR1-related disorder [RCV003976047]|not provided [RCV001708776] Chr22:46367091 [GRCh38]
Chr22:46762988 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8961G>A (p.Pro2987=) single nucleotide variant CELSR1-related disorder [RCV003978416]|not provided [RCV000964192] Chr22:46364070 [GRCh38]
Chr22:46759967 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.4572C>T (p.Asp1524=) single nucleotide variant not provided [RCV000964194] Chr22:46433432 [GRCh38]
Chr22:46829329 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8842G>A (p.Gly2948Ser) single nucleotide variant CELSR1-related disorder [RCV003975854]|not provided [RCV001665660] Chr22:46364189 [GRCh38]
Chr22:46760086 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.4809C>T (p.Val1603=) single nucleotide variant not provided [RCV000965510] Chr22:46410522 [GRCh38]
Chr22:46806419 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.2196C>A (p.Arg732=) single nucleotide variant not provided [RCV000881457] Chr22:46534975 [GRCh38]
Chr22:46930872 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8238C>T (p.Asp2746=) single nucleotide variant not provided [RCV000967593] Chr22:46366448 [GRCh38]
Chr22:46762345 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8679C>T (p.His2893=) single nucleotide variant not provided [RCV000881693] Chr22:46364612 [GRCh38]
Chr22:46760509 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4518_4519insCC (p.Ala1507fs) insertion not provided [RCV000892722] Chr22:46436177..46436178 [GRCh38]
Chr22:46832074..46832075 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.7554C>A (p.Phe2518Leu) single nucleotide variant CELSR1-related disorder [RCV003916267]|Lymphatic malformation 9 [RCV002503055]|not provided [RCV000968798] Chr22:46377091 [GRCh38]
Chr22:46772988 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_001378328.1(CELSR1):c.6846C>T (p.Ser2282=) single nucleotide variant not provided [RCV000882793] Chr22:46384580 [GRCh38]
Chr22:46780477 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.6134C>T (p.Thr2045Met) single nucleotide variant not provided [RCV000882794] Chr22:46391647 [GRCh38]
Chr22:46787544 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.5844A>G (p.Lys1948=) single nucleotide variant CELSR1-related disorder [RCV003968012]|not provided [RCV000882795] Chr22:46394262 [GRCh38]
Chr22:46790159 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5059+10C>T single nucleotide variant CELSR1-related disorder [RCV003975553]|not provided [RCV000882796] Chr22:46409745 [GRCh38]
Chr22:46805642 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.7554C>T (p.Phe2518=) single nucleotide variant not provided [RCV000970931] Chr22:46377091 [GRCh38]
Chr22:46772988 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.3738C>T (p.Asn1246=) single nucleotide variant CELSR1-related disorder [RCV003912847]|not provided [RCV000899750] Chr22:46464152 [GRCh38]
Chr22:46860049 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_001378328.1(CELSR1):c.6078C>T (p.Pro2026=) single nucleotide variant not provided [RCV000968799] Chr22:46391703 [GRCh38]
Chr22:46787600 [GRCh37]
Chr22:22q13.31		 benign
Single allele deletion not provided [RCV000768459] Chr22:46794432..51139778 [GRCh37]
Chr22:22q13.31-13.33		 likely pathogenic
NM_001378328.1(CELSR1):c.1776G>A (p.Ala592=) single nucleotide variant not provided [RCV000964195] Chr22:46535395 [GRCh38]
Chr22:46931292 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.7971A>G (p.Ala2657=) single nucleotide variant not provided [RCV000961764] Chr22:46367837 [GRCh38]
Chr22:46763734 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.2318C>T (p.Ala773Val) single nucleotide variant CELSR1-related disorder [RCV003940799]|not provided [RCV000897513] Chr22:46534853 [GRCh38]
Chr22:46930750 [GRCh37]
Chr22:22q13.31		 benign|likely benign
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_001378328.1(CELSR1):c.8891C>T (p.Ser2964Leu) single nucleotide variant CELSR1-related disorder [RCV003916095]|not provided [RCV000962772] Chr22:46364140 [GRCh38]
Chr22:46760037 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.7194C>T (p.Phe2398=) single nucleotide variant not provided [RCV000962896] Chr22:46380850 [GRCh38]
Chr22:46776747 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.4683T>C (p.Asp1561=) single nucleotide variant CELSR1-related disorder [RCV003930691]|not provided [RCV000887216] Chr22:46411688 [GRCh38]
Chr22:46807585 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_001378328.1(CELSR1):c.1065G>A (p.Gln355=) single nucleotide variant CELSR1-related disorder [RCV003955926]|not provided [RCV000887217] Chr22:46536106 [GRCh38]
Chr22:46932003 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_001378328.1(CELSR1):c.6935G>C (p.Arg2312Pro) single nucleotide variant not provided [RCV000964193] Chr22:46381999 [GRCh38]
Chr22:46777896 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8367C>T (p.Asp2789=) single nucleotide variant not provided [RCV000899749] Chr22:46365623 [GRCh38]
Chr22:46761520 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.5059+9C>T single nucleotide variant not provided [RCV000965509] Chr22:46409746 [GRCh38]
Chr22:46805643 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.297G>C (p.Thr99=) single nucleotide variant not provided [RCV000965511] Chr22:46536874 [GRCh38]
Chr22:46932771 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5310C>T (p.Thr1770=) single nucleotide variant not provided [RCV000880305] Chr22:46399819 [GRCh38]
Chr22:46795716 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8415C>T (p.Ser2805=) single nucleotide variant not provided [RCV000880357] Chr22:46365370 [GRCh38]
Chr22:46761267 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.5085C>T (p.Ser1695=) single nucleotide variant not provided [RCV000884667] Chr22:46409137 [GRCh38]
Chr22:46805034 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.1881C>T (p.Asp627=) single nucleotide variant not provided [RCV000954534] Chr22:46535290 [GRCh38]
Chr22:46931187 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_001378328.1(CELSR1):c.2042del (p.Asn681fs) deletion Lymphatic malformation [RCV001787355] Chr22:46535129 [GRCh38]
Chr22:46931026 [GRCh37]
Chr22:22q13.31		 likely pathogenic
NM_001378328.1(CELSR1):c.4517_4518insCGCAGGTGGGGCCTTC (p.Glu1509fs) insertion not provided [RCV000892723] Chr22:46436178..46436179 [GRCh38]
Chr22:46832075..46832076 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.31(chr22:46421842-46964908)x1 copy number loss See cases [RCV001194545] Chr22:46421842..46964908 [GRCh37]
Chr22:22q13.31		 likely pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:46432744-51197838)x3 copy number gain not provided [RCV000849204] Chr22:46432744..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q13.31(chr22:46799511-47767893)x3 copy number gain not provided [RCV001007505] Chr22:46799511..47767893 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001378328.1(CELSR1):c.5497G>C (p.Val1833Leu) single nucleotide variant not specified [RCV004291102] Chr22:46398553 [GRCh38]
Chr22:46794450 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5581G>A (p.Ala1861Thr) single nucleotide variant not specified [RCV004315982] Chr22:46397794 [GRCh38]
Chr22:46793691 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5236A>G (p.Asn1746Asp) single nucleotide variant not specified [RCV004317938] Chr22:46399893 [GRCh38]
Chr22:46795790 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5533A>G (p.Arg1845Gly) single nucleotide variant not provided [RCV003231859] Chr22:46397842 [GRCh38]
Chr22:46793739 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4036G>A (p.Gly1346Ser) single nucleotide variant not provided [RCV003233181]|not specified [RCV004285647] Chr22:46463854 [GRCh38]
Chr22:46859751 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6576C>T (p.Ser2192=) single nucleotide variant not provided [RCV000965508] Chr22:46386565 [GRCh38]
Chr22:46782462 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.5469C>T (p.Val1823=) single nucleotide variant CELSR1-related disorder [RCV003948380]|not provided [RCV000887215] Chr22:46398581 [GRCh38]
Chr22:46794478 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8300+8C>T single nucleotide variant not provided [RCV000969754] Chr22:46366378 [GRCh38]
Chr22:46762275 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5622C>T (p.Asp1874=) single nucleotide variant not provided [RCV000887300] Chr22:46397753 [GRCh38]
Chr22:46793650 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.2274C>T (p.Tyr758=) single nucleotide variant not provided [RCV000955227] Chr22:46534897 [GRCh38]
Chr22:46930794 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.61C>T (p.Leu21=) single nucleotide variant not provided [RCV000893980] Chr22:46537110 [GRCh38]
Chr22:46933007 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.2325C>T (p.Val775=) single nucleotide variant not provided [RCV000894242] Chr22:46534846 [GRCh38]
Chr22:46930743 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.7806C>T (p.Phe2602=) single nucleotide variant not provided [RCV000888553] Chr22:46369758 [GRCh38]
Chr22:46765655 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8988C>G (p.Ala2996=) single nucleotide variant CELSR1-related disorder [RCV003975665]|not provided [RCV000894379] Chr22:46364043 [GRCh38]
Chr22:46759940 [GRCh37]
Chr22:22q13.31		 benign
Single allele copy number loss 22q13.3 interstitial deletion [RCV001200047] Chr22:44850001..50850001 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_001378328.1(CELSR1):c.8886_8897del (p.Arg2965_Ser2968del) deletion CELSR1-related disorder [RCV003940633]|not provided [RCV000889330] Chr22:46364134..46364145 [GRCh38]
Chr22:46760031..46760042 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.6411G>A (p.Ala2137=) single nucleotide variant not provided [RCV000958276] Chr22:46389434 [GRCh38]
Chr22:46785331 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.9042TAATGAAACTTCAATTTGAACCATCAG[1] (p.Gly3013_Ter3020=) microsatellite not provided [RCV000958272] Chr22:46363188..46363214 [GRCh38]
Chr22:46759085..46759111 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8947C>G (p.Pro2983Ala) single nucleotide variant CELSR1-related disorder [RCV003915967]|not provided [RCV000958273] Chr22:46364084 [GRCh38]
Chr22:46759981 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8319G>A (p.Lys2773=) single nucleotide variant not provided [RCV000958274] Chr22:46365671 [GRCh38]
Chr22:46761568 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.7395C>A (p.Val2465=) single nucleotide variant CELSR1-related disorder [RCV003903323]|not provided [RCV000958275] Chr22:46377250 [GRCh38]
Chr22:46773147 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_001378328.1(CELSR1):c.6372G>T (p.Thr2124=) single nucleotide variant not provided [RCV000958277] Chr22:46389473 [GRCh38]
Chr22:46785370 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.6366T>C (p.Asn2122=) single nucleotide variant not provided [RCV000958278] Chr22:46389479 [GRCh38]
Chr22:46785376 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.4377A>G (p.Arg1459=) single nucleotide variant not provided [RCV000958279] Chr22:46439218 [GRCh38]
Chr22:46835115 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.1759A>G (p.Ile587Val) single nucleotide variant CELSR1-related disorder [RCV003915968]|not provided [RCV000958280] Chr22:46535412 [GRCh38]
Chr22:46931309 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.3789G>A (p.Ser1263=) single nucleotide variant not provided [RCV000890114] Chr22:46464101 [GRCh38]
Chr22:46859998 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_001378328.1(CELSR1):c.3230C>T (p.Thr1077Met) single nucleotide variant CELSR1-related disorder [RCV004741033]|not provided [RCV001558402] Chr22:46533941 [GRCh38]
Chr22:46929838 [GRCh37]
Chr22:22q13.31		 likely benign|uncertain significance
NM_001378328.1(CELSR1):c.826G>T (p.Glu276Ter) single nucleotide variant not provided [RCV003237120] Chr22:46536345 [GRCh38]
Chr22:46932242 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5017T>G (p.Cys1673Gly) single nucleotide variant not provided [RCV001576472] Chr22:46409797 [GRCh38]
Chr22:46805694 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4066A>T (p.Thr1356Ser) single nucleotide variant not provided [RCV003235820] Chr22:46463824 [GRCh38]
Chr22:46859721 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2134C>A (p.Arg712Ser) single nucleotide variant not provided [RCV001556153] Chr22:46535037 [GRCh38]
Chr22:46930934 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 copy number loss not provided [RCV002473583] Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
GRCh37/hg19 22q13.31(chr22:46896864-47469215)x3 copy number gain not provided [RCV001007192] Chr22:46896864..47469215 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8719dup (p.Asp2907fs) duplication not provided [RCV001027871] Chr22:46364571..46364572 [GRCh38]
Chr22:46760468..46760469 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6319A>G (p.Ile2107Val) single nucleotide variant CELSR1-related disorder [RCV003968453]|not provided [RCV001667798] Chr22:46390418 [GRCh38]
Chr22:46786315 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8826G>A (p.Thr2942=) single nucleotide variant CELSR1-related disorder [RCV003921263]|not provided [RCV001613885] Chr22:46364205 [GRCh38]
Chr22:46760102 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.2961G>A (p.Val987=) single nucleotide variant CELSR1-related disorder [RCV003968452]|not provided [RCV001672160] Chr22:46534210 [GRCh38]
Chr22:46930107 [GRCh37]
Chr22:22q13.31		 benign
NC_000022.11:g.45708330_50737364del deletion Phelan-McDermid syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43802117_50806121del deletion Phelan-McDermid syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.11:g.44245760_50806121del deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46269281_50740560del deletion Phelan-McDermid syndrome [RCV001254358] Chr22:46269281..50740560 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46489644_50806138del deletion Phelan-McDermid syndrome [RCV001254363] Chr22:46489644..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.45819932_50737806del deletion Phelan-McDermid syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44702479_50806138del deletion Phelan-McDermid syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.46467175_50759338del deletion Phelan-McDermid syndrome [RCV001254367] Chr22:46467175..50759338 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NM_001378328.1(CELSR1):c.1210G>A (p.Glu404Lys) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001267723]|not specified [RCV004035430] Chr22:46535961 [GRCh38]
Chr22:46931858 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_001378328.1(CELSR1):c.4415C>G (p.Thr1472Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001267716] Chr22:46436281 [GRCh38]
Chr22:46832178 [GRCh37]
Chr22:22q13.31		 uncertain significance
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_001378328.1(CELSR1):c.8718G>A (p.Pro2906=) single nucleotide variant not provided [RCV001531983] Chr22:46364573 [GRCh38]
Chr22:46760470 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3055G>T (p.Ala1019Ser) single nucleotide variant not provided [RCV001540863] Chr22:46534116 [GRCh38]
Chr22:46930013 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.5871G>A (p.Trp1957Ter) single nucleotide variant Lymphatic malformation 9 [RCV001418322] Chr22:46394235 [GRCh38]
Chr22:46790132 [GRCh37]
Chr22:22q13.31		 pathogenic
NM_001378328.1(CELSR1):c.5121dup (p.Ile1708fs) duplication Lymphatic malformation 9 [RCV001418328] Chr22:46409100..46409101 [GRCh38]
Chr22:46804997..46804998 [GRCh37]
Chr22:22q13.31		 pathogenic
NM_001378328.1(CELSR1):c.7179C>A (p.Pro2393=) single nucleotide variant CELSR1-related disorder [RCV003931298]|not provided [RCV001727229] Chr22:46380865 [GRCh38]
Chr22:46776762 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_001378328.1(CELSR1):c.3601G>A (p.Asp1201Asn) single nucleotide variant not provided [RCV001755354]|not specified [RCV004040312] Chr22:46464289 [GRCh38]
Chr22:46860186 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4436T>A (p.Leu1479His) single nucleotide variant not provided [RCV001755362] Chr22:46436260 [GRCh38]
Chr22:46832157 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5497G>A (p.Val1833Met) single nucleotide variant Heterotaxy [RCV001732156] Chr22:46398553 [GRCh38]
Chr22:46794450 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4136G>A (p.Arg1379His) single nucleotide variant not provided [RCV001777121] Chr22:46463754 [GRCh38]
Chr22:46859651 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6826G>C (p.Glu2276Gln) single nucleotide variant not provided [RCV002251802] Chr22:46384600 [GRCh38]
Chr22:46780497 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6569C>T (p.Ser2190Leu) single nucleotide variant not provided [RCV001769867] Chr22:46386572 [GRCh38]
Chr22:46782469 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1275C>G (p.Leu425=) single nucleotide variant not provided [RCV001786784] Chr22:46535896 [GRCh38]
Chr22:46931793 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.3072C>G (p.Asn1024Lys) single nucleotide variant not provided [RCV001776445] Chr22:46534099 [GRCh38]
Chr22:46929996 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5158C>T (p.Arg1720Trp) single nucleotide variant not provided [RCV001753030]|not specified [RCV004040727] Chr22:46409064 [GRCh38]
Chr22:46804961 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2609C>G (p.Pro870Arg) single nucleotide variant not provided [RCV001753387] Chr22:46534562 [GRCh38]
Chr22:46930459 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5066C>T (p.Pro1689Leu) single nucleotide variant not provided [RCV001766118] Chr22:46409156 [GRCh38]
Chr22:46805053 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6251-4C>T single nucleotide variant not provided [RCV001776517] Chr22:46390490 [GRCh38]
Chr22:46786387 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1230C>T (p.Ser410=) single nucleotide variant not provided [RCV001786783] Chr22:46535941 [GRCh38]
Chr22:46931838 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_001378328.1(CELSR1):c.5786C>T (p.Pro1929Leu) single nucleotide variant not provided [RCV001776699] Chr22:46396662 [GRCh38]
Chr22:46792559 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3325A>G (p.Asn1109Asp) single nucleotide variant not provided [RCV001757793] Chr22:46533846 [GRCh38]
Chr22:46929743 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.214C>T (p.Arg72Trp) single nucleotide variant not provided [RCV001810381] Chr22:46536957 [GRCh38]
Chr22:46932854 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8554+2T>C single nucleotide variant See cases [RCV001848621] Chr22:46365229 [GRCh38]
Chr22:46761126 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_001378328.1(CELSR1):c.7640C>T (p.Ala2547Val) single nucleotide variant Lymphatic malformation 9 [RCV001834556] Chr22:46373002 [GRCh38]
Chr22:46768899 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1351G>A (p.Asp451Asn) single nucleotide variant not provided [RCV002254115] Chr22:46535820 [GRCh38]
Chr22:46931717 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2938A>C (p.Ser980Arg) single nucleotide variant not provided [RCV003110096] Chr22:46534233 [GRCh38]
Chr22:46930130 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6235C>T (p.Pro2079Ser) single nucleotide variant not specified [RCV004308232] Chr22:46391201 [GRCh38]
Chr22:46787098 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4928G>A (p.Arg1643Gln) single nucleotide variant CELSR1-related disorder [RCV003427700]|not provided [RCV003149358] Chr22:46410403 [GRCh38]
Chr22:46806300 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4150G>A (p.Gly1384Ser) single nucleotide variant not specified [RCV004330239] Chr22:46463740 [GRCh38]
Chr22:46859637 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6872C>T (p.Pro2291Leu) single nucleotide variant not provided [RCV002278873] Chr22:46384554 [GRCh38]
Chr22:46780451 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1186G>T (p.Ala396Ser) single nucleotide variant not provided [RCV002275816]|not specified [RCV004047507] Chr22:46535985 [GRCh38]
Chr22:46931882 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3109C>A (p.Gln1037Lys) single nucleotide variant not provided [RCV002276280]|not specified [RCV004047505] Chr22:46534062 [GRCh38]
Chr22:46929959 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.17_25del (p.Pro6_Val8del) deletion not provided [RCV002267516] Chr22:46537146..46537154 [GRCh38]
Chr22:46933043..46933051 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1036A>T (p.Thr346Ser) single nucleotide variant CELSR1-related disorder [RCV003903653]|not provided [RCV002263300] Chr22:46536135 [GRCh38]
Chr22:46932032 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_001378328.1(CELSR1):c.6533C>G (p.Thr2178Arg) single nucleotide variant not provided [RCV002278871] Chr22:46389312 [GRCh38]
Chr22:46785209 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.929T>C (p.Val310Ala) single nucleotide variant CELSR1-associated congenital heartdefects [RCV002266856] Chr22:46536242 [GRCh38]
Chr22:46932139 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.366_386dup (p.Gly129_Ala130insThrGlyAlaArgLeuCysGly) duplication not provided [RCV003149231] Chr22:46536784..46536785 [GRCh38]
Chr22:46932681..46932682 [GRCh37]
Chr22:22q13.31		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 copy number loss not provided [RCV002473520] Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 copy number loss not provided [RCV002472623] Chr22:44178749..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 copy number loss not provided [RCV002472642] Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 copy number loss not provided [RCV002472654] Chr22:45977415..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_001378328.1(CELSR1):c.4946G>A (p.Arg1649Gln) single nucleotide variant not provided [RCV003149491] Chr22:46409868 [GRCh38]
Chr22:46805765 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1250G>T (p.Arg417Leu) single nucleotide variant not provided [RCV002300757] Chr22:46535921 [GRCh38]
Chr22:46931818 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6107G>A (p.Cys2036Tyr) single nucleotide variant not provided [RCV002308849] Chr22:46391674 [GRCh38]
Chr22:46787571 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5513G>A (p.Arg1838Gln) single nucleotide variant not specified [RCV004085966] Chr22:46398537 [GRCh38]
Chr22:46794434 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6461G>A (p.Arg2154His) single nucleotide variant not specified [RCV004102455] Chr22:46389384 [GRCh38]
Chr22:46785281 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8999G>A (p.Arg3000His) single nucleotide variant not specified [RCV004194832] Chr22:46364032 [GRCh38]
Chr22:46759929 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2827A>T (p.Ile943Phe) single nucleotide variant not specified [RCV004128591] Chr22:46534344 [GRCh38]
Chr22:46930241 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8575G>A (p.Val2859Ile) single nucleotide variant not specified [RCV004086722] Chr22:46364716 [GRCh38]
Chr22:46760613 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.527G>A (p.Gly176Asp) single nucleotide variant not specified [RCV004243936] Chr22:46536644 [GRCh38]
Chr22:46932541 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2984A>G (p.Asn995Ser) single nucleotide variant not specified [RCV004149469] Chr22:46534187 [GRCh38]
Chr22:46930084 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8681G>T (p.Arg2894Leu) single nucleotide variant not specified [RCV004186175] Chr22:46364610 [GRCh38]
Chr22:46760507 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.6952G>A (p.Glu2318Lys) single nucleotide variant not specified [RCV004204384] Chr22:46381982 [GRCh38]
Chr22:46777879 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3937G>A (p.Glu1313Lys) single nucleotide variant not specified [RCV004214325] Chr22:46463953 [GRCh38]
Chr22:46859850 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2027C>T (p.Thr676Met) single nucleotide variant not specified [RCV004237569] Chr22:46535144 [GRCh38]
Chr22:46931041 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6541G>A (p.Ala2181Thr) single nucleotide variant not provided [RCV004598254]|not specified [RCV004222970] Chr22:46389304 [GRCh38]
Chr22:46785201 [GRCh37]
Chr22:22q13.31		 likely benign|uncertain significance
NM_001378328.1(CELSR1):c.7699G>A (p.Asp2567Asn) single nucleotide variant not specified [RCV004151637] Chr22:46372943 [GRCh38]
Chr22:46768840 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7792G>A (p.Gly2598Arg) single nucleotide variant not specified [RCV004137864] Chr22:46369772 [GRCh38]
Chr22:46765669 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.746A>G (p.Asn249Ser) single nucleotide variant not specified [RCV004102939] Chr22:46536425 [GRCh38]
Chr22:46932322 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.6388A>G (p.Arg2130Gly) single nucleotide variant not specified [RCV004207779] Chr22:46389457 [GRCh38]
Chr22:46785354 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4003A>G (p.Thr1335Ala) single nucleotide variant not specified [RCV004236398] Chr22:46463887 [GRCh38]
Chr22:46859784 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1856C>G (p.Pro619Arg) single nucleotide variant not specified [RCV004228730] Chr22:46535315 [GRCh38]
Chr22:46931212 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6634G>C (p.Gly2212Arg) single nucleotide variant not specified [RCV004133064] Chr22:46386507 [GRCh38]
Chr22:46782404 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7195G>A (p.Ala2399Thr) single nucleotide variant not specified [RCV004113792] Chr22:46380849 [GRCh38]
Chr22:46776746 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.6923C>T (p.Pro2308Leu) single nucleotide variant not specified [RCV004220991] Chr22:46382011 [GRCh38]
Chr22:46777908 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4573G>A (p.Gly1525Arg) single nucleotide variant not specified [RCV004204930] Chr22:46433431 [GRCh38]
Chr22:46829328 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5461G>A (p.Val1821Met) single nucleotide variant not specified [RCV004210632] Chr22:46398589 [GRCh38]
Chr22:46794486 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8669T>C (p.Val2890Ala) single nucleotide variant not specified [RCV004114710] Chr22:46364622 [GRCh38]
Chr22:46760519 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.404T>G (p.Val135Gly) single nucleotide variant not specified [RCV004111649] Chr22:46536767 [GRCh38]
Chr22:46932664 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3697G>A (p.Ala1233Thr) single nucleotide variant not specified [RCV004184777] Chr22:46464193 [GRCh38]
Chr22:46860090 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8657C>T (p.Thr2886Ile) single nucleotide variant not specified [RCV004233323] Chr22:46364634 [GRCh38]
Chr22:46760531 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1175T>C (p.Val392Ala) single nucleotide variant not specified [RCV004235365] Chr22:46535996 [GRCh38]
Chr22:46931893 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5422G>T (p.Asp1808Tyr) single nucleotide variant not specified [RCV004088900] Chr22:46398628 [GRCh38]
Chr22:46794525 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.370G>A (p.Gly124Ser) single nucleotide variant not specified [RCV004190499] Chr22:46536801 [GRCh38]
Chr22:46932698 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6862T>C (p.Phe2288Leu) single nucleotide variant not specified [RCV004126607] Chr22:46384564 [GRCh38]
Chr22:46780461 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1662G>T (p.Gln554His) single nucleotide variant not specified [RCV004092518] Chr22:46535509 [GRCh38]
Chr22:46931406 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6092G>A (p.Arg2031His) single nucleotide variant not specified [RCV004153725] Chr22:46391689 [GRCh38]
Chr22:46787586 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8589G>T (p.Trp2863Cys) single nucleotide variant not specified [RCV004129926] Chr22:46364702 [GRCh38]
Chr22:46760599 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.281C>T (p.Ala94Val) single nucleotide variant not specified [RCV004148209] Chr22:46536890 [GRCh38]
Chr22:46932787 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2837C>T (p.Thr946Met) single nucleotide variant not specified [RCV004220674] Chr22:46534334 [GRCh38]
Chr22:46930231 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2630C>T (p.Thr877Ile) single nucleotide variant not specified [RCV004178317] Chr22:46534541 [GRCh38]
Chr22:46930438 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.406C>G (p.Pro136Ala) single nucleotide variant not specified [RCV004112106] Chr22:46536765 [GRCh38]
Chr22:46932662 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3592A>G (p.Ile1198Val) single nucleotide variant not specified [RCV004155787] Chr22:46464298 [GRCh38]
Chr22:46860195 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7537C>T (p.Leu2513Phe) single nucleotide variant not specified [RCV004135941] Chr22:46377108 [GRCh38]
Chr22:46773005 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.422C>T (p.Ala141Val) single nucleotide variant not specified [RCV004194690] Chr22:46536749 [GRCh38]
Chr22:46932646 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.656C>T (p.Pro219Leu) single nucleotide variant not specified [RCV004191784] Chr22:46536515 [GRCh38]
Chr22:46932412 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.283C>T (p.Arg95Cys) single nucleotide variant not specified [RCV004154345] Chr22:46536888 [GRCh38]
Chr22:46932785 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3563C>T (p.Thr1188Met) single nucleotide variant not specified [RCV004130660] Chr22:46464327 [GRCh38]
Chr22:46860224 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4843C>T (p.Arg1615Trp) single nucleotide variant not specified [RCV004112466] Chr22:46410488 [GRCh38]
Chr22:46806385 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7078C>T (p.Arg2360Cys) single nucleotide variant not specified [RCV004132144] Chr22:46381856 [GRCh38]
Chr22:46777753 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7160C>T (p.Pro2387Leu) single nucleotide variant not specified [RCV004224632] Chr22:46380884 [GRCh38]
Chr22:46776781 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8900C>T (p.Ser2967Phe) single nucleotide variant not specified [RCV004105016] Chr22:46364131 [GRCh38]
Chr22:46760028 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7325C>T (p.Ala2442Val) single nucleotide variant not provided [RCV003229941]|not specified [RCV004164529] Chr22:46378649 [GRCh38]
Chr22:46774546 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2327T>A (p.Leu776Gln) single nucleotide variant not specified [RCV004183150] Chr22:46534844 [GRCh38]
Chr22:46930741 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.122C>T (p.Ala41Val) single nucleotide variant not specified [RCV004203167] Chr22:46537049 [GRCh38]
Chr22:46932946 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8296G>A (p.Val2766Ile) single nucleotide variant not specified [RCV004236544] Chr22:46366390 [GRCh38]
Chr22:46762287 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6683C>A (p.Ala2228Glu) single nucleotide variant not specified [RCV004118700] Chr22:46386458 [GRCh38]
Chr22:46782355 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7996G>A (p.Ala2666Thr) single nucleotide variant not specified [RCV004227143] Chr22:46367812 [GRCh38]
Chr22:46763709 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8548C>T (p.Pro2850Ser) single nucleotide variant not specified [RCV004110807] Chr22:46365237 [GRCh38]
Chr22:46761134 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5767G>A (p.Val1923Met) single nucleotide variant not specified [RCV004153489] Chr22:46396681 [GRCh38]
Chr22:46792578 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4216C>T (p.Arg1406Cys) single nucleotide variant not specified [RCV004233946] Chr22:46439379 [GRCh38]
Chr22:46835276 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5689G>A (p.Val1897Ile) single nucleotide variant not specified [RCV004240801] Chr22:46397686 [GRCh38]
Chr22:46793583 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.9009C>A (p.Ser3003Arg) single nucleotide variant not specified [RCV004115654] Chr22:46364022 [GRCh38]
Chr22:46759919 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7555G>A (p.Val2519Met) single nucleotide variant not specified [RCV004108066] Chr22:46377090 [GRCh38]
Chr22:46772987 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6857A>G (p.Asp2286Gly) single nucleotide variant not specified [RCV004098288] Chr22:46384569 [GRCh38]
Chr22:46780466 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7076G>A (p.Arg2359His) single nucleotide variant not specified [RCV004203924] Chr22:46381858 [GRCh38]
Chr22:46777755 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.415T>G (p.Cys139Gly) single nucleotide variant not specified [RCV004089651] Chr22:46536756 [GRCh38]
Chr22:46932653 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3761G>A (p.Ser1254Asn) single nucleotide variant not specified [RCV004242378] Chr22:46464129 [GRCh38]
Chr22:46860026 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7780C>G (p.Pro2594Ala) single nucleotide variant not specified [RCV004207546] Chr22:46369784 [GRCh38]
Chr22:46765681 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.533C>T (p.Ser178Leu) single nucleotide variant not provided [RCV003434652]|not specified [RCV004201225] Chr22:46536638 [GRCh38]
Chr22:46932535 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3282G>C (p.Gln1094His) single nucleotide variant not specified [RCV004189442] Chr22:46533889 [GRCh38]
Chr22:46929786 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.9020A>C (p.Asp3007Ala) single nucleotide variant not specified [RCV004224816] Chr22:46364011 [GRCh38]
Chr22:46759908 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8845C>T (p.Arg2949Trp) single nucleotide variant not specified [RCV004227808] Chr22:46364186 [GRCh38]
Chr22:46760083 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4447G>A (p.Gly1483Ser) single nucleotide variant not specified [RCV004246643] Chr22:46436249 [GRCh38]
Chr22:46832146 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6559G>A (p.Val2187Ile) single nucleotide variant not specified [RCV004077158] Chr22:46386582 [GRCh38]
Chr22:46782479 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5159G>A (p.Arg1720Gln) single nucleotide variant not specified [RCV004245206] Chr22:46409063 [GRCh38]
Chr22:46804960 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1474G>T (p.Ala492Ser) single nucleotide variant not specified [RCV004106003] Chr22:46535697 [GRCh38]
Chr22:46931594 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4552G>C (p.Val1518Leu) single nucleotide variant not specified [RCV004193729] Chr22:46433452 [GRCh38]
Chr22:46829349 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3850A>G (p.Ile1284Val) single nucleotide variant not specified [RCV004143060] Chr22:46464040 [GRCh38]
Chr22:46859937 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2791T>A (p.Phe931Ile) single nucleotide variant not specified [RCV004079390] Chr22:46534380 [GRCh38]
Chr22:46930277 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8641C>T (p.Arg2881Cys) single nucleotide variant not specified [RCV004115103] Chr22:46364650 [GRCh38]
Chr22:46760547 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3827C>T (p.Pro1276Leu) single nucleotide variant not specified [RCV004202006] Chr22:46464063 [GRCh38]
Chr22:46859960 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8990T>C (p.Met2997Thr) single nucleotide variant not specified [RCV004179863] Chr22:46364041 [GRCh38]
Chr22:46759938 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4171G>C (p.Glu1391Gln) single nucleotide variant not specified [RCV004159424] Chr22:46463719 [GRCh38]
Chr22:46859616 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4207C>T (p.Arg1403Cys) single nucleotide variant not specified [RCV004122860] Chr22:46439388 [GRCh38]
Chr22:46835285 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.555C>A (p.Cys185Ter) single nucleotide variant not provided [RCV002508582] Chr22:46536616 [GRCh38]
Chr22:46932513 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8630G>T (p.Ser2877Ile) single nucleotide variant not specified [RCV004218801] Chr22:46364661 [GRCh38]
Chr22:46760558 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7711A>G (p.Met2571Val) single nucleotide variant not specified [RCV004174509] Chr22:46372931 [GRCh38]
Chr22:46768828 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8851C>T (p.Arg2951Trp) single nucleotide variant not specified [RCV004182835] Chr22:46364180 [GRCh38]
Chr22:46760077 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.247G>A (p.Gly83Arg) single nucleotide variant not specified [RCV004126308] Chr22:46536924 [GRCh38]
Chr22:46932821 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5368A>T (p.Met1790Leu) single nucleotide variant not specified [RCV004169788] Chr22:46399761 [GRCh38]
Chr22:46795658 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1849G>T (p.Ala617Ser) single nucleotide variant Lymphatic malformation 9 [RCV004560066]|not specified [RCV004081138] Chr22:46535322 [GRCh38]
Chr22:46931219 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1088G>A (p.Arg363Gln) single nucleotide variant not specified [RCV004076452] Chr22:46536083 [GRCh38]
Chr22:46931980 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5284G>T (p.Val1762Leu) single nucleotide variant not specified [RCV004225746] Chr22:46399845 [GRCh38]
Chr22:46795742 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4640A>G (p.His1547Arg) single nucleotide variant not specified [RCV004158953] Chr22:46411731 [GRCh38]
Chr22:46807628 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5309C>G (p.Thr1770Ser) single nucleotide variant not specified [RCV004137238] Chr22:46399820 [GRCh38]
Chr22:46795717 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6625A>G (p.Ser2209Gly) single nucleotide variant not specified [RCV004069570] Chr22:46386516 [GRCh38]
Chr22:46782413 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8584G>A (p.Gly2862Ser) single nucleotide variant not specified [RCV004095578] Chr22:46364707 [GRCh38]
Chr22:46760604 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4615A>G (p.Asn1539Asp) single nucleotide variant not specified [RCV004164825] Chr22:46411756 [GRCh38]
Chr22:46807653 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4120G>A (p.Ala1374Thr) single nucleotide variant not specified [RCV004201827] Chr22:46463770 [GRCh38]
Chr22:46859667 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2531T>C (p.Met844Thr) single nucleotide variant not specified [RCV004077810] Chr22:46534640 [GRCh38]
Chr22:46930537 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1802A>G (p.His601Arg) single nucleotide variant not specified [RCV004154569] Chr22:46535369 [GRCh38]
Chr22:46931266 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3907G>A (p.Asp1303Asn) single nucleotide variant not specified [RCV004082959] Chr22:46463983 [GRCh38]
Chr22:46859880 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7568A>G (p.Asn2523Ser) single nucleotide variant CELSR1-related disorder [RCV003928908]|not specified [RCV004143258] Chr22:46377077 [GRCh38]
Chr22:46772974 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.659C>T (p.Pro220Leu) single nucleotide variant not specified [RCV004171665] Chr22:46536512 [GRCh38]
Chr22:46932409 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5303G>A (p.Arg1768Gln) single nucleotide variant not specified [RCV004089687] Chr22:46399826 [GRCh38]
Chr22:46795723 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6437G>A (p.Gly2146Asp) single nucleotide variant not specified [RCV004187519] Chr22:46389408 [GRCh38]
Chr22:46785305 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8852G>A (p.Arg2951Gln) single nucleotide variant not specified [RCV004195282] Chr22:46364179 [GRCh38]
Chr22:46760076 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.71T>C (p.Met24Thr) single nucleotide variant not specified [RCV004226188] Chr22:46537100 [GRCh38]
Chr22:46932997 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8680C>T (p.Arg2894Cys) single nucleotide variant not specified [RCV004208911] Chr22:46364611 [GRCh38]
Chr22:46760508 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5140dup (p.Tyr1714fs) duplication not provided [RCV003129240] Chr22:46409081..46409082 [GRCh38]
Chr22:46804978..46804979 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.385G>A (p.Gly129Arg) single nucleotide variant not specified [RCV004228731] Chr22:46536786 [GRCh38]
Chr22:46932683 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7111A>C (p.Asn2371His) single nucleotide variant not specified [RCV004302604] Chr22:46380933 [GRCh38]
Chr22:46776830 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2113A>G (p.Ser705Gly) single nucleotide variant not specified [RCV004329006] Chr22:46535058 [GRCh38]
Chr22:46930955 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3756C>G (p.Asp1252Glu) single nucleotide variant not specified [RCV004263180] Chr22:46464134 [GRCh38]
Chr22:46860031 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2080C>T (p.Leu694Phe) single nucleotide variant not specified [RCV004284713] Chr22:46535091 [GRCh38]
Chr22:46930988 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5531T>C (p.Val1844Ala) single nucleotide variant not specified [RCV004278061] Chr22:46397844 [GRCh38]
Chr22:46793741 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1870C>G (p.Pro624Ala) single nucleotide variant not specified [RCV004257193] Chr22:46535301 [GRCh38]
Chr22:46931198 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4268T>C (p.Ile1423Thr) single nucleotide variant not specified [RCV004269559] Chr22:46439327 [GRCh38]
Chr22:46835224 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.752A>G (p.Gln251Arg) single nucleotide variant not specified [RCV004265020] Chr22:46536419 [GRCh38]
Chr22:46932316 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5506G>A (p.Gly1836Arg) single nucleotide variant not provided [RCV003159345] Chr22:46398544 [GRCh38]
Chr22:46794441 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3812G>A (p.Arg1271His) single nucleotide variant not specified [RCV004259290] Chr22:46464078 [GRCh38]
Chr22:46859975 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6724G>T (p.Val2242Phe) single nucleotide variant not provided [RCV003159422] Chr22:46386417 [GRCh38]
Chr22:46782314 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3350A>C (p.Asn1117Thr) single nucleotide variant not specified [RCV004273602] Chr22:46533821 [GRCh38]
Chr22:46929718 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.119G>T (p.Arg40Leu) single nucleotide variant not provided [RCV003221644] Chr22:46537052 [GRCh38]
Chr22:46932949 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4001C>T (p.Thr1334Ile) single nucleotide variant not specified [RCV004269756] Chr22:46463889 [GRCh38]
Chr22:46859786 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5937T>A (p.Asn1979Lys) single nucleotide variant not provided [RCV003227317] Chr22:46394169 [GRCh38]
Chr22:46790066 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6714del (p.Phe2239fs) deletion not provided [RCV003149261] Chr22:46386427 [GRCh38]
Chr22:46782324 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8825C>T (p.Thr2942Met) single nucleotide variant not specified [RCV004252752] Chr22:46364206 [GRCh38]
Chr22:46760103 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2918G>C (p.Arg973Pro) single nucleotide variant not specified [RCV004274541] Chr22:46534253 [GRCh38]
Chr22:46930150 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2750C>T (p.Thr917Met) single nucleotide variant not specified [RCV004249974] Chr22:46534421 [GRCh38]
Chr22:46930318 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6577G>A (p.Ala2193Thr) single nucleotide variant CELSR1-related disorder [RCV004741455]|not provided [RCV003129341] Chr22:46386564 [GRCh38]
Chr22:46782461 [GRCh37]
Chr22:22q13.31		 likely benign|uncertain significance
NM_001378328.1(CELSR1):c.6211G>A (p.Gly2071Arg) single nucleotide variant not specified [RCV004272983] Chr22:46391225 [GRCh38]
Chr22:46787122 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.452C>T (p.Thr151Ile) single nucleotide variant not specified [RCV004258859] Chr22:46536719 [GRCh38]
Chr22:46932616 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7031A>G (p.Tyr2344Cys) single nucleotide variant not specified [RCV004280869] Chr22:46381903 [GRCh38]
Chr22:46777800 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5476G>A (p.Ala1826Thr) single nucleotide variant not specified [RCV004262241] Chr22:46398574 [GRCh38]
Chr22:46794471 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.346G>A (p.Ala116Thr) single nucleotide variant not specified [RCV004265917] Chr22:46536825 [GRCh38]
Chr22:46932722 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.349C>G (p.Arg117Gly) single nucleotide variant not specified [RCV004265918] Chr22:46536822 [GRCh38]
Chr22:46932719 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1210G>C (p.Glu404Gln) single nucleotide variant not provided [RCV003229137] Chr22:46535961 [GRCh38]
Chr22:46931858 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3521C>A (p.Ala1174Glu) single nucleotide variant not provided [RCV003318774] Chr22:46533650 [GRCh38]
Chr22:46929547 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.500C>T (p.Pro167Leu) single nucleotide variant not specified [RCV004290217] Chr22:46536671 [GRCh38]
Chr22:46932568 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6514G>A (p.Gly2172Ser) single nucleotide variant not specified [RCV004330978] Chr22:46389331 [GRCh38]
Chr22:46785228 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7489C>T (p.Arg2497Cys) single nucleotide variant not provided [RCV003321315] Chr22:46377156 [GRCh38]
Chr22:46773053 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.762G>A (p.Leu254=) single nucleotide variant not provided [RCV003325873] Chr22:46536409 [GRCh38]
Chr22:46932306 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8225C>A (p.Thr2742Asn) single nucleotide variant not provided [RCV003328796] Chr22:46366461 [GRCh38]
Chr22:46762358 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3439G>A (p.Glu1147Lys) single nucleotide variant not provided [RCV003328761] Chr22:46533732 [GRCh38]
Chr22:46929629 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7797C>A (p.Asn2599Lys) single nucleotide variant Lymphatic malformation 9 [RCV003330173] Chr22:46369767 [GRCh38]
Chr22:46765664 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7154C>T (p.Pro2385Leu) single nucleotide variant not provided [RCV003325874] Chr22:46380890 [GRCh38]
Chr22:46776787 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3739G>A (p.Val1247Ile) single nucleotide variant not specified [RCV004345207] Chr22:46464151 [GRCh38]
Chr22:46860048 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.1978G>T (p.Val660Leu) single nucleotide variant not specified [RCV004349660] Chr22:46535193 [GRCh38]
Chr22:46931090 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3111G>T (p.Gln1037His) single nucleotide variant not specified [RCV004359881] Chr22:46534060 [GRCh38]
Chr22:46929957 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1212G>C (p.Glu404Asp) single nucleotide variant not specified [RCV004356817] Chr22:46535959 [GRCh38]
Chr22:46931856 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1457G>C (p.Arg486Pro) single nucleotide variant not specified [RCV004361722] Chr22:46535714 [GRCh38]
Chr22:46931611 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5957A>C (p.Gln1986Pro) single nucleotide variant not specified [RCV004363187] Chr22:46394149 [GRCh38]
Chr22:46790046 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3445C>A (p.Arg1149Ser) single nucleotide variant not specified [RCV004343902] Chr22:46533726 [GRCh38]
Chr22:46929623 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2314A>G (p.Thr772Ala) single nucleotide variant not specified [RCV004347760] Chr22:46534857 [GRCh38]
Chr22:46930754 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6922C>A (p.Pro2308Thr) single nucleotide variant not specified [RCV004355837] Chr22:46382012 [GRCh38]
Chr22:46777909 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8398C>T (p.Pro2800Ser) single nucleotide variant not specified [RCV004340666] Chr22:46365592 [GRCh38]
Chr22:46761489 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5802C>T (p.Cys1934=) single nucleotide variant CELSR1-related disorder [RCV003393071] Chr22:46396646 [GRCh38]
Chr22:46792543 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5296G>A (p.Gly1766Arg) single nucleotide variant not specified [RCV004347409] Chr22:46399833 [GRCh38]
Chr22:46795730 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.623C>T (p.Pro208Leu) single nucleotide variant not specified [RCV004338462] Chr22:46536548 [GRCh38]
Chr22:46932445 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3365G>C (p.Gly1122Ala) single nucleotide variant not specified [RCV004345940] Chr22:46533806 [GRCh38]
Chr22:46929703 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8265G>C (p.Leu2755Phe) single nucleotide variant not specified [RCV004352240] Chr22:46366421 [GRCh38]
Chr22:46762318 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7313G>A (p.Arg2438Gln) single nucleotide variant Bladder exstrophy-epispadias-cloacal extrophy complex [RCV004556101]|not provided [RCV003457103] Chr22:46378661 [GRCh38]
Chr22:46774558 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_001378328.1(CELSR1):c.6160G>T (p.Gly2054Cys) single nucleotide variant Lymphatic malformation 9 [RCV003458989]|not specified [RCV004364714] Chr22:46391276 [GRCh38]
Chr22:46787173 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5102C>T (p.Ser1701Phe) single nucleotide variant not specified [RCV004359111] Chr22:46409120 [GRCh38]
Chr22:46805017 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6463A>G (p.Thr2155Ala) single nucleotide variant Lymphatic malformation 9 [RCV003458997] Chr22:46389382 [GRCh38]
Chr22:46785279 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1 copy number loss not provided [RCV003457366] Chr22:43820992..51218654 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1 copy number loss not provided [RCV003483399] Chr22:45611226..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3 copy number gain not provided [RCV003485247] Chr22:45657164..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_001378328.1(CELSR1):c.7524C>T (p.Ala2508=) single nucleotide variant CELSR1-related disorder [RCV003980918]|not provided [RCV003433306] Chr22:46377121 [GRCh38]
Chr22:46773018 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_001378328.1(CELSR1):c.5451G>A (p.Thr1817=) single nucleotide variant not provided [RCV003433314] Chr22:46398599 [GRCh38]
Chr22:46794496 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8813C>A (p.Pro2938Gln) single nucleotide variant not provided [RCV003437654]|not specified [RCV004364585] Chr22:46364218 [GRCh38]
Chr22:46760115 [GRCh37]
Chr22:22q13.31		 benign|uncertain significance
NM_001378328.1(CELSR1):c.7530G>A (p.Ala2510=) single nucleotide variant not provided [RCV003437657] Chr22:46377115 [GRCh38]
Chr22:46773012 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4356C>T (p.Phe1452=) single nucleotide variant not provided [RCV003437665] Chr22:46439239 [GRCh38]
Chr22:46835136 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.2140C>T (p.Arg714Cys) single nucleotide variant not provided [RCV003437668]|not specified [RCV004364586] Chr22:46535031 [GRCh38]
Chr22:46930928 [GRCh37]
Chr22:22q13.31		 likely benign|uncertain significance
NM_001378328.1(CELSR1):c.4903G>A (p.Gly1635Arg) single nucleotide variant Lymphatic malformation 9 [RCV003458978] Chr22:46410428 [GRCh38]
Chr22:46806325 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5958A>G (p.Gln1986=) single nucleotide variant not provided [RCV003433311] Chr22:46394148 [GRCh38]
Chr22:46790045 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8282C>T (p.Ser2761Leu) single nucleotide variant CELSR1-related disorder [RCV003919178]|not provided [RCV003437655] Chr22:46366404 [GRCh38]
Chr22:46762301 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.2472C>T (p.Ile824=) single nucleotide variant not provided [RCV003437667] Chr22:46534699 [GRCh38]
Chr22:46930596 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.1150A>G (p.Ile384Val) single nucleotide variant not provided [RCV003437669] Chr22:46536021 [GRCh38]
Chr22:46931918 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.7409T>C (p.Ile2470Thr) single nucleotide variant not provided [RCV003443383] Chr22:46377236 [GRCh38]
Chr22:46773133 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7641C>T (p.Ala2547=) single nucleotide variant not provided [RCV003433304] Chr22:46373001 [GRCh38]
Chr22:46768898 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.928G>A (p.Val310Ile) single nucleotide variant not provided [RCV003433322] Chr22:46536243 [GRCh38]
Chr22:46932140 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.477G>T (p.Pro159=) single nucleotide variant not provided [RCV003433323] Chr22:46536694 [GRCh38]
Chr22:46932591 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.1499_1500delinsTG (p.Ser500Met) indel not provided [RCV003443304] Chr22:46535671..46535672 [GRCh38]
Chr22:46931568..46931569 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6250+177C>T single nucleotide variant not provided [RCV003437661] Chr22:46391009 [GRCh38]
Chr22:46786906 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.7638T>C (p.Phe2546=) single nucleotide variant not provided [RCV003433305] Chr22:46373004 [GRCh38]
Chr22:46768901 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.6750C>T (p.Val2250=) single nucleotide variant not provided [RCV003433308] Chr22:46384676 [GRCh38]
Chr22:46780573 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5702-8C>T single nucleotide variant CELSR1-related disorder [RCV003929123]|not provided [RCV003433313] Chr22:46396754 [GRCh38]
Chr22:46792651 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_001378328.1(CELSR1):c.5097C>T (p.Val1699=) single nucleotide variant not provided [RCV003433315] Chr22:46409125 [GRCh38]
Chr22:46805022 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3741C>G (p.Val1247=) single nucleotide variant not provided [RCV003433318] Chr22:46464149 [GRCh38]
Chr22:46860046 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.2295C>T (p.Ser765=) single nucleotide variant not provided [RCV003433321] Chr22:46534876 [GRCh38]
Chr22:46930773 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.1807C>G (p.Arg603Gly) single nucleotide variant not provided [RCV003443746] Chr22:46535364 [GRCh38]
Chr22:46931261 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8474C>T (p.Ser2825Leu) single nucleotide variant CELSR1-related disorder [RCV003412198] Chr22:46365311 [GRCh38]
Chr22:46761208 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.137C>A (p.Pro46His) single nucleotide variant CELSR1-related disorder [RCV003420855] Chr22:46537034 [GRCh38]
Chr22:46932931 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7961T>C (p.Leu2654Pro) single nucleotide variant CELSR1-related disorder [RCV003397243] Chr22:46367847 [GRCh38]
Chr22:46763744 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1598G>T (p.Ser533Ile) single nucleotide variant CELSR1-related disorder [RCV003405786] Chr22:46535573 [GRCh38]
Chr22:46931470 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7386C>T (p.Asn2462=) single nucleotide variant not provided [RCV003437658] Chr22:46377259 [GRCh38]
Chr22:46773156 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.6877G>A (p.Glu2293Lys) single nucleotide variant CELSR1-related disorder [RCV003938984]|not provided [RCV003437659] Chr22:46384549 [GRCh38]
Chr22:46780446 [GRCh37]
Chr22:22q13.31		 benign|likely benign
NM_001378328.1(CELSR1):c.4518T>C (p.Ser1506=) single nucleotide variant not provided [RCV003437662] Chr22:46436178 [GRCh38]
Chr22:46832075 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4495G>A (p.Glu1499Lys) single nucleotide variant not provided [RCV003437663] Chr22:46436201 [GRCh38]
Chr22:46832098 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8126G>A (p.Arg2709Gln) single nucleotide variant not provided [RCV003433301] Chr22:46367072 [GRCh38]
Chr22:46762969 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.7771G>A (p.Gly2591Ser) single nucleotide variant not provided [RCV003433303] Chr22:46369793 [GRCh38]
Chr22:46765690 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7422C>T (p.Ala2474=) single nucleotide variant CELSR1-related disorder [RCV003929122]|not provided [RCV003433307] Chr22:46377223 [GRCh38]
Chr22:46773120 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4269C>T (p.Ile1423=) single nucleotide variant not provided [RCV003433317] Chr22:46439326 [GRCh38]
Chr22:46835223 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3274G>A (p.Val1092Met) single nucleotide variant not provided [RCV003433319] Chr22:46533897 [GRCh38]
Chr22:46929794 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8051A>G (p.Tyr2684Cys) single nucleotide variant not provided [RCV003437656] Chr22:46367757 [GRCh38]
Chr22:46763654 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.3159C>T (p.Asn1053=) single nucleotide variant CELSR1-related disorder [RCV003954176]|not provided [RCV003437666] Chr22:46534012 [GRCh38]
Chr22:46929909 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.202G>A (p.Gly68Ser) single nucleotide variant CELSR1-related disorder [RCV003410790] Chr22:46536969 [GRCh38]
Chr22:46932866 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8579C>T (p.Pro2860Leu) single nucleotide variant not provided [RCV003433299] Chr22:46364712 [GRCh38]
Chr22:46760609 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8130G>A (p.Lys2710=) single nucleotide variant not provided [RCV003433300] Chr22:46367068 [GRCh38]
Chr22:46762965 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.7955C>A (p.Ser2652Tyr) single nucleotide variant not provided [RCV003433302] Chr22:46367853 [GRCh38]
Chr22:46763750 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.6159T>C (p.Asn2053=) single nucleotide variant not provided [RCV003433310] Chr22:46391277 [GRCh38]
Chr22:46787174 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5861C>T (p.Pro1954Leu) single nucleotide variant not provided [RCV003433312] Chr22:46394245 [GRCh38]
Chr22:46790142 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.3240G>A (p.Pro1080=) single nucleotide variant not provided [RCV003433320] Chr22:46533931 [GRCh38]
Chr22:46929828 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.7492T>C (p.Ser2498Pro) single nucleotide variant Lymphatic malformation 9 [RCV003458990]|not specified [RCV004364715] Chr22:46377153 [GRCh38]
Chr22:46773050 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4270G>A (p.Gly1424Ser) single nucleotide variant Lymphatic malformation 9 [RCV003458994] Chr22:46439325 [GRCh38]
Chr22:46835222 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6348T>C (p.Asn2116=) single nucleotide variant not provided [RCV003437660] Chr22:46389497 [GRCh38]
Chr22:46785394 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4488C>T (p.Ile1496=) single nucleotide variant not provided [RCV003437664] Chr22:46436208 [GRCh38]
Chr22:46832105 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.415T>C (p.Cys139Arg) single nucleotide variant not provided [RCV003437670] Chr22:46536756 [GRCh38]
Chr22:46932653 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4085C>T (p.Thr1362Met) single nucleotide variant CELSR1-related disorder [RCV003402938] Chr22:46463805 [GRCh38]
Chr22:46859702 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6225G>A (p.Ala2075=) single nucleotide variant not provided [RCV003433309] Chr22:46391211 [GRCh38]
Chr22:46787108 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4428C>T (p.Asn1476=) single nucleotide variant not provided [RCV003433316] Chr22:46436268 [GRCh38]
Chr22:46832165 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.6739+8G>A single nucleotide variant not provided [RCV004585304] Chr22:46386394 [GRCh38]
Chr22:46782291 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1 copy number loss not specified [RCV003986178] Chr22:44034281..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_001378328.1(CELSR1):c.7584+9A>T single nucleotide variant CELSR1-related disorder [RCV003939472] Chr22:46377052 [GRCh38]
Chr22:46772949 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1 copy number loss not specified [RCV003986180] Chr22:43107363..51156692 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_001378328.1(CELSR1):c.3366C>T (p.Gly1122=) single nucleotide variant CELSR1-related disorder [RCV003939657] Chr22:46533805 [GRCh38]
Chr22:46929702 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.5496C>T (p.Ser1832=) single nucleotide variant CELSR1-related disorder [RCV003939359] Chr22:46398554 [GRCh38]
Chr22:46794451 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4668G>A (p.Val1556=) single nucleotide variant CELSR1-related disorder [RCV003939622] Chr22:46411703 [GRCh38]
Chr22:46807600 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329) copy number loss Phelan-McDermid syndrome [RCV003986080] Chr22:44549957..50789329 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1 copy number loss not specified [RCV003986171] Chr22:44502872..51183871 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_001378328.1(CELSR1):c.6540C>T (p.Asp2180=) single nucleotide variant CELSR1-related disorder [RCV003941404] Chr22:46389305 [GRCh38]
Chr22:46785202 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.5112C>T (p.Asp1704=) single nucleotide variant CELSR1-related disorder [RCV003972015] Chr22:46409110 [GRCh38]
Chr22:46805007 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.6656G>A (p.Arg2219His) single nucleotide variant CELSR1-related disorder [RCV003973916] Chr22:46386485 [GRCh38]
Chr22:46782382 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.7728C>T (p.Val2576=) single nucleotide variant CELSR1-related disorder [RCV003973985] Chr22:46372914 [GRCh38]
Chr22:46768811 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.5981T>C (p.Leu1994Pro) single nucleotide variant CELSR1-related disorder [RCV003973979] Chr22:46391800 [GRCh38]
Chr22:46787697 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.4113G>A (p.Pro1371=) single nucleotide variant CELSR1-related disorder [RCV003897079] Chr22:46463777 [GRCh38]
Chr22:46859674 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3036C>T (p.Asn1012=) single nucleotide variant CELSR1-related disorder [RCV003946821] Chr22:46534135 [GRCh38]
Chr22:46930032 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.615G>C (p.Ala205=) single nucleotide variant CELSR1-related disorder [RCV003898942] Chr22:46536556 [GRCh38]
Chr22:46932453 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8390G>C (p.Cys2797Ser) single nucleotide variant CELSR1-related disorder [RCV003982222] Chr22:46365600 [GRCh38]
Chr22:46761497 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8125C>G (p.Arg2709Gly) single nucleotide variant CELSR1-related disorder [RCV003924782] Chr22:46367073 [GRCh38]
Chr22:46762970 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5512C>T (p.Arg1838Ter) single nucleotide variant Lymphatic malformation 9 [RCV004017204] Chr22:46398538 [GRCh38]
Chr22:46794435 [GRCh37]
Chr22:22q13.31		 likely pathogenic
NM_001378328.1(CELSR1):c.3724G>A (p.Val1242Ile) single nucleotide variant CELSR1-related disorder [RCV003979066] Chr22:46464166 [GRCh38]
Chr22:46860063 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.6880_6882del (p.Lys2294del) deletion CELSR1-related disorder [RCV003983391] Chr22:46384544..46384546 [GRCh38]
Chr22:46780441..46780443 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5931C>A (p.Asp1977Glu) single nucleotide variant not provided [RCV003885097] Chr22:46394175 [GRCh38]
Chr22:46790072 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8193C>T (p.Ala2731=) single nucleotide variant CELSR1-related disorder [RCV003914256] Chr22:46367005 [GRCh38]
Chr22:46762902 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.1821G>A (p.Thr607=) single nucleotide variant CELSR1-related disorder [RCV003981212] Chr22:46535350 [GRCh38]
Chr22:46931247 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.7014C>T (p.Val2338=) single nucleotide variant CELSR1-related disorder [RCV003974595] Chr22:46381920 [GRCh38]
Chr22:46777817 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.6939G>A (p.Pro2313=) single nucleotide variant CELSR1-related disorder [RCV003976707] Chr22:46381995 [GRCh38]
Chr22:46777892 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.6792G>A (p.Pro2264=) single nucleotide variant CELSR1-related disorder [RCV003963969] Chr22:46384634 [GRCh38]
Chr22:46780531 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.6123C>T (p.Ala2041=) single nucleotide variant CELSR1-related disorder [RCV003906765] Chr22:46391658 [GRCh38]
Chr22:46787555 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4522+4G>A single nucleotide variant CELSR1-related disorder [RCV003924656] Chr22:46436170 [GRCh38]
Chr22:46832067 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5544G>A (p.Gly1848=) single nucleotide variant CELSR1-related disorder [RCV003966837] Chr22:46397831 [GRCh38]
Chr22:46793728 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4332C>T (p.Thr1444=) single nucleotide variant CELSR1-related disorder [RCV003899752] Chr22:46439263 [GRCh38]
Chr22:46835160 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.6711G>A (p.Arg2237=) single nucleotide variant CELSR1-related disorder [RCV003949375] Chr22:46386430 [GRCh38]
Chr22:46782327 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5472A>G (p.Gly1824=) single nucleotide variant CELSR1-related disorder [RCV003974027] Chr22:46398578 [GRCh38]
Chr22:46794475 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8013G>T (p.Gly2671=) single nucleotide variant CELSR1-related disorder [RCV003979377] Chr22:46367795 [GRCh38]
Chr22:46763692 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5997C>T (p.Thr1999=) single nucleotide variant CELSR1-related disorder [RCV003971820] Chr22:46391784 [GRCh38]
Chr22:46787681 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8892G>A (p.Ser2964=) single nucleotide variant CELSR1-related disorder [RCV003921524] Chr22:46364139 [GRCh38]
Chr22:46760036 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3258G>A (p.Thr1086=) single nucleotide variant CELSR1-related disorder [RCV003929476] Chr22:46533913 [GRCh38]
Chr22:46929810 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4243G>A (p.Gly1415Arg) single nucleotide variant CELSR1-related disorder [RCV003894354] Chr22:46439352 [GRCh38]
Chr22:46835249 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8707G>C (p.Glu2903Gln) single nucleotide variant CELSR1-related disorder [RCV003979177] Chr22:46364584 [GRCh38]
Chr22:46760481 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.6903G>A (p.Pro2301=) single nucleotide variant not provided [RCV003884972] Chr22:46382031 [GRCh38]
Chr22:46777928 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3384G>A (p.Pro1128=) single nucleotide variant CELSR1-related disorder [RCV003983693] Chr22:46533787 [GRCh38]
Chr22:46929684 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5427C>T (p.Ile1809=) single nucleotide variant CELSR1-related disorder [RCV003944637] Chr22:46398623 [GRCh38]
Chr22:46794520 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.6975G>T (p.Arg2325Ser) single nucleotide variant not provided [RCV003885312] Chr22:46381959 [GRCh38]
Chr22:46777856 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.246G>C (p.Ala82=) single nucleotide variant CELSR1-related disorder [RCV003904555] Chr22:46536925 [GRCh38]
Chr22:46932822 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3699C>G (p.Ala1233=) single nucleotide variant CELSR1-related disorder [RCV003981299] Chr22:46464191 [GRCh38]
Chr22:46860088 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.7323C>T (p.Val2441=) single nucleotide variant CELSR1-related disorder [RCV003896457] Chr22:46378651 [GRCh38]
Chr22:46774548 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4536G>A (p.Thr1512=) single nucleotide variant CELSR1-related disorder [RCV003922298] Chr22:46433468 [GRCh38]
Chr22:46829365 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.6441G>A (p.Thr2147=) single nucleotide variant CELSR1-related disorder [RCV003976333] Chr22:46389404 [GRCh38]
Chr22:46785301 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.5984T>C (p.Leu1995Pro) single nucleotide variant CELSR1-related disorder [RCV003974111] Chr22:46391797 [GRCh38]
Chr22:46787694 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.5847C>T (p.Leu1949=) single nucleotide variant CELSR1-related disorder [RCV003934153] Chr22:46394259 [GRCh38]
Chr22:46790156 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.6802A>G (p.Thr2268Ala) single nucleotide variant CELSR1-related disorder [RCV003981258] Chr22:46384624 [GRCh38]
Chr22:46780521 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.8079+9C>T single nucleotide variant CELSR1-related disorder [RCV003959254] Chr22:46367720 [GRCh38]
Chr22:46763617 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.1666C>G (p.Leu556Val) single nucleotide variant CELSR1-related disorder [RCV003919829] Chr22:46535505 [GRCh38]
Chr22:46931402 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.6219G>A (p.Pro2073=) single nucleotide variant CELSR1-related disorder [RCV003904525] Chr22:46391217 [GRCh38]
Chr22:46787114 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.87C>G (p.Ala29=) single nucleotide variant CELSR1-related disorder [RCV003893795] Chr22:46537084 [GRCh38]
Chr22:46932981 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.211G>A (p.Gly71Arg) single nucleotide variant CELSR1-related disorder [RCV003942292] Chr22:46536960 [GRCh38]
Chr22:46932857 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4552G>T (p.Val1518Phe) single nucleotide variant CELSR1-related disorder [RCV003949813] Chr22:46433452 [GRCh38]
Chr22:46829349 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8979C>T (p.Asn2993=) single nucleotide variant CELSR1-related disorder [RCV003934492] Chr22:46364052 [GRCh38]
Chr22:46759949 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.2016C>T (p.Ser672=) single nucleotide variant CELSR1-related disorder [RCV003894729] Chr22:46535155 [GRCh38]
Chr22:46931052 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.7183C>T (p.Leu2395=) single nucleotide variant CELSR1-related disorder [RCV003934500] Chr22:46380861 [GRCh38]
Chr22:46776758 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.2223C>T (p.Gly741=) single nucleotide variant CELSR1-related disorder [RCV003934574] Chr22:46534948 [GRCh38]
Chr22:46930845 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4086G>A (p.Thr1362=) single nucleotide variant CELSR1-related disorder [RCV003968996] Chr22:46463804 [GRCh38]
Chr22:46859701 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.2930C>T (p.Thr977Ile) single nucleotide variant CELSR1-related disorder [RCV003911377] Chr22:46534241 [GRCh38]
Chr22:46930138 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5178C>T (p.Ser1726=) single nucleotide variant CELSR1-related disorder [RCV003982510] Chr22:46409044 [GRCh38]
Chr22:46804941 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3216G>C (p.Leu1072=) single nucleotide variant CELSR1-related disorder [RCV003969430] Chr22:46533955 [GRCh38]
Chr22:46929852 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.1059C>T (p.Phe353=) single nucleotide variant CELSR1-related disorder [RCV003949118] Chr22:46536112 [GRCh38]
Chr22:46932009 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.7760-4T>G single nucleotide variant CELSR1-related disorder [RCV003949145] Chr22:46369808 [GRCh38]
Chr22:46765705 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5926C>A (p.Pro1976Thr) single nucleotide variant not provided [RCV003885098] Chr22:46394180 [GRCh38]
Chr22:46790077 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3777C>T (p.Asn1259=) single nucleotide variant CELSR1-related disorder [RCV003944325] Chr22:46464113 [GRCh38]
Chr22:46860010 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.6148+6C>T single nucleotide variant CELSR1-related disorder [RCV003921833] Chr22:46391627 [GRCh38]
Chr22:46787524 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4851C>T (p.Phe1617=) single nucleotide variant CELSR1-related disorder [RCV003944653] Chr22:46410480 [GRCh38]
Chr22:46806377 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.2529C>T (p.Thr843=) single nucleotide variant CELSR1-related disorder [RCV003909609] Chr22:46534642 [GRCh38]
Chr22:46930539 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.2112C>T (p.Ser704=) single nucleotide variant CELSR1-related disorder [RCV003896726] Chr22:46535059 [GRCh38]
Chr22:46930956 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.2829C>T (p.Ile943=) single nucleotide variant CELSR1-related disorder [RCV003974555] Chr22:46534342 [GRCh38]
Chr22:46930239 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5964+10C>A single nucleotide variant CELSR1-related disorder [RCV003976407] Chr22:46394132 [GRCh38]
Chr22:46790029 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.2335G>A (p.Val779Ile) single nucleotide variant CELSR1-related disorder [RCV003947106] Chr22:46534836 [GRCh38]
Chr22:46930733 [GRCh37]
Chr22:22q13.31		 benign
NM_001378328.1(CELSR1):c.1986C>T (p.His662=) single nucleotide variant CELSR1-related disorder [RCV003947266] Chr22:46535185 [GRCh38]
Chr22:46931082 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3094G>A (p.Ala1032Thr) single nucleotide variant not specified [RCV004431307] Chr22:46534077 [GRCh38]
Chr22:46929974 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.311G>A (p.Arg104His) single nucleotide variant not specified [RCV004431308] Chr22:46536860 [GRCh38]
Chr22:46932757 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3158A>G (p.Asn1053Ser) single nucleotide variant not specified [RCV004431309] Chr22:46534013 [GRCh38]
Chr22:46929910 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.3554A>G (p.His1185Arg) single nucleotide variant not specified [RCV004431314] Chr22:46464336 [GRCh38]
Chr22:46860233 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4494C>A (p.Asp1498Glu) single nucleotide variant not specified [RCV004431319] Chr22:46436202 [GRCh38]
Chr22:46832099 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.529G>A (p.Gly177Ser) single nucleotide variant not specified [RCV004431324] Chr22:46536642 [GRCh38]
Chr22:46932539 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.640C>T (p.Pro214Ser) single nucleotide variant not specified [RCV004433395] Chr22:46536531 [GRCh38]
Chr22:46932428 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6841G>A (p.Val2281Ile) single nucleotide variant not specified [RCV004433398] Chr22:46384585 [GRCh38]
Chr22:46780482 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.692G>A (p.Arg231Gln) single nucleotide variant not specified [RCV004433399] Chr22:46536479 [GRCh38]
Chr22:46932376 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8089G>A (p.Val2697Ile) single nucleotide variant not specified [RCV004433414] Chr22:46367109 [GRCh38]
Chr22:46763006 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8668G>A (p.Val2890Met) single nucleotide variant not specified [RCV004433420] Chr22:46364623 [GRCh38]
Chr22:46760520 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8834C>T (p.Thr2945Met) single nucleotide variant not specified [RCV004433421] Chr22:46364197 [GRCh38]
Chr22:46760094 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8863G>A (p.Ala2955Thr) single nucleotide variant not specified [RCV004433422] Chr22:46364168 [GRCh38]
Chr22:46760065 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1394T>A (p.Val465Glu) single nucleotide variant not specified [RCV004431299] Chr22:46535777 [GRCh38]
Chr22:46931674 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1082G>T (p.Arg361Leu) single nucleotide variant not specified [RCV004431298] Chr22:46536089 [GRCh38]
Chr22:46931986 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.334C>A (p.Pro112Thr) single nucleotide variant not specified [RCV004431310] Chr22:46536837 [GRCh38]
Chr22:46932734 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3530A>T (p.Glu1177Val) single nucleotide variant not specified [RCV004431312] Chr22:46533641 [GRCh38]
Chr22:46929538 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2771A>G (p.Asn924Ser) single nucleotide variant not specified [RCV004431305] Chr22:46534400 [GRCh38]
Chr22:46930297 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4825G>T (p.Asp1609Tyr) single nucleotide variant not specified [RCV004431320] Chr22:46410506 [GRCh38]
Chr22:46806403 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5696A>G (p.Asp1899Gly) single nucleotide variant not specified [RCV004431325] Chr22:46397679 [GRCh38]
Chr22:46793576 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1530C>G (p.His510Gln) single nucleotide variant not specified [RCV004431301] Chr22:46535641 [GRCh38]
Chr22:46931538 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4343C>T (p.Pro1448Leu) single nucleotide variant not specified [RCV004431317] Chr22:46439252 [GRCh38]
Chr22:46835149 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7105A>C (p.Ile2369Leu) single nucleotide variant not specified [RCV004433405] Chr22:46380939 [GRCh38]
Chr22:46776836 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7859G>A (p.Gly2620Glu) single nucleotide variant not specified [RCV004433410] Chr22:46369705 [GRCh38]
Chr22:46765602 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7994G>A (p.Ser2665Asn) single nucleotide variant not specified [RCV004433412] Chr22:46367814 [GRCh38]
Chr22:46763711 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6544G>A (p.Asp2182Asn) single nucleotide variant Lymphatic malformation 9 [RCV004560439] Chr22:46389301 [GRCh38]
Chr22:46785198 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7256C>T (p.Ala2419Val) single nucleotide variant Lymphatic malformation 9 [RCV004560423] Chr22:46380788 [GRCh38]
Chr22:46776685 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.692G>T (p.Arg231Leu) single nucleotide variant Lymphatic malformation 9 [RCV004560437] Chr22:46536479 [GRCh38]
Chr22:46932376 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4398C>G (p.Ile1466Met) single nucleotide variant not specified [RCV004431318] Chr22:46439197 [GRCh38]
Chr22:46835094 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4964G>C (p.Gly1655Ala) single nucleotide variant not specified [RCV004431321] Chr22:46409850 [GRCh38]
Chr22:46805747 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6079G>A (p.Gly2027Ser) single nucleotide variant not specified [RCV004431328] Chr22:46391702 [GRCh38]
Chr22:46787599 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6969C>G (p.Ile2323Met) single nucleotide variant not specified [RCV004433401] Chr22:46381965 [GRCh38]
Chr22:46777862 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7033C>T (p.Arg2345Cys) single nucleotide variant not specified [RCV004433402] Chr22:46381901 [GRCh38]
Chr22:46777798 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7868T>C (p.Ile2623Thr) single nucleotide variant not specified [RCV004433411] Chr22:46369696 [GRCh38]
Chr22:46765593 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4755G>A (p.Gln1585=) single nucleotide variant EBV-positive nodal T- and NK-cell lymphoma [RCV004558117] Chr22:46411616 [GRCh38]
Chr22:46807513 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.7715G>A (p.Arg2572Gln) single nucleotide variant Lymphatic malformation 9 [RCV004560432] Chr22:46372927 [GRCh38]
Chr22:46768824 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3026A>G (p.Glu1009Gly) single nucleotide variant not specified [RCV004431306] Chr22:46534145 [GRCh38]
Chr22:46930042 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.353C>T (p.Ala118Val) single nucleotide variant not specified [RCV004431313] Chr22:46536818 [GRCh38]
Chr22:46932715 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4249A>G (p.Thr1417Ala) single nucleotide variant CELSR1-related disorder [RCV004738961]|not specified [RCV004431316] Chr22:46439346 [GRCh38]
Chr22:46835243 [GRCh37]
Chr22:22q13.31		 likely benign|uncertain significance
NM_001378328.1(CELSR1):c.584G>A (p.Arg195Gln) single nucleotide variant not specified [RCV004431327] Chr22:46536587 [GRCh38]
Chr22:46932484 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1837G>A (p.Gly613Arg) single nucleotide variant not specified [RCV004431303] Chr22:46535334 [GRCh38]
Chr22:46931231 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7089G>C (p.Arg2363=) single nucleotide variant not specified [RCV004433403] Chr22:46380955 [GRCh38]
Chr22:46776852 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.8032G>A (p.Asp2678Asn) single nucleotide variant not specified [RCV004433413] Chr22:46367776 [GRCh38]
Chr22:46763673 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8294T>A (p.Ile2765Asn) single nucleotide variant not specified [RCV004433416] Chr22:46366392 [GRCh38]
Chr22:46762289 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3169C>T (p.Arg1057Cys) single nucleotide variant Lymphatic malformation 9 [RCV004560421] Chr22:46534002 [GRCh38]
Chr22:46929899 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6304T>C (p.Phe2102Leu) single nucleotide variant not specified [RCV004612511] Chr22:46390433 [GRCh38]
Chr22:46786330 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4108G>A (p.Asp1370Asn) single nucleotide variant not specified [RCV004612521] Chr22:46463782 [GRCh38]
Chr22:46859679 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4030A>G (p.Ile1344Val) single nucleotide variant not specified [RCV004612525] Chr22:46463860 [GRCh38]
Chr22:46859757 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3377G>A (p.Cys1126Tyr) single nucleotide variant not specified [RCV004431311] Chr22:46533794 [GRCh38]
Chr22:46929691 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4198G>A (p.Val1400Met) single nucleotide variant not specified [RCV004431315] Chr22:46439397 [GRCh38]
Chr22:46835294 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5270C>T (p.Ser1757Phe) single nucleotide variant not specified [RCV004431323] Chr22:46399859 [GRCh38]
Chr22:46795756 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6131C>T (p.Thr2044Ile) single nucleotide variant not specified [RCV004431329] Chr22:46391650 [GRCh38]
Chr22:46787547 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8593G>A (p.Asp2865Asn) single nucleotide variant not specified [RCV004433419] Chr22:46364698 [GRCh38]
Chr22:46760595 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.182C>G (p.Pro61Arg) single nucleotide variant not specified [RCV004431302] Chr22:46536989 [GRCh38]
Chr22:46932886 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6622C>G (p.Arg2208Gly) single nucleotide variant not specified [RCV004433397] Chr22:46386519 [GRCh38]
Chr22:46782416 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7099C>T (p.Arg2367Trp) single nucleotide variant not specified [RCV004433404] Chr22:46380945 [GRCh38]
Chr22:46776842 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7285C>T (p.Arg2429Trp) single nucleotide variant not specified [RCV004433407] Chr22:46378689 [GRCh38]
Chr22:46774586 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7343C>T (p.Thr2448Ile) single nucleotide variant not specified [RCV004433408] Chr22:46378631 [GRCh38]
Chr22:46774528 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7525G>A (p.Val2509Met) single nucleotide variant not specified [RCV004433409] Chr22:46377120 [GRCh38]
Chr22:46773017 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8273C>G (p.Ser2758Cys) single nucleotide variant not provided [RCV004775556]|not specified [RCV004433415] Chr22:46366413 [GRCh38]
Chr22:46762310 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8384G>T (p.Arg2795Met) single nucleotide variant not specified [RCV004433417] Chr22:46365606 [GRCh38]
Chr22:46761503 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8536G>A (p.Val2846Ile) single nucleotide variant not specified [RCV004433418] Chr22:46365249 [GRCh38]
Chr22:46761146 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4000A>G (p.Thr1334Ala) single nucleotide variant not specified [RCV004612523] Chr22:46463890 [GRCh38]
Chr22:46859787 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4121C>G (p.Ala1374Gly) single nucleotide variant not specified [RCV004612533] Chr22:46463769 [GRCh38]
Chr22:46859666 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2885C>T (p.Ala962Val) single nucleotide variant not specified [RCV004612536] Chr22:46534286 [GRCh38]
Chr22:46930183 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4430G>A (p.Gly1477Asp) single nucleotide variant not specified [RCV004612547] Chr22:46436266 [GRCh38]
Chr22:46832163 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4555C>T (p.Pro1519Ser) single nucleotide variant not specified [RCV004612546] Chr22:46433449 [GRCh38]
Chr22:46829346 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4001C>A (p.Thr1334Asn) single nucleotide variant not specified [RCV004612524] Chr22:46463889 [GRCh38]
Chr22:46859786 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4109A>G (p.Asp1370Gly) single nucleotide variant not specified [RCV004612532] Chr22:46463781 [GRCh38]
Chr22:46859678 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.220G>A (p.Ala74Thr) single nucleotide variant not specified [RCV004612534] Chr22:46536951 [GRCh38]
Chr22:46932848 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1628C>T (p.Pro543Leu) single nucleotide variant not specified [RCV004612513] Chr22:46535543 [GRCh38]
Chr22:46931440 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2863C>T (p.Arg955Trp) single nucleotide variant not specified [RCV004612516] Chr22:46534308 [GRCh38]
Chr22:46930205 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4090A>G (p.Ile1364Val) single nucleotide variant not specified [RCV004612529] Chr22:46463800 [GRCh38]
Chr22:46859697 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2029G>A (p.Val677Met) single nucleotide variant not specified [RCV004612535] Chr22:46535142 [GRCh38]
Chr22:46931039 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7402C>G (p.Leu2468Val) single nucleotide variant not specified [RCV004612542] Chr22:46377243 [GRCh38]
Chr22:46773140 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6889C>A (p.Pro2297Thr) single nucleotide variant not specified [RCV004612543] Chr22:46382045 [GRCh38]
Chr22:46777942 [GRCh37]
Chr22:22q13.31		 uncertain significance
NC_000022.10:g.(?_45958792)_(46971995_?)del deletion not provided [RCV004579284] Chr22:45958792..46971995 [GRCh37]
Chr22:22q13.31		 pathogenic
NM_001378328.1(CELSR1):c.349C>A (p.Arg117Ser) single nucleotide variant not specified [RCV004612508] Chr22:46536822 [GRCh38]
Chr22:46932719 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4129C>T (p.Arg1377Cys) single nucleotide variant not specified [RCV004612520] Chr22:46463761 [GRCh38]
Chr22:46859658 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4568G>C (p.Ser1523Thr) single nucleotide variant not specified [RCV004612522] Chr22:46433436 [GRCh38]
Chr22:46829333 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3493G>A (p.Asp1165Asn) single nucleotide variant not specified [RCV004612528] Chr22:46533678 [GRCh38]
Chr22:46929575 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4092C>G (p.Ile1364Met) single nucleotide variant not specified [RCV004612530] Chr22:46463798 [GRCh38]
Chr22:46859695 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5206C>G (p.Pro1736Ala) single nucleotide variant not specified [RCV004612541] Chr22:46409016 [GRCh38]
Chr22:46804913 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.7130C>T (p.Thr2377Met) single nucleotide variant not specified [RCV004612509] Chr22:46380914 [GRCh38]
Chr22:46776811 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4034A>C (p.Asn1345Thr) single nucleotide variant not specified [RCV004612527] Chr22:46463856 [GRCh38]
Chr22:46859753 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4103A>T (p.Tyr1368Phe) single nucleotide variant not specified [RCV004612531] Chr22:46463787 [GRCh38]
Chr22:46859684 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3968G>A (p.Arg1323Gln) single nucleotide variant not specified [RCV004612538] Chr22:46463922 [GRCh38]
Chr22:46859819 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.992C>T (p.Pro331Leu) single nucleotide variant not specified [RCV004612550] Chr22:46536179 [GRCh38]
Chr22:46932076 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2521A>G (p.Ser841Gly) single nucleotide variant not specified [RCV004612549] Chr22:46534650 [GRCh38]
Chr22:46930547 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.10C>T (p.Pro4Ser) single nucleotide variant not specified [RCV004612544] Chr22:46537161 [GRCh38]
Chr22:46933058 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4419G>C (p.Gln1473His) single nucleotide variant not specified [RCV004612512] Chr22:46436277 [GRCh38]
Chr22:46832174 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1474G>A (p.Ala492Thr) single nucleotide variant not specified [RCV004612517] Chr22:46535697 [GRCh38]
Chr22:46931594 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.320C>A (p.Ala107Glu) single nucleotide variant not specified [RCV004612518] Chr22:46536851 [GRCh38]
Chr22:46932748 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8356G>A (p.Gly2786Arg) single nucleotide variant not specified [RCV004612519] Chr22:46365634 [GRCh38]
Chr22:46761531 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1822G>A (p.Ala608Thr) single nucleotide variant not specified [RCV004612539] Chr22:46535349 [GRCh38]
Chr22:46931246 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2407C>T (p.Pro803Ser) single nucleotide variant not specified [RCV004612545] Chr22:46534764 [GRCh38]
Chr22:46930661 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8527del (p.Arg2843fs) deletion not provided [RCV004599093] Chr22:46365258 [GRCh38]
Chr22:46761155 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.3293C>T (p.Pro1098Leu) single nucleotide variant not specified [RCV004612510] Chr22:46533878 [GRCh38]
Chr22:46929775 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2941G>T (p.Ala981Ser) single nucleotide variant not specified [RCV004612540] Chr22:46534230 [GRCh38]
Chr22:46930127 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2448_2450del (p.Glu816del) deletion not provided [RCV004576016] Chr22:46534721..46534723 [GRCh38]
Chr22:46930618..46930620 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.5702-1G>A single nucleotide variant not provided [RCV004696762] Chr22:46396747 [GRCh38]
Chr22:46792644 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.6978_6983del (p.Arg2327_Arg2328del) deletion not provided [RCV004759952]   uncertain significance
NM_001378328.1(CELSR1):c.8232C>T (p.Phe2744=) single nucleotide variant CELSR1-related disorder [RCV004739922] Chr22:46366454 [GRCh38]
Chr22:46762351 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.5446C>A (p.Leu1816Met) single nucleotide variant not provided [RCV004768329] Chr22:46398604 [GRCh38]
Chr22:46794501 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1010C>T (p.Thr337Ile) single nucleotide variant not provided [RCV004723998] Chr22:46536161 [GRCh38]
Chr22:46932058 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8618G>A (p.Ser2873Asn) single nucleotide variant CELSR1-related disorder [RCV004739829] Chr22:46364673 [GRCh38]
Chr22:46760570 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1473C>G (p.Asn491Lys) single nucleotide variant CELSR1-related disorder [RCV004739874] Chr22:46535698 [GRCh38]
Chr22:46931595 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.573T>A (p.Ala191=) single nucleotide variant CELSR1-related disorder [RCV004729713] Chr22:46536598 [GRCh38]
Chr22:46932495 [GRCh37]
Chr22:22q13.31		 likely benign
NM_001378328.1(CELSR1):c.4821AGA[1] (p.Glu1608del) microsatellite not provided [RCV004763097]   uncertain significance
NM_001378328.1(CELSR1):c.2515C>T (p.Pro839Ser) single nucleotide variant not provided [RCV004760280]   uncertain significance
NM_001378328.1(CELSR1):c.6628G>A (p.Glu2210Lys) single nucleotide variant not provided [RCV004763217]   uncertain significance
NM_001378328.1(CELSR1):c.8909G>A (p.Gly2970Asp) single nucleotide variant not provided [RCV004722102] Chr22:46364122 [GRCh38]
Chr22:46760019 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1100A>G (p.Glu367Gly) single nucleotide variant not provided [RCV004773911] Chr22:46536071 [GRCh38]
Chr22:46931968 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8911T>C (p.Ser2971Pro) single nucleotide variant not provided [RCV004770796] Chr22:46364120 [GRCh38]
Chr22:46760017 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.4447G>T (p.Gly1483Cys) single nucleotide variant not provided [RCV004775918] Chr22:46436249 [GRCh38]
Chr22:46832146 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1810C>T (p.Leu604=) single nucleotide variant not provided [RCV004768092] Chr22:46535361 [GRCh38]
Chr22:46931258 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.1804_1805delinsGTGGCGT (p.Tyr602fs) indel not provided [RCV004766397] Chr22:46535366..46535367 [GRCh38]
Chr22:46931263..46931264 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.2017G>A (p.Val673Met) single nucleotide variant not provided [RCV004761212]   uncertain significance
NM_001378328.1(CELSR1):c.5959T>C (p.Cys1987Arg) single nucleotide variant not provided [RCV004773404] Chr22:46394147 [GRCh38]
Chr22:46790044 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_001378328.1(CELSR1):c.8555-10C>G single nucleotide variant CELSR1-related disorder [RCV004739893] Chr22:46364746 [GRCh38]
Chr22:46760643 [GRCh37]
Chr22:22q13.31		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2458
Count of miRNA genes:1018
Interacting mature miRNAs:1235
Transcripts:ENST00000262738, ENST00000395964, ENST00000454637, ENST00000468025, ENST00000473624, ENST00000497509
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407214148GWAS863124_Hbrain measurement QTL GWAS863124 (human)5e-50brain measurementbrain measurement (CMO:0000911)224636458446364585Human
406900290GWAS549266_Hsusceptibility to scarlet fever measurement QTL GWAS549266 (human)0.000009susceptibility to scarlet fever measurement224639647046396471Human
406901061GWAS550037_Hneuroimaging measurement QTL GWAS550037 (human)5e-12neuroimaging measurement224636458446364585Human
407326338GWAS975314_Hcortical surface area measurement QTL GWAS975314 (human)2e-14cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)224636458446364585Human
407210825GWAS859801_Hheart rate QTL GWAS859801 (human)0.000001heart rateheart rate (CMO:0000002)224642953246429533Human
407210824GWAS859800_Hheart rate QTL GWAS859800 (human)0.000001heart rateheart rate (CMO:0000002)224642310846423109Human
407262546GWAS911522_Hbrain measurement QTL GWAS911522 (human)6e-10brain measurementbrain measurement (CMO:0000911)224636458446364585Human
407174621GWAS823597_Hcortical surface area measurement QTL GWAS823597 (human)1e-15cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)224636458446364585Human
406992856GWAS641832_Hestradiol measurement QTL GWAS641832 (human)3e-08estradiol measurementblood estradiol level (CMO:0000513)224637485946374860Human
407318556GWAS967532_Hrevision of total hip arthroplasty, aseptic loosening QTL GWAS967532 (human)0.0000008revision of total hip arthroplasty, aseptic loosening224652799346527994Human
407192101GWAS841077_Hcortical thickness QTL GWAS841077 (human)2e-12cortical thickness224636458446364585Human
407262626GWAS911602_Hheart rate QTL GWAS911602 (human)0.000002heart rateheart rate (CMO:0000002)224641704646417047Human
407262627GWAS911603_Hheart rate QTL GWAS911603 (human)0.000002heart rateheart rate (CMO:0000002)224641721546417216Human
407015013GWAS663989_Heye colour measurement QTL GWAS663989 (human)0.000004eye colour measurementeye morphological measurement (CMO:0003080)224642541246425413Human
406898856GWAS547832_Hcaudate nucleus measurement, functional brain measurement, response to reward QTL GWAS547832 (human)0.000008caudate nucleus measurement, functional brain measurement, response to rewardbrain physiological measurement (CMO:0001969)224638488846384889Human
407263150GWAS912126_Hheart rate QTL GWAS912126 (human)4e-08heart rateheart rate (CMO:0000002)224642249346422494Human
407259690GWAS908666_Hvaginal microbiome measurement QTL GWAS908666 (human)0.000005vaginal microbiome measurement224652671446526715Human
406984178GWAS633154_Hlymphoid leukemia QTL GWAS633154 (human)6e-08lymphoid leukemia224646980846469809Human
407053810GWAS702786_Hheel bone mineral density QTL GWAS702786 (human)2e-09heel bone mineral densitybone mineral density (CMO:0001226)224640911046409111Human
407064433GWAS713409_Hbrain measurement QTL GWAS713409 (human)3e-08brain measurementbrain measurement (CMO:0000911)224636458446364585Human
407294004GWAS942980_Hcortical thickness QTL GWAS942980 (human)8e-14cortical thickness224636458446364585Human
407165884GWAS814860_Hcardiac troponin T measurement QTL GWAS814860 (human)0.000002cardiac troponin T measurementblood troponin T level (CMO:0001284)224642147646421477Human
407210813GWAS859789_Hheart rate QTL GWAS859789 (human)3e-08heart rateheart rate (CMO:0000002)224642249346422494Human
406937720GWAS586696_Hbladder exstrophy QTL GWAS586696 (human)0.000003bladder exstrophy224648341746483418Human
407225790GWAS874766_HHDL cholesterol change measurement, response to simvastatin, response to fenofibrate QTL GWAS874766 (human)0.0000007HDL cholesterol change measurement, response to simvastatin, response to fenofibrateblood high density lipoprotein cholesterol level (CMO:0000052)224645833746458338Human
407160632GWAS809608_Hdisease progression measurement QTL GWAS809608 (human)0.000009disease progression measurementdisease progression measurement (CMO:0001110)224651473346514734Human

Markers in Region
RH8140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,786,467 - 46,786,620UniSTSGRCh37
Build 362245,165,131 - 45,165,284RGDNCBI36
Celera2230,693,898 - 30,694,051RGD
Cytogenetic Map22q13.3UniSTS
HuRef2229,730,477 - 29,730,630UniSTS
RH93715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,756,947 - 46,757,076UniSTSGRCh37
Build 362245,135,611 - 45,135,740RGDNCBI36
Celera2230,664,364 - 30,664,493RGD
Cytogenetic Map22q13.3UniSTS
HuRef2229,700,987 - 29,701,116UniSTS
GeneMap99-GB4 RH Map22153.52UniSTS
G65456  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,790,965 - 46,791,323UniSTSGRCh37
Build 362245,169,629 - 45,169,987RGDNCBI36
Celera2230,698,396 - 30,698,754RGD
Cytogenetic Map22q13.3UniSTS
HuRef2229,734,975 - 29,735,333UniSTS
AL031648  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,907,192 - 46,907,368UniSTSGRCh37
Build 362245,285,856 - 45,286,032RGDNCBI36
Celera2230,814,642 - 30,814,818RGD
Cytogenetic Map22q13.3UniSTS
HuRef2229,853,469 - 29,853,645UniSTS
SHGC-33921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,809,559 - 46,809,697UniSTSGRCh37
Build 362245,188,223 - 45,188,361RGDNCBI36
Celera2230,716,991 - 30,717,129RGD
Cytogenetic Map22q13.3UniSTS
HuRef2229,753,455 - 29,753,593UniSTS
GeneMap99-GB4 RH Map22153.15UniSTS
Whitehead-RH Map22177.9UniSTS
NCBI RH Map22220.4UniSTS
GeneMap99-G3 RH Map221516.0UniSTS
CELSR1_4551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,756,653 - 46,757,493UniSTSGRCh37
Build 362245,135,317 - 45,136,157RGDNCBI36
Celera2230,664,070 - 30,664,910RGD
HuRef2229,700,693 - 29,701,533UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2436 2788 2252 4958 1725 2348 6 624 1926 465 2269 7272 6440 50 3719 1 852 1743 1614 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_030466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF231024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL021392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL031597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL831846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262738   ⟹   ENSP00000262738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,360,834 - 46,537,620 (-)Ensembl
Ensembl Acc Id: ENST00000454637   ⟹   ENSP00000414689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,462,779 - 46,537,170 (-)Ensembl
Ensembl Acc Id: ENST00000468025   ⟹   ENSP00000501382
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,372,913 - 46,377,624 (-)Ensembl
Ensembl Acc Id: ENST00000473624   ⟹   ENSP00000501353
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,361,174 - 46,366,438 (-)Ensembl
Ensembl Acc Id: ENST00000497509   ⟹   ENSP00000501499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,530,308 - 46,534,200 (-)Ensembl
Ensembl Acc Id: ENST00000674159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,361,986 - 46,374,084 (-)Ensembl
Ensembl Acc Id: ENST00000674312   ⟹   ENSP00000501397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,390,864 - 46,398,609 (-)Ensembl
Ensembl Acc Id: ENST00000674315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,399,762 - 46,409,276 (-)Ensembl
Ensembl Acc Id: ENST00000674341
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,368,859 - 46,409,274 (-)Ensembl
Ensembl Acc Id: ENST00000674359   ⟹   ENSP00000501512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,390,528 - 46,409,826 (-)Ensembl
Ensembl Acc Id: ENST00000674379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,384,501 - 46,386,497 (-)Ensembl
Ensembl Acc Id: ENST00000674423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,365,225 - 46,366,549 (-)Ensembl
Ensembl Acc Id: ENST00000674500   ⟹   ENSP00000501367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2246,361,174 - 46,537,620 (-)Ensembl
RefSeq Acc Id: NM_001378328   ⟹   NP_001365257
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,361,174 - 46,537,620 (-)NCBI
T2T-CHM13v2.02246,845,906 - 47,025,248 (-)NCBI
Sequence:
RefSeq Acc Id: NM_014246   ⟹   NP_055061
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,361,174 - 46,537,620 (-)NCBI
GRCh372246,756,731 - 46,933,067 (-)RGD
Build 362245,135,395 - 45,311,731 (-)NCBI Archive
Celera2230,664,148 - 30,840,512 (-)RGD
HuRef2229,700,771 - 29,879,343 (-)RGD
CHM1_12246,715,504 - 46,891,675 (-)NCBI
T2T-CHM13v2.02246,845,906 - 47,025,248 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530553   ⟹   XP_011528855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,390,528 - 46,537,620 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530554   ⟹   XP_011528856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,361,174 - 46,466,985 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530555   ⟹   XP_011528857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,361,174 - 46,484,275 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047441624   ⟹   XP_047297580
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,361,174 - 46,537,620 (-)NCBI
RefSeq Acc Id: XM_054326174   ⟹   XP_054182149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,845,906 - 47,025,248 (-)NCBI
RefSeq Acc Id: XM_054326175   ⟹   XP_054182150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,875,392 - 47,025,248 (-)NCBI
RefSeq Acc Id: XM_054326176   ⟹   XP_054182151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,845,906 - 46,951,962 (-)NCBI
RefSeq Acc Id: XM_054326177   ⟹   XP_054182152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02246,845,906 - 46,971,587 (-)NCBI
RefSeq Acc Id: NP_055061   ⟸   NM_014246
- Peptide Label: isoform 2 precursor
- UniProtKB: Q9Y506 (UniProtKB/Swiss-Prot),   Q9BWQ5 (UniProtKB/Swiss-Prot),   Q5TH47 (UniProtKB/Swiss-Prot),   O95722 (UniProtKB/Swiss-Prot),   Q9Y526 (UniProtKB/Swiss-Prot),   Q9NYQ6 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011528857   ⟸   XM_011530555
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011528856   ⟸   XM_011530554
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011528855   ⟸   XM_011530553
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: NP_001365257   ⟸   NM_001378328
- Peptide Label: isoform 1 precursor
- UniProtKB: A0A6I8PRU0 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000501367   ⟸   ENST00000674500
Ensembl Acc Id: ENSP00000501512   ⟸   ENST00000674359
Ensembl Acc Id: ENSP00000501397   ⟸   ENST00000674312
Ensembl Acc Id: ENSP00000501382   ⟸   ENST00000468025
Ensembl Acc Id: ENSP00000414689   ⟸   ENST00000454637
Ensembl Acc Id: ENSP00000501499   ⟸   ENST00000497509
Ensembl Acc Id: ENSP00000262738   ⟸   ENST00000262738
Ensembl Acc Id: ENSP00000501353   ⟸   ENST00000473624
RefSeq Acc Id: XP_047297580   ⟸   XM_047441624
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182149   ⟸   XM_054326174
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054182152   ⟸   XM_054326177
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054182151   ⟸   XM_054326176
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054182150   ⟸   XM_054326175
- Peptide Label: isoform X2
Protein Domains
Cadherin   EGF-like   G-protein coupled receptors family 2 profile   GAIN-B   Laminin EGF-like   Laminin G   Laminin G-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NYQ6-F1-model_v2 AlphaFold Q9NYQ6 1-1400 view protein structure
AF-Q9NYQ6-F2-model_v2 AlphaFold Q9NYQ6 201-1600 view protein structure
AF-Q9NYQ6-F3-model_v2 AlphaFold Q9NYQ6 401-1800 view protein structure
AF-Q9NYQ6-F4-model_v2 AlphaFold Q9NYQ6 601-2000 view protein structure
AF-Q9NYQ6-F5-model_v2 AlphaFold Q9NYQ6 801-2200 view protein structure
AF-Q9NYQ6-F6-model_v2 AlphaFold Q9NYQ6 1001-2400 view protein structure
AF-Q9NYQ6-F7-model_v2 AlphaFold Q9NYQ6 1201-2600 view protein structure
AF-Q9NYQ6-F8-model_v2 AlphaFold Q9NYQ6 1401-2800 view protein structure
AF-Q9NYQ6-F9-model_v2 AlphaFold Q9NYQ6 1601-3000 view protein structure
AF-Q9NYQ6-F10-model_v2 AlphaFold Q9NYQ6 1801-3014 view protein structure

Promoters
RGD ID:6799851
Promoter ID:HG_KWN:43267
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:ENST00000395964,   ENST00000395967,   NM_014246,   OTTHUMT00000318038,   OTTHUMT00000318040
Position:
Human AssemblyChrPosition (strand)Source
Build 362245,312,101 - 45,312,601 (-)MPROMDB
RGD ID:13604464
Promoter ID:EPDNEW_H28416
Type:initiation region
Name:CELSR1_1
Description:cadherin EGF LAG seven-pass G-type receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382246,537,076 - 46,537,136EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1850 AgrOrtholog
COSMIC CELSR1 COSMIC
Ensembl Genes ENSG00000075275 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262738 ENTREZGENE
  ENST00000262738.9 UniProtKB/Swiss-Prot
  ENST00000454637 UniProtKB/TrEMBL
  ENST00000454637.2 UniProtKB/Swiss-Prot
  ENST00000468025.1 UniProtKB/TrEMBL
  ENST00000473624.2 UniProtKB/TrEMBL
  ENST00000497509.1 UniProtKB/TrEMBL
  ENST00000674312.1 UniProtKB/TrEMBL
  ENST00000674359.1 UniProtKB/TrEMBL
  ENST00000674500 ENTREZGENE
  ENST00000674500.2 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.610 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.120.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.220.50 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.1240.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tie2 ligand-binding domain superfamily UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000075275 GTEx
HGNC ID HGNC:1850 ENTREZGENE
Human Proteome Map CELSR1 Human Proteome Map
InterPro Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_Ca-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GAIN_dom_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GAIN_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_extracell_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_extracellular_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2_secretin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9620 UniProtKB/Swiss-Prot
NCBI Gene 9620 ENTREZGENE
OMIM 604523 OMIM
PANTHER ADHESION G-PROTEIN COUPLED RECEPTOR UniProtKB/TrEMBL
  CADHERIN EGF LAG SEVEN-PASS G-TYPE RECEPTOR 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAT ATYPICAL CADHERIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LATROPHILIN CIRL UniProtKB/TrEMBL
Pfam 7tm_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HRM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26393 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGFLAMININ UniProtKB/TrEMBL
  GPCRSECRETIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_LAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_LAM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F2_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F2_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAM_G_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_CA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Lam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HormR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Family A G protein-coupled receptor-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6I8PIW5_HUMAN UniProtKB/TrEMBL
  A0A6I8PIX5_HUMAN UniProtKB/TrEMBL
  A0A6I8PL36_HUMAN UniProtKB/TrEMBL
  A0A6I8PRD4_HUMAN UniProtKB/TrEMBL
  A0A6I8PRU0 ENTREZGENE, UniProtKB/TrEMBL
  A0A6I8PRV8_HUMAN UniProtKB/TrEMBL
  CELR1_HUMAN UniProtKB/Swiss-Prot
  H0Y7R9_HUMAN UniProtKB/TrEMBL
  L8ECE5_HUMAN UniProtKB/TrEMBL
  O95722 ENTREZGENE
  Q5TH47 ENTREZGENE
  Q9BWQ5 ENTREZGENE
  Q9NYQ6 ENTREZGENE
  Q9Y506 ENTREZGENE
  Q9Y526 ENTREZGENE
UniProt Secondary O95722 UniProtKB/Swiss-Prot
  Q5TH47 UniProtKB/Swiss-Prot
  Q9BWQ5 UniProtKB/Swiss-Prot
  Q9Y506 UniProtKB/Swiss-Prot
  Q9Y526 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 CELSR1  cadherin EGF LAG seven-pass G-type receptor 1  CELSR1  cadherin, EGF LAG seven-pass G-type receptor 1  Symbol and/or name change 5135510 APPROVED
2013-02-27 CELSR1  cadherin, EGF LAG seven-pass G-type receptor 1  CELSR1  cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila)  Symbol and/or name change 5135510 APPROVED