CHSY1 (chondroitin sulfate synthase 1) - Rat Genome Database

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Gene: CHSY1 (chondroitin sulfate synthase 1) Homo sapiens
Analyze
Symbol: CHSY1
Name: chondroitin sulfate synthase 1
RGD ID: 1323606
HGNC Page HGNC:17198
Description: Enables N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity and glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity. Involved in negative regulation of ossification. Located in extracellular region. Implicated in temtamy preaxial brachydactyly syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: carbohydrate synthase 1; chondroitin glucuronyltransferase 1; chondroitin glucuronyltransferase II; chondroitin synthase 1; CHSY; ChSy-1; CSS1; DKFZp434M032; FLJ58581; glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1; KIAA0990; N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase 1; N-acetylgalactosaminyltransferase 1; N-acetylgalactosaminyltransferase II; TPBS
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3815101,175,727 - 101,252,048 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl15101,175,727 - 101,252,048 (-)EnsemblGRCh38hg38GRCh38
GRCh3715101,715,932 - 101,792,253 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361599,533,455 - 99,609,649 (-)NCBINCBI36Build 36hg18NCBI36
Build 341599,533,455 - 99,609,649NCBI
Celera1578,129,035 - 78,204,977 (-)NCBICelera
Cytogenetic Map15q26.3NCBI
HuRef1577,838,413 - 77,914,374 (-)NCBIHuRef
CHM1_115101,556,975 - 101,633,122 (-)NCBICHM1_1
T2T-CHM13v2.01598,930,755 - 99,007,076 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
3',5'-cyclic AMP  (ISO)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-naphthoflavone  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
chloropicrin  (EXP)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
Dibutyl phosphate  (EXP)
dioxygen  (EXP)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
genistein  (EXP)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
methimazole  (ISO)
N-nitrosodimethylamine  (ISO)
nickel dichloride  (ISO)
nickel subsulfide  (ISO)
okadaic acid  (EXP)
panobinostat  (EXP)
paracetamol  (EXP)
phenobarbital  (ISO)
pirinixic acid  (EXP)
poly(I:C)  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
sodium arsenite  (ISO)
Soman  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
Thrombin  (EXP)
titanium dioxide  (ISO)
triadimefon  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP,ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Human Phenotype
Abnormal digit morphology  (IAGP)
Abnormal facial shape  (IAGP)
Abnormal lens morphology  (IAGP)
Abnormal optic disc morphology  (IAGP)
Abnormal spaced incisors  (IAGP)
Abnormality of canine  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormally large globe  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Blue sclerae  (IAGP)
Brachydactyly  (IAGP)
Carpal synostosis  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Clinodactyly of the 2nd finger  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Complete duplication of proximal phalanx of the thumb  (IAGP)
Complete duplication of the middle phalanx of the 3rd finger  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Deep philtrum  (IAGP)
Diastema  (IAGP)
Duplication of thumb phalanx  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hearing impairment  (IAGP)
Highly arched eyebrow  (IAGP)
Hitchhiker thumb  (IAGP)
Hypertelorism  (IAGP)
Hypodontia  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Intellectual disability  (IAGP)
Low-set ears  (IAGP)
Microdontia  (IAGP)
Micrognathia  (IAGP)
Narrow mouth  (IAGP)
Oligodontia  (IAGP)
Optic atrophy  (IAGP)
Partial duplication of the proximal phalanx of the 3rd finger  (IAGP)
Partial duplication of thumb phalanx  (IAGP)
Plagiocephaly  (IAGP)
Poor speech  (IAGP)
Proximal radio-ulnar synostosis  (IAGP)
Proximal symphalangism of hands  (IAGP)
Radial deviation of finger  (IAGP)
Radioulnar synostosis  (IAGP)
Round face  (IAGP)
Schizophrenia  (IAGP)
Severe sensorineural hearing impairment  (IAGP)
Short foot  (IAGP)
Short hallux  (IAGP)
Short metacarpal  (IAGP)
Short metatarsal  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short stature  (IAGP)
Specific learning disability  (IAGP)
Syndactyly  (IAGP)
Synophrys  (IAGP)
Synostosis of carpals/tarsals  (IAGP)
Talon cusp  (IAGP)
Tarsal synostosis  (IAGP)
Tibial deviation of the 2nd toe  (IAGP)
Tibial deviation of the 5th toe  (IAGP)
Tooth malposition  (IAGP)
Widely-spaced maxillary central incisors  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:10231032   PMID:11514575   PMID:12477932   PMID:12716890   PMID:12907687   PMID:12975309   PMID:15489334   PMID:16303743   PMID:19322201   PMID:19946888   PMID:21129727   PMID:21129728  
PMID:21468578   PMID:21873635   PMID:23291589   PMID:23322567   PMID:23811343   PMID:24068947   PMID:24269551   PMID:25609649   PMID:26186194   PMID:26496610   PMID:26997434   PMID:28514442  
PMID:28652022   PMID:29507755   PMID:31073040   PMID:31623628   PMID:32924931   PMID:33961781   PMID:34186245   PMID:34412565   PMID:34716872   PMID:35696571   PMID:35748872  


Genomics

Comparative Map Data
CHSY1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3815101,175,727 - 101,252,048 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl15101,175,727 - 101,252,048 (-)EnsemblGRCh38hg38GRCh38
GRCh3715101,715,932 - 101,792,253 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361599,533,455 - 99,609,649 (-)NCBINCBI36Build 36hg18NCBI36
Build 341599,533,455 - 99,609,649NCBI
Celera1578,129,035 - 78,204,977 (-)NCBICelera
Cytogenetic Map15q26.3NCBI
HuRef1577,838,413 - 77,914,374 (-)NCBIHuRef
CHM1_115101,556,975 - 101,633,122 (-)NCBICHM1_1
T2T-CHM13v2.01598,930,755 - 99,007,076 (-)NCBIT2T-CHM13v2.0
Chsy1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39765,759,240 - 65,823,546 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl765,759,263 - 65,823,546 (+)EnsemblGRCm39 Ensembl
GRCm38766,109,492 - 66,173,798 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl766,109,515 - 66,173,798 (+)EnsemblGRCm38mm10GRCm38
MGSCv37773,254,401 - 73,318,684 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36765,988,465 - 66,052,748 (+)NCBIMGSCv36mm8
Celera763,545,296 - 63,619,383 (+)NCBICelera
Cytogenetic Map7CNCBI
Chsy1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81129,100,088 - 129,161,167 (+)NCBIGRCr8
mRatBN7.21119,689,626 - 119,750,711 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1119,686,350 - 119,750,601 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1127,682,577 - 127,743,312 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01134,854,019 - 134,914,754 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01127,663,508 - 127,724,487 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01127,010,587 - 127,071,570 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1127,010,588 - 127,071,570 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01128,095,353 - 128,156,041 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41120,539,002 - 120,600,102 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11120,616,912 - 120,677,080 (+)NCBI
Celera1111,901,152 - 111,961,962 (+)NCBICelera
Cytogenetic Map1q22NCBI
Chsy1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541628,070,710 - 28,135,590 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541628,070,981 - 28,136,848 (-)NCBIChiLan1.0ChiLan1.0
CHSY1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21690,765,804 - 90,841,828 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11594,466,529 - 94,543,052 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01579,901,340 - 79,976,067 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11599,186,705 - 99,259,882 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1599,186,705 - 99,260,591 (-)Ensemblpanpan1.1panPan2
CHSY1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1339,844,227 - 39,916,484 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl339,844,195 - 40,021,573 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha342,532,031 - 42,605,585 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0340,234,309 - 40,307,861 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl340,235,605 - 40,306,490 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1339,767,324 - 39,840,760 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0340,004,150 - 40,077,669 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0340,207,051 - 40,279,606 (+)NCBIUU_Cfam_GSD_1.0
Chsy1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640143,648,412 - 143,720,663 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364832,613,820 - 2,686,276 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364832,613,820 - 2,685,986 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CHSY1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1139,730,721 - 139,804,657 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11139,730,703 - 139,804,458 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21155,960,054 - 156,033,821 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CHSY1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12919,633,335 - 19,707,547 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2919,632,026 - 19,707,425 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605926,833,395 - 26,907,460 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Chsy1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247683,567,770 - 3,628,360 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CHSY1
256 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014918.5(CHSY1):c.55_84del (p.Gly19_Leu28del) deletion Temtamy preaxial brachydactyly syndrome [RCV000023688] Chr15:101251373..101251402 [GRCh38]
Chr15:101791578..101791607 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_014918.5(CHSY1):c.14del (p.Gly5fs) deletion Temtamy preaxial brachydactyly syndrome [RCV000023689] Chr15:101251443 [GRCh38]
Chr15:101791648 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_014918.5(CHSY1):c.205C>T (p.Gln69Ter) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000023690] Chr15:101251252 [GRCh38]
Chr15:101791457 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_014918.5(CHSY1):c.321-3C>G single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000023691] Chr15:101235580 [GRCh38]
Chr15:101775785 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_014918.5(CHSY1):c.1616C>G (p.Pro539Arg) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000023692] Chr15:101178181 [GRCh38]
Chr15:101718386 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_014918.5(CHSY1):c.96del (p.Glu33fs) deletion Temtamy preaxial brachydactyly syndrome [RCV000023693] Chr15:101251361 [GRCh38]
Chr15:101791566 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_014918.5(CHSY1):c.21C>T (p.Arg7=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001082707]|not provided [RCV000729771] Chr15:101251436 [GRCh38]
Chr15:101791641 [GRCh37]
Chr15:15q26.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014918.5(CHSY1):c.730C>A (p.Arg244=) single nucleotide variant not provided [RCV000729882] Chr15:101235168 [GRCh38]
Chr15:101775373 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1772G>A (p.Arg591His) single nucleotide variant Inborn genetic diseases [RCV002536435]|Temtamy preaxial brachydactyly syndrome [RCV001868948]|not provided [RCV000729884] Chr15:101178025 [GRCh38]
Chr15:101718230 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3 copy number gain See cases [RCV000050851] Chr15:94033008..101843270 [GRCh38]
Chr15:94576237..102383473 [GRCh37]
Chr15:92377241..100200996 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3 copy number gain See cases [RCV000052354] Chr15:89679237..101978958 [GRCh38]
Chr15:90222468..102519161 [GRCh37]
Chr15:88023472..100336684 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]|See cases [RCV000052346] Chr15:75307767..101723215 [GRCh38]
Chr15:75600108..102263418 [GRCh37]
Chr15:73387161..100080941 [NCBI36]
Chr15:15q24.2-26.3		 pathogenic
GRCh38/hg38 15q24.3-26.3(chr15:77543797-101843411)x3 copy number gain See cases [RCV000052347] Chr15:77543797..101843411 [GRCh38]
Chr15:77836139..102383614 [GRCh37]
Chr15:75623194..100201137 [NCBI36]
Chr15:15q24.3-26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3 copy number gain See cases [RCV000052352] Chr15:84169153..101904929 [GRCh38]
Chr15:84837905..102445132 [GRCh37]
Chr15:82628909..100262655 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1 copy number loss See cases [RCV000053228] Chr15:96069425..101849578 [GRCh38]
Chr15:96612654..102389781 [GRCh37]
Chr15:94413658..100207304 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1 copy number loss See cases [RCV000053244] Chr15:96329791..101849578 [GRCh38]
Chr15:96873020..102389781 [GRCh37]
Chr15:94674024..100207304 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:96913979-101843411)x1 copy number loss See cases [RCV000053245] Chr15:96913979..101843411 [GRCh38]
Chr15:97457209..102383614 [GRCh37]
Chr15:95258213..100201137 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1 copy number loss See cases [RCV000053246] Chr15:97735430..101810992 [GRCh38]
Chr15:98278660..102351195 [GRCh37]
Chr15:96079664..100168718 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1 copy number loss See cases [RCV000053247] Chr15:98845807..101843270 [GRCh38]
Chr15:99389036..102383473 [GRCh37]
Chr15:97206559..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:98926805-101843270)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053248]|See cases [RCV000053248] Chr15:98926805..101843270 [GRCh38]
Chr15:99470034..102383473 [GRCh37]
Chr15:97287557..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:100126374-101843270)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053249]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053249]|See cases [RCV000053249] Chr15:100126374..101843270 [GRCh38]
Chr15:100666579..102383473 [GRCh37]
Chr15:98484102..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1 copy number loss See cases [RCV000053250] Chr15:100222791..101843270 [GRCh38]
Chr15:100762996..102383473 [GRCh37]
Chr15:98580519..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup) duplication Temtamy preaxial brachydactyly syndrome [RCV000662045] Chr15:101251266..101251267 [GRCh38]
Chr15:101791471..101791472 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.731G>A (p.Arg244Gln) single nucleotide variant not provided [RCV000122539] Chr15:101235167 [GRCh38]
Chr15:101775372 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.39G>A (p.Leu13=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001080621]|not provided [RCV000173442] Chr15:101251418 [GRCh38]
Chr15:101791623 [GRCh37]
Chr15:15q26.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1 copy number loss See cases [RCV000133733] Chr15:93198717..101843270 [GRCh38]
Chr15:93741946..102383473 [GRCh37]
Chr15:91542950..100200996 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:101240570-101468912)x3 copy number gain See cases [RCV000134435] Chr15:101240570..101468912 [GRCh38]
Chr15:101780775..102009117 [GRCh37]
Chr15:99598298..99826640 [NCBI36]
Chr15:15q26.3		 benign
GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1 copy number loss See cases [RCV000135397] Chr15:97014065..101843270 [GRCh38]
Chr15:97557295..102383473 [GRCh37]
Chr15:95358299..100200996 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1 copy number loss See cases [RCV000134969] Chr15:99155987..101843270 [GRCh38]
Chr15:99696192..102383473 [GRCh37]
Chr15:97513715..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3 copy number gain See cases [RCV000135858] Chr15:83711377..101843270 [GRCh38]
Chr15:84380129..102383473 [GRCh37]
Chr15:82171133..100200996 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3 copy number gain See cases [RCV000135568] Chr15:87904735..101843270 [GRCh38]
Chr15:88447966..102383473 [GRCh37]
Chr15:86248970..100200996 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:101170474-101474188)x3 copy number gain See cases [RCV000136485] Chr15:101170474..101474188 [GRCh38]
Chr15:101710679..102014393 [GRCh37]
Chr15:99528202..99831916 [NCBI36]
Chr15:15q26.3		 benign
GRCh38/hg38 15q26.3(chr15:100194660-101373649)x3 copy number gain See cases [RCV000135930] Chr15:100194660..101373649 [GRCh38]
Chr15:100734865..101913854 [GRCh37]
Chr15:98552388..99731377 [NCBI36]
Chr15:15q26.3		 pathogenic|uncertain significance
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 copy number gain See cases [RCV000136849] Chr15:82859676..101810992 [GRCh38]
Chr15:83528428..102351195 [GRCh37]
Chr15:81325482..100168718 [NCBI36]
Chr15:15q25.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1 copy number loss See cases [RCV000136864] Chr15:95770627..101810992 [GRCh38]
Chr15:96313856..102351195 [GRCh37]
Chr15:94114860..100168718 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4 copy number gain See cases [RCV000137264] Chr15:85826665..101920998 [GRCh38]
Chr15:86369896..102461201 [GRCh37]
Chr15:84170900..100278724 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1 copy number loss See cases [RCV000139666] Chr15:97941427..101797926 [GRCh38]
Chr15:98484657..102338129 [GRCh37]
Chr15:96285661..100155652 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1 copy number loss See cases [RCV000141263] Chr15:97172754..101920998 [GRCh38]
Chr15:97715984..102461201 [GRCh37]
Chr15:95516988..100278724 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3 copy number gain See cases [RCV000141431] Chr15:93041524..101941326 [GRCh38]
Chr15:93584754..102481529 [GRCh37]
Chr15:91385758..100299052 [NCBI36]
Chr15:15q26.1-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3 copy number gain See cases [RCV000140658] Chr15:97283711..101920998 [GRCh38]
Chr15:97826941..102461201 [GRCh37]
Chr15:95627945..100278724 [NCBI36]
Chr15:15q26.2-26.3		 likely pathogenic
GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3 copy number gain See cases [RCV000141899] Chr15:85397539..101888909 [GRCh38]
Chr15:85940770..102429112 [GRCh37]
Chr15:83741774..100246635 [NCBI36]
Chr15:15q25.3-26.3		 pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:101045648-101457911)x3 copy number gain See cases [RCV000143074] Chr15:101045648..101457911 [GRCh38]
Chr15:101585853..101998116 [GRCh37]
Chr15:99403376..99815639 [NCBI36]
Chr15:15q26.3		 likely benign
GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1 copy number loss See cases [RCV000143088] Chr15:96024127..101920998 [GRCh38]
Chr15:96567356..102461201 [GRCh37]
Chr15:94368360..100278724 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3 copy number gain See cases [RCV000142579] Chr15:99338283..101843270 [GRCh38]
Chr15:99878488..102383473 [GRCh37]
Chr15:97696011..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1 copy number loss See cases [RCV000142728] Chr15:98467297..101843270 [GRCh38]
Chr15:99010526..102383473 [GRCh37]
Chr15:96828049..100200996 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1 copy number loss See cases [RCV000143176] Chr15:97681713..101920998 [GRCh38]
Chr15:98224943..102461201 [GRCh37]
Chr15:96025947..100278724 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1 copy number loss See cases [RCV000143687] Chr15:93805032..101326876 [GRCh38]
Chr15:94348261..101867081 [GRCh37]
Chr15:92149265..99684604 [NCBI36]
Chr15:15q26.2-26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3 copy number gain See cases [RCV000143526] Chr15:98280297..101888909 [GRCh38]
Chr15:98823526..102429112 [GRCh37]
Chr15:96641049..100246635 [NCBI36]
Chr15:15q26.3		 pathogenic
GRCh38/hg38 15q26.3(chr15:101138520-101293161)x1 copy number loss Premature ovarian failure [RCV000225152] Chr15:101138520..101293161 [GRCh38]
Chr15:101678725..101833366 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3 copy number gain See cases [RCV000511332] Chr15:76061144..102429112 [GRCh37]
Chr15:15q24.2-26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1 copy number loss See cases [RCV000239905] Chr15:98458265..102354857 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000546831]|not provided [RCV000991804] Chr15:101178324 [GRCh38]
Chr15:101718529 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q26.3(chr15:101645331-102263418)x3 copy number gain See cases [RCV000239911] Chr15:101645331..102263418 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1 copy number loss See cases [RCV000240535] Chr15:92197136..102354857 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000642106]|not provided [RCV001552542]|not specified [RCV000338568] Chr15:101178579 [GRCh38]
Chr15:101718784 [GRCh37]
Chr15:15q26.3		 benign|likely benign
NM_014918.5(CHSY1):c.320+9C>T single nucleotide variant not provided [RCV000382677] Chr15:101251128 [GRCh38]
Chr15:101791333 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.666G>A (p.Gly222=) single nucleotide variant CHSY1-related disorder [RCV003930064]|Temtamy preaxial brachydactyly syndrome [RCV000888184]|not provided [RCV004705136]|not specified [RCV000347641] Chr15:101235232 [GRCh38]
Chr15:101775437 [GRCh37]
Chr15:15q26.3		 benign|likely benign
NM_014918.5(CHSY1):c.1307A>G (p.Tyr436Cys) single nucleotide variant not provided [RCV000282175] Chr15:101178490 [GRCh38]
Chr15:101718695 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000968999]|not provided [RCV003391034]|not specified [RCV000388383] Chr15:101177709 [GRCh38]
Chr15:101717914 [GRCh37]
Chr15:15q26.3		 benign|likely benign
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) single nucleotide variant CHSY1-related disorder [RCV003939939]|Temtamy preaxial brachydactyly syndrome [RCV001087588]|not provided [RCV001564172]|not specified [RCV000323270] Chr15:101178472 [GRCh38]
Chr15:101718677 [GRCh37]
Chr15:15q26.3		 benign|likely benign
NM_014918.5(CHSY1):c.986A>G (p.His329Arg) single nucleotide variant Inborn genetic diseases [RCV002521971]|Temtamy preaxial brachydactyly syndrome [RCV001855188]|not provided [RCV000392848] Chr15:101178811 [GRCh38]
Chr15:101719016 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1602A>T (p.Ile534=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001078808]|not provided [RCV000328578] Chr15:101178195 [GRCh38]
Chr15:101718400 [GRCh37]
Chr15:15q26.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014918.5(CHSY1):c.1423C>T (p.Gln475Ter) single nucleotide variant Inborn genetic diseases [RCV000623854] Chr15:101178374 [GRCh38]
Chr15:101718579 [GRCh37]
Chr15:15q26.3		 pathogenic|uncertain significance
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000534221]|not provided [RCV000991802]|not specified [RCV001702505] Chr15:101178745 [GRCh38]
Chr15:101718950 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
NM_014918.5(CHSY1):c.22G>C (p.Ala8Pro) single nucleotide variant not provided [RCV000730044] Chr15:101251435 [GRCh38]
Chr15:101791640 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.489G>A (p.Lys163=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001084917]|not provided [RCV000733947] Chr15:101235409 [GRCh38]
Chr15:101775614 [GRCh37]
Chr15:15q26.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014918.5(CHSY1):c.1812G>A (p.Val604=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000559109]|not provided [RCV000991805] Chr15:101177985 [GRCh38]
Chr15:101718190 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q25.2-26.3(chr15:85089467-102495441)x3 copy number gain See cases [RCV000449119] Chr15:85089467..102495441 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:90346994-102354798) copy number loss See cases [RCV000447603] Chr15:90346994..102354798 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:95238218-102429112)x1 copy number loss See cases [RCV000446457] Chr15:95238218..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:101387472-101720748)x3 copy number gain See cases [RCV000445972] Chr15:101387472..101720748 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:89924847-102429112)x3 copy number gain See cases [RCV000445978] Chr15:89924847..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:94782891-102429112)x1 copy number loss See cases [RCV000445764] Chr15:94782891..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q25.1-26.3(chr15:80648093-102429112)x3 copy number gain See cases [RCV000445705] Chr15:80648093..102429112 [GRCh37]
Chr15:15q25.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:86148286-102511616)x3 copy number gain See cases [RCV000448044] Chr15:86148286..102511616 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
NC_000015.9:g.(?_100885379)_(102399948_?)dup duplication Schizophrenia [RCV000416623] Chr15:100885379..102399948 [GRCh37]
Chr15:98702902..100217471 [NCBI36]
Chr15:15q26.3		 likely pathogenic
GRCh37/hg19 15q26.3(chr15:98818228-102399760) copy number loss See cases [RCV000447813] Chr15:98818228..102399760 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112)x1 copy number loss See cases [RCV000448857] Chr15:97223728..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:95136822-102045577)x1 copy number loss See cases [RCV000512141] Chr15:95136822..102045577 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:101124214-102429112)x1 copy number loss See cases [RCV000510246] Chr15:101124214..102429112 [GRCh37]
Chr15:15q26.3		 likely benign
GRCh37/hg19 15q26.2-26.3(chr15:96913435-102429112)x1 copy number loss See cases [RCV000510663] Chr15:96913435..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:101569237-102344434)x3 copy number gain See cases [RCV000511628] Chr15:101569237..102344434 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:93148806-102429112)x3 copy number gain See cases [RCV000511719] Chr15:93148806..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:100564922-102399548)x1 copy number loss See cases [RCV000511119] Chr15:100564922..102399548 [GRCh37]
Chr15:15q26.3		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001080855]|not provided [RCV000642105] Chr15:101235565 [GRCh38]
Chr15:101775770 [GRCh37]
Chr15:15q26.3		 benign|likely benign
NM_014918.5(CHSY1):c.1896C>T (p.Val632=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000535310]|not provided [RCV000991806] Chr15:101177901 [GRCh38]
Chr15:101718106 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.1006C>T (p.Arg336Cys) single nucleotide variant Inborn genetic diseases [RCV000622810]|Temtamy preaxial brachydactyly syndrome [RCV000702135]|not provided [RCV001288917] Chr15:101178791 [GRCh38]
Chr15:101718996 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:98220018-102429112)x1 copy number loss See cases [RCV000512353] Chr15:98220018..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:101238481-102429112)x1 copy number loss See cases [RCV000512205] Chr15:101238481..102429112 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.3(chr15:98737093-102429112)x1 copy number loss See cases [RCV000512437] Chr15:98737093..102429112 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:100526020-102429112)x1 copy number loss not provided [RCV000683730] Chr15:100526020..102429112 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:89743929-102429112)x3 copy number gain not provided [RCV000683718] Chr15:89743929..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:99928623-102429112)x3 copy number gain not provided [RCV000683726] Chr15:99928623..102429112 [GRCh37]
Chr15:15q26.3		 likely pathogenic
GRCh37/hg19 15q26.3(chr15:101595256-101899130)x3 copy number gain not provided [RCV000683735] Chr15:101595256..101899130 [GRCh37]
Chr15:15q26.3		 likely benign
GRCh37/hg19 15q26.3(chr15:101734079-102429112)x3 copy number gain not provided [RCV000683736] Chr15:101734079..102429112 [GRCh37]
Chr15:15q26.3		 likely benign|uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3 copy number gain not provided [RCV000683710] Chr15:77479244..102429112 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_014918.5(CHSY1):c.303G>C (p.Arg101=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001516363]|not provided [RCV000711207] Chr15:101251154 [GRCh38]
Chr15:101791359 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.57C>T (p.Gly19=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001516364]|not provided [RCV000711208] Chr15:101251400 [GRCh38]
Chr15:101791605 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q25.3-26.3(chr15:88385150-102461162)x3 copy number gain not provided [RCV000738864] Chr15:88385150..102461162 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:101790381-101792421)x1 copy number loss not provided [RCV000738899] Chr15:101790381..101792421 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q26.3(chr15:101790381-101792538)x1 copy number loss not provided [RCV000738900] Chr15:101790381..101792538 [GRCh37]
Chr15:15q26.3		 benign
GRCh37/hg19 15q26.3(chr15:101791262-101792538)x1 copy number loss not provided [RCV000738901] Chr15:101791262..101792538 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.779G>A (p.Arg260Gln) single nucleotide variant Hearing impairment [RCV000754563] Chr15:101235119 [GRCh38]
Chr15:101775324 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:90277151-102376761)x3 copy number gain not provided [RCV000751387] Chr15:90277151..102376761 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_014918.5(CHSY1):c.816+151del deletion not provided [RCV001669282] Chr15:101234931 [GRCh38]
Chr15:101775136 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.-70C>T single nucleotide variant not provided [RCV001648227] Chr15:101251526 [GRCh38]
Chr15:101791731 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.817-172A>G single nucleotide variant not provided [RCV001570800] Chr15:101179152 [GRCh38]
Chr15:101719357 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.423C>T (p.Asp141=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000966243]|not provided [RCV001556454] Chr15:101235475 [GRCh38]
Chr15:101775680 [GRCh37]
Chr15:15q26.3		 benign|likely benign
NM_014918.5(CHSY1):c.114C>T (p.Gly38=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000966340]|not provided [RCV001585891] Chr15:101251343 [GRCh38]
Chr15:101791548 [GRCh37]
Chr15:15q26.3		 benign|likely benign
NM_014918.5(CHSY1):c.1518T>C (p.Phe506=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000969380]|not provided [RCV001571049] Chr15:101178279 [GRCh38]
Chr15:101718484 [GRCh37]
Chr15:15q26.3		 benign|likely benign
NM_014918.5(CHSY1):c.42C>T (p.Leu14=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005092794] Chr15:101251415 [GRCh38]
Chr15:101791620 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.246C>A (p.Arg82=) single nucleotide variant not provided [RCV000923614] Chr15:101251211 [GRCh38]
Chr15:101791416 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.135C>T (p.Pro45=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002539414] Chr15:101251322 [GRCh38]
Chr15:101791527 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1176C>T (p.Pro392=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001523433]|not provided [RCV000900032] Chr15:101178621 [GRCh38]
Chr15:101718826 [GRCh37]
Chr15:15q26.3		 benign|likely benign
NM_014918.5(CHSY1):c.1566G>A (p.Ser522=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000969000]|not provided [RCV002285431] Chr15:101178231 [GRCh38]
Chr15:101718436 [GRCh37]
Chr15:15q26.3		 benign|likely benign
GRCh37/hg19 15q26.2-26.3(chr15:96873212-102389423) copy number loss not provided [RCV000767761] Chr15:96873212..102389423 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
NM_014918.5(CHSY1):c.1555C>A (p.Leu519Ile) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000964349] Chr15:101178242 [GRCh38]
Chr15:101718447 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001516360]|not provided [RCV000831272] Chr15:101177475 [GRCh38]
Chr15:101717680 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.1905G>C (p.Val635=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001516361]|not provided [RCV000831369] Chr15:101177892 [GRCh38]
Chr15:101718097 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.730C>T (p.Arg244Trp) single nucleotide variant Inborn genetic diseases [RCV002537119]|Temtamy preaxial brachydactyly syndrome [RCV000800256] Chr15:101235168 [GRCh38]
Chr15:101775373 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1111G>A (p.Glu371Lys) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000793536] Chr15:101178686 [GRCh38]
Chr15:101718891 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001511639]|not provided [RCV000991803] Chr15:101178495 [GRCh38]
Chr15:101718700 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.2159A>T (p.Asp720Val) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV004761928]|not provided [RCV001090945] Chr15:101177638 [GRCh38]
Chr15:101717843 [GRCh37]
Chr15:15q26.3		 likely pathogenic|uncertain significance
NM_014918.5(CHSY1):c.1893C>T (p.Asp631=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001498913] Chr15:101177904 [GRCh38]
Chr15:101718109 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1312C>T (p.Arg438Trp) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000800614] Chr15:101178485 [GRCh38]
Chr15:101718690 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.535G>T (p.Asp179Tyr) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000800921] Chr15:101235363 [GRCh38]
Chr15:101775568 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3 copy number gain not provided [RCV000846885] Chr15:90288175..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:101696490-102311245)x3 copy number gain not provided [RCV000848225] Chr15:101696490..102311245 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.3(chr15:101781933-102133671)x3 copy number gain not provided [RCV000849379] Chr15:101781933..102133671 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.3(chr15:98686212-102429112)x1 copy number loss not provided [RCV001006729] Chr15:98686212..102429112 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_014918.5(CHSY1):c.479A>T (p.Tyr160Phe) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001241442]|not provided [RCV004692297] Chr15:101235419 [GRCh38]
Chr15:101775624 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2320A>G (p.Thr774Ala) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001241511] Chr15:101177477 [GRCh38]
Chr15:101717682 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.209T>G (p.Leu70Arg) single nucleotide variant Inborn genetic diseases [RCV003163705]|Temtamy preaxial brachydactyly syndrome [RCV001221669] Chr15:101251248 [GRCh38]
Chr15:101791453 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:96878099-102397836)x1 copy number loss Chromosome 15q26-qter deletion syndrome [RCV000993689] Chr15:96878099..102397836 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1 copy number loss not provided [RCV001006718] Chr15:87189245..102429112 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
NM_014918.5(CHSY1):c.320+204C>A single nucleotide variant not provided [RCV001678562] Chr15:101250933 [GRCh38]
Chr15:101791138 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.321-138G>A single nucleotide variant not provided [RCV001535054] Chr15:101235715 [GRCh38]
Chr15:101775920 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.321-123G>A single nucleotide variant not provided [RCV001710100] Chr15:101235700 [GRCh38]
Chr15:101775905 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.320+196G>A single nucleotide variant not provided [RCV001569724] Chr15:101250941 [GRCh38]
Chr15:101791146 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.320+80G>T single nucleotide variant not provided [RCV001639711] Chr15:101251057 [GRCh38]
Chr15:101791262 [GRCh37]
Chr15:15q26.3		 benign
NC_000015.10:g.101252092del deletion not provided [RCV001669182] Chr15:101252080 [GRCh38]
Chr15:101792285 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.817-195C>G single nucleotide variant not provided [RCV001710582] Chr15:101179175 [GRCh38]
Chr15:101719380 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.261C>T (p.Leu87=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002540063]|not provided [RCV003392675] Chr15:101251196 [GRCh38]
Chr15:101791401 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1701C>T (p.Leu567=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001514317] Chr15:101178096 [GRCh38]
Chr15:101718301 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.2040C>G (p.Ala680=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001396666] Chr15:101177757 [GRCh38]
Chr15:101717962 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.534A>G (p.Gly178=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000960958]|not provided [RCV001720269]|not specified [RCV001288918] Chr15:101235364 [GRCh38]
Chr15:101775569 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.612G>A (p.Thr204=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001393534] Chr15:101235286 [GRCh38]
Chr15:101775491 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1725C>T (p.Asp575=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV000970722] Chr15:101178072 [GRCh38]
Chr15:101718277 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.1008C>T (p.Arg336=) single nucleotide variant CHSY1-related disorder [RCV003895495]|not provided [RCV000902260] Chr15:101178789 [GRCh38]
Chr15:101718994 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu) single nucleotide variant CHSY1-related disorder [RCV004757383]|Inborn genetic diseases [RCV002562465]|Temtamy preaxial brachydactyly syndrome [RCV001218970] Chr15:101178197 [GRCh38]
Chr15:101718402 [GRCh37]
Chr15:15q26.3		 uncertain significance
NC_000015.10:g.101252105G>T single nucleotide variant not provided [RCV001586893] Chr15:101252105 [GRCh38]
Chr15:101792310 [GRCh37]
Chr15:15q26.3		 likely benign
NC_000015.10:g.101252091_101252092dup duplication not provided [RCV001688799] Chr15:101252079..101252080 [GRCh38]
Chr15:101792284..101792285 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.971T>C (p.Ile324Thr) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002550631]|not provided [RCV000991807] Chr15:101178826 [GRCh38]
Chr15:101719031 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2294G>C (p.Gly765Ala) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003525417]|not provided [RCV003480152] Chr15:101177503 [GRCh38]
Chr15:101717708 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.321-268C>T single nucleotide variant not provided [RCV001594220] Chr15:101235845 [GRCh38]
Chr15:101776050 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.320+130G>T single nucleotide variant not provided [RCV001676456] Chr15:101251007 [GRCh38]
Chr15:101791212 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.816+261C>G single nucleotide variant not provided [RCV001719632] Chr15:101234821 [GRCh38]
Chr15:101775026 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.-197C>T single nucleotide variant not provided [RCV001594506] Chr15:101251653 [GRCh38]
Chr15:101791858 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.816+238C>A single nucleotide variant not provided [RCV001613982] Chr15:101234844 [GRCh38]
Chr15:101775049 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.-233C>T single nucleotide variant not provided [RCV001681913] Chr15:101251689 [GRCh38]
Chr15:101791894 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.-32GGC[9] microsatellite not provided [RCV001695575] Chr15:101251479..101251480 [GRCh38]
Chr15:101791684..101791685 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.816+244C>T single nucleotide variant not provided [RCV001690422] Chr15:101234838 [GRCh38]
Chr15:101775043 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.2335G>A (p.Glu779Lys) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001217736] Chr15:101177462 [GRCh38]
Chr15:101717667 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.787G>T (p.Ala263Ser) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001234113] Chr15:101235111 [GRCh38]
Chr15:101775316 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.3(chr15:98795669-102429112)x1 copy number loss not provided [RCV001006730] Chr15:98795669..102429112 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:101683593-102270458)x3 copy number gain not provided [RCV001259823] Chr15:101683593..102270458 [GRCh37]
Chr15:15q26.3		 likely benign
GRCh37/hg19 15q26.2-26.3(chr15:98275761-102358202)x1 copy number loss not provided [RCV001259819] Chr15:98275761..102358202 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:100853021-102429112)x1 copy number loss not provided [RCV001259829] Chr15:100853021..102429112 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1 copy number loss See cases [RCV001263026] Chr15:86962053..102531392 [GRCh37]
Chr15:15q25.3-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:92335751-102399741)x1 copy number loss not provided [RCV001537887] Chr15:92335751..102399741 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
NM_014918.5(CHSY1):c.2273A>G (p.Lys758Arg) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001305724] Chr15:101177524 [GRCh38]
Chr15:101717729 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1328A>G (p.Tyr443Cys) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001340213] Chr15:101178469 [GRCh38]
Chr15:101718674 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.989G>A (p.Arg330His) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001301868] Chr15:101178808 [GRCh38]
Chr15:101719013 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2312A>G (p.Tyr771Cys) single nucleotide variant Inborn genetic diseases [RCV004610577] Chr15:101177485 [GRCh38]
Chr15:101717690 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2405C>T (p.Ala802Val) single nucleotide variant Inborn genetic diseases [RCV004610582] Chr15:101177392 [GRCh38]
Chr15:101717597 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.158C>T (p.Ala53Val) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001326458] Chr15:101251299 [GRCh38]
Chr15:101791504 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1086C>G (p.Phe362Leu) single nucleotide variant Inborn genetic diseases [RCV004610580] Chr15:101178711 [GRCh38]
Chr15:101718916 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1469C>T (p.Ala490Val) single nucleotide variant Inborn genetic diseases [RCV004610583] Chr15:101178328 [GRCh38]
Chr15:101718533 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.949A>G (p.Ser317Gly) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001346532] Chr15:101178848 [GRCh38]
Chr15:101719053 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.793G>A (p.Val265Met) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001365164] Chr15:101235105 [GRCh38]
Chr15:101775310 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.966C>T (p.Arg322=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001374297] Chr15:101178831 [GRCh38]
Chr15:101719036 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.988C>T (p.Arg330Cys) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001325829] Chr15:101178809 [GRCh38]
Chr15:101719014 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.94T>C (p.Ser32Pro) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001345554] Chr15:101251363 [GRCh38]
Chr15:101791568 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2293G>A (p.Gly765Arg) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001369863] Chr15:101177504 [GRCh38]
Chr15:101717709 [GRCh37]
Chr15:15q26.3		 uncertain significance
Single allele deletion Chromosome 15q26-qter deletion syndrome [RCV001391674] Chr15:99192811..101791668 [GRCh37]
Chr15:15q26.3		 likely pathogenic
NM_014918.5(CHSY1):c.1267A>G (p.Arg423Gly) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001304424] Chr15:101178530 [GRCh38]
Chr15:101718735 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2029A>G (p.Asn677Asp) single nucleotide variant Inborn genetic diseases [RCV004980384]|Temtamy preaxial brachydactyly syndrome [RCV001365939] Chr15:101177768 [GRCh38]
Chr15:101717973 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.320+6C>T single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001522580] Chr15:101251131 [GRCh38]
Chr15:101791336 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.843C>T (p.Tyr281=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001480061] Chr15:101178954 [GRCh38]
Chr15:101719159 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1763G>C (p.Arg588Thr) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001522787]|not provided [RCV001685419] Chr15:101178034 [GRCh38]
Chr15:101718239 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.573C>T (p.Ser191=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001518362] Chr15:101235325 [GRCh38]
Chr15:101775530 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.1075C>T (p.Pro359Ser) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001516362]|not provided [RCV001707869] Chr15:101178722 [GRCh38]
Chr15:101718927 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.582C>G (p.Leu194=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001464114] Chr15:101235316 [GRCh38]
Chr15:101775521 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1494T>C (p.Asn498=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001470486] Chr15:101178303 [GRCh38]
Chr15:101718508 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.798G>A (p.Gln266=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001469319] Chr15:101235100 [GRCh38]
Chr15:101775305 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.2114G>A (p.Arg705Gln) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001517249]|not provided [RCV001615199] Chr15:101177683 [GRCh38]
Chr15:101717888 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.2352A>G (p.Lys784=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001485653] Chr15:101177445 [GRCh38]
Chr15:101717650 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1903_1905delinsCTC (p.Val635Leu) indel not provided [RCV001755634] Chr15:101177892..101177894 [GRCh38]
Chr15:101718097..101718099 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.825G>C (p.Gln275His) single nucleotide variant Inborn genetic diseases [RCV003277051] Chr15:101178972 [GRCh38]
Chr15:101719177 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1103G>A (p.Arg368His) single nucleotide variant Inborn genetic diseases [RCV004040694]|not provided [RCV001774915] Chr15:101178694 [GRCh38]
Chr15:101718899 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2242C>T (p.Pro748Ser) single nucleotide variant Inborn genetic diseases [RCV002541052]|not provided [RCV001776314] Chr15:101177555 [GRCh38]
Chr15:101717760 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1229T>C (p.Met410Thr) single nucleotide variant Inborn genetic diseases [RCV002544168]|not provided [RCV001757520] Chr15:101178568 [GRCh38]
Chr15:101718773 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1718A>G (p.Asn573Ser) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002489814]|not provided [RCV001759031] Chr15:101178079 [GRCh38]
Chr15:101718284 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.3(chr15:101783340-102429112)x3 copy number gain not provided [RCV001832991] Chr15:101783340..102429112 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.816+290T>C single nucleotide variant not provided [RCV001777081] Chr15:101234792 [GRCh38]
Chr15:101774997 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.218C>T (p.Pro73Leu) single nucleotide variant not provided [RCV001759030] Chr15:101251239 [GRCh38]
Chr15:101791444 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.253A>G (p.Asn85Asp) single nucleotide variant Inborn genetic diseases [RCV002554186]|Temtamy preaxial brachydactyly syndrome [RCV001908675]|not provided [RCV003222358] Chr15:101251204 [GRCh38]
Chr15:101791409 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.973T>A (p.Ser325Thr) single nucleotide variant Inborn genetic diseases [RCV002557568]|Temtamy preaxial brachydactyly syndrome [RCV001927653] Chr15:101178824 [GRCh38]
Chr15:101719029 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1198G>A (p.Ala400Thr) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001911323] Chr15:101178599 [GRCh38]
Chr15:101718804 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.685C>T (p.Arg229Trp) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001967272] Chr15:101235213 [GRCh38]
Chr15:101775418 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2119G>A (p.Gly707Ser) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001984154] Chr15:101177678 [GRCh38]
Chr15:101717883 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.3(chr15:99258367-102429112) copy number loss not specified [RCV002052494] Chr15:99258367..102429112 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh37/hg19 15q26.3(chr15:101659856-102429112)x3 copy number gain not provided [RCV001827780] Chr15:101659856..102429112 [GRCh37]
Chr15:15q26.3		 likely benign|uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:97223728-102429112) copy number loss not specified [RCV002052491] Chr15:97223728..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
NM_014918.5(CHSY1):c.219C>A (p.Pro73=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001949076] Chr15:101251238 [GRCh38]
Chr15:101791443 [GRCh37]
Chr15:15q26.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_014918.5(CHSY1):c.539G>A (p.Arg180His) single nucleotide variant Inborn genetic diseases [RCV002558474]|Temtamy preaxial brachydactyly syndrome [RCV001926447] Chr15:101235359 [GRCh38]
Chr15:101775564 [GRCh37]
Chr15:15q26.3		 uncertain significance
NC_000015.9:g.(?_98947180)_(101791661_?)dup duplication not provided [RCV002004470] Chr15:98947180..101791661 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2377A>G (p.Ser793Gly) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002006968] Chr15:101177420 [GRCh38]
Chr15:101717625 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.191A>C (p.Asp64Ala) single nucleotide variant Inborn genetic diseases [RCV003375373]|Temtamy preaxial brachydactyly syndrome [RCV002042302] Chr15:101251266 [GRCh38]
Chr15:101791471 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.2-26.3(chr15:97026327-102429112) copy number loss not specified [RCV002052490] Chr15:97026327..102429112 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
NM_014918.5(CHSY1):c.965G>A (p.Arg322His) single nucleotide variant Inborn genetic diseases [RCV004039813]|Temtamy preaxial brachydactyly syndrome [RCV001901859] Chr15:101178832 [GRCh38]
Chr15:101719037 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.691G>T (p.Val231Leu) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002001236] Chr15:101235207 [GRCh38]
Chr15:101775412 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1468G>T (p.Ala490Ser) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001944142] Chr15:101178329 [GRCh38]
Chr15:101718534 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1972A>G (p.Ile658Val) single nucleotide variant Inborn genetic diseases [RCV004042181]|Temtamy preaxial brachydactyly syndrome [RCV001975686] Chr15:101177825 [GRCh38]
Chr15:101718030 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1552C>G (p.Gln518Glu) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001884804] Chr15:101178245 [GRCh38]
Chr15:101718450 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.469C>T (p.His157Tyr) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002016169] Chr15:101235429 [GRCh38]
Chr15:101775634 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.686G>A (p.Arg229Gln) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001903821] Chr15:101235212 [GRCh38]
Chr15:101775417 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.698G>A (p.Arg233Gln) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001921866] Chr15:101235200 [GRCh38]
Chr15:101775405 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1109G>A (p.Arg370Gln) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001864940] Chr15:101178688 [GRCh38]
Chr15:101718893 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.697C>T (p.Arg233Trp) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV001926073] Chr15:101235201 [GRCh38]
Chr15:101775406 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1957C>G (p.Gln653Glu) single nucleotide variant CHSY1-related disorder [RCV003958646]|Temtamy preaxial brachydactyly syndrome [RCV002112486] Chr15:101177840 [GRCh38]
Chr15:101718045 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.203C>T (p.Ala68Val) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002090528] Chr15:101251254 [GRCh38]
Chr15:101791459 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.306C>A (p.Ala102=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002129982] Chr15:101251151 [GRCh38]
Chr15:101791356 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.255C>T (p.Asn85=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002211822] Chr15:101251202 [GRCh38]
Chr15:101791407 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.817-11dup duplication Temtamy preaxial brachydactyly syndrome [RCV002213583] Chr15:101178990..101178991 [GRCh38]
Chr15:101719195..101719196 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.1224T>C (p.Ile408=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002105906] Chr15:101178573 [GRCh38]
Chr15:101718778 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.51C>T (p.Val17=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002151582] Chr15:101251406 [GRCh38]
Chr15:101791611 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.519C>T (p.Asp173=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002202779] Chr15:101235379 [GRCh38]
Chr15:101775584 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.756C>T (p.Asp252=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002121353] Chr15:101235142 [GRCh38]
Chr15:101775347 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.645T>A (p.Gly215=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002143596] Chr15:101235253 [GRCh38]
Chr15:101775458 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.816+10G>C single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002183753] Chr15:101235072 [GRCh38]
Chr15:101775277 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.320+20G>C single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002144204] Chr15:101251117 [GRCh38]
Chr15:101791322 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.975C>T (p.Ser325=) single nucleotide variant CHSY1-related disorder [RCV003913711]|Temtamy preaxial brachydactyly syndrome [RCV002122795] Chr15:101178822 [GRCh38]
Chr15:101719027 [GRCh37]
Chr15:15q26.3		 benign|likely benign
NM_014918.5(CHSY1):c.1183A>G (p.Arg395Gly) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003118912] Chr15:101178614 [GRCh38]
Chr15:101718819 [GRCh37]
Chr15:15q26.3		 uncertain significance
NC_000015.9:g.(?_101549022)_(101719205_?)dup duplication not provided [RCV003122687] Chr15:101549022..101719205 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.49G>A (p.Val17Ile) single nucleotide variant Inborn genetic diseases [RCV003275862]|Temtamy preaxial brachydactyly syndrome [RCV003779931] Chr15:101251408 [GRCh38]
Chr15:101791613 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3 copy number gain not provided [RCV002475797] Chr15:77512817..102035027 [GRCh37]
Chr15:15q24.3-26.3		 pathogenic
NM_014918.5(CHSY1):c.813T>C (p.Tyr271=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002947844] Chr15:101235085 [GRCh38]
Chr15:101775290 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.469C>G (p.His157Asp) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003016036] Chr15:101235429 [GRCh38]
Chr15:101775634 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.727C>G (p.Leu243Val) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003013661] Chr15:101235171 [GRCh38]
Chr15:101775376 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.40C>T (p.Leu14Phe) single nucleotide variant Inborn genetic diseases [RCV002968164] Chr15:101251417 [GRCh38]
Chr15:101791622 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1411G>A (p.Ala471Thr) single nucleotide variant Inborn genetic diseases [RCV002992276] Chr15:101178386 [GRCh38]
Chr15:101718591 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1612A>T (p.Ile538Phe) single nucleotide variant Inborn genetic diseases [RCV002732764] Chr15:101178185 [GRCh38]
Chr15:101718390 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1168G>A (p.Gly390Ser) single nucleotide variant Inborn genetic diseases [RCV002864376] Chr15:101178629 [GRCh38]
Chr15:101718834 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.278C>G (p.Thr93Ser) single nucleotide variant Inborn genetic diseases [RCV002959234]|Temtamy preaxial brachydactyly syndrome [RCV002971549] Chr15:101251179 [GRCh38]
Chr15:101791384 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.816+10G>T single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003078367] Chr15:101235072 [GRCh38]
Chr15:101775277 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1693G>A (p.Val565Ile) single nucleotide variant Inborn genetic diseases [RCV002870193] Chr15:101178104 [GRCh38]
Chr15:101718309 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2014A>G (p.Lys672Glu) single nucleotide variant Inborn genetic diseases [RCV002950655] Chr15:101177783 [GRCh38]
Chr15:101717988 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2232C>T (p.His744=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002795742] Chr15:101177565 [GRCh38]
Chr15:101717770 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.2202G>A (p.Thr734=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003077341] Chr15:101177595 [GRCh38]
Chr15:101717800 [GRCh37]
Chr15:15q26.3		 benign
NM_014918.5(CHSY1):c.1865A>G (p.Asn622Ser) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002638711] Chr15:101177932 [GRCh38]
Chr15:101718137 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1658A>G (p.Asn553Ser) single nucleotide variant Inborn genetic diseases [RCV002737307] Chr15:101178139 [GRCh38]
Chr15:101718344 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2395G>T (p.Val799Leu) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003005200] Chr15:101177402 [GRCh38]
Chr15:101717607 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1339T>C (p.Tyr447His) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003042880] Chr15:101178458 [GRCh38]
Chr15:101718663 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.417G>A (p.Val139=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003057141] Chr15:101235481 [GRCh38]
Chr15:101775686 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.2219T>C (p.Val740Ala) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003058280] Chr15:101177578 [GRCh38]
Chr15:101717783 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.120G>C (p.Arg40=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002933137] Chr15:101251337 [GRCh38]
Chr15:101791542 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1890C>T (p.Cys630=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002928204] Chr15:101177907 [GRCh38]
Chr15:101718112 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.404C>A (p.Pro135Gln) single nucleotide variant Inborn genetic diseases [RCV004963318]|Temtamy preaxial brachydactyly syndrome [RCV002982350] Chr15:101235494 [GRCh38]
Chr15:101775699 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1736A>G (p.Asp579Gly) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002581102] Chr15:101178061 [GRCh38]
Chr15:101718266 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2403A>G (p.Thr801=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002942064] Chr15:101177394 [GRCh38]
Chr15:101717599 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.271G>T (p.Val91Phe) single nucleotide variant Inborn genetic diseases [RCV002941274] Chr15:101251186 [GRCh38]
Chr15:101791391 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1689G>C (p.Gln563His) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002598503] Chr15:101178108 [GRCh38]
Chr15:101718313 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1793A>G (p.Asp598Gly) single nucleotide variant Inborn genetic diseases [RCV002673470] Chr15:101178004 [GRCh38]
Chr15:101718209 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.89G>A (p.Arg30Gln) single nucleotide variant Inborn genetic diseases [RCV002656352] Chr15:101251368 [GRCh38]
Chr15:101791573 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1059C>G (p.Asp353Glu) single nucleotide variant Inborn genetic diseases [RCV002723579] Chr15:101178738 [GRCh38]
Chr15:101718943 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1085T>C (p.Phe362Ser) single nucleotide variant Inborn genetic diseases [RCV002652883] Chr15:101178712 [GRCh38]
Chr15:101718917 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1167C>T (p.Asp389=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002633549] Chr15:101178630 [GRCh38]
Chr15:101718835 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1492A>T (p.Asn498Tyr) single nucleotide variant Inborn genetic diseases [RCV003170986]|Temtamy preaxial brachydactyly syndrome [RCV003066479] Chr15:101178305 [GRCh38]
Chr15:101718510 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.580C>T (p.Leu194Phe) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV002654460] Chr15:101235318 [GRCh38]
Chr15:101775523 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.151G>A (p.Gly51Arg) single nucleotide variant Inborn genetic diseases [RCV004978777]|Temtamy preaxial brachydactyly syndrome [RCV003144973] Chr15:101251306 [GRCh38]
Chr15:101791511 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1472A>G (p.Gln491Arg) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003144974] Chr15:101178325 [GRCh38]
Chr15:101718530 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.157G>A (p.Ala53Thr) single nucleotide variant Inborn genetic diseases [RCV003278002] Chr15:101251300 [GRCh38]
Chr15:101791505 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1303G>A (p.Gly435Ser) single nucleotide variant not provided [RCV003227249] Chr15:101178494 [GRCh38]
Chr15:101718699 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1484A>G (p.Lys495Arg) single nucleotide variant Inborn genetic diseases [RCV003216941] Chr15:101178313 [GRCh38]
Chr15:101718518 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3 copy number gain not provided [RCV003222840] Chr15:84228005..102264590 [GRCh37]
Chr15:15q25.2-26.3		 pathogenic
NM_014918.5(CHSY1):c.2320A>T (p.Thr774Ser) single nucleotide variant Inborn genetic diseases [RCV003259422] Chr15:101177477 [GRCh38]
Chr15:101717682 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1702G>A (p.Val568Met) single nucleotide variant Inborn genetic diseases [RCV003205191] Chr15:101178095 [GRCh38]
Chr15:101718300 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3 copy number gain See cases [RCV003329502] Chr15:75165490..102520892 [GRCh37]
Chr15:15q24.1-26.3		 pathogenic
NM_014918.5(CHSY1):c.37C>T (p.Leu13=) single nucleotide variant not provided [RCV003395067] Chr15:101251420 [GRCh38]
Chr15:101791625 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.962G>A (p.Ser321Asn) single nucleotide variant Inborn genetic diseases [RCV003383087] Chr15:101178835 [GRCh38]
Chr15:101719040 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1891G>A (p.Asp631Asn) single nucleotide variant Inborn genetic diseases [RCV003384396] Chr15:101177906 [GRCh38]
Chr15:101718111 [GRCh37]
Chr15:15q26.3		 uncertain significance
Single allele deletion not provided [RCV003448683] Chr15:98565904..102400021 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_014918.5(CHSY1):c.1436A>C (p.Lys479Thr) single nucleotide variant not provided [RCV003395065] Chr15:101178361 [GRCh38]
Chr15:101718566 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.817-6450_817-6449insGGATGGAGGGTGCTCCATGGAGAGTGTTCACAGGGAAGGAGGATGGACGGTGCTCCATGGAGGGCGTTCACAGGGAAGGG insertion not provided [RCV003390567] Chr15:101185429..101185430 [GRCh38]
Chr15:101725634..101725635 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.279C>T (p.Thr93=) single nucleotide variant not provided [RCV003390568] Chr15:101251178 [GRCh38]
Chr15:101791383 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.817-9142T>C single nucleotide variant not provided [RCV003395066] Chr15:101188122 [GRCh38]
Chr15:101728327 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1213T>C (p.Leu405=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003525596] Chr15:101178584 [GRCh38]
Chr15:101718789 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.576G>C (p.Glu192Asp) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003525685] Chr15:101235322 [GRCh38]
Chr15:101775527 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.477C>T (p.His159=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003527006] Chr15:101235421 [GRCh38]
Chr15:101775626 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1548C>G (p.Pro516=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003526941] Chr15:101178249 [GRCh38]
Chr15:101718454 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1410C>T (p.His470=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003876051] Chr15:101178387 [GRCh38]
Chr15:101718592 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1670C>T (p.Thr557Met) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003527365] Chr15:101178127 [GRCh38]
Chr15:101718332 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.432G>A (p.Pro144=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003526983] Chr15:101235466 [GRCh38]
Chr15:101775671 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1412C>T (p.Ala471Val) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003526880] Chr15:101178385 [GRCh38]
Chr15:101718590 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2022C>A (p.Pro674=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003840408] Chr15:101177775 [GRCh38]
Chr15:101717980 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.817-11T>C single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003838154] Chr15:101178991 [GRCh38]
Chr15:101719196 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.48C>A (p.Leu16=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003638371] Chr15:101251409 [GRCh38]
Chr15:101791614 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.182C>T (p.Ala61Val) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003859927]|not provided [RCV004780679] Chr15:101251275 [GRCh38]
Chr15:101791480 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1926G>A (p.Gln642=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003639521] Chr15:101177871 [GRCh38]
Chr15:101718076 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.817-6T>G single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003638602] Chr15:101178986 [GRCh38]
Chr15:101719191 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.2307G>A (p.Ser769=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003640320] Chr15:101177490 [GRCh38]
Chr15:101717695 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.138G>A (p.Glu46=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003869047] Chr15:101251319 [GRCh38]
Chr15:101791524 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1002G>T (p.Leu334=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003638353] Chr15:101178795 [GRCh38]
Chr15:101719000 [GRCh37]
Chr15:15q26.3		 likely benign
GRCh37/hg19 15q26.3(chr15:98679543-102429112)x1 copy number loss not specified [RCV003987093] Chr15:98679543..102429112 [GRCh37]
Chr15:15q26.3		 pathogenic
GRCh37/hg19 15q26.2-26.3(chr15:94300072-101810099)x1 copy number loss not specified [RCV003987112] Chr15:94300072..101810099 [GRCh37]
Chr15:15q26.2-26.3		 pathogenic
GRCh37/hg19 15q26.1-26.3(chr15:94176550-102429112)x3 copy number gain not specified [RCV003987113] Chr15:94176550..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
NM_014918.5(CHSY1):c.574G>A (p.Glu192Lys) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003862074] Chr15:101235324 [GRCh38]
Chr15:101775529 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.226G>A (p.Asp76Asn) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003639846] Chr15:101251231 [GRCh38]
Chr15:101791436 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1296C>T (p.Ile432=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003638232] Chr15:101178501 [GRCh38]
Chr15:101718706 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.2120G>T (p.Gly707Val) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV003638243] Chr15:101177677 [GRCh38]
Chr15:101717882 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.611C>T (p.Thr204Met) single nucleotide variant Inborn genetic diseases [RCV004441648] Chr15:101235287 [GRCh38]
Chr15:101775492 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1370A>G (p.Lys457Arg) single nucleotide variant Inborn genetic diseases [RCV004441641] Chr15:101178427 [GRCh38]
Chr15:101718632 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1894G>A (p.Val632Ile) single nucleotide variant Inborn genetic diseases [RCV004441644] Chr15:101177903 [GRCh38]
Chr15:101718108 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.224C>T (p.Ser75Leu) single nucleotide variant Inborn genetic diseases [RCV004441645] Chr15:101251233 [GRCh38]
Chr15:101791438 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1593T>G (p.Asp531Glu) single nucleotide variant Inborn genetic diseases [RCV004441642] Chr15:101178204 [GRCh38]
Chr15:101718409 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.454A>T (p.Met152Leu) single nucleotide variant Inborn genetic diseases [RCV004441647] Chr15:101235444 [GRCh38]
Chr15:101775649 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.884G>C (p.Ser295Thr) single nucleotide variant Inborn genetic diseases [RCV004441649] Chr15:101178913 [GRCh38]
Chr15:101719118 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1386A>C (p.Lys462Asn) single nucleotide variant CHSY1-related disorder [RCV003894543] Chr15:101178411 [GRCh38]
Chr15:101718616 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1296C>G (p.Ile432Met) single nucleotide variant Inborn genetic diseases [RCV004441640] Chr15:101178501 [GRCh38]
Chr15:101718706 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1675C>G (p.Leu559Val) single nucleotide variant Inborn genetic diseases [RCV004441643] Chr15:101178122 [GRCh38]
Chr15:101718327 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.868A>C (p.Arg290=) single nucleotide variant CHSY1-related disorder [RCV003964621] Chr15:101178929 [GRCh38]
Chr15:101719134 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1040C>T (p.Thr347Ile) single nucleotide variant CHSY1-related disorder [RCV003904437] Chr15:101178757 [GRCh38]
Chr15:101718962 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.3(chr15:98615561-102400033)x1 copy number loss not provided [RCV004577491] Chr15:98615561..102400033 [GRCh37]
Chr15:15q26.3		 pathogenic
NM_014918.5(CHSY1):c.520G>A (p.Val174Met) single nucleotide variant Inborn genetic diseases [RCV004610576] Chr15:101235378 [GRCh38]
Chr15:101775583 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.716T>C (p.Ile239Thr) single nucleotide variant Inborn genetic diseases [RCV004610578] Chr15:101235182 [GRCh38]
Chr15:101775387 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.92C>T (p.Ala31Val) single nucleotide variant Inborn genetic diseases [RCV004610579] Chr15:101251365 [GRCh38]
Chr15:101791570 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1003C>A (p.His335Asn) single nucleotide variant Inborn genetic diseases [RCV004610584] Chr15:101178794 [GRCh38]
Chr15:101718999 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1555C>G (p.Leu519Val) single nucleotide variant Inborn genetic diseases [RCV004610581] Chr15:101178242 [GRCh38]
Chr15:101718447 [GRCh37]
Chr15:15q26.3		 uncertain significance
GRCh37/hg19 15q26.1-26.3(chr15:93918298-102429112)x1 copy number loss not provided [RCV004819384] Chr15:93918298..102429112 [GRCh37]
Chr15:15q26.1-26.3		 pathogenic
NM_014918.5(CHSY1):c.1680C>G (p.Ile560Met) single nucleotide variant Inborn genetic diseases [RCV004973839] Chr15:101178117 [GRCh38]
Chr15:101718322 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.715A>G (p.Ile239Val) single nucleotide variant Inborn genetic diseases [RCV004973840] Chr15:101235183 [GRCh38]
Chr15:101775388 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.2191G>A (p.Gly731Ser) single nucleotide variant Inborn genetic diseases [RCV004973841] Chr15:101177606 [GRCh38]
Chr15:101717811 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.409C>T (p.Arg137Trp) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005005717] Chr15:101235489 [GRCh38]
Chr15:101775694 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1662T>G (p.Phe554Leu) single nucleotide variant Inborn genetic diseases [RCV004973838] Chr15:101178135 [GRCh38]
Chr15:101718340 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1087A>G (p.Met363Val) single nucleotide variant Inborn genetic diseases [RCV004967846] Chr15:101178710 [GRCh38]
Chr15:101718915 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.30C>T (p.Leu10=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005145900] Chr15:101251427 [GRCh38]
Chr15:101791632 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1470A>G (p.Ala490=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005087870] Chr15:101178327 [GRCh38]
Chr15:101718532 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.110C>T (p.Ala37Val) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005184078] Chr15:101251347 [GRCh38]
Chr15:101791552 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.1482C>T (p.Ala494=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005205138] Chr15:101178315 [GRCh38]
Chr15:101718520 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1614T>C (p.Ile538=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005166524] Chr15:101178183 [GRCh38]
Chr15:101718388 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.189_200dup (p.Gly67_Ala68insAspAlaArgGly) duplication Temtamy preaxial brachydactyly syndrome [RCV005143939] Chr15:101251256..101251257 [GRCh38]
Chr15:101791461..101791462 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.955A>G (p.Met319Val) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005136874] Chr15:101178842 [GRCh38]
Chr15:101719047 [GRCh37]
Chr15:15q26.3		 uncertain significance
NM_014918.5(CHSY1):c.564G>A (p.Leu188=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005167801] Chr15:101235334 [GRCh38]
Chr15:101775539 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.780G>A (p.Arg260=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005083123] Chr15:101235118 [GRCh38]
Chr15:101775323 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.216G>T (p.Pro72=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005189709] Chr15:101251241 [GRCh38]
Chr15:101791446 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.174C>T (p.Ala58=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005192253] Chr15:101251283 [GRCh38]
Chr15:101791488 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.1542C>T (p.Leu514=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005187587] Chr15:101178255 [GRCh38]
Chr15:101718460 [GRCh37]
Chr15:15q26.3		 likely benign
NM_014918.5(CHSY1):c.516T>C (p.Asp172=) single nucleotide variant Temtamy preaxial brachydactyly syndrome [RCV005181593] Chr15:101235382 [GRCh38]
Chr15:101775587 [GRCh37]
Chr15:15q26.3		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1436
Count of miRNA genes:805
Interacting mature miRNAs:928
Transcripts:ENST00000254190, ENST00000543813, ENST00000559384, ENST00000560766, ENST00000561143, ENST00000561414
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597306266GWAS1402340_HBMI-adjusted hip circumference QTL GWAS1402340 (human)1e-10BMI-adjusted hip circumferencehip circumference (CMO:0000014)15101178034101178035Human
597221400GWAS1317474_Hcentral corneal thickness QTL GWAS1317474 (human)5e-08central corneal thickness15101241729101241730Human
597082012GWAS1178086_Hneutrophil count QTL GWAS1178086 (human)2e-41neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)15101208022101208023Human
597197203GWAS1293277_Hlean body mass QTL GWAS1293277 (human)1e-08body lean mass (VT:0010483)total body lean mass (CMO:0003950)15101178034101178035Human
597337238GWAS1433312_Hbreast density QTL GWAS1433312 (human)0.000006breast density15101233571101233572Human
596951064GWAS1070583_Hcentral corneal thickness QTL GWAS1070583 (human)3e-08central corneal thickness15101241729101241730Human
597083289GWAS1179363_Hneutrophil count QTL GWAS1179363 (human)2e-43neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)15101208022101208023Human
407025874GWAS674850_Hcorneal topography QTL GWAS674850 (human)2e-09corneal topography15101241729101241730Human
597130887GWAS1226961_Hcortical thickness QTL GWAS1226961 (human)3e-08cortical thickness15101246542101246543Human
597170698GWAS1266772_Haortic measurement QTL GWAS1266772 (human)3e-09aortic measurementaorta measurement (CMO:0001474)15101249362101249363Human
406917976GWAS566952_HAstigmatism QTL GWAS566952 (human)0.000007Astigmatism15101181687101181688Human
596955400GWAS1074919_Hsize QTL GWAS1074919 (human)2e-21size15101178034101178035Human
597609018GWAS1665878_Hbody weight QTL GWAS1665878 (human)8e-17body mass (VT:0001259)body weight (CMO:0000012)15101178034101178035Human
597262783GWAS1358857_HBMI-adjusted hip circumference QTL GWAS1358857 (human)9e-09BMI-adjusted hip circumferencehip circumference (CMO:0000014)15101222334101222335Human
597340733GWAS1436807_Hbone fracture QTL GWAS1436807 (human)0.0000003bone fracture15101177892101177893Human
597293361GWAS1389435_Hlymphocyte measurement, neutrophil measurement QTL GWAS1389435 (human)3e-12lymphocyte measurement, neutrophil measurement15101178722101178723Human
597214771GWAS1310845_Hpulse pressure measurement QTL GWAS1310845 (human)2e-09pulse pressure measurementpulse pressure (CMO:0000292)15101251007101251008Human
597266743GWAS1362817_Hcup-to-disc ratio measurement QTL GWAS1362817 (human)6e-10cup-to-disc ratio measurement15101213189101213190Human
597607729GWAS1664589_Hbody weight QTL GWAS1664589 (human)9e-18body mass (VT:0001259)body weight (CMO:0000012)15101178034101178035Human
406977262GWAS626238_Hneutrophil count, basophil count QTL GWAS626238 (human)3e-13basophil quantity (VT:0002607)blood granulocyte count (CMO:0000111)15101183294101183295Human
406889456GWAS538432_Hneutrophil percentage of leukocytes QTL GWAS538432 (human)1e-13neutrophil quantity (VT:0000222)blood neutrophil count to total leukocyte count ratio (CMO:0000370)15101183294101183295Human
406957424GWAS606400_Hmonocyte percentage of leukocytes QTL GWAS606400 (human)9e-13monocyte quantity (VT:0000223)blood monocyte count to total leukocyte count ratio (CMO:0000374)15101176592101176593Human
597305257GWAS1401331_Hneutrophil count QTL GWAS1401331 (human)5e-26neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)15101183294101183295Human
597087914GWAS1183988_Hmonocyte percentage of leukocytes QTL GWAS1183988 (human)1e-32monocyte quantity (VT:0000223)blood monocyte count to total leukocyte count ratio (CMO:0000374)15101176592101176593Human
406971644GWAS620620_Hneutrophil count QTL GWAS620620 (human)5e-13neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)15101183294101183295Human
597202341GWAS1298415_Hdiastolic blood pressure QTL GWAS1298415 (human)0.000003diastolic blood pressurediastolic blood pressure (CMO:0000005)15101251007101251008Human
597321764GWAS1417838_Hcup-to-disc ratio measurement QTL GWAS1417838 (human)2e-08cup-to-disc ratio measurement15101211493101211494Human
597191513GWAS1287587_Hhippocampal CA1 volume QTL GWAS1287587 (human)2e-08hippocampal CA1 volume15101247764101247765Human
597057877GWAS1153951_Hbasophil count QTL GWAS1153951 (human)7e-13basophil quantity (VT:0002607)blood basophil count (CMO:0000034)15101208022101208023Human
597151827GWAS1247901_HDupuytren Contracture QTL GWAS1247901 (human)6e-13Dupuytren Contracture15101233358101233359Human
406958087GWAS607063_Hgranulocyte percentage of myeloid white cells QTL GWAS607063 (human)6e-17granulocyte quantity (VT:0000334)15101176592101176593Human
597104080GWAS1200154_Hneutrophil count QTL GWAS1200154 (human)2e-36neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)15101183294101183295Human
597056081GWAS1152155_Hbasophil count QTL GWAS1152155 (human)1e-16basophil quantity (VT:0002607)blood basophil count (CMO:0000034)15101208022101208023Human
597099230GWAS1195304_Hneutrophil percentage of leukocytes QTL GWAS1195304 (human)3e-26neutrophil quantity (VT:0000222)blood neutrophil count to total leukocyte count ratio (CMO:0000370)15101208022101208023Human
597059039GWAS1155113_Hcentral corneal thickness QTL GWAS1155113 (human)0.0000002central corneal thickness15101248839101248840Human
597149510GWAS1245584_Hprostate carcinoma QTL GWAS1245584 (human)2e-08prostate carcinoma15101227386101227387Human
596955718GWAS1075237_Hlymphocyte measurement, neutrophil measurement QTL GWAS1075237 (human)3e-12lymphocyte measurement, neutrophil measurement15101178722101178723Human
597078341GWAS1174415_Hlymphocyte percentage of leukocytes QTL GWAS1174415 (human)8e-17lymphocyte quantity (VT:0000717)blood lymphocyte count to total leukocyte count ratio (CMO:0000371)15101208022101208023Human
597318734GWAS1414808_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1414808 (human)4e-11diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)15101251007101251008Human
597291727GWAS1387801_Hsize QTL GWAS1387801 (human)2e-21size15101178034101178035Human
597262784GWAS1358858_HBMI-adjusted hip circumference QTL GWAS1358858 (human)4e-14body surface areahip circumference (CMO:0000014)15101178034101178035Human
596963534GWAS1083053_HBMI-adjusted hip circumference QTL GWAS1083053 (human)4e-14BMI-adjusted hip circumference15101178034101178035Human
597056971GWAS1153045_Hbasophil count QTL GWAS1153045 (human)3e-15basophil quantity (VT:0002607)blood basophil count (CMO:0000034)15101208405101208407Human
597339589GWAS1435663_Hsexual dimorphism measurement QTL GWAS1435663 (human)6e-09sexual dimorphism measurement15101218022101218023Human
597194872GWAS1290946_Hsexual dimorphism measurement QTL GWAS1290946 (human)4e-10sexual dimorphism measurement15101178034101178035Human
406963491GWAS612467_Hneutrophil count, eosinophil count QTL GWAS612467 (human)4e-12eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)15101183294101183295Human
597061364GWAS1157438_Hcentral corneal thickness QTL GWAS1157438 (human)3e-08central corneal thickness15101241729101241730Human
597148287GWAS1244361_Hprostate carcinoma QTL GWAS1244361 (human)1e-08prostate carcinoma15101227386101227387Human
597339633GWAS1435707_Hsexual dimorphism measurement QTL GWAS1435707 (human)8e-09sexual dimorphism measurement15101178034101178035Human
597137529GWAS1233603_Hdiastolic blood pressure, systolic blood pressure QTL GWAS1233603 (human)2e-14diastolic blood pressure, systolic blood pressuresystolic blood pressure (CMO:0000004)15101251007101251008Human
597313518GWAS1409592_Hcortical thickness QTL GWAS1409592 (human)2e-10cortical thickness15101246528101246529Human
597612265GWAS1669125_Hbody weight QTL GWAS1669125 (human)9e-19body mass (VT:0001259)body weight (CMO:0000012)15101178034101178035Human
406967993GWAS616969_Hgranulocyte count QTL GWAS616969 (human)3e-12granulocyte quantity (VT:0000334)blood granulocyte count (CMO:0000111)15101183294101183295Human
597110250GWAS1206324_Hankylosing spondylitis QTL GWAS1206324 (human)0.000007ankylosing spondylitis15101227617101227618Human
596976362GWAS1095881_Hbody height QTL GWAS1095881 (human)6e-67body height15101178034101178035Human

Markers in Region
D11S2252E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,716,053 - 101,716,127UniSTSGRCh37
GRCh37119,651,564 - 9,651,637UniSTSGRCh37
Build 36119,608,140 - 9,608,213RGDNCBI36
Celera1578,129,160 - 78,129,234UniSTS
Celera119,772,977 - 9,773,050RGD
Cytogenetic Map15q26.3UniSTS
HuRef1577,838,539 - 77,838,613UniSTS
HuRef119,323,252 - 9,323,325UniSTS
RH121848  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,719,397 - 101,719,701UniSTSGRCh37
Build 361599,536,920 - 99,537,224RGDNCBI36
Celera1578,132,504 - 78,132,808RGD
Cytogenetic Map15q26.3UniSTS
HuRef1577,841,883 - 77,842,187UniSTS
SHGC-147931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,733,816 - 101,734,103UniSTSGRCh37
Build 361599,551,339 - 99,551,626RGDNCBI36
Celera1578,147,011 - 78,147,298RGD
Cytogenetic Map15q26.3UniSTS
HuRef1577,856,386 - 77,856,673UniSTS
RH189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3715101,716,063 - 101,716,250UniSTSGRCh37
Build 361599,533,586 - 99,533,773RGDNCBI36
Celera1578,129,170 - 78,129,357RGD
Cytogenetic Map15q26.3UniSTS
HuRef1577,838,549 - 77,838,736UniSTS
GeneMap99-GB4 RH Map15358.04UniSTS
NCBI RH Map15733.7UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2349 6 624 1951 465 2270 7305 6471 53 3734 1 852 1744 1615 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_031908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006720435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011521364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB023207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB071402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC023024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL137409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ007796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000254190   ⟹   ENSP00000254190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15101,175,727 - 101,252,048 (-)Ensembl
Ensembl Acc Id: ENST00000543813   ⟹   ENSP00000496160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15101,177,101 - 101,235,147 (-)Ensembl
Ensembl Acc Id: ENST00000559384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15101,235,509 - 101,242,617 (-)Ensembl
Ensembl Acc Id: ENST00000560766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15101,178,577 - 101,188,025 (-)Ensembl
Ensembl Acc Id: ENST00000561143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15101,187,541 - 101,189,567 (-)Ensembl
Ensembl Acc Id: ENST00000561414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl15101,178,602 - 101,187,870 (-)Ensembl
RefSeq Acc Id: NM_014918   ⟹   NP_055733
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815101,175,727 - 101,252,048 (-)NCBI
GRCh3715101,715,928 - 101,792,137 (-)RGD
GRCh3715101,715,928 - 101,792,137 (-)NCBI
Build 361599,533,455 - 99,609,649 (-)NCBI Archive
Celera1578,129,035 - 78,204,977 (-)RGD
HuRef1577,838,413 - 77,914,374 (-)ENTREZGENE
CHM1_115101,556,975 - 101,633,122 (-)NCBI
T2T-CHM13v2.01598,930,755 - 99,007,076 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011521364   ⟹   XP_011519666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815101,175,727 - 101,252,048 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017022011   ⟹   XP_016877500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815101,175,727 - 101,201,423 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024449873   ⟹   XP_024305641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815101,175,727 - 101,185,569 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047432240   ⟹   XP_047288196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3815101,175,727 - 101,201,423 (-)NCBI
RefSeq Acc Id: XM_054377510   ⟹   XP_054233485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01598,930,755 - 99,007,076 (-)NCBI
RefSeq Acc Id: XM_054377511   ⟹   XP_054233486
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01598,930,755 - 98,940,664 (-)NCBI
RefSeq Acc Id: XM_054377512   ⟹   XP_054233487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01598,930,755 - 98,943,308 (-)NCBI
RefSeq Acc Id: XM_054377513   ⟹   XP_054233488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01598,930,755 - 98,973,078 (-)NCBI
RefSeq Acc Id: NP_055733   ⟸   NM_014918
- UniProtKB: Q7LFU5 (UniProtKB/Swiss-Prot),   Q6UX38 (UniProtKB/Swiss-Prot),   Q9Y2J5 (UniProtKB/Swiss-Prot),   Q86X52 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011519666   ⟸   XM_011521364
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016877500   ⟸   XM_017022011
- Peptide Label: isoform X3
- UniProtKB: B4DLD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305641   ⟸   XM_024449873
- Peptide Label: isoform X2
- UniProtKB: B4DLD0 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000496160   ⟸   ENST00000543813
Ensembl Acc Id: ENSP00000254190   ⟸   ENST00000254190
RefSeq Acc Id: XP_047288196   ⟸   XM_047432240
- Peptide Label: isoform X3
- UniProtKB: B4DLD0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233485   ⟸   XM_054377510
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233488   ⟸   XM_054377513
- Peptide Label: isoform X3
- UniProtKB: B4DLD0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233487   ⟸   XM_054377512
- Peptide Label: isoform X3
- UniProtKB: B4DLD0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054233486   ⟸   XM_054377511
- Peptide Label: isoform X4
- UniProtKB: B4DLD0 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q86X52-F1-model_v2 AlphaFold Q86X52 1-802 view protein structure

Promoters
RGD ID:6810737
Promoter ID:HG_ACW:28410
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:CHSY1.BAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361599,545,651 - 99,546,151 (-)MPROMDB
RGD ID:6810738
Promoter ID:HG_ACW:28415
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:CHSY1.EAPR07-UNSPLICED,   CHSY1.FAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361599,592,821 - 99,593,321 (-)MPROMDB
RGD ID:6792179
Promoter ID:HG_KWN:22487
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000313624,   UC002BWT.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361599,608,901 - 99,610,317 (-)MPROMDB
RGD ID:7230689
Promoter ID:EPDNEW_H21091
Type:initiation region
Name:CHSY1_1
Description:chondroitin sulfate synthase 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
GRCh3815101,251,946 - 101,252,006EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17198 AgrOrtholog
COSMIC CHSY1 COSMIC
Ensembl Genes ENSG00000131873 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000254190 ENTREZGENE
  ENST00000254190.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.550.50 UniProtKB/Swiss-Prot
  Spore Coat Polysaccharide Biosynthesis Protein SpsA, Chain A UniProtKB/Swiss-Prot
GTEx ENSG00000131873 GTEx
HGNC ID HGNC:17198 ENTREZGENE
Human Proteome Map CHSY1 Human Proteome Map
InterPro Chond_GalNAc UniProtKB/Swiss-Prot
  CS_glycosyltransferase UniProtKB/Swiss-Prot
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot
KEGG Report hsa:22856 UniProtKB/Swiss-Prot
NCBI Gene 22856 ENTREZGENE
OMIM 608183 OMIM
PANTHER CHONDROITIN SULFATE SYNTHASE 1 UniProtKB/Swiss-Prot
  CHONDROITIN SYNTHASE UniProtKB/Swiss-Prot
Pfam CHGN UniProtKB/Swiss-Prot
PharmGKB PA26509 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot
UniProt A0A2R8Y7B7_HUMAN UniProtKB/TrEMBL
  B4DLD0 ENTREZGENE, UniProtKB/TrEMBL
  CHSS1_HUMAN UniProtKB/Swiss-Prot
  L8E844_HUMAN UniProtKB/TrEMBL
  Q6UX38 ENTREZGENE
  Q7LFU5 ENTREZGENE
  Q86X52 ENTREZGENE
  Q9Y2J5 ENTREZGENE
UniProt Secondary Q6UX38 UniProtKB/Swiss-Prot
  Q7LFU5 UniProtKB/Swiss-Prot
  Q9Y2J5 UniProtKB/Swiss-Prot