CANT1 (calcium activated nucleotidase 1) - Rat Genome Database

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Gene: CANT1 (calcium activated nucleotidase 1) Homo sapiens
Analyze
Symbol: CANT1
Name: calcium activated nucleotidase 1
RGD ID: 1348972
HGNC Page HGNC:19721
Description: Enables calcium ion binding activity; nucleoside diphosphate phosphatase activity; and protein homodimerization activity. Involved in proteoglycan biosynthetic process. Located in Golgi apparatus and membrane. Implicated in Desbuquois dysplasia and multiple epiphyseal dysplasia 7.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: apyrase 1 homolog (C. lectularius); apyrase homolog; Ca2+-dependent endoplasmic reticulum nucleoside diphosphatase; DBQD; DBQD1; EDM7; micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification; putative MAPK-activating protein PM09; putative NF-kappa-B-activating protein 107; SCAN-1; SCAN1; SHAPY; soluble Ca-activated nucleotidase, isozyme 1; soluble calcium-activated nucleotidase 1; soluble calcium-activated nucleotidase SCAN-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: CANT1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381778,991,716 - 79,009,764 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1778,991,716 - 79,009,867 (-)EnsemblGRCh38hg38GRCh38
GRCh371776,987,798 - 77,005,846 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361774,499,394 - 74,517,433 (-)NCBINCBI36Build 36hg18NCBI36
Build 341774,499,393 - 74,517,433NCBI
Celera1773,585,975 - 73,604,118 (-)NCBICelera
Cytogenetic Map17q25.3NCBI
HuRef1772,408,348 - 72,414,909 (-)NCBIHuRef
CHM1_11777,051,715 - 77,069,816 (-)NCBICHM1_1
T2T-CHM13v2.01779,886,485 - 79,904,693 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal eyelash morphology  (IAGP)
Abnormal femoral neck/head morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormality of the skeletal system  (IAGP)
Accelerated skeletal maturation  (IAGP)
Advanced ossification of carpal bones  (IAGP)
Advanced tarsal ossification  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the abdominal wall musculature  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bell-shaped thorax  (IAGP)
Bifid distal phalanx of the thumb  (IAGP)
Blue sclerae  (IAGP)
Brachydactyly  (IAGP)
Broad femoral neck  (IAGP)
Broad first metatarsal  (IAGP)
Camptodactyly of finger  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Concave nasal ridge  (IAGP)
Coxa valga  (IAGP)
Coxa vara  (IAGP)
Depressed nasal bridge  (IAGP)
Developmental glaucoma  (IAGP)
Disproportionate short-limb short stature  (IAGP)
Elbow dislocation  (IAGP)
Epiphyseal dysplasia  (IAGP)
Flat acetabular roof  (IAGP)
Flattened epiphysis  (IAGP)
Generalized hypotonia  (IAGP)
Generalized-onset seizure  (IAGP)
Genu recurvatum  (IAGP)
Genu varum  (IAGP)
Glaucoma  (IAGP)
Growth delay  (IAGP)
Hyperlordosis  (IAGP)
Hypoplasia of the capital femoral epiphysis  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intrauterine growth retardation  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Kyphosis  (IAGP)
Long philtrum  (IAGP)
Malar flattening  (IAGP)
Medial deviation of the foot  (IAGP)
Metaphyseal widening  (IAGP)
Microretrognathia  (IAGP)
Midface retrusion  (IAGP)
Mild short stature  (IAGP)
Monkey wrench femoral neck  (IAGP)
Motor delay  (IAGP)
Multiple epiphyseal dysplasia  (IAGP)
Myopia  (IAGP)
Narrow chest  (IAGP)
Narrow mouth  (IAGP)
Neonatal respiratory distress  (IAGP)
Obesity  (IAGP)
Osteoarthritis  (IAGP)
Osteoporosis  (IAGP)
Partial duplication of the distal phalanx of the hallux  (IAGP)
Patellar dislocation  (IAGP)
Pes planus  (IAGP)
Phalangeal dislocation  (IAGP)
Platyspondyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Proptosis  (IAGP)
Proximal fibular overgrowth  (IAGP)
Radial deviation of the 2nd finger  (IAGP)
Radioulnar dislocation  (IAGP)
Radioulnar synostosis  (IAGP)
Round face  (IAGP)
Sandal gap  (IAGP)
Scoliosis  (IAGP)
Severe short stature  (IAGP)
Short 1st metacarpal  (IAGP)
Short femoral neck  (IAGP)
Short metatarsal  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Small hand  (IAGP)
Smooth philtrum  (IAGP)
Sparse hair  (IAGP)
Talipes equinovarus  (IAGP)
Toe hyperphalangy  (IAGP)
Triangular shaped phalanges of the hand  (IAGP)
Variable expressivity  (IAGP)
Ventricular septal defect  (IAGP)
Vertebral wedging  (IAGP)
Waddling gait  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Cloning, expression, and functional characterization of a Ca(2+)-dependent endoplasmic reticulum nucleoside diphosphatase. Failer BU, etal., J Biol Chem 2002 Oct 4;277(40):36978-86.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12234496   PMID:12477932   PMID:12600208   PMID:12676900   PMID:12761501   PMID:14702039   PMID:15006348   PMID:15211652   PMID:15248776   PMID:15489334   PMID:16303743   PMID:16751776  
PMID:16835225   PMID:18067325   PMID:18222531   PMID:18451133   PMID:18854154   PMID:19853239   PMID:19948975   PMID:21037275   PMID:21412251   PMID:21435463   PMID:21654728   PMID:21873635  
PMID:22539336   PMID:22658674   PMID:23376485   PMID:23533145   PMID:25468996   PMID:25486376   PMID:26186194   PMID:27432908   PMID:28330694   PMID:28514442   PMID:28742282   PMID:29568061  
PMID:30639242   PMID:31056421   PMID:31102300   PMID:31177093   PMID:31988067   PMID:32296183   PMID:32907608   PMID:33845483   PMID:33961781   PMID:34079125   PMID:34473204   PMID:35068336  
PMID:35271311   PMID:35559673   PMID:35696571   PMID:35748872   PMID:37232246   PMID:37314216   PMID:37689310   PMID:37858061   PMID:38369265   PMID:38569033  


Genomics

Comparative Map Data
CANT1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381778,991,716 - 79,009,764 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1778,991,716 - 79,009,867 (-)EnsemblGRCh38hg38GRCh38
GRCh371776,987,798 - 77,005,846 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361774,499,394 - 74,517,433 (-)NCBINCBI36Build 36hg18NCBI36
Build 341774,499,393 - 74,517,433NCBI
Celera1773,585,975 - 73,604,118 (-)NCBICelera
Cytogenetic Map17q25.3NCBI
HuRef1772,408,348 - 72,414,909 (-)NCBIHuRef
CHM1_11777,051,715 - 77,069,816 (-)NCBICHM1_1
T2T-CHM13v2.01779,886,485 - 79,904,693 (-)NCBIT2T-CHM13v2.0
Cant1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911118,297,115 - 118,309,971 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11118,297,115 - 118,309,912 (-)EnsemblGRCm39 Ensembl
GRCm3811118,406,289 - 118,419,134 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11118,406,289 - 118,419,086 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711118,267,603 - 118,280,366 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611118,222,379 - 118,235,142 (-)NCBIMGSCv36mm8
Celera11130,151,661 - 130,164,477 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1183.15NCBI
Cant1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr810104,135,676 - 104,148,854 (-)NCBIGRCr8
mRatBN7.210103,637,079 - 103,650,240 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl10103,531,504 - 103,650,109 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx10108,737,622 - 108,750,771 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.010108,200,770 - 108,213,920 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.010103,557,779 - 103,570,797 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.010107,432,500 - 107,445,634 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl10107,432,506 - 107,445,522 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.010107,067,498 - 107,080,632 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.410108,405,355 - 108,420,225 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.110108,419,858 - 108,434,729 (-)NCBI
Celera10102,197,201 - 102,210,219 (-)NCBICelera
Cytogenetic Map10q32.3NCBI
Cant1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555063,713,277 - 3,722,390 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555063,707,028 - 3,722,339 (+)NCBIChiLan1.0ChiLan1.0
CANT1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21995,040,674 - 95,059,450 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11799,870,738 - 99,889,512 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01773,068,196 - 73,086,900 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11778,612,406 - 78,626,174 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1778,614,244 - 78,618,317 (-)Ensemblpanpan1.1panPan2
CANT1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.192,428,107 - 2,460,097 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha93,086,771 - 3,118,474 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.093,080,257 - 3,112,283 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl93,077,586 - 3,188,537 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.193,102,660 - 3,134,628 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.093,238,826 - 3,260,399 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.093,309,334 - 3,341,308 (+)NCBIUU_Cfam_GSD_1.0
Cant1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056023,086,869 - 3,093,499 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365943,318,425 - 3,332,973 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365943,318,460 - 3,325,677 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CANT1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl123,188,626 - 3,204,488 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1123,188,622 - 3,207,014 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
CANT1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11670,961,172 - 70,979,915 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1670,960,301 - 70,979,857 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607742,171,445 - 42,236,048 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cant1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248018,326,220 - 8,341,240 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248018,326,928 - 8,341,231 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CANT1
378 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001159773.2(CANT1):c.902_906dup (p.Ser303fs) microsatellite CANT1-related disorder [RCV003904861]|Desbuquois dysplasia 1 [RCV000024005]|not provided [RCV000726652] Chr17:78993849..78993850 [GRCh38]
Chr17:76989931..76989932 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_001159773.2(CANT1):c.228dup (p.Trp77fs) duplication Desbuquois dysplasia 1 [RCV000024006]|not provided [RCV001852562] Chr17:78997394..78997395 [GRCh38]
Chr17:76993476..76993477 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs) deletion Desbuquois dysplasia 1 [RCV000024007]|Inborn genetic diseases [RCV000622333]|not provided [RCV000724659] Chr17:78997345..78997346 [GRCh38]
Chr17:76993427..76993428 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.375G>C (p.Trp125Cys) single nucleotide variant Desbuquois dysplasia 1 [RCV000024009] Chr17:78997248 [GRCh38]
Chr17:76993330 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.-147+1G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000034325] Chr17:79009663 [GRCh38]
Chr17:77005745 [GRCh37]
Chr17:17q25.3		 pathogenic
5'UTR-exon 1 deletion (2703 bp) deletion Desbuquois dysplasia 1 [RCV000000301] Chr17:79009664..79009817 [GRCh38]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.734del (p.Pro245fs) deletion Desbuquois dysplasia 1 [RCV000000302] Chr17:78995119 [GRCh38]
Chr17:76991201 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.909_910insGCCGC (p.Gln304fs) insertion Desbuquois dysplasia 1 [RCV000000305] Chr17:78993846..78993847 [GRCh38]
Chr17:76989928..76989929 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.671T>C (p.Leu224Pro) single nucleotide variant Desbuquois dysplasia 1 [RCV000024008] Chr17:78995182 [GRCh38]
Chr17:76991264 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.676G>A (p.Val226Met) single nucleotide variant Desbuquois dysplasia 1 [RCV000024010]|Epiphyseal dysplasia, multiple, 7 [RCV000509573]|not provided [RCV001380267] Chr17:78995177 [GRCh38]
Chr17:76991259 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_001159773.2(CANT1):c.1079C>A (p.Ala360Asp) single nucleotide variant Desbuquois dysplasia 1 [RCV000024011] Chr17:78993677 [GRCh38]
Chr17:76989759 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys) single nucleotide variant Desbuquois dysplasia 1 [RCV000000303]|Inborn genetic diseases [RCV000623362]|not provided [RCV002512601] Chr17:78993858 [GRCh38]
Chr17:76989940 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_001159773.2(CANT1):c.899G>A (p.Arg300His) single nucleotide variant Desbuquois dysplasia 1 [RCV000000304] Chr17:78993857 [GRCh38]
Chr17:76989939 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.374G>A (p.Trp125Ter) single nucleotide variant Desbuquois dysplasia 1 [RCV000000306] Chr17:78997249 [GRCh38]
Chr17:76993331 [GRCh37]
Chr17:17q25.3		 pathogenic|uncertain significance
NM_001159773.2(CANT1):c.896C>T (p.Pro299Leu) single nucleotide variant CANT1-related disorder [RCV003398396]|Desbuquois dysplasia 1 [RCV000000307] Chr17:78993860 [GRCh38]
Chr17:76989942 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 copy number gain See cases [RCV000050934] Chr17:78901959..83086677 [GRCh38]
Chr17:76898041..81044553 [GRCh37]
Chr17:74409636..78637842 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 copy number gain See cases [RCV000050685] Chr17:78092236..83086677 [GRCh38]
Chr17:76088317..81044553 [GRCh37]
Chr17:73599912..78637842 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3 copy number gain See cases [RCV000052497] Chr17:78918650..83021095 [GRCh38]
Chr17:76914732..80978971 [GRCh37]
Chr17:74426327..78572260 [NCBI36]
Chr17:17q25.3		 pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val) single nucleotide variant Desbuquois dysplasia 1 [RCV000662006]|Epiphyseal dysplasia, multiple, 7 [RCV000662007]|not provided [RCV001855396] Chr17:78993644 [GRCh38]
Chr17:76989726 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
NM_001159773.2(CANT1):c.159T>C (p.Ala53=) single nucleotide variant Desbuquois dysplasia 1 [RCV000377921]|not provided [RCV001514727]|not specified [RCV000175967] Chr17:78997464 [GRCh38]
Chr17:76993546 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.278del (p.Leu93fs) deletion not provided [RCV000175968] Chr17:78997345 [GRCh38]
Chr17:76993427 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.836-9G>A single nucleotide variant Desbuquois dysplasia 1 [RCV001775089]|not provided [RCV000178383] Chr17:78993929 [GRCh38]
Chr17:76990011 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1 copy number loss See cases [RCV000135703] Chr17:78225356..80099979 [GRCh38]
Chr17:76221437..78073778 [GRCh37]
Chr17:73733032..75688373 [NCBI36]
Chr17:17q25.3		 likely pathogenic
GRCh38/hg38 17q25.3(chr17:78484862-79436025)x4 copy number gain See cases [RCV000141790] Chr17:78484862..79436025 [GRCh38]
Chr17:76480944..77432107 [GRCh37]
Chr17:73992539..74943702 [NCBI36]
Chr17:17q25.3		 uncertain significance
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3		 pathogenic
NM_001159773.2(CANT1):c.1026C>T (p.His342=) single nucleotide variant not provided [RCV000178382] Chr17:78993730 [GRCh38]
Chr17:76989812 [GRCh37]
Chr17:17q25.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001159773.2(CANT1):c.862T>C (p.Trp288Arg) single nucleotide variant not provided [RCV000178384] Chr17:78993894 [GRCh38]
Chr17:76989976 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV000372057]|not provided [RCV000724946] Chr17:78997567 [GRCh38]
Chr17:76993649 [GRCh37]
Chr17:17q25.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001159773.2(CANT1):c.6C>T (p.Pro2=) single nucleotide variant not provided [RCV001493800] Chr17:78997617 [GRCh38]
Chr17:76993699 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.-202A>C single nucleotide variant Desbuquois dysplasia 1 [RCV000265205] Chr17:79009719 [GRCh38]
Chr17:77005801 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*445G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000284804] Chr17:78993105 [GRCh38]
Chr17:76989187 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*1032G>T single nucleotide variant Desbuquois dysplasia 1 [RCV000304450] Chr17:78992518 [GRCh38]
Chr17:76988600 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*1424GAAG[1] microsatellite Desbuquois syndrome [RCV000287566] Chr17:78992119..78992122 [GRCh38]
Chr17:76988201..76988204 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.809G>A (p.Arg270Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV000269810] Chr17:78995044 [GRCh38]
Chr17:76991126 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*753C>A single nucleotide variant Desbuquois dysplasia 1 [RCV000277458] Chr17:78992797 [GRCh38]
Chr17:76988879 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*847C>T single nucleotide variant Desbuquois dysplasia 1 [RCV000263191]|not provided [RCV004709783] Chr17:78992703 [GRCh38]
Chr17:76988785 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.*301C>T single nucleotide variant Desbuquois dysplasia 1 [RCV000342162] Chr17:78993249 [GRCh38]
Chr17:76989331 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.433G>T (p.Val145Leu) single nucleotide variant CANT1-related disorder [RCV003957665]|Desbuquois dysplasia 1 [RCV000365329]|not provided [RCV001516452]|not specified [RCV000729124] Chr17:78997190 [GRCh38]
Chr17:76993272 [GRCh37]
Chr17:17q25.3		 benign|likely benign|uncertain significance
NM_001159773.2(CANT1):c.-96C>T single nucleotide variant Desbuquois dysplasia 1 [RCV000306411]|not provided [RCV004703739] Chr17:78997913 [GRCh38]
Chr17:76993995 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.-153G>T single nucleotide variant Desbuquois dysplasia 1 [RCV000309871]|not provided [RCV004709788] Chr17:79009670 [GRCh38]
Chr17:77005752 [GRCh37]
Chr17:17q25.3		 benign|uncertain significance
NM_001159773.2(CANT1):c.-127C>A single nucleotide variant Desbuquois dysplasia 1 [RCV000344910] Chr17:78997944 [GRCh38]
Chr17:76994026 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.287C>T (p.Pro96Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV000273259] Chr17:78997336 [GRCh38]
Chr17:76993418 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.-239A>G single nucleotide variant Desbuquois dysplasia 1 [RCV000361375]|not provided [RCV001613051] Chr17:79009756 [GRCh38]
Chr17:77005838 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.113G>A (p.Arg38His) single nucleotide variant Inborn genetic diseases [RCV003243038]|not provided [RCV000377884] Chr17:78997510 [GRCh38]
Chr17:76993592 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*813G>C single nucleotide variant Desbuquois dysplasia 1 [RCV000369756] Chr17:78992737 [GRCh38]
Chr17:76988819 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) single nucleotide variant Desbuquois dysplasia 1 [RCV000366789]|not provided [RCV000514295] Chr17:78993789 [GRCh38]
Chr17:76989871 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001159773.2(CANT1):c.830C>T (p.Pro277Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV000371390]|not provided [RCV001850742] Chr17:78995023 [GRCh38]
Chr17:76991105 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*174G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000278200] Chr17:78993376 [GRCh38]
Chr17:76989458 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*1794T>G single nucleotide variant Desbuquois dysplasia 1 [RCV000319893] Chr17:78991756 [GRCh38]
Chr17:76987838 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.250G>C (p.Ala84Pro) single nucleotide variant Desbuquois dysplasia 1 [RCV000321258] Chr17:78997373 [GRCh38]
Chr17:76993455 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.966C>T (p.Ser322=) single nucleotide variant not provided [RCV000347224] Chr17:78993790 [GRCh38]
Chr17:76989872 [GRCh37]
Chr17:17q25.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001159773.2(CANT1):c.-23+79T>C single nucleotide variant Desbuquois dysplasia 1 [RCV000375714] Chr17:78997761 [GRCh38]
Chr17:76993843 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.556G>A (p.Val186Ile) single nucleotide variant Desbuquois dysplasia 1 [RCV000308295]|not provided [RCV002056640] Chr17:78997067 [GRCh38]
Chr17:76993149 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.*671T>C single nucleotide variant Desbuquois dysplasia 1 [RCV000325545]|not provided [RCV004709785] Chr17:78992879 [GRCh38]
Chr17:76988961 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001159773.2(CANT1):c.*829G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000331438]|not provided [RCV004709784] Chr17:78992721 [GRCh38]
Chr17:76988803 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001159773.2(CANT1):c.*1476G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000332307] Chr17:78992074 [GRCh38]
Chr17:76988156 [GRCh37]
Chr17:17q25.3		 benign|uncertain significance
NM_001159773.2(CANT1):c.925G>A (p.Glu309Lys) single nucleotide variant not provided [RCV000319487] Chr17:78993831 [GRCh38]
Chr17:76989913 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.1123A>T (p.Met375Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV001124608]|not provided [RCV000893166]|not specified [RCV000354549] Chr17:78993633 [GRCh38]
Chr17:76989715 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001159773.2(CANT1):c.*876G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000355573] Chr17:78992674 [GRCh38]
Chr17:76988756 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*570G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000290520]|not provided [RCV004709787] Chr17:78992980 [GRCh38]
Chr17:76989062 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.*1167G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000291007]|not provided [RCV004694377] Chr17:78992383 [GRCh38]
Chr17:76988465 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*1440G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000389226]|not provided [RCV004709780] Chr17:78992110 [GRCh38]
Chr17:76988192 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.*9G>A single nucleotide variant CANT1-related disorder [RCV003977728]|not provided [RCV004705133]|not specified [RCV000321621] Chr17:78993541 [GRCh38]
Chr17:76989623 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.-23+94T>G single nucleotide variant Desbuquois dysplasia 1 [RCV000337348]|not provided [RCV004694378] Chr17:78997746 [GRCh38]
Chr17:76993828 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.916C>T (p.Arg306Cys) single nucleotide variant Desbuquois dysplasia 1 [RCV000391189] Chr17:78993840 [GRCh38]
Chr17:76989922 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*89G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000335554] Chr17:78993461 [GRCh38]
Chr17:76989543 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*664T>C single nucleotide variant Desbuquois dysplasia 1 [RCV000382670]|not provided [RCV004709786] Chr17:78992886 [GRCh38]
Chr17:76988968 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001159773.2(CANT1):c.*1056T>C single nucleotide variant Desbuquois dysplasia 1 [RCV000408102] Chr17:78992494 [GRCh38]
Chr17:76988576 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001159773.2(CANT1):c.*1093C>T single nucleotide variant Desbuquois dysplasia 1 [RCV000339451]|not provided [RCV004709781] Chr17:78992457 [GRCh38]
Chr17:76988539 [GRCh37]
Chr17:17q25.3		 benign|uncertain significance
NM_001159773.2(CANT1):c.1134G>A (p.Thr378=) single nucleotide variant not provided [RCV000967471]|not specified [RCV000361121] Chr17:78993622 [GRCh38]
Chr17:76989704 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.835+10G>C single nucleotide variant Desbuquois dysplasia 1 [RCV000314281] Chr17:78995008 [GRCh38]
Chr17:76991090 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*919C>G single nucleotide variant Desbuquois dysplasia 1 [RCV000298347] Chr17:78992631 [GRCh38]
Chr17:76988713 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*1376C>G single nucleotide variant Desbuquois dysplasia 1 [RCV000344846] Chr17:78992174 [GRCh38]
Chr17:76988256 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.125G>A (p.Arg42His) single nucleotide variant Desbuquois dysplasia 1 [RCV000267013] Chr17:78997498 [GRCh38]
Chr17:76993580 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*998G>C single nucleotide variant Desbuquois dysplasia 1 [RCV000361463] Chr17:78992552 [GRCh38]
Chr17:76988634 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.1056C>T (p.Asn352=) single nucleotide variant Desbuquois dysplasia 1 [RCV000300382]|not provided [RCV001513120] Chr17:78993700 [GRCh38]
Chr17:76989782 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001159773.2(CANT1):c.-23+25G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000350879]|not provided [RCV001539881] Chr17:78997815 [GRCh38]
Chr17:76993897 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.*964A>G single nucleotide variant Desbuquois dysplasia 1 [RCV000408111]|not provided [RCV004709782] Chr17:78992586 [GRCh38]
Chr17:76988668 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001159773.2(CANT1):c.-22-34C>G single nucleotide variant Desbuquois dysplasia 1 [RCV000280010] Chr17:78997678 [GRCh38]
Chr17:76993760 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*550A>C single nucleotide variant Desbuquois dysplasia 1 [RCV000329272] Chr17:78993000 [GRCh38]
Chr17:76989082 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.734C>T (p.Pro245Leu) single nucleotide variant Desbuquois dysplasia 1 [RCV002250651]|not provided [RCV000520404] Chr17:78995119 [GRCh38]
Chr17:76991201 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001159773.2(CANT1):c.*1264_*1265dup duplication Desbuquois syndrome [RCV000400015] Chr17:78992284..78992285 [GRCh38]
Chr17:76988366..76988367 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.-81G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000399866] Chr17:78997898 [GRCh38]
Chr17:76993980 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*223C>T single nucleotide variant Desbuquois dysplasia 1 [RCV000400549] Chr17:78993327 [GRCh38]
Chr17:76989409 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.-23+39G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000292994] Chr17:78997801 [GRCh38]
Chr17:76993883 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*1479C>A single nucleotide variant Desbuquois dysplasia 1 [RCV000293678] Chr17:78992071 [GRCh38]
Chr17:76988153 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.-233C>T single nucleotide variant Desbuquois dysplasia 1 [RCV000304375] Chr17:79009750 [GRCh38]
Chr17:77005832 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*1484C>A single nucleotide variant Desbuquois dysplasia 1 [RCV000385625] Chr17:78992066 [GRCh38]
Chr17:76988148 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.-146-15C>T single nucleotide variant Desbuquois dysplasia 1 [RCV000407453] Chr17:78997978 [GRCh38]
Chr17:76994060 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.61A>G (p.Ser21Gly) single nucleotide variant Desbuquois dysplasia 1 [RCV000324362] Chr17:78997562 [GRCh38]
Chr17:76993644 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*57G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000391197] Chr17:78993493 [GRCh38]
Chr17:76989575 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.-164G>A single nucleotide variant Desbuquois dysplasia 1 [RCV000357528] Chr17:79009681 [GRCh38]
Chr17:77005763 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*450A>G single nucleotide variant Desbuquois dysplasia 1 [RCV000376871] Chr17:78993100 [GRCh38]
Chr17:76989182 [GRCh37]
Chr17:17q25.3		 uncertain significance
Single allele duplication Desbuquois dysplasia 1 [RCV000593483] Chr17:76989932..76989936 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.1157C>T (p.Pro386Leu) single nucleotide variant not provided [RCV000728868] Chr17:78993599 [GRCh38]
Chr17:76989681 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) single nucleotide variant CANT1-related disorder [RCV003922730]|Desbuquois dysplasia 1 [RCV001124606]|not provided [RCV000426567] Chr17:78993584 [GRCh38]
Chr17:76989666 [GRCh37]
Chr17:17q25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
NM_001159773.2(CANT1):c.511A>T (p.Ile171Phe) single nucleotide variant Epiphyseal dysplasia, multiple, 7 [RCV000509575]|Multiple epiphyseal dysplasia [RCV001291039]|not provided [RCV001363761] Chr17:78997112 [GRCh38]
Chr17:76993194 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met) single nucleotide variant Desbuquois dysplasia 1 [RCV000626284]|not provided [RCV001860476] Chr17:78997072 [GRCh38]
Chr17:76993154 [GRCh37]
Chr17:17q25.3		 likely pathogenic|uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3		 pathogenic
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:76676371-77287185)x3 copy number gain not provided [RCV000683966] Chr17:76676371..77287185 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:76470653-77095130)x4 copy number gain not provided [RCV000683964] Chr17:76470653..77095130 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3 copy number gain not provided [RCV000683965] Chr17:76552611..81041938 [GRCh37]
Chr17:17q25.3		 likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q25.3(chr17:77000079-77001159)x4 copy number gain not provided [RCV000752211] Chr17:77000079..77001159 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.969C>T (p.Ala323=) single nucleotide variant Desbuquois dysplasia 1 [RCV001125603]|not provided [RCV000881262] Chr17:78993787 [GRCh38]
Chr17:76989869 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.194C>T (p.Ala65Val) single nucleotide variant CANT1-related disorder [RCV003918433]|Desbuquois dysplasia 1 [RCV001123611]|not provided [RCV000970329] Chr17:78997429 [GRCh38]
Chr17:76993511 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001159773.2(CANT1):c.1152G>C (p.Leu384=) single nucleotide variant Desbuquois dysplasia 1 [RCV001124607]|not provided [RCV000975988] Chr17:78993604 [GRCh38]
Chr17:76989686 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001159773.2(CANT1):c.801C>T (p.Asn267=) single nucleotide variant CANT1-related disorder [RCV003932891]|not provided [RCV000904815] Chr17:78995052 [GRCh38]
Chr17:76991134 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001159773.2(CANT1):c.643G>A (p.Glu215Lys) single nucleotide variant Desbuquois dysplasia 1 [RCV001260984]|not provided [RCV000996613] Chr17:78995210 [GRCh38]
Chr17:76991292 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_001159773.2(CANT1):c.643G>T (p.Glu215Ter) single nucleotide variant Desbuquois dysplasia 1 [RCV000778522]|not provided [RCV003768428] Chr17:78995210 [GRCh38]
Chr17:76991292 [GRCh37]
Chr17:17q25.3		 pathogenic|uncertain significance
NM_001159773.2(CANT1):c.1011G>A (p.Ala337=) single nucleotide variant not provided [RCV000980554] Chr17:78993745 [GRCh38]
Chr17:76989827 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.432C>T (p.Ala144=) single nucleotide variant not provided [RCV000983053] Chr17:78997191 [GRCh38]
Chr17:76993273 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.147C>T (p.Phe49=) single nucleotide variant Desbuquois dysplasia 1 [RCV001124685]|not provided [RCV000924641] Chr17:78997476 [GRCh38]
Chr17:76993558 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.198C>T (p.Pro66=) single nucleotide variant Desbuquois dysplasia 1 [RCV001123610]|not provided [RCV000970328] Chr17:78997425 [GRCh38]
Chr17:76993507 [GRCh37]
Chr17:17q25.3		 benign|likely benign
GRCh37/hg19 17q25.3(chr17:76857398-77308782)x3 copy number gain not provided [RCV000847151] Chr17:76857398..77308782 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:76857398-77308782)x3 copy number gain not provided [RCV000847163] Chr17:76857398..77308782 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3		 pathogenic
NM_001159773.2(CANT1):c.992C>T (p.Ala331Val) single nucleotide variant Inborn genetic diseases [RCV003239570] Chr17:78993764 [GRCh38]
Chr17:76989846 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*163C>G single nucleotide variant Desbuquois dysplasia 1 [RCV001123519] Chr17:78993387 [GRCh38]
Chr17:76989469 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.632-121G>T single nucleotide variant not provided [RCV001637300] Chr17:78995342 [GRCh38]
Chr17:76991424 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.105G>A (p.Ala35=) single nucleotide variant not provided [RCV000933213] Chr17:78997518 [GRCh38]
Chr17:76993600 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.459C>T (p.Val153=) single nucleotide variant not provided [RCV000971069] Chr17:78997164 [GRCh38]
Chr17:76993246 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.735G>A (p.Pro245=) single nucleotide variant Desbuquois dysplasia 1 [RCV001127699]|not provided [RCV000909623] Chr17:78995118 [GRCh38]
Chr17:76991200 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.87G>A (p.Ala29=) single nucleotide variant not provided [RCV000910960] Chr17:78997536 [GRCh38]
Chr17:76993618 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.*1732T>C single nucleotide variant Desbuquois dysplasia 1 [RCV001127520] Chr17:78991818 [GRCh38]
Chr17:76987900 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.*1731C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001127521] Chr17:78991819 [GRCh38]
Chr17:76987901 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.552G>A (p.Thr184=) single nucleotide variant Desbuquois dysplasia 1 [RCV001127702]|not provided [RCV001856663] Chr17:78997071 [GRCh38]
Chr17:76993153 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.513T>G (p.Ile171Met) single nucleotide variant Desbuquois dysplasia 1 [RCV001127703]|Desbuquois dysplasia 1 [RCV002497541]|not provided [RCV002556790] Chr17:78997110 [GRCh38]
Chr17:76993192 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*352G>A single nucleotide variant Desbuquois dysplasia 1 [RCV001123518] Chr17:78993198 [GRCh38]
Chr17:76989280 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*998G>T single nucleotide variant Desbuquois dysplasia 1 [RCV001124507] Chr17:78992552 [GRCh38]
Chr17:76988634 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.*119G>A single nucleotide variant Desbuquois dysplasia 1 [RCV001124604] Chr17:78993431 [GRCh38]
Chr17:76989513 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.609C>T (p.Asp203=) single nucleotide variant not provided [RCV000912248] Chr17:78997014 [GRCh38]
Chr17:76993096 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.819C>T (p.Ala273=) single nucleotide variant Desbuquois dysplasia 1 [RCV001125606]|not provided [RCV000933910] Chr17:78995034 [GRCh38]
Chr17:76991116 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NC_000017.11:g.79009897T>G single nucleotide variant not provided [RCV001658870] Chr17:79009897 [GRCh38]
Chr17:77005979 [GRCh37]
Chr17:17q25.3		 benign
NC_000017.11:g.79009890dup duplication not provided [RCV001716385] Chr17:79009880..79009881 [GRCh38]
Chr17:77005962..77005963 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.*1359C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001123402] Chr17:78992191 [GRCh38]
Chr17:76988273 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.-23+60A>G single nucleotide variant Desbuquois dysplasia 1 [RCV001125691] Chr17:78997780 [GRCh38]
Chr17:76993862 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.-23+7A>G single nucleotide variant Desbuquois dysplasia 1 [RCV001125692] Chr17:78997833 [GRCh38]
Chr17:76993915 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.119G>A (p.Arg40His) single nucleotide variant Desbuquois dysplasia 1 [RCV001124686]|Inborn genetic diseases [RCV002556701]|not provided [RCV001811666] Chr17:78997504 [GRCh38]
Chr17:76993586 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*748T>A single nucleotide variant Desbuquois dysplasia 1 [RCV001127616] Chr17:78992802 [GRCh38]
Chr17:76988884 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*569C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001127618] Chr17:78992981 [GRCh38]
Chr17:76989063 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.702G>A (p.Thr234=) single nucleotide variant Desbuquois dysplasia 1 [RCV001127700]|not provided [RCV003769223] Chr17:78995151 [GRCh38]
Chr17:76991233 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.570C>T (p.Ile190=) single nucleotide variant Desbuquois dysplasia 1 [RCV001127701]|not provided [RCV001412014] Chr17:78997053 [GRCh38]
Chr17:76993135 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.*1412A>G single nucleotide variant Desbuquois dysplasia 1 [RCV001123401] Chr17:78992138 [GRCh38]
Chr17:76988220 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.632-15A>C single nucleotide variant not provided [RCV002549162]|not specified [RCV001001364] Chr17:78995236 [GRCh38]
Chr17:76991318 [GRCh37]
Chr17:17q25.3		 benign|likely benign
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
NM_001159773.2(CANT1):c.*374C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001123517]|not provided [RCV004694769] Chr17:78993176 [GRCh38]
Chr17:76989258 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.266A>T (p.Asp89Val) single nucleotide variant Desbuquois dysplasia 1 [RCV001123608] Chr17:78997357 [GRCh38]
Chr17:76993439 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.246G>A (p.Ala82=) single nucleotide variant Desbuquois dysplasia 1 [RCV001123609]|not provided [RCV003718344] Chr17:78997377 [GRCh38]
Chr17:76993459 [GRCh37]
Chr17:17q25.3		 benign|uncertain significance
NM_001159773.2(CANT1):c.54C>T (p.Leu18=) single nucleotide variant Desbuquois dysplasia 1 [RCV001124687]|not provided [RCV003769205] Chr17:78997569 [GRCh38]
Chr17:76993651 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.*837C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001125515] Chr17:78992713 [GRCh38]
Chr17:76988795 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*781C>A single nucleotide variant Desbuquois dysplasia 1 [RCV001125516] Chr17:78992769 [GRCh38]
Chr17:76988851 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*696T>G single nucleotide variant Desbuquois dysplasia 1 [RCV001127617] Chr17:78992854 [GRCh38]
Chr17:76988936 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.*1153C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001123403] Chr17:78992397 [GRCh38]
Chr17:76988479 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*157G>A single nucleotide variant Desbuquois dysplasia 1 [RCV001123520] Chr17:78993393 [GRCh38]
Chr17:76989475 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.187C>A (p.Arg63Ser) single nucleotide variant Desbuquois dysplasia 1 [RCV001123612] Chr17:78997436 [GRCh38]
Chr17:76993518 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*1149C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001124505] Chr17:78992401 [GRCh38]
Chr17:76988483 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.*1050C>T single nucleotide variant Desbuquois dysplasia 1 [RCV001124506] Chr17:78992500 [GRCh38]
Chr17:76988582 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.*24G>A single nucleotide variant Desbuquois dysplasia 1 [RCV001124605] Chr17:78993526 [GRCh38]
Chr17:76989608 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.948C>T (p.Gly316=) single nucleotide variant Desbuquois dysplasia 1 [RCV001125604]|not provided [RCV003769209] Chr17:78993808 [GRCh38]
Chr17:76989890 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.835+6A>G single nucleotide variant Desbuquois dysplasia 1 [RCV001125605]|not provided [RCV001862905] Chr17:78995012 [GRCh38]
Chr17:76991094 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:76852029-77297898)x3 copy number gain not provided [RCV001259906] Chr17:76852029..77297898 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.231G>A (p.Trp77Ter) single nucleotide variant Desbuquois dysplasia 1 [RCV001333523] Chr17:78997392 [GRCh38]
Chr17:76993474 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.1063G>A (p.Asp355Asn) single nucleotide variant Inborn genetic diseases [RCV002542986]|not provided [RCV001491846] Chr17:78993693 [GRCh38]
Chr17:76989775 [GRCh37]
Chr17:17q25.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001159773.2(CANT1):c.780G>T (p.Glu260Asp) single nucleotide variant Desbuquois dysplasia 1 [RCV001332905] Chr17:78995073 [GRCh38]
Chr17:76991155 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.627G>T (p.Glu209Asp) single nucleotide variant Desbuquois dysplasia 1 [RCV001333524] Chr17:78996996 [GRCh38]
Chr17:76993078 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.630A>G (p.Lys210=) single nucleotide variant not provided [RCV001306390] Chr17:78996993 [GRCh38]
Chr17:76993075 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.739T>C (p.Trp247Arg) single nucleotide variant Short stature [RCV001268952] Chr17:78995114 [GRCh38]
Chr17:76991196 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001159773.2(CANT1):c.26C>G (p.Pro9Arg) single nucleotide variant not provided [RCV001368790] Chr17:78997597 [GRCh38]
Chr17:76993679 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.67G>T (p.Gly23Trp) single nucleotide variant not provided [RCV001324347] Chr17:78997556 [GRCh38]
Chr17:76993638 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.868G>A (p.Asp290Asn) single nucleotide variant not provided [RCV001314078] Chr17:78993888 [GRCh38]
Chr17:76989970 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.188G>A (p.Arg63His) single nucleotide variant Inborn genetic diseases [RCV003264021]|not provided [RCV001369905] Chr17:78997435 [GRCh38]
Chr17:76993517 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.300G>A (p.Pro100=) single nucleotide variant not provided [RCV001479363] Chr17:78997323 [GRCh38]
Chr17:76993405 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.870C>T (p.Asp290=) single nucleotide variant not provided [RCV001441537] Chr17:78993886 [GRCh38]
Chr17:76989968 [GRCh37]
Chr17:17q25.3		 likely benign
NC_000017.11:g.79009891G>T single nucleotide variant not provided [RCV001536184] Chr17:79009891 [GRCh38]
Chr17:77005973 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.836-202C>G single nucleotide variant not provided [RCV001696337] Chr17:78994122 [GRCh38]
Chr17:76990204 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.-147+53A>G single nucleotide variant not provided [RCV001539125] Chr17:79009611 [GRCh38]
Chr17:77005693 [GRCh37]
Chr17:17q25.3		 benign
NM_001159773.2(CANT1):c.471C>T (p.His157=) single nucleotide variant not provided [RCV003108825] Chr17:78997152 [GRCh38]
Chr17:76993234 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.71dup (p.Leu25fs) duplication not provided [RCV001780713] Chr17:78997551..78997552 [GRCh38]
Chr17:76993633..76993634 [GRCh37]
Chr17:17q25.3		 pathogenic|likely pathogenic
NM_001159773.2(CANT1):c.493A>G (p.Met165Val) single nucleotide variant Abnormality of the skeletal system [RCV001814431] Chr17:78997130 [GRCh38]
Chr17:76993212 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001159773.2(CANT1):c.269C>T (p.Thr90Ile) single nucleotide variant Inborn genetic diseases [RCV002592568]|not provided [RCV002008866] Chr17:78997354 [GRCh38]
Chr17:76993436 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.808C>T (p.Arg270Trp) single nucleotide variant not provided [RCV001971723] Chr17:78995045 [GRCh38]
Chr17:76991127 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.433G>A (p.Val145Met) single nucleotide variant not provided [RCV002044370] Chr17:78997190 [GRCh38]
Chr17:76993272 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.7G>A (p.Val3Met) single nucleotide variant not provided [RCV002020869] Chr17:78997616 [GRCh38]
Chr17:76993698 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.559G>A (p.Val187Ile) single nucleotide variant not provided [RCV001890042] Chr17:78997064 [GRCh38]
Chr17:76993146 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.103G>T (p.Ala35Ser) single nucleotide variant not provided [RCV002008107] Chr17:78997520 [GRCh38]
Chr17:76993602 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.1048del (p.Ile350fs) deletion not provided [RCV001983307] Chr17:78993708 [GRCh38]
Chr17:76989790 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.1133C>T (p.Thr378Met) single nucleotide variant not provided [RCV002022032] Chr17:78993623 [GRCh38]
Chr17:76989705 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.631+11C>A single nucleotide variant Desbuquois dysplasia 1 [RCV001843997] Chr17:78996981 [GRCh38]
Chr17:76993063 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:76770309-77174429) copy number gain not specified [RCV002052606] Chr17:76770309..77174429 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.547C>T (p.Arg183Trp) single nucleotide variant Inborn genetic diseases [RCV004603062]|not provided [RCV001893624] Chr17:78997076 [GRCh38]
Chr17:76993158 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.3(chr17:76852379-77297300)x3 copy number gain not provided [RCV001827821] Chr17:76852379..77297300 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.103G>A (p.Ala35Thr) single nucleotide variant Inborn genetic diseases [RCV003167249]|not provided [RCV001945705] Chr17:78997520 [GRCh38]
Chr17:76993602 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.336C>A (p.Asp112Glu) single nucleotide variant not provided [RCV001993956]|not specified [RCV004690215] Chr17:78997287 [GRCh38]
Chr17:76993369 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.192G>A (p.Pro64=) single nucleotide variant not provided [RCV002038620] Chr17:78997431 [GRCh38]
Chr17:76993513 [GRCh37]
Chr17:17q25.3		 likely benign
NC_000017.10:g.(?_76851749)_(77758841_?)dup duplication Idiopathic generalized epilepsy [RCV001875218] Chr17:76851749..77758841 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.529C>T (p.Leu177Phe) single nucleotide variant not provided [RCV001898619] Chr17:78997094 [GRCh38]
Chr17:76993176 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.436G>A (p.Glu146Lys) single nucleotide variant not provided [RCV002050232] Chr17:78997187 [GRCh38]
Chr17:76993269 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.104C>T (p.Ala35Val) single nucleotide variant not provided [RCV002020252] Chr17:78997519 [GRCh38]
Chr17:76993601 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.311G>A (p.Arg104Gln) single nucleotide variant not provided [RCV001932488] Chr17:78997312 [GRCh38]
Chr17:76993394 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.668G>A (p.Arg223His) single nucleotide variant not provided [RCV001918178] Chr17:78995185 [GRCh38]
Chr17:76991267 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.548G>A (p.Arg183Gln) single nucleotide variant not provided [RCV001879383] Chr17:78997075 [GRCh38]
Chr17:76993157 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.47A>G (p.His16Arg) single nucleotide variant not provided [RCV002016481] Chr17:78997576 [GRCh38]
Chr17:76993658 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.616G>A (p.Gly206Ser) single nucleotide variant not provided [RCV001899919] Chr17:78997007 [GRCh38]
Chr17:76993089 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.477G>A (p.Ala159=) single nucleotide variant not provided [RCV001875742] Chr17:78997146 [GRCh38]
Chr17:76993228 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.1177G>T (p.Val393Leu) single nucleotide variant not provided [RCV001973775] Chr17:78993579 [GRCh38]
Chr17:76989661 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.291A>G (p.Gln97=) single nucleotide variant not provided [RCV001882049] Chr17:78997332 [GRCh38]
Chr17:76993414 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.271T>C (p.Tyr91His) single nucleotide variant not provided [RCV002027871] Chr17:78997352 [GRCh38]
Chr17:76993434 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.1124T>C (p.Met375Thr) single nucleotide variant not provided [RCV002018251] Chr17:78993632 [GRCh38]
Chr17:76989714 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.1010C>T (p.Ala337Val) single nucleotide variant not provided [RCV001906659] Chr17:78993746 [GRCh38]
Chr17:76989828 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.982G>A (p.Gly328Ser) single nucleotide variant Inborn genetic diseases [RCV002545463]|not provided [RCV002035861] Chr17:78993774 [GRCh38]
Chr17:76989856 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.622G>A (p.Val208Met) single nucleotide variant not provided [RCV001996570] Chr17:78997001 [GRCh38]
Chr17:76993083 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.675C>G (p.Tyr225Ter) single nucleotide variant not provided [RCV001953459] Chr17:78995178 [GRCh38]
Chr17:76991260 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.768C>T (p.Ser256=) single nucleotide variant not provided [RCV002086846] Chr17:78995085 [GRCh38]
Chr17:76991167 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1017C>T (p.Val339=) single nucleotide variant not provided [RCV002107530] Chr17:78993739 [GRCh38]
Chr17:76989821 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.836-19G>A single nucleotide variant not provided [RCV002074967] Chr17:78993939 [GRCh38]
Chr17:76990021 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1176C>T (p.Ser392=) single nucleotide variant not provided [RCV002145803] Chr17:78993580 [GRCh38]
Chr17:76989662 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.504C>T (p.Ser168=) single nucleotide variant not provided [RCV002208028] Chr17:78997119 [GRCh38]
Chr17:76993201 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.631+19T>A single nucleotide variant not provided [RCV002128092] Chr17:78996973 [GRCh38]
Chr17:76993055 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.143C>T (p.Thr48Met) single nucleotide variant Inborn genetic diseases [RCV003015241]|not provided [RCV002112155] Chr17:78997480 [GRCh38]
Chr17:76993562 [GRCh37]
Chr17:17q25.3		 likely benign|uncertain significance
NM_001159773.2(CANT1):c.123C>T (p.Pro41=) single nucleotide variant not provided [RCV002147203] Chr17:78997500 [GRCh38]
Chr17:76993582 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.828G>A (p.Gln276=) single nucleotide variant not provided [RCV002112470] Chr17:78995025 [GRCh38]
Chr17:76991107 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.831G>T (p.Pro277=) single nucleotide variant not provided [RCV002104948] Chr17:78995022 [GRCh38]
Chr17:76991104 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.606C>T (p.Ser202=) single nucleotide variant not provided [RCV002209921] Chr17:78997017 [GRCh38]
Chr17:76993099 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.900C>A (p.Arg300=) single nucleotide variant not provided [RCV002158562] Chr17:78993856 [GRCh38]
Chr17:76989938 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.945G>A (p.Lys315=) single nucleotide variant not provided [RCV002154107] Chr17:78993811 [GRCh38]
Chr17:76989893 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.675C>T (p.Tyr225=) single nucleotide variant not provided [RCV002119825] Chr17:78995178 [GRCh38]
Chr17:76991260 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.27G>A (p.Pro9=) single nucleotide variant not provided [RCV002120095] Chr17:78997596 [GRCh38]
Chr17:76993678 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.711G>A (p.Thr237=) single nucleotide variant not provided [RCV002217264] Chr17:78995142 [GRCh38]
Chr17:76991224 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1014G>A (p.Val338=) single nucleotide variant CANT1-related disorder [RCV003958866]|not provided [RCV002135537] Chr17:78993742 [GRCh38]
Chr17:76989824 [GRCh37]
Chr17:17q25.3		 benign|likely benign
NM_001159773.2(CANT1):c.1113C>T (p.Ala371=) single nucleotide variant not provided [RCV002143240] Chr17:78993643 [GRCh38]
Chr17:76989725 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.663C>T (p.Asp221=) single nucleotide variant not provided [RCV002183795] Chr17:78995190 [GRCh38]
Chr17:76991272 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.321C>T (p.Ile107=) single nucleotide variant not provided [RCV002142428] Chr17:78997302 [GRCh38]
Chr17:76993384 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1170C>G (p.Ile390Met) single nucleotide variant not provided [RCV003115141] Chr17:78993586 [GRCh38]
Chr17:76989668 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_76851749)_(78367298_?)dup duplication Pityriasis rubra pilaris [RCV003122634] Chr17:76851749..78367298 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.193G>C (p.Ala65Pro) single nucleotide variant not provided [RCV003121037] Chr17:78997430 [GRCh38]
Chr17:76993512 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.505G>A (p.Asp169Asn) single nucleotide variant not provided [RCV003143968] Chr17:78997118 [GRCh38]
Chr17:76993200 [GRCh37]
Chr17:17q25.3		 uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3 copy number gain not provided [RCV002276051] Chr17:73481509..81043199 [GRCh37]
Chr17:17q25.1-25.3		 pathogenic
NM_001159773.2(CANT1):c.1117T>A (p.Tyr373Asn) single nucleotide variant not provided [RCV002297617] Chr17:78993639 [GRCh38]
Chr17:76989721 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.789_790del (p.Ser264fs) microsatellite not provided [RCV002750183] Chr17:78995063..78995064 [GRCh38]
Chr17:76991145..76991146 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.93G>T (p.Met31Ile) single nucleotide variant not provided [RCV003016066] Chr17:78997530 [GRCh38]
Chr17:76993612 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.405C>T (p.Thr135=) single nucleotide variant not provided [RCV002816356] Chr17:78997218 [GRCh38]
Chr17:76993300 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1005C>G (p.Val335=) single nucleotide variant not provided [RCV002974939] Chr17:78993751 [GRCh38]
Chr17:76989833 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.219T>G (p.Asn73Lys) single nucleotide variant Inborn genetic diseases [RCV002752625] Chr17:78997404 [GRCh38]
Chr17:76993486 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.1177G>A (p.Val393Met) single nucleotide variant Inborn genetic diseases [RCV002818308] Chr17:78993579 [GRCh38]
Chr17:76989661 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.276C>G (p.Pro92=) single nucleotide variant not provided [RCV002616920] Chr17:78997347 [GRCh38]
Chr17:76993429 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.802G>C (p.Ala268Pro) single nucleotide variant Inborn genetic diseases [RCV002683108] Chr17:78995051 [GRCh38]
Chr17:76991133 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.970_975del (p.Ser324_Pro325del) deletion not provided [RCV003032614] Chr17:78993781..78993786 [GRCh38]
Chr17:76989863..76989868 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.667C>T (p.Arg223Cys) single nucleotide variant not provided [RCV002903809] Chr17:78995186 [GRCh38]
Chr17:76991268 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.148T>C (p.Phe50Leu) single nucleotide variant Inborn genetic diseases [RCV002880064] Chr17:78997475 [GRCh38]
Chr17:76993557 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.325G>A (p.Val109Ile) single nucleotide variant not provided [RCV002613614] Chr17:78997298 [GRCh38]
Chr17:76993380 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.159_160inv (p.Ala54Thr) inversion not provided [RCV002751388] Chr17:78997463..78997464 [GRCh38]
Chr17:76993545..76993546 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.180C>T (p.Cys60=) single nucleotide variant not provided [RCV002863850] Chr17:78997443 [GRCh38]
Chr17:76993525 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.503C>G (p.Ser168Cys) single nucleotide variant not provided [RCV002825348] Chr17:78997120 [GRCh38]
Chr17:76993202 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.777C>T (p.His259=) single nucleotide variant not provided [RCV002694773] Chr17:78995076 [GRCh38]
Chr17:76991158 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.434T>C (p.Val145Ala) single nucleotide variant Inborn genetic diseases [RCV002823640] Chr17:78997189 [GRCh38]
Chr17:76993271 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.1005C>T (p.Val335=) single nucleotide variant not provided [RCV002756889] Chr17:78993751 [GRCh38]
Chr17:76989833 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.250G>A (p.Ala84Thr) single nucleotide variant not provided [RCV002639578] Chr17:78997373 [GRCh38]
Chr17:76993455 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.820G>A (p.Gly274Ser) single nucleotide variant Inborn genetic diseases [RCV002761320]|not provided [RCV002761319] Chr17:78995033 [GRCh38]
Chr17:76991115 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.262A>G (p.Asn88Asp) single nucleotide variant not provided [RCV002569566] Chr17:78997361 [GRCh38]
Chr17:76993443 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.210C>T (p.Pro70=) single nucleotide variant not provided [RCV002893958] Chr17:78997413 [GRCh38]
Chr17:76993495 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.603G>A (p.Leu201=) single nucleotide variant not provided [RCV002766234] Chr17:78997020 [GRCh38]
Chr17:76993102 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1029C>A (p.Gly343=) single nucleotide variant not provided [RCV002790108] Chr17:78993727 [GRCh38]
Chr17:76989809 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.149T>C (p.Phe50Ser) single nucleotide variant Inborn genetic diseases [RCV002644636] Chr17:78997474 [GRCh38]
Chr17:76993556 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.178T>C (p.Cys60Arg) single nucleotide variant not provided [RCV002801183] Chr17:78997445 [GRCh38]
Chr17:76993527 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.800A>T (p.Asn267Ile) single nucleotide variant not provided [RCV002572265] Chr17:78995053 [GRCh38]
Chr17:76991135 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.936C>T (p.Asp312=) single nucleotide variant not provided [RCV002765721] Chr17:78993820 [GRCh38]
Chr17:76989902 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.723G>C (p.Val241=) single nucleotide variant not provided [RCV003005836] Chr17:78995130 [GRCh38]
Chr17:76991212 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.798C>T (p.Tyr266=) single nucleotide variant not provided [RCV002572266] Chr17:78995055 [GRCh38]
Chr17:76991137 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.187C>T (p.Arg63Cys) single nucleotide variant Inborn genetic diseases [RCV002719988] Chr17:78997436 [GRCh38]
Chr17:76993518 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.969C>G (p.Ala323=) single nucleotide variant not provided [RCV003046405] Chr17:78993787 [GRCh38]
Chr17:76989869 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.486G>A (p.Gly162=) single nucleotide variant not provided [RCV002676660] Chr17:78997137 [GRCh38]
Chr17:76993219 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1030_1031insC (p.Phe344fs) insertion not provided [RCV002811017] Chr17:78993725..78993726 [GRCh38]
Chr17:76989807..76989808 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.252C>T (p.Ala84=) single nucleotide variant not provided [RCV002670735] Chr17:78997371 [GRCh38]
Chr17:76993453 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.558C>T (p.Val186=) single nucleotide variant not provided [RCV002676597] Chr17:78997065 [GRCh38]
Chr17:76993147 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.425A>C (p.Lys142Thr) single nucleotide variant not provided [RCV002580328] Chr17:78997198 [GRCh38]
Chr17:76993280 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.245C>T (p.Ala82Val) single nucleotide variant Inborn genetic diseases [RCV002934585] Chr17:78997378 [GRCh38]
Chr17:76993460 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.991G>A (p.Ala331Thr) single nucleotide variant not provided [RCV002670964] Chr17:78993765 [GRCh38]
Chr17:76989847 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.205C>T (p.Pro69Ser) single nucleotide variant Inborn genetic diseases [RCV003250749]|not provided [RCV003087496] Chr17:78997418 [GRCh38]
Chr17:76993500 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.726C>T (p.Asn242=) single nucleotide variant not provided [RCV002580950] Chr17:78995127 [GRCh38]
Chr17:76991209 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.836-17G>A single nucleotide variant not provided [RCV002814343] Chr17:78993937 [GRCh38]
Chr17:76990019 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.55C>T (p.Arg19Trp) single nucleotide variant not provided [RCV002633201] Chr17:78997568 [GRCh38]
Chr17:76993650 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.769G>A (p.Val257Met) single nucleotide variant not provided [RCV002607544] Chr17:78995084 [GRCh38]
Chr17:76991166 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.835+18C>T single nucleotide variant not provided [RCV002589561] Chr17:78995000 [GRCh38]
Chr17:76991082 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.885_902dup (p.Arg301_Ala302insPhePheLeuProArgArg) duplication not provided [RCV002634448] Chr17:78993853..78993854 [GRCh38]
Chr17:76989935..76989936 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.1125G>T (p.Met375Ile) single nucleotide variant not provided [RCV003073071] Chr17:78993631 [GRCh38]
Chr17:76989713 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.785G>T (p.Trp262Leu) single nucleotide variant Inborn genetic diseases [RCV003181321] Chr17:78995068 [GRCh38]
Chr17:76991150 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.799_801del (p.Asn267del) deletion not provided [RCV003143967] Chr17:78995052..78995054 [GRCh38]
Chr17:76991134..76991136 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.675C>A (p.Tyr225Ter) single nucleotide variant not provided [RCV003139548] Chr17:78995178 [GRCh38]
Chr17:76991260 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001159773.2(CANT1):c.1136T>C (p.Leu379Pro) single nucleotide variant Inborn genetic diseases [RCV003180525] Chr17:78993620 [GRCh38]
Chr17:76989702 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.1013T>G (p.Val338Gly) single nucleotide variant Inborn genetic diseases [RCV003357877] Chr17:78993743 [GRCh38]
Chr17:76989825 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.118C>T (p.Arg40Cys) single nucleotide variant Inborn genetic diseases [RCV003383355] Chr17:78997505 [GRCh38]
Chr17:76993587 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.595G>A (p.Val199Met) single nucleotide variant Inborn genetic diseases [RCV003367004] Chr17:78997028 [GRCh38]
Chr17:76993110 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.681C>A (p.Gly227=) single nucleotide variant not provided [RCV003569349] Chr17:78995172 [GRCh38]
Chr17:76991254 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.135G>C (p.Val45=) single nucleotide variant not provided [RCV003569456] Chr17:78997488 [GRCh38]
Chr17:76993570 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.189C>T (p.Arg63=) single nucleotide variant not provided [RCV003569703] Chr17:78997434 [GRCh38]
Chr17:76993516 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.835+8A>G single nucleotide variant not provided [RCV003543500] Chr17:78995010 [GRCh38]
Chr17:76991092 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.486del (p.Arg163fs) deletion not provided [RCV003570346] Chr17:78997137 [GRCh38]
Chr17:76993219 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.480G>A (p.Glu160=) single nucleotide variant not provided [RCV003543806] Chr17:78997143 [GRCh38]
Chr17:76993225 [GRCh37]
Chr17:17q25.3		 likely benign
GRCh37/hg19 17q25.3(chr17:76905755-77611113)x3 copy number gain not provided [RCV003485166] Chr17:76905755..77611113 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.273C>T (p.Tyr91=) single nucleotide variant not provided [RCV003421529] Chr17:78997350 [GRCh38]
Chr17:76993432 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.807G>A (p.Leu269=) single nucleotide variant not provided [RCV003573695] Chr17:78995046 [GRCh38]
Chr17:76991128 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.188del (p.Arg63fs) deletion not provided [RCV003695214] Chr17:78997435 [GRCh38]
Chr17:76993517 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.363G>A (p.Glu121=) single nucleotide variant not provided [RCV003577270] Chr17:78997260 [GRCh38]
Chr17:76993342 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.836-11C>G single nucleotide variant not provided [RCV003573972] Chr17:78993931 [GRCh38]
Chr17:76990013 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.237C>T (p.Leu79=) single nucleotide variant not provided [RCV003828446] Chr17:78997386 [GRCh38]
Chr17:76993468 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.918C>T (p.Arg306=) single nucleotide variant not provided [RCV003831618] Chr17:78993838 [GRCh38]
Chr17:76989920 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.666G>A (p.Glu222=) single nucleotide variant not provided [RCV003879654] Chr17:78995187 [GRCh38]
Chr17:76991269 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.714T>G (p.Gly238=) single nucleotide variant not provided [RCV003715193] Chr17:78995139 [GRCh38]
Chr17:76991221 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.144G>A (p.Thr48=) single nucleotide variant not provided [RCV003740150] Chr17:78997479 [GRCh38]
Chr17:76993561 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.117C>T (p.Phe39=) single nucleotide variant not provided [RCV003689377] Chr17:78997506 [GRCh38]
Chr17:76993588 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.835+16C>T single nucleotide variant not provided [RCV003696428] Chr17:78995002 [GRCh38]
Chr17:76991084 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.835+12C>G single nucleotide variant not provided [RCV003825055] Chr17:78995006 [GRCh38]
Chr17:76991088 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.836-5C>T single nucleotide variant not provided [RCV003882435] Chr17:78993925 [GRCh38]
Chr17:76990007 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.915G>A (p.Glu305=) single nucleotide variant not provided [RCV003692671] Chr17:78993841 [GRCh38]
Chr17:76989923 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.108C>T (p.Asp36=) single nucleotide variant not provided [RCV003830174] Chr17:78997515 [GRCh38]
Chr17:76993597 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.631+18T>C single nucleotide variant not provided [RCV003695149] Chr17:78996974 [GRCh38]
Chr17:76993056 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.537C>T (p.Ser179=) single nucleotide variant not provided [RCV003824935] Chr17:78997086 [GRCh38]
Chr17:76993168 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.836-18C>T single nucleotide variant not provided [RCV003713329] Chr17:78993938 [GRCh38]
Chr17:76990020 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.126C>T (p.Arg42=) single nucleotide variant not provided [RCV003689451] Chr17:78997497 [GRCh38]
Chr17:76993579 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1140C>T (p.Asp380=) single nucleotide variant not provided [RCV003715024] Chr17:78993616 [GRCh38]
Chr17:76989698 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.632-17A>G single nucleotide variant not provided [RCV003880589] Chr17:78995238 [GRCh38]
Chr17:76991320 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.855T>G (p.Ser285=) single nucleotide variant not provided [RCV003659728] Chr17:78993901 [GRCh38]
Chr17:76989983 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.501A>G (p.Leu167=) single nucleotide variant not provided [RCV003544397] Chr17:78997122 [GRCh38]
Chr17:76993204 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.631+10C>T single nucleotide variant not provided [RCV003688277] Chr17:78996982 [GRCh38]
Chr17:76993064 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.621C>T (p.Thr207=) single nucleotide variant not provided [RCV003572736] Chr17:78997002 [GRCh38]
Chr17:76993084 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.836-12C>A single nucleotide variant not provided [RCV003691227] Chr17:78993932 [GRCh38]
Chr17:76990014 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1164C>G (p.Thr388=) single nucleotide variant not provided [RCV003881816] Chr17:78993592 [GRCh38]
Chr17:76989674 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1029C>T (p.Gly343=) single nucleotide variant not provided [RCV003663189] Chr17:78993727 [GRCh38]
Chr17:76989809 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1062C>T (p.Asp354=) single nucleotide variant not provided [RCV003662597] Chr17:78993694 [GRCh38]
Chr17:76989776 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.825C>T (p.Ile275=) single nucleotide variant not provided [RCV003713230] Chr17:78995028 [GRCh38]
Chr17:76991110 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.774C>T (p.Asp258=) single nucleotide variant not provided [RCV003548797] Chr17:78995079 [GRCh38]
Chr17:76991161 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1185C>T (p.Tyr395=) single nucleotide variant CANT1-related disorder [RCV003956614]|not provided [RCV003852456] Chr17:78993571 [GRCh38]
Chr17:76989653 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.100delinsTT (p.Ala34fs) indel not provided [RCV003663601] Chr17:78997523 [GRCh38]
Chr17:76993605 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.897G>A (p.Pro299=) single nucleotide variant not provided [RCV003835116] Chr17:78993859 [GRCh38]
Chr17:76989941 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.72C>A (p.Gly24=) single nucleotide variant not provided [RCV003850979] Chr17:78997551 [GRCh38]
Chr17:76993633 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1158G>A (p.Pro386=) single nucleotide variant not provided [RCV003813944] Chr17:78993598 [GRCh38]
Chr17:76989680 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.933C>T (p.Asp311=) single nucleotide variant not provided [RCV003726638] Chr17:78993823 [GRCh38]
Chr17:76989905 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.696G>A (p.Glu232=) single nucleotide variant not provided [RCV003717982] Chr17:78995157 [GRCh38]
Chr17:76991239 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.632-16C>A single nucleotide variant not provided [RCV003852460] Chr17:78995237 [GRCh38]
Chr17:76991319 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.347_348del (p.Glu116fs) microsatellite Desbuquois dysplasia 1 [RCV004594704]|not provided [RCV003665545] Chr17:78997275..78997276 [GRCh38]
Chr17:76993357..76993358 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.632-18G>T single nucleotide variant not provided [RCV003670463] Chr17:78995239 [GRCh38]
Chr17:76991321 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.750G>C (p.Val250=) single nucleotide variant not provided [RCV003699202] Chr17:78995103 [GRCh38]
Chr17:76991185 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.792C>T (p.Ser264=) single nucleotide variant not provided [RCV003699219] Chr17:78995061 [GRCh38]
Chr17:76991143 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1002C>T (p.His334=) single nucleotide variant not provided [RCV003856712] Chr17:78993754 [GRCh38]
Chr17:76989836 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.312G>T (p.Arg104=) single nucleotide variant not provided [RCV003668682] Chr17:78997311 [GRCh38]
Chr17:76993393 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.642C>T (p.Ala214=) single nucleotide variant not provided [RCV003840185] Chr17:78995211 [GRCh38]
Chr17:76991293 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.360A>G (p.Gln120=) single nucleotide variant not provided [RCV003671437] Chr17:78997263 [GRCh38]
Chr17:76993345 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.549del (p.Thr184fs) deletion not provided [RCV003699181] Chr17:78997074 [GRCh38]
Chr17:76993156 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.1059C>G (p.Thr353=) single nucleotide variant not provided [RCV003672029] Chr17:78993697 [GRCh38]
Chr17:76989779 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.632-12_632-11del microsatellite not provided [RCV003723473] Chr17:78995232..78995233 [GRCh38]
Chr17:76991314..76991315 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.831G>A (p.Pro277=) single nucleotide variant not provided [RCV003838186] Chr17:78995022 [GRCh38]
Chr17:76991104 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1131C>T (p.Phe377=) single nucleotide variant not provided [RCV003836193] Chr17:78993625 [GRCh38]
Chr17:76989707 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.972C>T (p.Ser324=) single nucleotide variant not provided [RCV003701385] Chr17:78993784 [GRCh38]
Chr17:76989866 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.836-14C>G single nucleotide variant not provided [RCV003703422] Chr17:78993934 [GRCh38]
Chr17:76990016 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.835+9C>T single nucleotide variant not provided [RCV003837535] Chr17:78995009 [GRCh38]
Chr17:76991091 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.861C>A (p.Cys287Ter) single nucleotide variant not provided [RCV003560034] Chr17:78993895 [GRCh38]
Chr17:76989977 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.87G>T (p.Ala29=) single nucleotide variant not provided [RCV003850073] Chr17:78997536 [GRCh38]
Chr17:76993618 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.836-12C>T single nucleotide variant not provided [RCV003671430] Chr17:78993932 [GRCh38]
Chr17:76990014 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1074T>C (p.Ile358=) single nucleotide variant not provided [RCV003835327] Chr17:78993682 [GRCh38]
Chr17:76989764 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.843C>T (p.Leu281=) single nucleotide variant not provided [RCV003672611] Chr17:78993913 [GRCh38]
Chr17:76989995 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.153G>A (p.Val51=) single nucleotide variant not provided [RCV003854733] Chr17:78997470 [GRCh38]
Chr17:76993552 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.632-5del deletion not provided [RCV003725133] Chr17:78995226 [GRCh38]
Chr17:76991308 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.912G>A (p.Gln304=) single nucleotide variant not provided [RCV003832592] Chr17:78993844 [GRCh38]
Chr17:76989926 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.103del (p.Ala35fs) deletion not provided [RCV003699532] Chr17:78997520 [GRCh38]
Chr17:76993602 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.492C>T (p.Gly164=) single nucleotide variant not provided [RCV003837506] Chr17:78997131 [GRCh38]
Chr17:76993213 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.780G>A (p.Glu260=) single nucleotide variant not provided [RCV003699150] Chr17:78995073 [GRCh38]
Chr17:76991155 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.330C>T (p.Ile110=) single nucleotide variant not provided [RCV003731448] Chr17:78997293 [GRCh38]
Chr17:76993375 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.835+10G>A single nucleotide variant not provided [RCV003847418] Chr17:78995008 [GRCh38]
Chr17:76991090 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.612C>T (p.Gly204=) single nucleotide variant not provided [RCV003727275] Chr17:78997011 [GRCh38]
Chr17:76993093 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1158G>C (p.Pro386=) single nucleotide variant not provided [RCV003824263] Chr17:78993598 [GRCh38]
Chr17:76989680 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.648G>A (p.Trp216Ter) single nucleotide variant not provided [RCV003709313] Chr17:78995205 [GRCh38]
Chr17:76991287 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.955C>T (p.Leu319=) single nucleotide variant not provided [RCV003563369] Chr17:78993801 [GRCh38]
Chr17:76989883 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.432C>G (p.Ala144=) single nucleotide variant not provided [RCV003822772] Chr17:78997191 [GRCh38]
Chr17:76993273 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.835+11C>A single nucleotide variant not provided [RCV003681392] Chr17:78995007 [GRCh38]
Chr17:76991089 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.429G>A (p.Val143=) single nucleotide variant not provided [RCV003729945] Chr17:78997194 [GRCh38]
Chr17:76993276 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.960G>A (p.Leu320=) single nucleotide variant not provided [RCV003843751] Chr17:78993796 [GRCh38]
Chr17:76989878 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.631+13T>C single nucleotide variant not provided [RCV003703770] Chr17:78996979 [GRCh38]
Chr17:76993061 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.111C>T (p.Pro37=) single nucleotide variant not provided [RCV003709956] Chr17:78997512 [GRCh38]
Chr17:76993594 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.876G>A (p.Leu292=) single nucleotide variant not provided [RCV003719266] Chr17:78993880 [GRCh38]
Chr17:76989962 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.798C>A (p.Tyr266Ter) single nucleotide variant not provided [RCV003721105] Chr17:78995055 [GRCh38]
Chr17:76991137 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.249C>T (p.Pro83=) single nucleotide variant not provided [RCV003872515] Chr17:78997374 [GRCh38]
Chr17:76993456 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.891C>T (p.Phe297=) single nucleotide variant not provided [RCV003709646] Chr17:78993865 [GRCh38]
Chr17:76989947 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.972C>G (p.Ser324=) single nucleotide variant not provided [RCV003675731] Chr17:78993784 [GRCh38]
Chr17:76989866 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.51C>T (p.Ser17=) single nucleotide variant not provided [RCV003711759] Chr17:78997572 [GRCh38]
Chr17:76993654 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.15G>C (p.Leu5=) single nucleotide variant not provided [RCV003733489] Chr17:78997608 [GRCh38]
Chr17:76993690 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.384C>T (p.Tyr128=) single nucleotide variant not provided [RCV003871099] Chr17:78997239 [GRCh38]
Chr17:76993321 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.124del (p.Arg42fs) deletion not provided [RCV003677285] Chr17:78997499 [GRCh38]
Chr17:76993581 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.81G>A (p.Val27=) single nucleotide variant not provided [RCV003565300] Chr17:78997542 [GRCh38]
Chr17:76993624 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.258G>A (p.Trp86Ter) single nucleotide variant not provided [RCV003871667] Chr17:78997365 [GRCh38]
Chr17:76993447 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.681C>T (p.Gly227=) single nucleotide variant not provided [RCV003860485] Chr17:78995172 [GRCh38]
Chr17:76991254 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1110C>T (p.Val370=) single nucleotide variant not provided [RCV003675341] Chr17:78993646 [GRCh38]
Chr17:76989728 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.632-12C>T single nucleotide variant not provided [RCV003872259] Chr17:78995233 [GRCh38]
Chr17:76991315 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1101C>T (p.Ser367=) single nucleotide variant not provided [RCV003820596] Chr17:78993655 [GRCh38]
Chr17:76989737 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.810G>C (p.Arg270=) single nucleotide variant not provided [RCV003819005] Chr17:78995043 [GRCh38]
Chr17:76991125 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.316C>T (p.Arg106Ter) single nucleotide variant not provided [RCV003722418] Chr17:78997307 [GRCh38]
Chr17:76993389 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.1035G>A (p.Ser345=) single nucleotide variant not provided [RCV003824228] Chr17:78993721 [GRCh38]
Chr17:76989803 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.836-4C>T single nucleotide variant not provided [RCV003711322] Chr17:78993924 [GRCh38]
Chr17:76990006 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.835+17C>T single nucleotide variant not provided [RCV003709701] Chr17:78995001 [GRCh38]
Chr17:76991083 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.33G>A (p.Trp11Ter) single nucleotide variant not provided [RCV003723124] Chr17:78997590 [GRCh38]
Chr17:76993672 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.954C>T (p.Asn318=) single nucleotide variant not provided [RCV003684319] Chr17:78993802 [GRCh38]
Chr17:76989884 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.615C>T (p.Asp205=) single nucleotide variant not provided [RCV003870432] Chr17:78997008 [GRCh38]
Chr17:76993090 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.112dup (p.Arg38fs) duplication not provided [RCV003870433] Chr17:78997510..78997511 [GRCh38]
Chr17:76993592..76993593 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.836-5C>G single nucleotide variant not provided [RCV003870464] Chr17:78993925 [GRCh38]
Chr17:76990007 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.632-80_632-15dup duplication not provided [RCV003870466] Chr17:78995235..78995236 [GRCh38]
Chr17:76991317..76991318 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.390A>G (p.Lys130=) single nucleotide variant not provided [RCV003562770] Chr17:78997233 [GRCh38]
Chr17:76993315 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1089C>T (p.Ser363=) single nucleotide variant not provided [RCV003847927] Chr17:78993667 [GRCh38]
Chr17:76989749 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.990C>T (p.Ile330=) single nucleotide variant not provided [RCV003722253] Chr17:78993766 [GRCh38]
Chr17:76989848 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.540G>A (p.Val180=) single nucleotide variant not provided [RCV003555454] Chr17:78997083 [GRCh38]
Chr17:76993165 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.399C>T (p.Tyr133=) single nucleotide variant not provided [RCV003705778] Chr17:78997224 [GRCh38]
Chr17:76993306 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.595del (p.Trp198_Val199insTer) deletion not provided [RCV003853137] Chr17:78997028 [GRCh38]
Chr17:76993110 [GRCh37]
Chr17:17q25.3		 pathogenic
NM_001159773.2(CANT1):c.963G>A (p.Leu321=) single nucleotide variant not provided [RCV003567826] Chr17:78993793 [GRCh38]
Chr17:76989875 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.961C>T (p.Leu321=) single nucleotide variant not provided [RCV003862328] Chr17:78993795 [GRCh38]
Chr17:76989877 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.906C>T (p.Ala302=) single nucleotide variant not provided [RCV003709465] Chr17:78993850 [GRCh38]
Chr17:76989932 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.102C>T (p.Ala34=) single nucleotide variant not provided [RCV003844859] Chr17:78997521 [GRCh38]
Chr17:76993603 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1205A>G (p.Ter402=) single nucleotide variant not provided [RCV003678394] Chr17:78993551 [GRCh38]
Chr17:76989633 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.465G>A (p.Glu155=) single nucleotide variant not provided [RCV003674988] Chr17:78997158 [GRCh38]
Chr17:76993240 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.172C>T (p.Leu58=) single nucleotide variant not provided [RCV003564217] Chr17:78997451 [GRCh38]
Chr17:76993533 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.139C>T (p.Leu47=) single nucleotide variant not provided [RCV003824431] Chr17:78997484 [GRCh38]
Chr17:76993566 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.711G>C (p.Thr237=) single nucleotide variant not provided [RCV003847236] Chr17:78995142 [GRCh38]
Chr17:76991224 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.858C>T (p.Ala286=) single nucleotide variant not provided [RCV003677759] Chr17:78993898 [GRCh38]
Chr17:76989980 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.981C>T (p.Phe327=) single nucleotide variant not provided [RCV003678924] Chr17:78993775 [GRCh38]
Chr17:76989857 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.1186G>C (p.Glu396Gln) single nucleotide variant Desbuquois dysplasia 1 [RCV003991993] Chr17:78993570 [GRCh38]
Chr17:76989652 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.836G>A (p.Gly279Asp) single nucleotide variant Desbuquois dysplasia 1 [RCV003991994] Chr17:78993920 [GRCh38]
Chr17:76990002 [GRCh37]
Chr17:17q25.3		 likely pathogenic
NM_001159773.2(CANT1):c.616G>T (p.Gly206Cys) single nucleotide variant Inborn genetic diseases [RCV004434827] Chr17:78997007 [GRCh38]
Chr17:76993089 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.283C>G (p.Pro95Ala) single nucleotide variant Inborn genetic diseases [RCV004434824] Chr17:78997340 [GRCh38]
Chr17:76993422 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.607G>A (p.Asp203Asn) single nucleotide variant Inborn genetic diseases [RCV004434826] Chr17:78997016 [GRCh38]
Chr17:76993098 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.340G>A (p.Asp114Asn) single nucleotide variant not specified [RCV004586064] Chr17:78997283 [GRCh38]
Chr17:76993365 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.1186G>A (p.Glu396Lys) single nucleotide variant Desbuquois dysplasia 1 [RCV004566407] Chr17:78993570 [GRCh38]
Chr17:76989652 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.1009G>T (p.Ala337Ser) single nucleotide variant Inborn genetic diseases [RCV004434822] Chr17:78993747 [GRCh38]
Chr17:76989829 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.380G>A (p.Ser127Asn) single nucleotide variant Inborn genetic diseases [RCV004434825] Chr17:78997243 [GRCh38]
Chr17:76993325 [GRCh37]
Chr17:17q25.3		 uncertain significance
NC_000017.10:g.(?_76109229)_(78367298_?)dup duplication Idiopathic generalized epilepsy [RCV004581179] Chr17:76109229..78367298 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.827A>G (p.Gln276Arg) single nucleotide variant Inborn genetic diseases [RCV004607306] Chr17:78995026 [GRCh38]
Chr17:76991108 [GRCh37]
Chr17:17q25.3		 likely benign
NM_001159773.2(CANT1):c.278T>C (p.Leu93Pro) single nucleotide variant Inborn genetic diseases [RCV004600734] Chr17:78997345 [GRCh38]
Chr17:76993427 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.329T>C (p.Ile110Thr) single nucleotide variant Inborn genetic diseases [RCV004600735] Chr17:78997294 [GRCh38]
Chr17:76993376 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.772G>A (p.Asp258Asn) single nucleotide variant Inborn genetic diseases [RCV004600736] Chr17:78995081 [GRCh38]
Chr17:76991163 [GRCh37]
Chr17:17q25.3		 uncertain significance
NM_001159773.2(CANT1):c.467C>T (p.Ser156Phe) single nucleotide variant Desbuquois dysplasia 1 [RCV004766713] Chr17:78997156 [GRCh38]
Chr17:76993238 [GRCh37]
Chr17:17q25.3		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6089
Count of miRNA genes:1123
Interacting mature miRNAs:1427
Transcripts:ENST00000302345, ENST00000392446, ENST00000586916, ENST00000587242, ENST00000588075, ENST00000588096, ENST00000588611, ENST00000590370, ENST00000591625, ENST00000591732, ENST00000591773, ENST00000591811, ENST00000592033, ENST00000592228, ENST00000592887
Prediction methods:Microtar, Miranda, Pita, 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
407040003GWAS688979_Hmagnesium measurement QTL GWAS688979 (human)0.000007magnesium measurementserum magnesium level (CMO:0000541)177899270378992704Human
407015339GWAS664315_Hblood protein measurement QTL GWAS664315 (human)4e-09blood protein measurementblood protein measurement (CMO:0000028)177900856279008563Human
407408769GWAS1057745_Hanxiety QTL GWAS1057745 (human)0.000008anxiety177900311279003113Human

Markers in Region
D17S1806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371777,445,675 - 77,445,787UniSTSGRCh37
Build 361774,957,270 - 74,957,382RGDNCBI36
Celera1774,043,387 - 74,043,519RGD
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17q25.1UniSTS
HuRef1772,868,248 - 72,868,374UniSTS
Marshfield Genetic Map17114.41UniSTS
Marshfield Genetic Map17114.41RGD
Genethon Genetic Map17115.4UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2245 4942 1723 2345 4 622 1947 464 2268 7280 6453 52 3708 847 1731 1612 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001159773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005257022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006721683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054314992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB097006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB097033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC100788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF328554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ312208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC118563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC355691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ578890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ582927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ585977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ595190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000302345   ⟹   ENSP00000307674
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,991,717 - 79,009,817 (-)Ensembl
Ensembl Acc Id: ENST00000392446   ⟹   ENSP00000376241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,991,716 - 79,009,764 (-)Ensembl
Ensembl Acc Id: ENST00000586916   ⟹   ENSP00000467970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,997,440 - 79,009,793 (-)Ensembl
Ensembl Acc Id: ENST00000587242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,998,148 - 79,009,793 (-)Ensembl
Ensembl Acc Id: ENST00000588075   ⟹   ENSP00000465769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,997,393 - 79,009,802 (-)Ensembl
Ensembl Acc Id: ENST00000588096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,993,784 - 78,995,249 (-)Ensembl
Ensembl Acc Id: ENST00000588611   ⟹   ENSP00000465816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,997,106 - 79,009,780 (-)Ensembl
Ensembl Acc Id: ENST00000590370   ⟹   ENSP00000466637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,997,427 - 79,009,764 (-)Ensembl
Ensembl Acc Id: ENST00000591625   ⟹   ENSP00000467777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,997,577 - 79,009,765 (-)Ensembl
Ensembl Acc Id: ENST00000591732
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,998,229 - 79,009,793 (-)Ensembl
Ensembl Acc Id: ENST00000591773   ⟹   ENSP00000467437
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,993,487 - 79,009,778 (-)Ensembl
Ensembl Acc Id: ENST00000591811   ⟹   ENSP00000464841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,997,507 - 79,009,867 (-)Ensembl
Ensembl Acc Id: ENST00000592033   ⟹   ENSP00000467886
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,997,507 - 79,009,793 (-)Ensembl
Ensembl Acc Id: ENST00000592228   ⟹   ENSP00000466743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,991,720 - 79,009,767 (-)Ensembl
Ensembl Acc Id: ENST00000592887
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,997,666 - 79,006,213 (-)Ensembl
Ensembl Acc Id: ENST00000620915   ⟹   ENSP00000477798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1778,991,717 - 78,998,293 (-)Ensembl
RefSeq Acc Id: NM_001159772   ⟹   NP_001153244
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,991,716 - 79,009,764 (-)NCBI
GRCh371776,987,798 - 77,005,899 (-)ENTREZGENE
HuRef1772,408,348 - 72,414,909 (-)ENTREZGENE
CHM1_11777,051,715 - 77,069,816 (-)NCBI
T2T-CHM13v2.01779,886,485 - 79,904,693 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001159773   ⟹   NP_001153245
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,991,716 - 79,009,764 (-)NCBI
GRCh371776,987,798 - 77,005,899 (-)ENTREZGENE
HuRef1772,408,348 - 72,414,909 (-)ENTREZGENE
CHM1_11777,051,715 - 77,069,816 (-)NCBI
T2T-CHM13v2.01779,886,485 - 79,904,693 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138793   ⟹   NP_620148
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,991,716 - 79,009,764 (-)NCBI
GRCh371776,987,798 - 77,005,899 (-)ENTREZGENE
Build 361774,499,394 - 74,517,433 (-)NCBI Archive
HuRef1772,408,348 - 72,414,909 (-)ENTREZGENE
CHM1_11777,051,715 - 77,069,816 (-)NCBI
T2T-CHM13v2.01779,886,485 - 79,904,693 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054314991   ⟹   XP_054170966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01779,886,485 - 79,904,693 (-)NCBI
RefSeq Acc Id: XM_054314992   ⟹   XP_054170967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01779,886,485 - 79,904,693 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001153244 (Get FASTA)   NCBI Sequence Viewer  
  NP_001153245 (Get FASTA)   NCBI Sequence Viewer  
  NP_620148 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170966 (Get FASTA)   NCBI Sequence Viewer  
  XP_054170967 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH05104 (Get FASTA)   NCBI Sequence Viewer  
  AAH17655 (Get FASTA)   NCBI Sequence Viewer  
  AAH65038 (Get FASTA)   NCBI Sequence Viewer  
  AAM94564 (Get FASTA)   NCBI Sequence Viewer  
  BAC11139 (Get FASTA)   NCBI Sequence Viewer  
  BAC77359 (Get FASTA)   NCBI Sequence Viewer  
  BAC77386 (Get FASTA)   NCBI Sequence Viewer  
  BAG58716 (Get FASTA)   NCBI Sequence Viewer  
  CAC85468 (Get FASTA)   NCBI Sequence Viewer  
  CAF86751 (Get FASTA)   NCBI Sequence Viewer  
  EAW89548 (Get FASTA)   NCBI Sequence Viewer  
  EAW89549 (Get FASTA)   NCBI Sequence Viewer  
  EAW89550 (Get FASTA)   NCBI Sequence Viewer  
  EAW89551 (Get FASTA)   NCBI Sequence Viewer  
  EAW89552 (Get FASTA)   NCBI Sequence Viewer  
  EAW89553 (Get FASTA)   NCBI Sequence Viewer  
  EAW89554 (Get FASTA)   NCBI Sequence Viewer  
  EAW89555 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000307674
  ENSP00000307674.2
  ENSP00000376241
  ENSP00000376241.4
  ENSP00000464841.1
  ENSP00000465769.1
  ENSP00000465816.1
  ENSP00000466637.1
  ENSP00000466743.1
  ENSP00000467437
  ENSP00000467437.1
  ENSP00000467777.1
  ENSP00000467886.1
  ENSP00000467970.1
  ENSP00000477798.1
GenBank Protein Q8WVQ1 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001153244   ⟸   NM_001159772
- UniProtKB: Q8NHP0 (UniProtKB/Swiss-Prot),   Q8NG05 (UniProtKB/Swiss-Prot),   Q7Z2J7 (UniProtKB/Swiss-Prot),   B4DJ54 (UniProtKB/Swiss-Prot),   Q9BSD5 (UniProtKB/Swiss-Prot),   Q8WVQ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001153245   ⟸   NM_001159773
- UniProtKB: Q8NHP0 (UniProtKB/Swiss-Prot),   Q8NG05 (UniProtKB/Swiss-Prot),   Q7Z2J7 (UniProtKB/Swiss-Prot),   B4DJ54 (UniProtKB/Swiss-Prot),   Q9BSD5 (UniProtKB/Swiss-Prot),   Q8WVQ1 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_620148   ⟸   NM_138793
- UniProtKB: Q8NHP0 (UniProtKB/Swiss-Prot),   Q8NG05 (UniProtKB/Swiss-Prot),   Q7Z2J7 (UniProtKB/Swiss-Prot),   B4DJ54 (UniProtKB/Swiss-Prot),   Q9BSD5 (UniProtKB/Swiss-Prot),   Q8WVQ1 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000477798   ⟸   ENST00000620915
Ensembl Acc Id: ENSP00000467970   ⟸   ENST00000586916
Ensembl Acc Id: ENSP00000465769   ⟸   ENST00000588075
Ensembl Acc Id: ENSP00000465816   ⟸   ENST00000588611
Ensembl Acc Id: ENSP00000376241   ⟸   ENST00000392446
Ensembl Acc Id: ENSP00000466637   ⟸   ENST00000590370
Ensembl Acc Id: ENSP00000467777   ⟸   ENST00000591625
Ensembl Acc Id: ENSP00000464841   ⟸   ENST00000591811
Ensembl Acc Id: ENSP00000467437   ⟸   ENST00000591773
Ensembl Acc Id: ENSP00000307674   ⟸   ENST00000302345
Ensembl Acc Id: ENSP00000467886   ⟸   ENST00000592033
Ensembl Acc Id: ENSP00000466743   ⟸   ENST00000592228
RefSeq Acc Id: XP_054170967   ⟸   XM_054314992
- Peptide Label: isoform X1
- UniProtKB: Q8WVQ1 (UniProtKB/Swiss-Prot),   Q8NHP0 (UniProtKB/Swiss-Prot),   Q8NG05 (UniProtKB/Swiss-Prot),   Q7Z2J7 (UniProtKB/Swiss-Prot),   B4DJ54 (UniProtKB/Swiss-Prot),   Q9BSD5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054170966   ⟸   XM_054314991
- Peptide Label: isoform X1
- UniProtKB: Q8WVQ1 (UniProtKB/Swiss-Prot),   Q8NHP0 (UniProtKB/Swiss-Prot),   Q8NG05 (UniProtKB/Swiss-Prot),   Q7Z2J7 (UniProtKB/Swiss-Prot),   B4DJ54 (UniProtKB/Swiss-Prot),   Q9BSD5 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8WVQ1-F1-model_v2 AlphaFold Q8WVQ1 1-401 view protein structure

Promoters
RGD ID:6794044
Promoter ID:HG_KWN:27288
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000339300,   NM_001159772,   NM_001159773,   NM_138793,   UC002JWL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361774,517,244 - 74,517,744 (-)MPROMDB
RGD ID:7236533
Promoter ID:EPDNEW_H24012
Type:initiation region
Name:CANT1_1
Description:calcium activated nucleotidase 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
GRCh381779,009,764 - 79,009,824EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19721 AgrOrtholog
COSMIC CANT1 COSMIC
Ensembl Genes ENSG00000171302 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000302345 ENTREZGENE
  ENST00000302345.6 UniProtKB/Swiss-Prot
  ENST00000392446 ENTREZGENE
  ENST00000392446.10 UniProtKB/Swiss-Prot
  ENST00000586916.6 UniProtKB/TrEMBL
  ENST00000588075.5 UniProtKB/TrEMBL
  ENST00000588611.5 UniProtKB/TrEMBL
  ENST00000590370.5 UniProtKB/TrEMBL
  ENST00000591625.5 UniProtKB/TrEMBL
  ENST00000591773 ENTREZGENE
  ENST00000591773.5 UniProtKB/Swiss-Prot
  ENST00000591811.1 UniProtKB/TrEMBL
  ENST00000592033.5 UniProtKB/TrEMBL
  ENST00000592228.1 UniProtKB/TrEMBL
  ENST00000620915.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.120.10.100 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171302 GTEx
HGNC ID HGNC:19721 ENTREZGENE
Human Proteome Map CANT1 Human Proteome Map
InterPro Apyrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Apyrase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:124583 UniProtKB/Swiss-Prot
NCBI Gene 124583 ENTREZGENE
OMIM 613165 OMIM
PANTHER PTHR13023 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SOLUBLE CALCIUM-ACTIVATED NUCLEOTIDASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Apyrase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134984439 PharmGKB
Superfamily-SCOP SSF101887 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B4DJ54 ENTREZGENE
  CANT1_HUMAN UniProtKB/Swiss-Prot
  K7EIP9_HUMAN UniProtKB/TrEMBL
  K7EKT2_HUMAN UniProtKB/TrEMBL
  K7EKW6_HUMAN UniProtKB/TrEMBL
  K7EMT2_HUMAN UniProtKB/TrEMBL
  K7EN15_HUMAN UniProtKB/TrEMBL
  K7EQD4_HUMAN UniProtKB/TrEMBL
  K7EQT4_HUMAN UniProtKB/TrEMBL
  Q7Z2J7 ENTREZGENE
  Q8NG05 ENTREZGENE
  Q8NHP0 ENTREZGENE
  Q8WVQ1 ENTREZGENE
  Q9BSD5 ENTREZGENE
UniProt Secondary B4DJ54 UniProtKB/Swiss-Prot
  Q7Z2J7 UniProtKB/Swiss-Prot
  Q8NG05 UniProtKB/Swiss-Prot
  Q8NHP0 UniProtKB/Swiss-Prot
  Q9BSD5 UniProtKB/Swiss-Prot