ANKH (ANKH inorganic pyrophosphate transport regulator) - Rat Genome Database

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Gene: ANKH (ANKH inorganic pyrophosphate transport regulator) Homo sapiens
Analyze
Symbol: ANKH
Name: ANKH inorganic pyrophosphate transport regulator
RGD ID: 734405
HGNC Page HGNC:15492
Description: Enables ATP transmembrane transporter activity; inorganic diphosphate transmembrane transporter activity; and phosphate transmembrane transporter activity. Involved in ATP export. Located in plasma membrane. Implicated in autosomal dominant craniometaphyseal dysplasia and chondrocalcinosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ANK; ankylosis, progressive homolog; ATP carrier protein ANKH; CCAL2; CMDJ; CPPDD; craniometaphyseal dysplasia, Jackson type (dominant); FLJ27166; HANK; MANK; mineralization regulator ANKH; progressive ankylosis; progressive ankylosis protein homolog; SLC62A1; solute carrier family 62, member 1
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
GRCh38514,704,800 - 14,871,778 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl514,704,800 - 14,871,778 (-)EnsemblGRCh38hg38GRCh38
GRCh37514,704,909 - 14,871,887 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36514,762,019 - 14,924,876 (-)NCBINCBI36Build 36hg18NCBI36
Build 34514,762,018 - 14,924,876NCBI
Celera514,728,867 - 14,895,594 (-)NCBICelera
Cytogenetic Map5p15.2NCBI
HuRef514,677,712 - 14,844,731 (-)NCBIHuRef
CHM1_1514,704,654 - 14,871,772 (-)NCBICHM1_1
T2T-CHM13v2.0514,644,272 - 14,811,218 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP)
7,12-dimethyltetraphene  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
allethrin  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
Aroclor 1254  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
buspirone  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
cantharidin  (ISO)
carbamazepine  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyhalothrin  (ISO)
cypermethrin  (ISO)
diethylstilbestrol  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fenthion  (ISO)
fenvalerate  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
genistein  (ISO)
irinotecan  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (EXP)
methapyrilene  (EXP,ISO)
methidathion  (ISO)
methotrexate  (EXP)
methoxychlor  (ISO)
nefazodone  (ISO)
nickel sulfate  (EXP)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenformin  (ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
propanal  (EXP)
pyrethrins  (ISO)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium chloride  (ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
extracellular region  (IEA,ISO)
membrane  (IDA,IEA)
outer membrane  (TAS)
plasma membrane  (IBA,IDA,IEA,ISS,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cranial nerve morphology  (IAGP)
Abnormal intervertebral disk morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Abnormality of the vertebral column  (IAGP)
Adult onset  (IAGP)
Alveolar ridge overgrowth  (IAGP)
Ankylosis  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Arthropathy  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bony paranasal bossing  (IAGP)
Broad forehead  (IAGP)
Calcification of cartilage  (IAGP)
Calvarial osteosclerosis  (IAGP)
Childhood onset  (IAGP)
Choanal stenosis  (IAGP)
Chondrocalcinosis  (IAGP)
Club-shaped distal femur  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital onset  (IAGP)
Cranial hyperostosis  (IAGP)
Craniofacial hyperostosis  (IAGP)
Decreased body mass index  (IAGP)
Delayed eruption of permanent teeth  (IAGP)
Delayed eruption of primary teeth  (IAGP)
Delayed pneumatization of the mastoid process  (IAGP)
Dental crowding  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Epiblepharon  (IAGP)
Erlenmeyer flask deformity of the femurs  (IAGP)
Exotropia  (IAGP)
Facial palsy  (IAGP)
Feeding difficulties  (IAGP)
Fever  (IAGP)
Flared metaphysis  (IAGP)
Frontal bossing  (IAGP)
Gingival overgrowth  (IAGP)
Hearing impairment  (IAGP)
Hydrocephalus  (IAGP)
Hypercalcemia  (IAGP)
Hypertelorism  (IAGP)
Hypophosphatemia  (IAGP)
Increased circulating osteocalcin level  (IAGP)
Increased inflammatory response  (IAGP)
Incus ankylosis  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intervertebral disk calcification  (IAGP)
Joint dislocation  (IAGP)
Joint stiffness  (IAGP)
Joint swelling  (IAGP)
Juvenile onset  (IAGP)
Limitation of joint mobility  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Mandibular prognathia  (IAGP)
Metaphyseal widening  (IAGP)
Mixed hearing impairment  (IAGP)
Narrow internal auditory canal  (IAGP)
Nasal congestion  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Osteoarthritis  (IAGP)
Osteopetrosis  (IAGP)
Polyarticular chondrocalcinosis  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominence of the zygomatic bone  (IAGP)
Prominent nasal bridge  (IAGP)
Reduced bone mineral density  (IAGP)
Sclerosis of skull base  (IAGP)
Secondary hyperparathyroidism  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short stature  (IAGP)
Skeletal dysplasia  (IAGP)
Small foramen magnum  (IAGP)
Synovitis  (IAGP)
Telecanthus  (IAGP)
Thickened calvaria  (IAGP)
Thin bony cortex  (IAGP)
Tinnitus  (IAGP)
Tooth malposition  (IAGP)
Visual fixation instability  (IAGP)
Visual impairment  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Role of the mouse ank gene in control of tissue calcification and arthritis. Ho AM, etal., Science 2000 Jul 14;289(5477):265-70.
3. Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia. Nurnberg P, etal., Nat Genet 2001 May;28(1):37-41.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. Mutations in ANKH cause chondrocalcinosis. Pendleton A, etal., Am J Hum Genet 2002 Oct;71(4):933-40. Epub 2002 Sep 20.
6. Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK. Reichenberger E, etal., Am J Hum Genet 2001 Jun;68(6):1321-6. Epub 2001 Apr 16.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Progressive ankylosis (Ank) protein is expressed by neurons and Ank immunohistochemical reactivity is increased by limbic seizures. Yepes M, etal., Lab Invest 2003 Jul;83(7):1025-32.
Additional References at PubMed
PMID:8125298   PMID:8528213   PMID:9382103   PMID:9915952   PMID:10610710   PMID:10997877   PMID:12185249   PMID:12297989   PMID:12477932   PMID:12632434   PMID:12707589   PMID:12975309  
PMID:13130483   PMID:14558096   PMID:14702039   PMID:15461680   PMID:15474385   PMID:15489334   PMID:15780964   PMID:15818664   PMID:16344560   PMID:16724232   PMID:17147692   PMID:17186460  
PMID:17403715   PMID:17563703   PMID:17950726   PMID:18299954   PMID:18821330   PMID:19369455   PMID:19419319   PMID:19449425   PMID:19888898   PMID:20186813   PMID:20231843   PMID:20301634  
PMID:20358596   PMID:20379614   PMID:20646567   PMID:20943778   PMID:21149338   PMID:21163940   PMID:21811784   PMID:21873635   PMID:21988832   PMID:22003394   PMID:22089454   PMID:22150416  
PMID:22437419   PMID:22647861   PMID:23390136   PMID:23421944   PMID:23612078   PMID:23726953   PMID:23769559   PMID:24204828   PMID:24293574   PMID:24467728   PMID:24816252   PMID:25025693  
PMID:27142968   PMID:27466194   PMID:28611215   PMID:29056330   PMID:29117863   PMID:30356088   PMID:31356809   PMID:32366894   PMID:32639996   PMID:33660365   PMID:33859255   PMID:33961781  
PMID:34079125   PMID:34737423   PMID:35147247  


Genomics

Comparative Map Data
ANKH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38514,704,800 - 14,871,778 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl514,704,800 - 14,871,778 (-)EnsemblGRCh38hg38GRCh38
GRCh37514,704,909 - 14,871,887 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36514,762,019 - 14,924,876 (-)NCBINCBI36Build 36hg18NCBI36
Build 34514,762,018 - 14,924,876NCBI
Celera514,728,867 - 14,895,594 (-)NCBICelera
Cytogenetic Map5p15.2NCBI
HuRef514,677,712 - 14,844,731 (-)NCBIHuRef
CHM1_1514,704,654 - 14,871,772 (-)NCBICHM1_1
T2T-CHM13v2.0514,644,272 - 14,811,218 (-)NCBIT2T-CHM13v2.0
Ank
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391527,466,763 - 27,594,995 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1527,466,763 - 27,594,995 (+)EnsemblGRCm39 Ensembl
GRCm381527,466,677 - 27,594,909 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1527,466,677 - 27,594,909 (+)EnsemblGRCm38mm10GRCm38
MGSCv371527,396,432 - 27,524,664 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361527,411,402 - 27,539,630 (+)NCBIMGSCv36mm8
Celera1528,188,363 - 28,342,822 (+)NCBICelera
Cytogenetic Map15B1NCBI
cM Map1510.23NCBI
Ankh
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8279,883,350 - 80,011,222 (+)NCBIGRCr8
mRatBN7.2278,153,027 - 78,280,181 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl278,153,026 - 78,280,187 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx285,240,253 - 85,367,690 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0283,361,989 - 83,489,422 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0278,394,033 - 78,521,764 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0280,131,563 - 80,256,948 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl280,131,563 - 80,256,954 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0299,796,579 - 99,921,964 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4279,289,427 - 79,418,518 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1279,234,387 - 79,363,480 (+)NCBI
Celera273,782,876 - 73,934,310 (+)NCBICelera
Cytogenetic Map2q22NCBI
Ankh
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554263,992,671 - 4,130,754 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554263,992,671 - 4,130,754 (-)NCBIChiLan1.0ChiLan1.0
ANKH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2414,944,516 - 15,105,199 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1513,098,133 - 13,258,900 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0515,014,019 - 15,175,467 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1514,849,497 - 15,015,206 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl514,855,914 - 14,917,729 (-)Ensemblpanpan1.1panPan2
ANKH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1488,149,250 - 88,263,926 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl488,149,257 - 88,272,464 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha487,670,608 - 87,785,793 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0488,877,936 - 88,993,145 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl488,877,991 - 88,999,454 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1488,304,136 - 88,419,117 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0488,546,753 - 88,661,820 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0489,403,928 - 89,519,108 (+)NCBIUU_Cfam_GSD_1.0
Ankh
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213232,927,281 - 233,060,862 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366651,520,800 - 1,653,816 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366651,520,800 - 1,654,388 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ANKH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl164,105,165 - 4,271,170 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1164,095,582 - 4,271,073 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2164,444,997 - 4,610,979 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ANKH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1414,401,681 - 14,559,342 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl414,408,116 - 14,559,454 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606413,973,098 - 14,126,427 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ankh
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475111,716,369 - 11,847,758 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475111,716,369 - 11,847,726 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ANKH
435 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_054027.6(ANKH):c.97-13del deletion Craniometaphyseal dysplasia, autosomal dominant [RCV002253879]|not provided [RCV001581954] Chr5:14769204 [GRCh38]
Chr5:14769313 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.1126TTC[1] (p.Phe377del) microsatellite Chondrocalcinosis 2 [RCV002247252]|Craniometaphyseal dysplasia, autosomal dominant [RCV000005501]|not provided [RCV001851667] Chr5:14716716..14716718 [GRCh38]
Chr5:14716825..14716827 [GRCh37]
Chr5:5p15.2		 pathogenic
NM_054027.6(ANKH):c.1165G>A (p.Gly389Arg) single nucleotide variant Chondrocalcinosis 2 [RCV000032998]|Craniometaphyseal dysplasia, autosomal dominant [RCV000005502] Chr5:14713644 [GRCh38]
Chr5:14713753 [GRCh37]
Chr5:5p15.2		 pathogenic
NM_054027.6(ANKH):c.1142-4A>G single nucleotide variant Craniometaphyseal dysplasia, autosomal dominant [RCV000005503]|not provided [RCV001851668] Chr5:14713671 [GRCh38]
Chr5:14713780 [GRCh37]
Chr5:5p15.2		 pathogenic|likely pathogenic
NM_054027.6(ANKH):c.1124_1126del (p.Ser375del) deletion Craniometaphyseal dysplasia, autosomal dominant [RCV000005504]|not provided [RCV001090992] Chr5:14716721..14716723 [GRCh38]
Chr5:14716830..14716832 [GRCh37]
Chr5:5p15.2		 pathogenic|likely pathogenic
NM_054027.6(ANKH):c.143T>C (p.Met48Thr) single nucleotide variant Chondrocalcinosis 2 [RCV000005505] Chr5:14769145 [GRCh38]
Chr5:14769254 [GRCh37]
Chr5:5p15.2		 pathogenic
NM_054027.6(ANKH):c.-11C>T single nucleotide variant Chondrocalcinosis 2 [RCV000005506] Chr5:14871458 [GRCh38]
Chr5:14871567 [GRCh37]
Chr5:5p15.2		 pathogenic
NM_054027.6(ANKH):c.1465GAG[1] (p.Glu490del) microsatellite Chondrocalcinosis 2, sporadic [RCV000005507] Chr5:14711206..14711208 [GRCh38]
Chr5:14711315..14711317 [GRCh37]
Chr5:5p15.2		 pathogenic
NM_054027.6(ANKH):c.14C>T (p.Pro5Leu) single nucleotide variant Chondrocalcinosis 2 [RCV000005508]|not provided [RCV004719627] Chr5:14871434 [GRCh38]
Chr5:14871543 [GRCh37]
Chr5:5p15.2		 pathogenic|likely pathogenic
NM_054027.6(ANKH):c.13C>A (p.Pro5Thr) single nucleotide variant ANKH-related disorder [RCV004734498]|Chondrocalcinosis 2 [RCV000005509] Chr5:14871435 [GRCh38]
Chr5:14871544 [GRCh37]
Chr5:5p15.2		 pathogenic|likely pathogenic
NM_054027.6(ANKH):c.1015T>C (p.Cys339Arg) single nucleotide variant Craniometaphyseal dysplasia, autosomal dominant [RCV000005510] Chr5:14716832 [GRCh38]
Chr5:14716941 [GRCh37]
Chr5:5p15.2		 pathogenic
NM_054027.6(ANKH):c.1172T>C (p.Leu391Pro) single nucleotide variant Craniometaphyseal dysplasia, autosomal dominant [RCV000005511] Chr5:14713637 [GRCh38]
Chr5:14713746 [GRCh37]
Chr5:5p15.2		 pathogenic
NM_054027.6(ANKH):c.1001T>G (p.Leu334Arg) single nucleotide variant Craniometaphyseal dysplasia, autosomal dominant [RCV000005512] Chr5:14741837 [GRCh38]
Chr5:14741946 [GRCh37]
Chr5:5p15.2		 pathogenic
NM_054027.4(ANKH):c.96+25081A>G single nucleotide variant Lung cancer [RCV000095378] Chr5:14846271 [GRCh38]
Chr5:14846380 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000050295] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3 copy number gain See cases [RCV000051811] Chr5:54839..35680845 [GRCh38]
Chr5:54954..35680947 [GRCh37]
Chr5:107954..35716704 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
GRCh38/hg38 5p15.2-15.1(chr5:14859578-15364361)x3 copy number gain See cases [RCV000051700] Chr5:14859578..15364361 [GRCh38]
Chr5:14859687..15364470 [GRCh37]
Chr5:14912687..15417470 [NCBI36]
Chr5:5p15.2-15.1		 uncertain significance
GRCh38/hg38 5p15.33-14.3(chr5:22149-23132046)x1 copy number loss See cases [RCV000053398] Chr5:22149..23132046 [GRCh38]
Chr5:22149..23132155 [GRCh37]
Chr5:75149..23167912 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17425613)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053401]|See cases [RCV000053401] Chr5:22149..17425613 [GRCh38]
Chr5:22149..17425722 [GRCh37]
Chr5:75149..17478722 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15995341)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053418]|See cases [RCV000053418] Chr5:22149..15995341 [GRCh38]
Chr5:22149..15995450 [GRCh37]
Chr5:75149..16048450 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22419-19280892)x1 copy number loss See cases [RCV000053419] Chr5:22419..19280892 [GRCh38]
Chr5:22419..19281001 [GRCh37]
Chr5:75419..19316758 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49778-16908798)x1 copy number loss See cases [RCV000053422] Chr5:49778..16908798 [GRCh38]
Chr5:49893..16908907 [GRCh37]
Chr5:102893..16961907 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:49778-19125522)x1 copy number loss See cases [RCV000053424] Chr5:49778..19125522 [GRCh38]
Chr5:49893..19125631 [GRCh37]
Chr5:102893..19161388 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:547757-26541238)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053445]|See cases [RCV000053445] Chr5:547757..26541238 [GRCh38]
Chr5:547872..26541347 [GRCh37]
Chr5:600872..26577104 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:2180761-17602433)x1 copy number loss See cases [RCV000053446] Chr5:2180761..17602433 [GRCh38]
Chr5:2180875..17602542 [GRCh37]
Chr5:2233875..17645646 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.2-14.3(chr5:13609772-21930280)x1 copy number loss See cases [RCV000053447] Chr5:13609772..21930280 [GRCh38]
Chr5:13609881..21930389 [GRCh37]
Chr5:13662881..21966146 [NCBI36]
Chr5:5p15.2-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1 copy number loss See cases [RCV001310287] Chr5:22149..29048823 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-33418188)x3 copy number gain See cases [RCV000133788] Chr5:22149..33418188 [GRCh38]
Chr5:22149..33418294 [GRCh37]
Chr5:75149..33454051 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-30672798)x1 copy number loss See cases [RCV000515550] Chr5:25328..30672798 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-25699605)x1 copy number loss See cases [RCV000133768] Chr5:22149..25699605 [GRCh38]
Chr5:22149..25699714 [GRCh37]
Chr5:75149..25735471 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27788616)x1 copy number loss See cases [RCV000134873] Chr5:22149..27788616 [GRCh38]
Chr5:22149..27788723 [GRCh37]
Chr5:75149..27824480 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1 copy number loss See cases [RCV000135668] Chr5:22149..32248010 [GRCh38]
Chr5:22149..32248116 [GRCh37]
Chr5:75149..32283873 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-13.3(chr5:49978-30112535)x1 copy number loss See cases [RCV000135878] Chr5:49978..30112535 [GRCh38]
Chr5:50093..30112642 [GRCh37]
Chr5:103093..30148399 [NCBI36]
Chr5:5p15.33-13.3		 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 copy number loss See cases [RCV000136556] Chr5:22149..16584575 [GRCh38]
Chr5:22149..16584684 [GRCh37]
Chr5:75149..16637684 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.2-15.1(chr5:12572563-17965988)x1 copy number loss See cases [RCV000136041] Chr5:12572563..17965988 [GRCh38]
Chr5:12572675..17966097 [GRCh37]
Chr5:12625675..18001854 [NCBI36]
Chr5:5p15.2-15.1		 pathogenic
GRCh38/hg38 5p15.2-15.1(chr5:10212880-16770474)x3 copy number gain See cases [RCV000136902] Chr5:10212880..16770474 [GRCh38]
Chr5:10212992..16770583 [GRCh37]
Chr5:10265992..16823583 [NCBI36]
Chr5:5p15.2-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27485619)x1 copy number loss See cases [RCV000137072] Chr5:22149..27485619 [GRCh38]
Chr5:22149..27485726 [GRCh37]
Chr5:75149..27521483 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-15851376)x3 copy number gain See cases [RCV000136943] Chr5:22149..15851376 [GRCh38]
Chr5:22149..15851485 [GRCh37]
Chr5:75149..15904485 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-28075106)x3 copy number gain See cases [RCV000137682] Chr5:22149..28075106 [GRCh38]
Chr5:22149..28075213 [GRCh37]
Chr5:75149..28110970 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic|uncertain significance
GRCh38/hg38 5p15.33-14.1(chr5:22149-28429241)x1 copy number loss See cases [RCV000137165] Chr5:22149..28429241 [GRCh38]
Chr5:22149..28429348 [GRCh37]
Chr5:75149..28465105 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-22775295)x1 copy number loss See cases [RCV000138116] Chr5:22149..22775295 [GRCh38]
Chr5:22149..22775404 [GRCh37]
Chr5:75149..22811161 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27187950)x1 copy number loss See cases [RCV000138099] Chr5:22149..27187950 [GRCh38]
Chr5:22149..27188057 [GRCh37]
Chr5:75149..27223814 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.2(chr5:22149-23607053)x3 copy number gain See cases [RCV000137806] Chr5:22149..23607053 [GRCh38]
Chr5:22149..23607162 [GRCh37]
Chr5:75149..23642919 [NCBI36]
Chr5:5p15.33-14.2		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1 copy number loss See cases [RCV000138888] Chr5:22149..35831538 [GRCh38]
Chr5:22149..35831640 [GRCh37]
Chr5:75149..35867397 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p15.2(chr5:11042340-14796203)x1 copy number loss See cases [RCV000138238] Chr5:11042340..14796203 [GRCh38]
Chr5:11042452..14796312 [GRCh37]
Chr5:11095452..14849312 [NCBI36]
Chr5:5p15.2		 uncertain significance
GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1 copy number loss See cases [RCV000138553] Chr5:22149..21217120 [GRCh38]
Chr5:22149..21217229 [GRCh37]
Chr5:75149..21252986 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-17788697)x1 copy number loss See cases [RCV000138288] Chr5:22149..17788697 [GRCh38]
Chr5:22149..17788806 [GRCh37]
Chr5:75149..17824563 [NCBI36]
Chr5:5p15.33-15.1		 likely benign
GRCh38/hg38 5p15.33-14.1(chr5:22149-28589192)x1 copy number loss See cases [RCV000141225] Chr5:22149..28589192 [GRCh38]
Chr5:22149..28589299 [GRCh37]
Chr5:75149..28625056 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3 copy number gain See cases [RCV000141246] Chr5:4849498..36818719 [GRCh38]
Chr5:4849611..36818821 [GRCh37]
Chr5:4902611..36854578 [NCBI36]
Chr5:5p15.32-13.2		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:22149-16930016)x1 copy number loss See cases [RCV000140964] Chr5:22149..16930016 [GRCh38]
Chr5:22149..16930125 [GRCh37]
Chr5:75149..16983125 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
GRCh38/hg38 5p15.33-13.2(chr5:113461-33998289)x1 copy number loss See cases [RCV000141844] Chr5:113461..33998289 [GRCh38]
Chr5:113576..33998394 [GRCh37]
Chr5:166576..34034151 [NCBI36]
Chr5:5p15.33-13.2		 pathogenic
GRCh38/hg38 5p15.32-14.3(chr5:4932707-18465361)x1 copy number loss See cases [RCV000141795] Chr5:4932707..18465361 [GRCh38]
Chr5:4932820..18465470 [GRCh37]
Chr5:4985820..18501227 [NCBI36]
Chr5:5p15.32-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.3(chr5:22149-21726360)x1 copy number loss See cases [RCV000143022] Chr5:22149..21726360 [GRCh38]
Chr5:22149..21726469 [GRCh37]
Chr5:75149..21762226 [NCBI36]
Chr5:5p15.33-14.3		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-27611163)x1 copy number loss See cases [RCV000142934] Chr5:22149..27611163 [GRCh38]
Chr5:22149..27611270 [GRCh37]
Chr5:75149..27647027 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-14.1(chr5:22149-26593891)x1 copy number loss See cases [RCV000142645] Chr5:22149..26593891 [GRCh38]
Chr5:22149..26594000 [GRCh37]
Chr5:75149..26629757 [NCBI36]
Chr5:5p15.33-14.1		 pathogenic
GRCh38/hg38 5p15.33-15.1(chr5:49978-15678451)x1 copy number loss See cases [RCV000148250] Chr5:49978..15678451 [GRCh38]
Chr5:50093..15678560 [GRCh37]
Chr5:103093..15731560 [NCBI36]
Chr5:5p15.33-15.1		 pathogenic
NM_054027.6(ANKH):c.846A>G (p.Thr282=) single nucleotide variant not provided [RCV000179992] Chr5:14745939 [GRCh38]
Chr5:14746048 [GRCh37]
Chr5:5p15.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_054027.6(ANKH):c.1141+5A>G single nucleotide variant Chondrocalcinosis 2 [RCV001157061]|Craniometaphyseal dysplasia, autosomal dominant [RCV001157062]|not provided [RCV000180696] Chr5:14716701 [GRCh38]
Chr5:14716810 [GRCh37]
Chr5:5p15.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_054027.6(ANKH):c.*6163A>G single nucleotide variant Chondrocalcinosis 2 [RCV000264521]|Craniometaphyseal dysplasia, autosomal dominant [RCV000361612] Chr5:14705034 [GRCh38]
Chr5:14705143 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*52G>A single nucleotide variant Chondrocalcinosis 2 [RCV000353644]|Craniometaphyseal dysplasia, autosomal dominant [RCV000261041] Chr5:14711145 [GRCh38]
Chr5:14711254 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*4958T>C single nucleotide variant Chondrocalcinosis 2 [RCV000261326]|Craniometaphyseal dysplasia, autosomal dominant [RCV000368082] Chr5:14706239 [GRCh38]
Chr5:14706348 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_054027.6(ANKH):c.*2243C>T single nucleotide variant Chondrocalcinosis 2 [RCV000264898]|Craniometaphyseal dysplasia, autosomal dominant [RCV000306084] Chr5:14708954 [GRCh38]
Chr5:14709063 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.*4672G>A single nucleotide variant Chondrocalcinosis 2 [RCV000262397]|Craniometaphyseal dysplasia, autosomal dominant [RCV000322226] Chr5:14706525 [GRCh38]
Chr5:14706634 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.294C>T (p.Ala98=) single nucleotide variant Chondrocalcinosis 2 [RCV000355854]|Craniometaphyseal dysplasia, autosomal dominant [RCV000263336]|not provided [RCV001519775] Chr5:14768994 [GRCh38]
Chr5:14769103 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*5662C>T single nucleotide variant Chondrocalcinosis 2 [RCV000374425]|Craniometaphyseal dysplasia, autosomal dominant [RCV000263448] Chr5:14705535 [GRCh38]
Chr5:14705644 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*2714T>C single nucleotide variant Chondrocalcinosis 2 [RCV000300835]|Craniometaphyseal dysplasia, autosomal dominant [RCV000259676] Chr5:14708483 [GRCh38]
Chr5:14708592 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*1626G>A single nucleotide variant Chondrocalcinosis 2 [RCV000259611]|Craniometaphyseal dysplasia, autosomal dominant [RCV000317151] Chr5:14709571 [GRCh38]
Chr5:14709680 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:79146-15509107)x1 copy number loss See cases [RCV000240157] Chr5:79146..15509107 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr) single nucleotide variant ANKH-related disorder [RCV004535297]|Chondrocalcinosis 2 [RCV000274472]|Chondrocalcinosis 2 [RCV002502107]|Craniometaphyseal dysplasia, autosomal dominant [RCV000329530]|not provided [RCV000892388]|not specified [RCV000332264] Chr5:14713572 [GRCh38]
Chr5:14713681 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.102G>A (p.Leu34=) single nucleotide variant Chondrocalcinosis 2 [RCV000386092]|Craniometaphyseal dysplasia, autosomal dominant [RCV000275378]|not provided [RCV000710576]|not specified [RCV000374906] Chr5:14769186 [GRCh38]
Chr5:14769295 [GRCh37]
Chr5:5p15.2		 benign|likely benign
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-33493797)x1 copy number loss See cases [RCV000449075] Chr5:113576..33493797 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-19661628)x3 copy number gain not provided [RCV000234904] Chr5:25328..19661628 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041255)x3 copy number gain See cases [RCV000240016] Chr5:22149..34041255 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
NM_054027.6(ANKH):c.*580C>T single nucleotide variant Chondrocalcinosis 2 [RCV000335734]|Craniometaphyseal dysplasia, autosomal dominant [RCV000278369]|not provided [RCV004716322] Chr5:14710617 [GRCh38]
Chr5:14710726 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*3900del deletion Chondrocalcinosis [RCV000278653]|Craniometadiaphyseal dysplasia wormian bone type [RCV000373210] Chr5:14707297 [GRCh38]
Chr5:14707406 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*11G>A single nucleotide variant Chondrocalcinosis 2 [RCV000283538]|Craniometaphyseal dysplasia, autosomal dominant [RCV000322231] Chr5:14711186 [GRCh38]
Chr5:14711295 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*1948_*1949del deletion Chondrocalcinosis [RCV000392917]|Craniometadiaphyseal dysplasia wormian bone type [RCV000284867] Chr5:14709248..14709249 [GRCh38]
Chr5:14709357..14709358 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.*5459C>T single nucleotide variant Chondrocalcinosis 2 [RCV000377161]|Craniometaphyseal dysplasia, autosomal dominant [RCV000285053] Chr5:14705738 [GRCh38]
Chr5:14705847 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*3899T>C single nucleotide variant Chondrocalcinosis 2 [RCV000339868]|Craniometaphyseal dysplasia, autosomal dominant [RCV000284916] Chr5:14707298 [GRCh38]
Chr5:14707407 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.1012-11T>G single nucleotide variant Chondrocalcinosis 2 [RCV000285826]|Craniometaphyseal dysplasia, autosomal dominant [RCV000322075]|not provided [RCV001575205] Chr5:14716846 [GRCh38]
Chr5:14716955 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*5912del deletion Chondrocalcinosis [RCV000279222]|Craniometadiaphyseal dysplasia wormian bone type [RCV000402881]|not provided [RCV004695840] Chr5:14705285 [GRCh38]
Chr5:14705394 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2107A>G single nucleotide variant Chondrocalcinosis 2 [RCV000338750]|Craniometaphyseal dysplasia, autosomal dominant [RCV000281330]|not provided [RCV004716320] Chr5:14709090 [GRCh38]
Chr5:14709199 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*561C>T single nucleotide variant Chondrocalcinosis 2 [RCV000281962]|Craniometaphyseal dysplasia, autosomal dominant [RCV000374139]|not provided [RCV004717543] Chr5:14710636 [GRCh38]
Chr5:14710745 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*1370C>G single nucleotide variant Chondrocalcinosis 2 [RCV000374210]|Craniometaphyseal dysplasia, autosomal dominant [RCV000282052] Chr5:14709827 [GRCh38]
Chr5:14709936 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2699G>C single nucleotide variant Chondrocalcinosis 2 [RCV000355762]|Craniometaphyseal dysplasia, autosomal dominant [RCV000265678]|not provided [RCV003430902] Chr5:14708498 [GRCh38]
Chr5:14708607 [GRCh37]
Chr5:5p15.2		 benign|uncertain significance
NM_054027.6(ANKH):c.*4624A>C single nucleotide variant Chondrocalcinosis 2 [RCV000268281]|Craniometaphyseal dysplasia, autosomal dominant [RCV000376779] Chr5:14706573 [GRCh38]
Chr5:14706682 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*3548G>A single nucleotide variant Chondrocalcinosis 2 [RCV000378027]|Craniometaphyseal dysplasia, autosomal dominant [RCV000283447] Chr5:14707649 [GRCh38]
Chr5:14707758 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*5725G>T single nucleotide variant Chondrocalcinosis 2 [RCV000331330]|Craniometaphyseal dysplasia, autosomal dominant [RCV000273975] Chr5:14705472 [GRCh38]
Chr5:14705581 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_054027.6(ANKH):c.*3628T>C single nucleotide variant Chondrocalcinosis 2 [RCV000274519]|Craniometaphyseal dysplasia, autosomal dominant [RCV000329650]|not provided [RCV004716318] Chr5:14707569 [GRCh38]
Chr5:14707678 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*706C>T single nucleotide variant Chondrocalcinosis 2 [RCV000270463]|Craniometaphyseal dysplasia, autosomal dominant [RCV000327851] Chr5:14710491 [GRCh38]
Chr5:14710600 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*925T>C single nucleotide variant Chondrocalcinosis 2 [RCV000380448]|Craniometaphyseal dysplasia, autosomal dominant [RCV000269535] Chr5:14710272 [GRCh38]
Chr5:14710381 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*5895C>A single nucleotide variant Chondrocalcinosis 2 [RCV000270691]|Craniometaphyseal dysplasia, autosomal dominant [RCV000362953] Chr5:14705302 [GRCh38]
Chr5:14705411 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*1711C>A single nucleotide variant Chondrocalcinosis 2 [RCV000275284]|Craniometaphyseal dysplasia, autosomal dominant [RCV000367534] Chr5:14709486 [GRCh38]
Chr5:14709595 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln) single nucleotide variant Chondrocalcinosis 2 [RCV000270760]|Craniometaphyseal dysplasia, autosomal dominant [RCV000365347]|Inborn genetic diseases [RCV004021989]|not provided [RCV002520332] Chr5:14716732 [GRCh38]
Chr5:14716841 [GRCh37]
Chr5:5p15.2		 benign|likely benign|uncertain significance
NM_054027.6(ANKH):c.*2243C>G single nucleotide variant Chondrocalcinosis [RCV000270803]|Craniometadiaphyseal dysplasia wormian bone type [RCV000360688] Chr5:14708954 [GRCh38]
Chr5:14709063 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1389G>A (p.Ser463=) single nucleotide variant not provided [RCV001564108] Chr5:14711287 [GRCh38]
Chr5:14711396 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.-80GTCGCCCC[1] microsatellite Chondrocalcinosis [RCV000270060]|Craniometadiaphyseal dysplasia wormian bone type [RCV000362286]|Craniometaphyseal dysplasia, autosomal dominant [RCV002253386]|not provided [RCV001597116] Chr5:14871512..14871519 [GRCh38]
Chr5:14871621..14871628 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.963A>G (p.Ala321=) single nucleotide variant Chondrocalcinosis 2 [RCV000363328]|Craniometaphyseal dysplasia, autosomal dominant [RCV000268651]|not provided [RCV001518091] Chr5:14741875 [GRCh38]
Chr5:14741984 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.-4G>A single nucleotide variant Chondrocalcinosis 2 [RCV000275449]|Craniometaphyseal dysplasia, autosomal dominant [RCV000309955]|not provided [RCV001510110] Chr5:14871451 [GRCh38]
Chr5:14871560 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*283C>T single nucleotide variant Chondrocalcinosis 2 [RCV000333525]|Craniometaphyseal dysplasia, autosomal dominant [RCV000276061]|not provided [RCV004716324] Chr5:14710914 [GRCh38]
Chr5:14711023 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*2200T>C single nucleotide variant Chondrocalcinosis 2 [RCV000331917]|Craniometaphyseal dysplasia, autosomal dominant [RCV000272117] Chr5:14708997 [GRCh38]
Chr5:14709106 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.258C>T (p.Ala86=) single nucleotide variant Chondrocalcinosis 2 [RCV000276410]|Craniometaphyseal dysplasia, autosomal dominant [RCV000333914]|not provided [RCV000946835] Chr5:14769030 [GRCh38]
Chr5:14769139 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*3627G>A single nucleotide variant Chondrocalcinosis 2 [RCV000370309]|Craniometaphyseal dysplasia, autosomal dominant [RCV000276710] Chr5:14707570 [GRCh38]
Chr5:14707679 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*3962T>C single nucleotide variant Chondrocalcinosis 2 [RCV000272512]|Craniometaphyseal dysplasia, autosomal dominant [RCV000362434] Chr5:14707235 [GRCh38]
Chr5:14707344 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*405G>A single nucleotide variant Chondrocalcinosis 2 [RCV000364837]|Craniometaphyseal dysplasia, autosomal dominant [RCV000272697] Chr5:14710792 [GRCh38]
Chr5:14710901 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_054027.6(ANKH):c.*4103G>A single nucleotide variant Chondrocalcinosis 2 [RCV000266706]|Craniometaphyseal dysplasia, autosomal dominant [RCV000326418] Chr5:14707094 [GRCh38]
Chr5:14707203 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_054027.6(ANKH):c.*724A>C single nucleotide variant Chondrocalcinosis 2 [RCV000359623]|Craniometaphyseal dysplasia, autosomal dominant [RCV000267288] Chr5:14710473 [GRCh38]
Chr5:14710582 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*2392G>T single nucleotide variant Chondrocalcinosis 2 [RCV000403376]|Craniometaphyseal dysplasia, autosomal dominant [RCV000298856] Chr5:14708805 [GRCh38]
Chr5:14708914 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.1278G>A (p.Ala426=) single nucleotide variant Chondrocalcinosis 2 [RCV000299266]|Craniometaphyseal dysplasia, autosomal dominant [RCV000390741]|not provided [RCV002520331] Chr5:14712961 [GRCh38]
Chr5:14713070 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*793A>G single nucleotide variant Chondrocalcinosis 2 [RCV000299046]|Craniometaphyseal dysplasia, autosomal dominant [RCV000337697] Chr5:14710404 [GRCh38]
Chr5:14710513 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2770C>T single nucleotide variant Chondrocalcinosis 2 [RCV000313537]|Craniometaphyseal dysplasia, autosomal dominant [RCV000354411] Chr5:14708427 [GRCh38]
Chr5:14708536 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*5768T>C single nucleotide variant Chondrocalcinosis 2 [RCV000313975]|Craniometaphyseal dysplasia, autosomal dominant [RCV000371017] Chr5:14705429 [GRCh38]
Chr5:14705538 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*4244T>A single nucleotide variant Chondrocalcinosis 2 [RCV000313752]|Craniometaphyseal dysplasia, autosomal dominant [RCV000336017] Chr5:14706953 [GRCh38]
Chr5:14707062 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.1265+6T>C single nucleotide variant Chondrocalcinosis 2 [RCV000314349]|Craniometaphyseal dysplasia, autosomal dominant [RCV000369050]|not provided [RCV000880142] Chr5:14713538 [GRCh38]
Chr5:14713647 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*831T>C single nucleotide variant Chondrocalcinosis 2 [RCV000407962]|Craniometaphyseal dysplasia, autosomal dominant [RCV000352857]|not provided [RCV002263628] Chr5:14710366 [GRCh38]
Chr5:14710475 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*4219T>C single nucleotide variant Chondrocalcinosis 2 [RCV000404750]|Craniometaphyseal dysplasia, autosomal dominant [RCV000300895]|not provided [RCV004716316] Chr5:14706978 [GRCh38]
Chr5:14707087 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.39G>C (p.Leu13=) single nucleotide variant Chondrocalcinosis 2 [RCV000367639]|Craniometaphyseal dysplasia, autosomal dominant [RCV000315385]|not provided [RCV002061263] Chr5:14871409 [GRCh38]
Chr5:14871518 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_054027.6(ANKH):c.*2113del deletion Chondrocalcinosis [RCV000335338]|Craniometadiaphyseal dysplasia wormian bone type [RCV000373602]|not provided [RCV004695841] Chr5:14709084 [GRCh38]
Chr5:14709193 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1272C>T (p.His424=) single nucleotide variant ANKH-related disorder [RCV004544658]|Chondrocalcinosis 2 [RCV000402628]|Craniometaphyseal dysplasia, autosomal dominant [RCV000354096]|not provided [RCV001515043] Chr5:14712967 [GRCh38]
Chr5:14713076 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*4182T>G single nucleotide variant Chondrocalcinosis 2 [RCV000394252]|Craniometaphyseal dysplasia, autosomal dominant [RCV000355268] Chr5:14707015 [GRCh38]
Chr5:14707124 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*6386G>C single nucleotide variant Chondrocalcinosis 2 [RCV000301230]|Craniometaphyseal dysplasia, autosomal dominant [RCV000353707] Chr5:14704811 [GRCh38]
Chr5:14704920 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.688-14G>A single nucleotide variant Chondrocalcinosis 2 [RCV000393104]|Chondrocalcinosis 2 [RCV002488774]|Craniometaphyseal dysplasia, autosomal dominant [RCV000302254]|not provided [RCV001672652] Chr5:14749320 [GRCh38]
Chr5:14749429 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*5641A>G single nucleotide variant Chondrocalcinosis 2 [RCV000316642]|Craniometaphyseal dysplasia, autosomal dominant [RCV000373631]|not provided [RCV004716315] Chr5:14705556 [GRCh38]
Chr5:14705665 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*3616C>T single nucleotide variant Chondrocalcinosis 2 [RCV000372377]|Craniometaphyseal dysplasia, autosomal dominant [RCV000317748]|not provided [RCV003437120] Chr5:14707581 [GRCh38]
Chr5:14707690 [GRCh37]
Chr5:5p15.2		 benign|uncertain significance
NM_054027.6(ANKH):c.*31A>G single nucleotide variant Chondrocalcinosis 2 [RCV000375465]|Craniometaphyseal dysplasia, autosomal dominant [RCV000318528]|not provided [RCV001707673] Chr5:14711166 [GRCh38]
Chr5:14711275 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.1453G>A (p.Val485Met) single nucleotide variant Chondrocalcinosis 2 [RCV000287068]|Craniometaphyseal dysplasia, autosomal dominant [RCV000379081]|not provided [RCV000971505] Chr5:14711223 [GRCh38]
Chr5:14711332 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*1271A>C single nucleotide variant Chondrocalcinosis 2 [RCV000407229]|Craniometaphyseal dysplasia, autosomal dominant [RCV000289075]|not provided [RCV004716321] Chr5:14709926 [GRCh38]
Chr5:14710035 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*3386G>A single nucleotide variant Chondrocalcinosis 2 [RCV000344201]|Craniometaphyseal dysplasia, autosomal dominant [RCV000289186] Chr5:14707811 [GRCh38]
Chr5:14707920 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*433G>A single nucleotide variant Chondrocalcinosis 2 [RCV000342392]|Craniometaphyseal dysplasia, autosomal dominant [RCV000303940] Chr5:14710764 [GRCh38]
Chr5:14710873 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.313+9G>A single nucleotide variant Chondrocalcinosis 2 [RCV000391136]|Craniometaphyseal dysplasia, autosomal dominant [RCV000303775]|not provided [RCV001512356] Chr5:14768966 [GRCh38]
Chr5:14769075 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*3900T>C single nucleotide variant Chondrocalcinosis 2 [RCV000338415]|Craniometaphyseal dysplasia, autosomal dominant [RCV000392646] Chr5:14707297 [GRCh38]
Chr5:14707406 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*510C>T single nucleotide variant Chondrocalcinosis 2 [RCV000393498]|Craniometaphyseal dysplasia, autosomal dominant [RCV000339381]|not provided [RCV004716323] Chr5:14710687 [GRCh38]
Chr5:14710796 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*4268C>A single nucleotide variant Chondrocalcinosis 2 [RCV000288088]|Craniometaphyseal dysplasia, autosomal dominant [RCV000347781] Chr5:14706929 [GRCh38]
Chr5:14707038 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*3706G>A single nucleotide variant Chondrocalcinosis 2 [RCV000304823]|Craniometaphyseal dysplasia, autosomal dominant [RCV000405711]|not provided [RCV004717542] Chr5:14707491 [GRCh38]
Chr5:14707600 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.313+12G>A single nucleotide variant Chondrocalcinosis 2 [RCV000343491]|Craniometaphyseal dysplasia, autosomal dominant [RCV000305038] Chr5:14768963 [GRCh38]
Chr5:14769072 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1008C>G single nucleotide variant Chondrocalcinosis 2 [RCV000319935]|Craniometaphyseal dysplasia, autosomal dominant [RCV000358330] Chr5:14710189 [GRCh38]
Chr5:14710298 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.1332C>T (p.Val444=) single nucleotide variant Chondrocalcinosis 2 [RCV000290749]|Craniometaphyseal dysplasia, autosomal dominant [RCV000348071]|not provided [RCV001518896] Chr5:14712907 [GRCh38]
Chr5:14713016 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*2543G>C single nucleotide variant Chondrocalcinosis 2 [RCV000381102]|Craniometaphyseal dysplasia, autosomal dominant [RCV000291364] Chr5:14708654 [GRCh38]
Chr5:14708763 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*712G>C single nucleotide variant Chondrocalcinosis 2 [RCV000305822]|Craniometaphyseal dysplasia, autosomal dominant [RCV000362890] Chr5:14710485 [GRCh38]
Chr5:14710594 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*6129G>A single nucleotide variant Chondrocalcinosis 2 [RCV000365064]|Craniometaphyseal dysplasia, autosomal dominant [RCV000322106] Chr5:14705068 [GRCh38]
Chr5:14705177 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*914A>C single nucleotide variant Chondrocalcinosis 2 [RCV000349289]|Craniometaphyseal dysplasia, autosomal dominant [RCV000292049] Chr5:14710283 [GRCh38]
Chr5:14710392 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.405C>T (p.Leu135=) single nucleotide variant Chondrocalcinosis 2 [RCV000292066]|Craniometaphyseal dysplasia, autosomal dominant [RCV000399902]|not provided [RCV000892548] Chr5:14758507 [GRCh38]
Chr5:14758616 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*4513G>A single nucleotide variant Chondrocalcinosis 2 [RCV000323177]|Craniometaphyseal dysplasia, autosomal dominant [RCV000382423] Chr5:14706684 [GRCh38]
Chr5:14706793 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*5136del deletion Chondrocalcinosis [RCV000350574]|Craniometadiaphyseal dysplasia wormian bone type [RCV000307449] Chr5:14706061 [GRCh38]
Chr5:14706170 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.*3420T>C single nucleotide variant Chondrocalcinosis 2 [RCV000343266]|Craniometaphyseal dysplasia, autosomal dominant [RCV000407172]|not provided [RCV004716319] Chr5:14707777 [GRCh38]
Chr5:14707886 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*3698T>A single nucleotide variant Chondrocalcinosis 2 [RCV000398245]|Craniometaphyseal dysplasia, autosomal dominant [RCV000364340] Chr5:14707499 [GRCh38]
Chr5:14707608 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*4251T>C single nucleotide variant Chondrocalcinosis 2 [RCV000383427]|Craniometaphyseal dysplasia, autosomal dominant [RCV000293691] Chr5:14706946 [GRCh38]
Chr5:14707055 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) single nucleotide variant ANKH-related disorder [RCV004530419]|Chondrocalcinosis 2 [RCV000308069]|Craniometaphyseal dysplasia, autosomal dominant [RCV000362880]|not provided [RCV000971746]|not specified [RCV000596120] Chr5:14751196 [GRCh38]
Chr5:14751305 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.1011+15T>G single nucleotide variant Chondrocalcinosis 2 [RCV000308680]|Craniometaphyseal dysplasia, autosomal dominant [RCV000406171]|not provided [RCV001653686] Chr5:14741812 [GRCh38]
Chr5:14741921 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*2236G>A single nucleotide variant Chondrocalcinosis 2 [RCV000325982]|Craniometaphyseal dysplasia, autosomal dominant [RCV000385143] Chr5:14708961 [GRCh38]
Chr5:14709070 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_054027.6(ANKH):c.1338C>T (p.Ile446=) single nucleotide variant ANKH-related disorder [RCV004544657]|Chondrocalcinosis 2 [RCV000406760]|Chondrocalcinosis 2 [RCV002502354]|Craniometaphyseal dysplasia, autosomal dominant [RCV000344499]|not provided [RCV001591014] Chr5:14712901 [GRCh38]
Chr5:14713010 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.314-13C>T single nucleotide variant Chondrocalcinosis 2 [RCV000344679]|Craniometaphyseal dysplasia, autosomal dominant [RCV000391329]|not provided [RCV001564551] Chr5:14758611 [GRCh38]
Chr5:14758720 [GRCh37]
Chr5:5p15.2		 benign|likely benign|uncertain significance
NM_054027.6(ANKH):c.*840G>C single nucleotide variant Chondrocalcinosis 2 [RCV000387535]|Craniometaphyseal dysplasia, autosomal dominant [RCV000294478]|not provided [RCV002263627] Chr5:14710357 [GRCh38]
Chr5:14710466 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*3336_*3339del deletion Chondrocalcinosis [RCV000390662]|Craniometadiaphyseal dysplasia wormian bone type [RCV000309291] Chr5:14707858..14707861 [GRCh38]
Chr5:14707967..14707970 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.*2511C>T single nucleotide variant Chondrocalcinosis 2 [RCV000346188]|Craniometaphyseal dysplasia, autosomal dominant [RCV000386771] Chr5:14708686 [GRCh38]
Chr5:14708795 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*1270A>C single nucleotide variant Chondrocalcinosis 2 [RCV000346263]|Craniometaphyseal dysplasia, autosomal dominant [RCV000401925] Chr5:14709927 [GRCh38]
Chr5:14710036 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.585C>T (p.Leu195=) single nucleotide variant Chondrocalcinosis 2 [RCV000366313]|Craniometaphyseal dysplasia, autosomal dominant [RCV000406136]|not provided [RCV002061261] Chr5:14751171 [GRCh38]
Chr5:14751280 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_054027.6(ANKH):c.*5895C>G single nucleotide variant Chondrocalcinosis 2 [RCV000398016]|Craniometaphyseal dysplasia, autosomal dominant [RCV000310062] Chr5:14705302 [GRCh38]
Chr5:14705411 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1814G>A single nucleotide variant Chondrocalcinosis 2 [RCV000310558]|Craniometaphyseal dysplasia, autosomal dominant [RCV000404728] Chr5:14709383 [GRCh38]
Chr5:14709492 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*5281del deletion Chondrocalcinosis [RCV000403232]|Craniometadiaphyseal dysplasia wormian bone type [RCV000346904] Chr5:14705916 [GRCh38]
Chr5:14706025 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.432+13G>A single nucleotide variant Chondrocalcinosis 2 [RCV000348326]|Craniometaphyseal dysplasia, autosomal dominant [RCV000295768]|not provided [RCV001584069] Chr5:14758467 [GRCh38]
Chr5:14758576 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*3928C>T single nucleotide variant Chondrocalcinosis 2 [RCV000332726]|Craniometaphyseal dysplasia, autosomal dominant [RCV000296492]|not provided [RCV004716317] Chr5:14707269 [GRCh38]
Chr5:14707378 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*5034del deletion Chondrocalcinosis [RCV000397259]|Craniometadiaphyseal dysplasia wormian bone type [RCV000311030]|not provided [RCV003430901] Chr5:14706163 [GRCh38]
Chr5:14706272 [GRCh37]
Chr5:5p15.2		 benign|uncertain significance
NM_054027.6(ANKH):c.*349A>G single nucleotide variant Chondrocalcinosis 2 [RCV000311266]|Craniometaphyseal dysplasia, autosomal dominant [RCV000368227] Chr5:14710848 [GRCh38]
Chr5:14710957 [GRCh37]
Chr5:5p15.2		 benign|uncertain significance
NM_054027.6(ANKH):c.*2974G>A single nucleotide variant Chondrocalcinosis [RCV000348637]|Craniometadiaphyseal dysplasia wormian bone type [RCV000405870] Chr5:14708223 [GRCh38]
Chr5:14708332 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.*4250T>C single nucleotide variant Chondrocalcinosis 2 [RCV000405546]|Craniometaphyseal dysplasia, autosomal dominant [RCV000348559] Chr5:14706947 [GRCh38]
Chr5:14707056 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2119C>T single nucleotide variant Chondrocalcinosis 2 [RCV000388804]|Craniometaphyseal dysplasia, autosomal dominant [RCV000296748] Chr5:14709078 [GRCh38]
Chr5:14709187 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.681G>A (p.Glu227=) single nucleotide variant Chondrocalcinosis 2 [RCV000408154]|Craniometaphyseal dysplasia, autosomal dominant [RCV000311571]|not provided [RCV000906702] Chr5:14751075 [GRCh38]
Chr5:14751184 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*6012T>C single nucleotide variant Chondrocalcinosis 2 [RCV000330144]|Craniometaphyseal dysplasia, autosomal dominant [RCV000386964]|not provided [RCV003430900] Chr5:14705185 [GRCh38]
Chr5:14705294 [GRCh37]
Chr5:5p15.2		 benign|likely benign|uncertain significance
NM_054027.6(ANKH):c.288C>T (p.Ile96=) single nucleotide variant ANKH-related disorder [RCV004530420]|Chondrocalcinosis 2 [RCV000354709]|Craniometaphyseal dysplasia, autosomal dominant [RCV000297542]|not provided [RCV000896426] Chr5:14769000 [GRCh38]
Chr5:14769109 [GRCh37]
Chr5:5p15.2		 benign|likely benign|uncertain significance
NM_054027.6(ANKH):c.*3928_*3929del deletion Chondrocalcinosis [RCV000331602]|Craniometadiaphyseal dysplasia wormian bone type [RCV000386125] Chr5:14707268..14707269 [GRCh38]
Chr5:14707377..14707378 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*939_*942dup duplication Chondrocalcinosis [RCV000265861]|Craniometadiaphyseal dysplasia wormian bone type [RCV000323315] Chr5:14710254..14710255 [GRCh38]
Chr5:14710363..14710364 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*695_*698dup duplication Chondrocalcinosis [RCV000384980]|Craniometadiaphyseal dysplasia wormian bone type [RCV000274179] Chr5:14710498..14710499 [GRCh38]
Chr5:14710607..14710608 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.-128_-80delinsCGC indel Chondrocalcinosis [RCV000373892]|Craniometadiaphyseal dysplasia wormian bone type [RCV000281936] Chr5:14871527..14871575 [GRCh38]
Chr5:14871636..14871684 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*5912dup duplication Chondrocalcinosis [RCV000338249]|Craniometadiaphyseal dysplasia wormian bone type [RCV000280826] Chr5:14705284..14705285 [GRCh38]
Chr5:14705393..14705394 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*3559G>C single nucleotide variant Chondrocalcinosis 2 [RCV000282451]|Craniometaphyseal dysplasia, autosomal dominant [RCV000318842] Chr5:14707638 [GRCh38]
Chr5:14707747 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.-291CCG[9] microsatellite Chondrocalcinosis [RCV000407554]|Craniometadiaphyseal dysplasia wormian bone type [RCV000293837] Chr5:14871717..14871718 [GRCh38]
Chr5:14871826..14871827 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.-291CCG[8] microsatellite Chondrocalcinosis [RCV000352183]|Craniometadiaphyseal dysplasia wormian bone type [RCV000294856]|not provided [RCV003437121] Chr5:14871717..14871718 [GRCh38]
Chr5:14871826..14871827 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.*1887dup duplication Chondrocalcinosis [RCV000364087]|Craniometadiaphyseal dysplasia wormian bone type [RCV000307041] Chr5:14709309..14709310 [GRCh38]
Chr5:14709418..14709419 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.*416_*419dup duplication Chondrocalcinosis [RCV000307966]|Craniometadiaphyseal dysplasia wormian bone type [RCV000403312] Chr5:14710777..14710778 [GRCh38]
Chr5:14710886..14710887 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.*1058C>T single nucleotide variant Chondrocalcinosis 2 [RCV000262142]|Craniometaphyseal dysplasia, autosomal dominant [RCV000354875] Chr5:14710139 [GRCh38]
Chr5:14710248 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2301dup duplication Chondrocalcinosis [RCV000334888]|Craniometadiaphyseal dysplasia wormian bone type [RCV000403694] Chr5:14708895..14708896 [GRCh38]
Chr5:14709004..14709005 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*1893dup duplication Chondrocalcinosis [RCV000405624]|Craniometadiaphyseal dysplasia wormian bone type [RCV000342015] Chr5:14709303..14709304 [GRCh38]
Chr5:14709412..14709413 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.-89_-80delinsTC indel Chondrocalcinosis [RCV000264149]|Craniometadiaphyseal dysplasia wormian bone type [RCV000321585] Chr5:14871527..14871536 [GRCh38]
Chr5:14871636..14871645 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2644G>C single nucleotide variant Chondrocalcinosis 2 [RCV000326489]|Craniometaphyseal dysplasia, autosomal dominant [RCV000266776] Chr5:14708553 [GRCh38]
Chr5:14708662 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.27C>T (p.His9=) single nucleotide variant not provided [RCV000399069] Chr5:14871421 [GRCh38]
Chr5:14871530 [GRCh37]
Chr5:5p15.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_054027.6(ANKH):c.*6041T>C single nucleotide variant Chondrocalcinosis 2 [RCV000269086]|Craniometaphyseal dysplasia, autosomal dominant [RCV000326573] Chr5:14705156 [GRCh38]
Chr5:14705265 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.830C>T (p.Ala277Val) single nucleotide variant Chondrocalcinosis 2 [RCV001270428] Chr5:14745955 [GRCh38]
Chr5:14746064 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*781T>A single nucleotide variant Chondrocalcinosis 2 [RCV000302432]|Craniometaphyseal dysplasia, autosomal dominant [RCV000402735] Chr5:14710416 [GRCh38]
Chr5:14710525 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*643T>C single nucleotide variant Chondrocalcinosis 2 [RCV000388389]|Craniometaphyseal dysplasia, autosomal dominant [RCV000331513] Chr5:14710554 [GRCh38]
Chr5:14710663 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.-291CCG[6] microsatellite Chondrocalcinosis [RCV000346435]|Craniometadiaphyseal dysplasia wormian bone type [RCV000406131]|not provided [RCV004695843] Chr5:14871718..14871720 [GRCh38]
Chr5:14871827..14871829 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2428G>C single nucleotide variant Chondrocalcinosis 2 [RCV000292914]|Craniometaphyseal dysplasia, autosomal dominant [RCV000352450] Chr5:14708769 [GRCh38]
Chr5:14708878 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*6205G>A single nucleotide variant Chondrocalcinosis 2 [RCV000304693]|Craniometaphyseal dysplasia, autosomal dominant [RCV000394198] Chr5:14704992 [GRCh38]
Chr5:14705101 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1668A>C single nucleotide variant Chondrocalcinosis 2 [RCV000332305]|Craniometaphyseal dysplasia, autosomal dominant [RCV000370657] Chr5:14709529 [GRCh38]
Chr5:14709638 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.-87T>A single nucleotide variant Chondrocalcinosis 2 [RCV000334688]|Craniometaphyseal dysplasia, autosomal dominant [RCV000372856] Chr5:14871534 [GRCh38]
Chr5:14871643 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2694T>C single nucleotide variant Chondrocalcinosis 2 [RCV000320241]|Craniometaphyseal dysplasia, autosomal dominant [RCV000379580] Chr5:14708503 [GRCh38]
Chr5:14708612 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*6034A>C single nucleotide variant Chondrocalcinosis 2 [RCV000295955]|Craniometaphyseal dysplasia, autosomal dominant [RCV000388126] Chr5:14705163 [GRCh38]
Chr5:14705272 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1354A>G single nucleotide variant Chondrocalcinosis 2 [RCV000320771]|Craniometaphyseal dysplasia, autosomal dominant [RCV000377745] Chr5:14709843 [GRCh38]
Chr5:14709952 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1318ATTT[1] microsatellite Chondrocalcinosis [RCV000342917]|Craniometadiaphyseal dysplasia wormian bone type [RCV000285656] Chr5:14709872..14709875 [GRCh38]
Chr5:14709981..14709984 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*5593G>C single nucleotide variant Chondrocalcinosis 2 [RCV000286022]|Craniometaphyseal dysplasia, autosomal dominant [RCV000343302] Chr5:14705604 [GRCh38]
Chr5:14705713 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1081C>T single nucleotide variant Chondrocalcinosis 2 [RCV000406640]|Craniometaphyseal dysplasia, autosomal dominant [RCV000297621] Chr5:14710116 [GRCh38]
Chr5:14710225 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*4704T>G single nucleotide variant Chondrocalcinosis 2 [RCV000357274]|Craniometaphyseal dysplasia, autosomal dominant [RCV000297777] Chr5:14706493 [GRCh38]
Chr5:14706602 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.-80_-79insC insertion Chondrocalcinosis [RCV000379550]|Craniometadiaphyseal dysplasia wormian bone type [RCV000322863] Chr5:14871526..14871527 [GRCh38]
Chr5:14871635..14871636 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.-291CCG[5] microsatellite Chondrocalcinosis [RCV000310258]|Craniometadiaphyseal dysplasia wormian bone type [RCV000364886] Chr5:14871718..14871723 [GRCh38]
Chr5:14871827..14871832 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*3664C>T single nucleotide variant Chondrocalcinosis 2 [RCV000365506]|Craniometaphyseal dysplasia, autosomal dominant [RCV000310881] Chr5:14707533 [GRCh38]
Chr5:14707642 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2301del deletion Chondrocalcinosis [RCV000299966]|Craniometadiaphyseal dysplasia wormian bone type [RCV000359395] Chr5:14708896 [GRCh38]
Chr5:14709005 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1211del deletion Chondrocalcinosis [RCV000311314]|Craniometadiaphyseal dysplasia wormian bone type [RCV000368291] Chr5:14709986 [GRCh38]
Chr5:14710095 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1071C>T (p.Ile357=) single nucleotide variant Chondrocalcinosis 2 [RCV000325874]|Craniometaphyseal dysplasia, autosomal dominant [RCV000380499] Chr5:14716776 [GRCh38]
Chr5:14716885 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*5912T>A single nucleotide variant Chondrocalcinosis 2 [RCV000341351]|Craniometaphyseal dysplasia, autosomal dominant [RCV000405888] Chr5:14705285 [GRCh38]
Chr5:14705394 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*921A>G single nucleotide variant Chondrocalcinosis 2 [RCV000383938]|Craniometaphyseal dysplasia, autosomal dominant [RCV000327034] Chr5:14710276 [GRCh38]
Chr5:14710385 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*4137G>C single nucleotide variant Chondrocalcinosis 2 [RCV000361076]|Craniometaphyseal dysplasia, autosomal dominant [RCV000301629] Chr5:14707060 [GRCh38]
Chr5:14707169 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*5898G>A single nucleotide variant Chondrocalcinosis 2 [RCV000358887]|Craniometaphyseal dysplasia, autosomal dominant [RCV000301684] Chr5:14705299 [GRCh38]
Chr5:14705408 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:140474-26906925) copy number loss 5p partial monosomy syndrome [RCV000767709] Chr5:140474..26906925 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_054027.6(ANKH):c.*5980C>A single nucleotide variant Chondrocalcinosis 2 [RCV001153608]|Craniometaphyseal dysplasia, autosomal dominant [RCV001152325] Chr5:14705217 [GRCh38]
Chr5:14705326 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*4351C>T single nucleotide variant Chondrocalcinosis 2 [RCV001152523]|Craniometaphyseal dysplasia, autosomal dominant [RCV001153800] Chr5:14706846 [GRCh38]
Chr5:14706955 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*3752G>A single nucleotide variant Chondrocalcinosis 2 [RCV001152635]|Craniometaphyseal dysplasia, autosomal dominant [RCV001152634]|not provided [RCV002264203] Chr5:14707445 [GRCh38]
Chr5:14707554 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1011+7A>T single nucleotide variant not provided [RCV000734781] Chr5:14741820 [GRCh38]
Chr5:14741929 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:113576-16854340)x1 copy number loss See cases [RCV000449097] Chr5:113576..16854340 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:3159498-30585683)x3 copy number gain See cases [RCV000449100] Chr5:3159498..30585683 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30279389)x3 copy number gain See cases [RCV000446077] Chr5:113576..30279389 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:22149-24835567)x1 copy number loss See cases [RCV000447672] Chr5:22149..24835567 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-34372083)x1 copy number loss See cases [RCV000446974] Chr5:113576..34372083 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-17334977)x1 copy number loss See cases [RCV000446645] Chr5:113576..17334977 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-27338567)x1 copy number loss See cases [RCV000446054] Chr5:113576..27338567 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25948451)x1 copy number loss See cases [RCV000447462] Chr5:113576..25948451 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.31-13.3(chr5:7806183-31019599)x1 copy number loss See cases [RCV000445859] Chr5:7806183..31019599 [GRCh37]
Chr5:5p15.31-13.3		 pathogenic
NM_054027.6(ANKH):c.922C>G (p.Pro308Ala) single nucleotide variant Intellectual disability [RCV001252405]|not provided [RCV000418882] Chr5:14741916 [GRCh38]
Chr5:14742025 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1042G>A (p.Val348Met) single nucleotide variant ANKH-related disorder [RCV004539815]|not provided [RCV000423469] Chr5:14716805 [GRCh38]
Chr5:14716914 [GRCh37]
Chr5:5p15.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 5p15.33-13.2(chr5:22149-34041196)x1 copy number loss See cases [RCV000448019] Chr5:22149..34041196 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-21786246)x1 copy number loss See cases [RCV000448521] Chr5:113576..21786246 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23147737)x1 copy number loss See cases [RCV000448408] Chr5:113576..23147737 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:79146-22152284)x1 copy number loss See cases [RCV000447737] Chr5:79146..22152284 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.31-14.2(chr5:9120813-24274030)x1 copy number loss See cases [RCV000448421] Chr5:9120813..24274030 [GRCh37]
Chr5:5p15.31-14.2		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-25091472)x1 copy number loss See cases [RCV000512066] Chr5:113576..25091472 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113576-26234903)x1 copy number loss See cases [RCV000510193] Chr5:113576..26234903 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15291661)x1 copy number loss See cases [RCV000511513] Chr5:113576..15291661 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.2-15.1(chr5:14808102-15402008) copy number gain See cases [RCV000510886] Chr5:14808102..15402008 [GRCh37]
Chr5:5p15.2-15.1		 uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:113576-26948599)x1 copy number loss See cases [RCV000510921] Chr5:113576..26948599 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-23047959)x1 copy number loss See cases [RCV000510786] Chr5:113576..23047959 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_054027.6(ANKH):c.1439A>T (p.Glu480Val) single nucleotide variant not provided [RCV000597688]|not specified [RCV003994040] Chr5:14711237 [GRCh38]
Chr5:14711346 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.2-15.1(chr5:14815358-15402008)x4 copy number gain See cases [RCV000512277] Chr5:14815358..15402008 [GRCh37]
Chr5:5p15.2-15.1		 likely benign
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 copy number gain See cases [RCV000512567] Chr5:113576..20240392 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1 copy number loss not provided [RCV000682514] Chr5:113576..15822225 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113576-19167699)x1 copy number loss not provided [RCV000682515] Chr5:113576..19167699 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3 copy number gain not provided [RCV000682516] Chr5:113576..35739404 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.32-14.3(chr5:5830053-19490899)x1 copy number loss not provided [RCV000682520] Chr5:5830053..19490899 [GRCh37]
Chr5:5p15.32-14.3		 pathogenic
GRCh37/hg19 5p15.2-15.1(chr5:10515035-17607385)x1 copy number loss not provided [RCV000682524] Chr5:10515035..17607385 [GRCh37]
Chr5:5p15.2-15.1		 pathogenic
GRCh37/hg19 5p15.2(chr5:13167440-14733954)x1 copy number loss not provided [RCV000682529] Chr5:13167440..14733954 [GRCh37]
Chr5:5p15.2		 likely pathogenic
NM_054027.6(ANKH):c.1280C>T (p.Thr427Ile) single nucleotide variant Intellectual disability [RCV001252404]|not provided [RCV003669216] Chr5:14712959 [GRCh38]
Chr5:14713068 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18662625)x1 copy number loss not provided [RCV000744320] Chr5:25328..18662625 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:25328-18698028)x3 copy number gain not provided [RCV000744321] Chr5:25328..18698028 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:25328-31343671)x1 copy number loss not provided [RCV000744322] Chr5:25328..31343671 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.2(chr5:14871559-14872659)x1 copy number loss not provided [RCV000744493] Chr5:14871559..14872659 [GRCh37]
Chr5:5p15.2		 benign
GRCh37/hg19 5p15.2(chr5:14871610-14872659)x1 copy number loss not provided [RCV000744494] Chr5:14871610..14872659 [GRCh37]
Chr5:5p15.2		 benign
GRCh37/hg19 5p15.2(chr5:14871610-14877474)x1 copy number loss not provided [RCV000744495] Chr5:14871610..14877474 [GRCh37]
Chr5:5p15.2		 benign
GRCh37/hg19 5p15.2(chr5:14871745-14877474)x1 copy number loss not provided [RCV000744496] Chr5:14871745..14877474 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.1266-263G>A single nucleotide variant not provided [RCV001581793] Chr5:14713236 [GRCh38]
Chr5:14713345 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.313+278C>T single nucleotide variant not provided [RCV001612339] Chr5:14768697 [GRCh38]
Chr5:14768806 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.1266-6C>T single nucleotide variant ANKH-related disorder [RCV004543451]|Craniometaphyseal dysplasia, autosomal dominant [RCV002253690]|not provided [RCV000919323] Chr5:14712979 [GRCh38]
Chr5:14713088 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.-17_-2dup duplication not provided [RCV001535166] Chr5:14871448..14871449 [GRCh38]
Chr5:14871557..14871558 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1012-93C>T single nucleotide variant not provided [RCV001569632] Chr5:14716928 [GRCh38]
Chr5:14717037 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1012-157G>T single nucleotide variant not provided [RCV001581009] Chr5:14716992 [GRCh38]
Chr5:14717101 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1265+198G>A single nucleotide variant not provided [RCV001566380] Chr5:14713346 [GRCh38]
Chr5:14713455 [GRCh37]
Chr5:5p15.2		 likely benign
NC_000005.10:g.14871813GCC[9] microsatellite not provided [RCV001549970] Chr5:14871811..14871812 [GRCh38]
Chr5:14871920..14871921 [GRCh37]
Chr5:5p15.2		 likely benign
NC_000005.10:g.14871813GCC[8] microsatellite not provided [RCV001679559] Chr5:14871811..14871812 [GRCh38]
Chr5:14871920..14871921 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.369G>A (p.Ser123=) single nucleotide variant ANKH-related disorder [RCV004533634]|Chondrocalcinosis 2 [RCV001157585]|Craniometaphyseal dysplasia, autosomal dominant [RCV001157586]|not provided [RCV000948694] Chr5:14758543 [GRCh38]
Chr5:14758652 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.1071C>A (p.Ile357=) single nucleotide variant not provided [RCV000942478] Chr5:14716776 [GRCh38]
Chr5:14716885 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1402_1403insT (p.Glu468fs) insertion ANKH-related disorder [RCV000779465] Chr5:14711273..14711274 [GRCh38]
Chr5:14711382..14711383 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.2-14.3(chr5:11182916-18624750)x3 copy number gain not provided [RCV000849007] Chr5:11182916..18624750 [GRCh37]
Chr5:5p15.2-14.3		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_054027.6(ANKH):c.1402G>T (p.Glu468Ter) single nucleotide variant not provided [RCV001090991] Chr5:14711274 [GRCh38]
Chr5:14711383 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1754G>A single nucleotide variant Chondrocalcinosis 2 [RCV001151165]|Craniometaphyseal dysplasia, autosomal dominant [RCV001151166] Chr5:14709443 [GRCh38]
Chr5:14709552 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1 copy number loss not provided [RCV001005642] Chr5:113576..23364376 [GRCh37]
Chr5:5p15.33-14.2		 pathogenic
GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1 copy number loss not provided [RCV001005643] Chr5:113576..14738180 [GRCh37]
Chr5:5p15.33-15.2		 pathogenic
NM_054027.6(ANKH):c.*1137A>C single nucleotide variant Chondrocalcinosis 2 [RCV001151290]|Craniometaphyseal dysplasia, autosomal dominant [RCV001151289] Chr5:14710060 [GRCh38]
Chr5:14710169 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*3224T>C single nucleotide variant Chondrocalcinosis 2 [RCV001154010]|Craniometaphyseal dysplasia, autosomal dominant [RCV001152736] Chr5:14707973 [GRCh38]
Chr5:14708082 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*6006A>T single nucleotide variant Chondrocalcinosis 2 [RCV001152324]|Craniometaphyseal dysplasia, autosomal dominant [RCV001152323] Chr5:14705191 [GRCh38]
Chr5:14705300 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*4610C>A single nucleotide variant Chondrocalcinosis 2 [RCV001152519]|Craniometaphyseal dysplasia, autosomal dominant [RCV001152520] Chr5:14706587 [GRCh38]
Chr5:14706696 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.155A>G (p.Tyr52Cys) single nucleotide variant not provided [RCV000998363] Chr5:14769133 [GRCh38]
Chr5:14769242 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969) copy number loss 5p partial monosomy syndrome [RCV001195139] Chr5:71904..22078969 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_054027.6(ANKH):c.915+14C>T single nucleotide variant Chondrocalcinosis 2 [RCV001152959]|Craniometaphyseal dysplasia, autosomal dominant [RCV001152958]|not provided [RCV002070862] Chr5:14745856 [GRCh38]
Chr5:14745965 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*6368G>A single nucleotide variant Chondrocalcinosis 2 [RCV001156111]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156112] Chr5:14704829 [GRCh38]
Chr5:14704938 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1490T>C single nucleotide variant Chondrocalcinosis 2 [RCV001154233]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154234] Chr5:14709707 [GRCh38]
Chr5:14709816 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1365+13C>T single nucleotide variant Chondrocalcinosis 2 [RCV001154537]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154536]|not provided [RCV003117788] Chr5:14712861 [GRCh38]
Chr5:14712970 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.1365+9G>A single nucleotide variant Chondrocalcinosis 2 [RCV001154538]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154539]|not provided [RCV002070892] Chr5:14712865 [GRCh38]
Chr5:14712974 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*5887G>C single nucleotide variant Chondrocalcinosis 2 [RCV001157900]|Craniometaphyseal dysplasia, autosomal dominant [RCV001157901] Chr5:14705310 [GRCh38]
Chr5:14705419 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1372C>A single nucleotide variant Chondrocalcinosis 2 [RCV001155077]|Craniometaphyseal dysplasia, autosomal dominant [RCV001155076] Chr5:14709825 [GRCh38]
Chr5:14709934 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1753C>T single nucleotide variant Chondrocalcinosis 2 [RCV001151167]|Craniometaphyseal dysplasia, autosomal dominant [RCV001151168] Chr5:14709444 [GRCh38]
Chr5:14709553 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*833T>C single nucleotide variant Chondrocalcinosis 2 [RCV001155184]|Craniometaphyseal dysplasia, autosomal dominant [RCV001155185] Chr5:14710364 [GRCh38]
Chr5:14710473 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1333G>A (p.Ala445Thr) single nucleotide variant not provided [RCV003107300] Chr5:14712906 [GRCh38]
Chr5:14713015 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1366-240T>C single nucleotide variant not provided [RCV001679091] Chr5:14711550 [GRCh38]
Chr5:14711659 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.1141+190TATT[8] microsatellite not provided [RCV001568686] Chr5:14716492..14716493 [GRCh38]
Chr5:14716601..14716602 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.517-240A>C single nucleotide variant not provided [RCV001674238] Chr5:14751479 [GRCh38]
Chr5:14751588 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.1287C>A (p.Gly429=) single nucleotide variant not provided [RCV001545574] Chr5:14712952 [GRCh38]
Chr5:14713061 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.823-279T>C single nucleotide variant not provided [RCV001696666] Chr5:14746241 [GRCh38]
Chr5:14746350 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.517-18C>G single nucleotide variant Craniometaphyseal dysplasia, autosomal dominant [RCV002253853]|not provided [RCV001564292] Chr5:14751257 [GRCh38]
Chr5:14751366 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.916-271A>G single nucleotide variant not provided [RCV001656396] Chr5:14742193 [GRCh38]
Chr5:14742302 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.314-118A>G single nucleotide variant not provided [RCV001575730] Chr5:14758716 [GRCh38]
Chr5:14758825 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1266-231G>A single nucleotide variant not provided [RCV001559456] Chr5:14713204 [GRCh38]
Chr5:14713313 [GRCh37]
Chr5:5p15.2		 likely benign
NC_000005.10:g.14871813GCC[11] microsatellite not provided [RCV001559707] Chr5:14871811..14871812 [GRCh38]
Chr5:14871920..14871921 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.987C>T (p.Phe329=) single nucleotide variant ANKH-related disorder [RCV004533682]|Craniometaphyseal dysplasia, autosomal dominant [RCV002253718]|not provided [RCV000955168] Chr5:14741851 [GRCh38]
Chr5:14741960 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.805A>C (p.Ser269Arg) single nucleotide variant not provided [RCV001760488] Chr5:14749189 [GRCh38]
Chr5:14749298 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.882G>A (p.Thr294=) single nucleotide variant not provided [RCV000933472] Chr5:14745903 [GRCh38]
Chr5:14746012 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.*1646A>G single nucleotide variant Chondrocalcinosis 2 [RCV001154231]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154232] Chr5:14709551 [GRCh38]
Chr5:14709660 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*4428T>C single nucleotide variant Chondrocalcinosis 2 [RCV001152521]|Craniometaphyseal dysplasia, autosomal dominant [RCV001152522]|not provided [RCV004717764] Chr5:14706769 [GRCh38]
Chr5:14706878 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*3509G>C single nucleotide variant Chondrocalcinosis 2 [RCV001152733]|Craniometaphyseal dysplasia, autosomal dominant [RCV001158212] Chr5:14707688 [GRCh38]
Chr5:14707797 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1894T>C single nucleotide variant Chondrocalcinosis 2 [RCV001156633]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156632] Chr5:14709303 [GRCh38]
Chr5:14709412 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1431G>A (p.Pro477=) single nucleotide variant ANKH-related disorder [RCV004536188]|not provided [RCV001561995] Chr5:14711245 [GRCh38]
Chr5:14711354 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1366-79G>A single nucleotide variant not provided [RCV001677916] Chr5:14711389 [GRCh38]
Chr5:14711498 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.1011+267G>A single nucleotide variant not provided [RCV001682018] Chr5:14741560 [GRCh38]
Chr5:14741669 [GRCh37]
Chr5:5p15.2		 benign
NC_000005.10:g.14871808G>T single nucleotide variant not provided [RCV001559957] Chr5:14871808 [GRCh38]
Chr5:14871917 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.822+55G>T single nucleotide variant Craniometaphyseal dysplasia, autosomal dominant [RCV002253851]|not provided [RCV001553527] Chr5:14749117 [GRCh38]
Chr5:14749226 [GRCh37]
Chr5:5p15.2		 benign|likely benign
GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1 copy number loss not provided [RCV002472712] Chr5:1..32091038 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_054027.6(ANKH):c.517-196C>G single nucleotide variant not provided [RCV001549942] Chr5:14751435 [GRCh38]
Chr5:14751544 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1011+109G>A single nucleotide variant not provided [RCV001549980] Chr5:14741718 [GRCh38]
Chr5:14741827 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.823-198A>G single nucleotide variant not provided [RCV001696038] Chr5:14746160 [GRCh38]
Chr5:14746269 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.822+153G>A single nucleotide variant not provided [RCV001637273] Chr5:14749019 [GRCh38]
Chr5:14749128 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.1141+190TATT[5] microsatellite not provided [RCV001720887] Chr5:14716493..14716496 [GRCh38]
Chr5:14716602..14716605 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.516+199T>G single nucleotide variant not provided [RCV001596227] Chr5:14755662 [GRCh38]
Chr5:14755771 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.688-155A>G single nucleotide variant not provided [RCV001676818] Chr5:14749461 [GRCh38]
Chr5:14749570 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.823-207A>C single nucleotide variant not provided [RCV001656798] Chr5:14746169 [GRCh38]
Chr5:14746278 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.1365+274T>A single nucleotide variant not provided [RCV001637940] Chr5:14712600 [GRCh38]
Chr5:14712709 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.688-186C>A single nucleotide variant not provided [RCV001673878] Chr5:14749492 [GRCh38]
Chr5:14749601 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.517-52A>G single nucleotide variant not provided [RCV001638529] Chr5:14751291 [GRCh38]
Chr5:14751400 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*2674C>G single nucleotide variant Chondrocalcinosis 2 [RCV001154863]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156533] Chr5:14708523 [GRCh38]
Chr5:14708632 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2017G>A single nucleotide variant Chondrocalcinosis 2 [RCV001154959]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154960] Chr5:14709180 [GRCh38]
Chr5:14709289 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1423G>A single nucleotide variant Chondrocalcinosis 2 [RCV001155074]|Craniometaphyseal dysplasia, autosomal dominant [RCV001155075] Chr5:14709774 [GRCh38]
Chr5:14709883 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*6235G>A single nucleotide variant Chondrocalcinosis 2 [RCV001156114]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156113] Chr5:14704962 [GRCh38]
Chr5:14705071 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*4982T>C single nucleotide variant Chondrocalcinosis 2 [RCV001156315]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156314] Chr5:14706215 [GRCh38]
Chr5:14706324 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*5899A>G single nucleotide variant Chondrocalcinosis 2 [RCV001156218]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156217] Chr5:14705298 [GRCh38]
Chr5:14705407 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*256G>A single nucleotide variant Chondrocalcinosis 2 [RCV001156941]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156940] Chr5:14710941 [GRCh38]
Chr5:14711050 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*4777C>A single nucleotide variant Chondrocalcinosis 2 [RCV001156318]|Craniometaphyseal dysplasia, autosomal dominant [RCV001157986] Chr5:14706420 [GRCh38]
Chr5:14706529 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*4635A>C single nucleotide variant Chondrocalcinosis 2 [RCV001157987]|Craniometaphyseal dysplasia, autosomal dominant [RCV001157988] Chr5:14706562 [GRCh38]
Chr5:14706671 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1000C>G (p.Leu334Val) single nucleotide variant Chondrocalcinosis 2 [RCV001151715]|Craniometaphyseal dysplasia, autosomal dominant [RCV001151716]|not provided [RCV002557273] Chr5:14741838 [GRCh38]
Chr5:14741947 [GRCh37]
Chr5:5p15.2		 benign|likely benign|uncertain significance
NM_054027.6(ANKH):c.*3554C>T single nucleotide variant Chondrocalcinosis 2 [RCV001158209]|Craniometaphyseal dysplasia, autosomal dominant [RCV001158208] Chr5:14707643 [GRCh38]
Chr5:14707752 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.600C>T (p.Gly200=) single nucleotide variant Chondrocalcinosis 2 [RCV001152016]|Craniometaphyseal dysplasia, autosomal dominant [RCV001152017]|not provided [RCV001503903] Chr5:14751156 [GRCh38]
Chr5:14751265 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_054027.6(ANKH):c.156C>T (p.Tyr52=) single nucleotide variant Chondrocalcinosis 2 [RCV001153394]|Craniometaphyseal dysplasia, autosomal dominant [RCV001153393] Chr5:14769132 [GRCh38]
Chr5:14769241 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*5900T>C single nucleotide variant Chondrocalcinosis 2 [RCV001156216]|Craniometaphyseal dysplasia, autosomal dominant [RCV001153613] Chr5:14705297 [GRCh38]
Chr5:14705406 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2262G>T single nucleotide variant Chondrocalcinosis 2 [RCV001154124]|Craniometaphyseal dysplasia, autosomal dominant [RCV001152849] Chr5:14708935 [GRCh38]
Chr5:14709044 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*3562G>T single nucleotide variant Chondrocalcinosis 2 [RCV001154762]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154763] Chr5:14707635 [GRCh38]
Chr5:14707744 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1451T>C single nucleotide variant Chondrocalcinosis 2 [RCV001155072]|Craniometaphyseal dysplasia, autosomal dominant [RCV001155073] Chr5:14709746 [GRCh38]
Chr5:14709855 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.282G>A (p.Gly94=) single nucleotide variant Chondrocalcinosis 2 [RCV001153392]|Craniometaphyseal dysplasia, autosomal dominant [RCV001153391]|not provided [RCV002070867] Chr5:14769006 [GRCh38]
Chr5:14769115 [GRCh37]
Chr5:5p15.2		 benign|likely benign
NM_054027.6(ANKH):c.*5062A>G single nucleotide variant Chondrocalcinosis 2 [RCV001156313]|Craniometaphyseal dysplasia, autosomal dominant [RCV001153704] Chr5:14706135 [GRCh38]
Chr5:14706244 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*3133C>A single nucleotide variant Chondrocalcinosis 2 [RCV001154014]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154013] Chr5:14708064 [GRCh38]
Chr5:14708173 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*4811A>G single nucleotide variant Chondrocalcinosis 2 [RCV001156316]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156317] Chr5:14706386 [GRCh38]
Chr5:14706495 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1357C>T (p.Arg453Trp) single nucleotide variant Chondrocalcinosis 2 [RCV001154541]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154540]|not provided [RCV001342242] Chr5:14712882 [GRCh38]
Chr5:14712991 [GRCh37]
Chr5:5p15.2		 benign|uncertain significance
NM_054027.6(ANKH):c.822+323A>C single nucleotide variant not provided [RCV001683975] Chr5:14748849 [GRCh38]
Chr5:14748958 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*3359T>G single nucleotide variant Chondrocalcinosis 2 [RCV001152735]|Craniometaphyseal dysplasia, autosomal dominant [RCV001152734] Chr5:14707838 [GRCh38]
Chr5:14707947 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1142-321G>A single nucleotide variant not provided [RCV001582247] Chr5:14713988 [GRCh38]
Chr5:14714097 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.823-225A>G single nucleotide variant not provided [RCV001683793] Chr5:14746187 [GRCh38]
Chr5:14746296 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.688-136A>G single nucleotide variant not provided [RCV001649546] Chr5:14749442 [GRCh38]
Chr5:14749551 [GRCh37]
Chr5:5p15.2		 benign
NC_000005.10:g.14872109G>T single nucleotide variant not provided [RCV001530740] Chr5:14872109 [GRCh38]
Chr5:14872218 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.*3543G>T single nucleotide variant Chondrocalcinosis 2 [RCV001158210]|Craniometaphyseal dysplasia, autosomal dominant [RCV001158211] Chr5:14707654 [GRCh38]
Chr5:14707763 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.937G>A (p.Val313Met) single nucleotide variant Chondrocalcinosis 2 [RCV001151717]|Craniometaphyseal dysplasia, autosomal dominant [RCV001151718]|Inborn genetic diseases [RCV002558317] Chr5:14741901 [GRCh38]
Chr5:14742010 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.97-9C>T single nucleotide variant Chondrocalcinosis 2 [RCV001156000]|Craniometaphyseal dysplasia, autosomal dominant [RCV001155999] Chr5:14769200 [GRCh38]
Chr5:14769309 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1192G>C single nucleotide variant Chondrocalcinosis 2 [RCV001151288]|Craniometaphyseal dysplasia, autosomal dominant [RCV001151287] Chr5:14710005 [GRCh38]
Chr5:14710114 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*700G>A single nucleotide variant Chondrocalcinosis 2 [RCV001151417]|Craniometaphyseal dysplasia, autosomal dominant [RCV001151416] Chr5:14710497 [GRCh38]
Chr5:14710606 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*30C>T single nucleotide variant Chondrocalcinosis 2 [RCV001151525]|Craniometaphyseal dysplasia, autosomal dominant [RCV001151524] Chr5:14711167 [GRCh38]
Chr5:14711276 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*96T>C single nucleotide variant Chondrocalcinosis 2 [RCV001156945]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156944] Chr5:14711101 [GRCh38]
Chr5:14711210 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*5759G>C single nucleotide variant Chondrocalcinosis 2 [RCV001157903]|Craniometaphyseal dysplasia, autosomal dominant [RCV001157902] Chr5:14705438 [GRCh38]
Chr5:14705547 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*999T>C single nucleotide variant Chondrocalcinosis 2 [RCV001154349]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154348] Chr5:14710198 [GRCh38]
Chr5:14710307 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.897G>A (p.Val299=) single nucleotide variant Chondrocalcinosis 2 [RCV001152961]|Craniometaphyseal dysplasia, autosomal dominant [RCV001152960] Chr5:14745888 [GRCh38]
Chr5:14745997 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1988C>G single nucleotide variant Chondrocalcinosis 2 [RCV001156631]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154961] Chr5:14709209 [GRCh38]
Chr5:14709318 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*309G>C single nucleotide variant Chondrocalcinosis 2 [RCV001155279]|Craniometaphyseal dysplasia, autosomal dominant [RCV001155278] Chr5:14710888 [GRCh38]
Chr5:14710997 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*5930C>T single nucleotide variant Chondrocalcinosis 2 [RCV001153609]|Craniometaphyseal dysplasia, autosomal dominant [RCV001153610] Chr5:14705267 [GRCh38]
Chr5:14705376 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*3172A>G single nucleotide variant Chondrocalcinosis 2 [RCV001154011]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154012] Chr5:14708025 [GRCh38]
Chr5:14708134 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2959T>C single nucleotide variant Chondrocalcinosis 2 [RCV001154015]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154016] Chr5:14708238 [GRCh38]
Chr5:14708347 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*3567G>C single nucleotide variant Chondrocalcinosis 2 [RCV001154760]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154761] Chr5:14707630 [GRCh38]
Chr5:14707739 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*1772C>T single nucleotide variant Chondrocalcinosis 2 [RCV001151164]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156634] Chr5:14709425 [GRCh38]
Chr5:14709534 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1304C>T (p.Ala435Val) single nucleotide variant Chondrocalcinosis 2 [RCV001155372]|Craniometaphyseal dysplasia, autosomal dominant [RCV001155373]|not provided [RCV001882486] Chr5:14712935 [GRCh38]
Chr5:14713044 [GRCh37]
Chr5:5p15.2		 benign|likely benign|uncertain significance
NM_054027.6(ANKH):c.*6226G>A single nucleotide variant Chondrocalcinosis 2 [RCV001156115]|Craniometaphyseal dysplasia, autosomal dominant [RCV001157800] Chr5:14704971 [GRCh38]
Chr5:14705080 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.1021G>A (p.Val341Met) single nucleotide variant ANKH-related disorder [RCV004538378]|Chondrocalcinosis 2 [RCV001151608]|Craniometaphyseal dysplasia, autosomal dominant [RCV001151607]|not provided [RCV001549885] Chr5:14716826 [GRCh38]
Chr5:14716935 [GRCh37]
Chr5:5p15.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_054027.6(ANKH):c.*2393A>T single nucleotide variant Chondrocalcinosis 2 [RCV001152847]|Craniometaphyseal dysplasia, autosomal dominant [RCV001152848] Chr5:14708804 [GRCh38]
Chr5:14708913 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*2674C>A single nucleotide variant Chondrocalcinosis 2 [RCV001156534]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156535] Chr5:14708523 [GRCh38]
Chr5:14708632 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*819T>G single nucleotide variant Chondrocalcinosis 2 [RCV001156832]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156831] Chr5:14710378 [GRCh38]
Chr5:14710487 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*5906T>C single nucleotide variant Chondrocalcinosis 2 [RCV001153612]|Craniometaphyseal dysplasia, autosomal dominant [RCV001153611] Chr5:14705291 [GRCh38]
Chr5:14705400 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*147T>A single nucleotide variant Chondrocalcinosis 2 [RCV001156943]|Craniometaphyseal dysplasia, autosomal dominant [RCV001156942] Chr5:14711050 [GRCh38]
Chr5:14711159 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*5579G>A single nucleotide variant Chondrocalcinosis 2 [RCV001153700]|Craniometaphyseal dysplasia, autosomal dominant [RCV001153701] Chr5:14705618 [GRCh38]
Chr5:14705727 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.*5518C>T single nucleotide variant Chondrocalcinosis 2 [RCV001153702]|Craniometaphyseal dysplasia, autosomal dominant [RCV001153703] Chr5:14705679 [GRCh38]
Chr5:14705788 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*1470G>A single nucleotide variant Chondrocalcinosis 2 [RCV001155071]|Craniometaphyseal dysplasia, autosomal dominant [RCV001154235] Chr5:14709727 [GRCh38]
Chr5:14709836 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.-252C>T single nucleotide variant Chondrocalcinosis 2 [RCV001157717]|Craniometaphyseal dysplasia, autosomal dominant [RCV001157716] Chr5:14871699 [GRCh38]
Chr5:14871808 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.13C>T (p.Pro5Ser) single nucleotide variant Chondrocalcinosis 2 [RCV001251194] Chr5:14871435 [GRCh38]
Chr5:14871544 [GRCh37]
Chr5:5p15.2		 likely pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1 copy number loss See cases [RCV002285039] Chr5:113576..30712376 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_054027.6(ANKH):c.314-5T>C single nucleotide variant not provided [RCV001296271] Chr5:14758603 [GRCh38]
Chr5:14758712 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.336C>T (p.Tyr112=) single nucleotide variant not provided [RCV001415141] Chr5:14758576 [GRCh38]
Chr5:14758685 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.-6G>C single nucleotide variant not provided [RCV001288434] Chr5:14871453 [GRCh38]
Chr5:14871562 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.677C>T (p.Pro226Leu) single nucleotide variant Inborn genetic diseases [RCV003160666]|not provided [RCV001415307] Chr5:14751079 [GRCh38]
Chr5:14751188 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_054027.6(ANKH):c.1325C>A (p.Thr442Asn) single nucleotide variant not provided [RCV001306543] Chr5:14712914 [GRCh38]
Chr5:14713023 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.870C>T (p.Tyr290=) single nucleotide variant not provided [RCV001288435] Chr5:14745915 [GRCh38]
Chr5:14746024 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1167G>C (p.Gly389=) single nucleotide variant not provided [RCV001515193] Chr5:14713642 [GRCh38]
Chr5:14713751 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.684G>A (p.Leu228=) single nucleotide variant not provided [RCV001518473] Chr5:14751072 [GRCh38]
Chr5:14751181 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.426C>T (p.Asp142=) single nucleotide variant not provided [RCV001457143] Chr5:14758486 [GRCh38]
Chr5:14758595 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.945G>A (p.Thr315=) single nucleotide variant not provided [RCV001439577] Chr5:14741893 [GRCh38]
Chr5:14742002 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.822+9T>C single nucleotide variant not provided [RCV001407199] Chr5:14749163 [GRCh38]
Chr5:14749272 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.831G>A (p.Ala277=) single nucleotide variant not provided [RCV001406214] Chr5:14745954 [GRCh38]
Chr5:14746063 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.447T>C (p.Ala149=) single nucleotide variant not provided [RCV001445983] Chr5:14755930 [GRCh38]
Chr5:14756039 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.729T>G (p.Pro243=) single nucleotide variant not provided [RCV001450912] Chr5:14749265 [GRCh38]
Chr5:14749374 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.447T>G (p.Ala149=) single nucleotide variant not provided [RCV001588510] Chr5:14755930 [GRCh38]
Chr5:14756039 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.915+165C>T single nucleotide variant not provided [RCV001707190] Chr5:14745705 [GRCh38]
Chr5:14745814 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.1366-81C>T single nucleotide variant not provided [RCV001586951] Chr5:14711391 [GRCh38]
Chr5:14711500 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.687+135T>C single nucleotide variant not provided [RCV001589553] Chr5:14750934 [GRCh38]
Chr5:14751043 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.823-212G>A single nucleotide variant not provided [RCV001715473] Chr5:14746174 [GRCh38]
Chr5:14746283 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.517-51G>A single nucleotide variant Craniometaphyseal dysplasia, autosomal dominant [RCV001554084]|not provided [RCV001595108] Chr5:14751290 [GRCh38]
Chr5:14751399 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.687+123C>A single nucleotide variant not provided [RCV001616673] Chr5:14750946 [GRCh38]
Chr5:14751055 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.357T>C (p.His119=) single nucleotide variant not provided [RCV001426826] Chr5:14758555 [GRCh38]
Chr5:14758664 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.255A>G (p.Lys85=) single nucleotide variant not provided [RCV001437499] Chr5:14769033 [GRCh38]
Chr5:14769142 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1461G>A (p.Met487Ile) single nucleotide variant not provided [RCV001761119] Chr5:14711215 [GRCh38]
Chr5:14711324 [GRCh37]
Chr5:5p15.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_054027.6(ANKH):c.331T>A (p.Tyr111Asn) single nucleotide variant not provided [RCV001757007] Chr5:14758581 [GRCh38]
Chr5:14758690 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1288G>A (p.Val430Met) single nucleotide variant not provided [RCV001774297] Chr5:14712951 [GRCh38]
Chr5:14713060 [GRCh37]
Chr5:5p15.2		 uncertain significance
NC_000005.10:g.14871952_14871958del deletion not provided [RCV001733055] Chr5:14871948..14871954 [GRCh38]
Chr5:14872057..14872063 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.915+5G>C single nucleotide variant not provided [RCV001914357] Chr5:14745865 [GRCh38]
Chr5:14745974 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.406G>A (p.Ala136Thr) single nucleotide variant Inborn genetic diseases [RCV003365573]|not provided [RCV001949870] Chr5:14758506 [GRCh38]
Chr5:14758615 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1388C>T (p.Ser463Leu) single nucleotide variant not provided [RCV001970467] Chr5:14711288 [GRCh38]
Chr5:14711397 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1246G>A (p.Val416Met) single nucleotide variant not provided [RCV002042516] Chr5:14713563 [GRCh38]
Chr5:14713672 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1 copy number loss not provided [RCV001827855] Chr5:113577..16952167 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
NM_054027.6(ANKH):c.1012-1G>T single nucleotide variant not provided [RCV001872782] Chr5:14716836 [GRCh38]
Chr5:14716945 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1305G>A (p.Ala435=) single nucleotide variant not provided [RCV002006345] Chr5:14712934 [GRCh38]
Chr5:14713043 [GRCh37]
Chr5:5p15.2		 likely benign|uncertain significance
NM_054027.6(ANKH):c.1040A>G (p.Asn347Ser) single nucleotide variant Inborn genetic diseases [RCV002545409]|not provided [RCV002041904] Chr5:14716807 [GRCh38]
Chr5:14716916 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1210T>C (p.Ser404Pro) single nucleotide variant not provided [RCV002040179] Chr5:14713599 [GRCh38]
Chr5:14713708 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1430C>T (p.Pro477Leu) single nucleotide variant Inborn genetic diseases [RCV004044693]|not provided [RCV001961795] Chr5:14711246 [GRCh38]
Chr5:14711355 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1006C>T (p.Leu336Phe) single nucleotide variant Inborn genetic diseases [RCV003355740]|not provided [RCV002000801] Chr5:14741832 [GRCh38]
Chr5:14741941 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.959C>G (p.Thr320Arg) single nucleotide variant not provided [RCV001944786] Chr5:14741879 [GRCh38]
Chr5:14741988 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1466A>G (p.Glu489Gly) single nucleotide variant not provided [RCV001886277] Chr5:14711210 [GRCh38]
Chr5:14711319 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.674G>T (p.Gly225Val) single nucleotide variant not provided [RCV001951620] Chr5:14751082 [GRCh38]
Chr5:14751191 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.583C>T (p.Leu195Phe) single nucleotide variant not provided [RCV001990053] Chr5:14751173 [GRCh38]
Chr5:14751282 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.944C>T (p.Thr315Met) single nucleotide variant not provided [RCV001921362] Chr5:14741894 [GRCh38]
Chr5:14742003 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1343C>T (p.Ala448Val) single nucleotide variant not provided [RCV002027466] Chr5:14712896 [GRCh38]
Chr5:14713005 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.687+4C>T single nucleotide variant not provided [RCV001879366] Chr5:14751065 [GRCh38]
Chr5:14751174 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1344G>A (p.Ala448=) single nucleotide variant not provided [RCV001974949] Chr5:14712895 [GRCh38]
Chr5:14713004 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.601G>A (p.Ala201Thr) single nucleotide variant not provided [RCV001920159] Chr5:14751155 [GRCh38]
Chr5:14751264 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.430A>G (p.Met144Val) single nucleotide variant not provided [RCV002017938] Chr5:14758482 [GRCh38]
Chr5:14758591 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.686G>A (p.Gly229Glu) single nucleotide variant not provided [RCV002048597] Chr5:14751070 [GRCh38]
Chr5:14751179 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1365+6A>T single nucleotide variant not provided [RCV001885925] Chr5:14712868 [GRCh38]
Chr5:14712977 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1039A>G (p.Asn347Asp) single nucleotide variant not provided [RCV002011616] Chr5:14716808 [GRCh38]
Chr5:14716917 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1012-3C>T single nucleotide variant not provided [RCV002031940] Chr5:14716838 [GRCh38]
Chr5:14716947 [GRCh37]
Chr5:5p15.2		 uncertain significance
NC_000005.9:g.(?_13692093)_(14871567_?)del deletion not provided [RCV001923386] Chr5:13692093..14871567 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.37C>T (p.Leu13=) single nucleotide variant not provided [RCV002128023] Chr5:14871411 [GRCh38]
Chr5:14871520 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.516+13T>C single nucleotide variant not provided [RCV002129327] Chr5:14755848 [GRCh38]
Chr5:14755957 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.313+16G>A single nucleotide variant not provided [RCV002085521] Chr5:14768959 [GRCh38]
Chr5:14769068 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.517-17G>A single nucleotide variant not provided [RCV002106415] Chr5:14751256 [GRCh38]
Chr5:14751365 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1350T>C (p.Tyr450=) single nucleotide variant not provided [RCV002191319] Chr5:14712889 [GRCh38]
Chr5:14712998 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1155G>A (p.Ala385=) single nucleotide variant not provided [RCV002106738] Chr5:14713654 [GRCh38]
Chr5:14713763 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.678G>A (p.Pro226=) single nucleotide variant not provided [RCV002148631] Chr5:14751078 [GRCh38]
Chr5:14751187 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.165G>A (p.Ala55=) single nucleotide variant not provided [RCV002135081] Chr5:14769123 [GRCh38]
Chr5:14769232 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1365+14G>A single nucleotide variant not provided [RCV002114536] Chr5:14712860 [GRCh38]
Chr5:14712969 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.687+9A>G single nucleotide variant not provided [RCV002153752] Chr5:14751060 [GRCh38]
Chr5:14751169 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.313+13A>G single nucleotide variant not provided [RCV002133300] Chr5:14768962 [GRCh38]
Chr5:14769071 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.915+15G>A single nucleotide variant not provided [RCV002151654] Chr5:14745855 [GRCh38]
Chr5:14745964 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1122C>T (p.Phe374=) single nucleotide variant not provided [RCV002173736] Chr5:14716725 [GRCh38]
Chr5:14716834 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.313+14C>T single nucleotide variant not provided [RCV002093804] Chr5:14768961 [GRCh38]
Chr5:14769070 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.90G>A (p.Gly30=) single nucleotide variant not provided [RCV002214349] Chr5:14871358 [GRCh38]
Chr5:14871467 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1365+11C>T single nucleotide variant not provided [RCV002199280] Chr5:14712863 [GRCh38]
Chr5:14712972 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.261C>T (p.Val87=) single nucleotide variant not provided [RCV002098661] Chr5:14769027 [GRCh38]
Chr5:14769136 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.259G>A (p.Val87Ile) single nucleotide variant Inborn genetic diseases [RCV003089133]|not provided [RCV002221712]   uncertain significance
NM_054027.6(ANKH):c.432+17G>A single nucleotide variant not provided [RCV002138247] Chr5:14758463 [GRCh38]
Chr5:14758572 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.97-13T>C single nucleotide variant not provided [RCV002082035] Chr5:14769204 [GRCh38]
Chr5:14769313 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1265+18T>C single nucleotide variant not provided [RCV002140393] Chr5:14713526 [GRCh38]
Chr5:14713635 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.342C>T (p.Ile114=) single nucleotide variant not provided [RCV002143961] Chr5:14758570 [GRCh38]
Chr5:14758679 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1365+12G>A single nucleotide variant not provided [RCV002159920] Chr5:14712862 [GRCh38]
Chr5:14712971 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1335C>T (p.Ala445=) single nucleotide variant not provided [RCV002162014] Chr5:14712904 [GRCh38]
Chr5:14713013 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1366-13T>G single nucleotide variant not provided [RCV002123114] Chr5:14711323 [GRCh38]
Chr5:14711432 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1342G>A (p.Ala448Thr) single nucleotide variant ANKH-related disorder [RCV004534392]|not provided [RCV003699096] Chr5:14712897 [GRCh38]
Chr5:14713006 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1365+16C>T single nucleotide variant not provided [RCV003115036] Chr5:14712858 [GRCh38]
Chr5:14712967 [GRCh37]
Chr5:5p15.2		 likely benign
NC_000005.9:g.(?_13692093)_(14871567_?)dup duplication not provided [RCV003122998] Chr5:13692093..14871567 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.962_963inv (p.Ala321Val) inversion not provided [RCV002259508] Chr5:14741875..14741876 [GRCh38]
Chr5:14741984..14741985 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1063G>C (p.Asp355His) single nucleotide variant not provided [RCV002291837] Chr5:14716784 [GRCh38]
Chr5:14716893 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520) copy number gain 5p partial monosomy syndrome [RCV002280773] Chr5:113576..29310520 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1 copy number loss not provided [RCV002473919] Chr5:113577..17654787 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.31-14.3(chr5:8081005-22210970)x1 copy number loss not provided [RCV002472646] Chr5:8081005..22210970 [GRCh37]
Chr5:5p15.31-14.3		 pathogenic
NM_054027.6(ANKH):c.96+5G>A single nucleotide variant not provided [RCV002615357] Chr5:14871347 [GRCh38]
Chr5:14871456 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1083T>G (p.Phe361Leu) single nucleotide variant not provided [RCV003095455] Chr5:14716764 [GRCh38]
Chr5:14716873 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.498C>T (p.Ile166=) single nucleotide variant not provided [RCV002755031] Chr5:14755879 [GRCh38]
Chr5:14755988 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1370AGA[1] (p.Lys458del) microsatellite not provided [RCV002613832] Chr5:14711301..14711303 [GRCh38]
Chr5:14711410..14711412 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.890G>A (p.Arg297His) single nucleotide variant Inborn genetic diseases [RCV002840594] Chr5:14745895 [GRCh38]
Chr5:14746004 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1 copy number loss not provided [RCV002475666] Chr5:113577..31448527 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1 copy number loss not provided [RCV002475573] Chr5:113577..26164852 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_054027.6(ANKH):c.518T>C (p.Val173Ala) single nucleotide variant Inborn genetic diseases [RCV002798323] Chr5:14751238 [GRCh38]
Chr5:14751347 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1112T>C (p.Leu371Ser) single nucleotide variant not provided [RCV003039190] Chr5:14716735 [GRCh38]
Chr5:14716844 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1225A>G (p.Ile409Val) single nucleotide variant Inborn genetic diseases [RCV002704845] Chr5:14713584 [GRCh38]
Chr5:14713693 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1365+17G>A single nucleotide variant not provided [RCV002569600] Chr5:14712857 [GRCh38]
Chr5:14712966 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.867A>G (p.Pro289=) single nucleotide variant not provided [RCV003100488] Chr5:14745918 [GRCh38]
Chr5:14746027 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.881C>T (p.Thr294Met) single nucleotide variant Inborn genetic diseases [RCV002950085] Chr5:14745904 [GRCh38]
Chr5:14746013 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1164C>T (p.Thr388=) single nucleotide variant not provided [RCV002735962] Chr5:14713645 [GRCh38]
Chr5:14713754 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1425_1451del (p.Met475_Asp483del) deletion not provided [RCV002576329] Chr5:14711225..14711251 [GRCh38]
Chr5:14711334..14711360 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1476A>G (p.Glu492=) single nucleotide variant not provided [RCV002596972] Chr5:14711200 [GRCh38]
Chr5:14711309 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.497T>C (p.Ile166Thr) single nucleotide variant not provided [RCV002642423] Chr5:14755880 [GRCh38]
Chr5:14755989 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1012C>G (p.Leu338Val) single nucleotide variant Inborn genetic diseases [RCV002892630] Chr5:14716835 [GRCh38]
Chr5:14716944 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.962C>A (p.Ala321Glu) single nucleotide variant not provided [RCV003005253] Chr5:14741876 [GRCh38]
Chr5:14741985 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1116G>C (p.Arg372=) single nucleotide variant not provided [RCV002663798] Chr5:14716731 [GRCh38]
Chr5:14716840 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.139G>A (p.Glu47Lys) single nucleotide variant Inborn genetic diseases [RCV004067905]|not provided [RCV002741954] Chr5:14769149 [GRCh38]
Chr5:14769258 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.295G>A (p.Val99Ile) single nucleotide variant Inborn genetic diseases [RCV002789666] Chr5:14768993 [GRCh38]
Chr5:14769102 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.38T>A (p.Leu13Gln) single nucleotide variant not provided [RCV002573899] Chr5:14871410 [GRCh38]
Chr5:14871519 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.610C>T (p.Arg204Cys) single nucleotide variant not provided [RCV002602236] Chr5:14751146 [GRCh38]
Chr5:14751255 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1262T>G (p.Leu421Arg) single nucleotide variant not provided [RCV003045312] Chr5:14713547 [GRCh38]
Chr5:14713656 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.916-17_916-16del microsatellite not provided [RCV002597927] Chr5:14741938..14741939 [GRCh38]
Chr5:14742047..14742048 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.822+11C>T single nucleotide variant not provided [RCV003009876] Chr5:14749161 [GRCh38]
Chr5:14749270 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1012-12C>G single nucleotide variant not provided [RCV003009637] Chr5:14716847 [GRCh38]
Chr5:14716956 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.314-18C>A single nucleotide variant not provided [RCV002630468] Chr5:14758616 [GRCh38]
Chr5:14758725 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.440C>T (p.Thr147Ile) single nucleotide variant not provided [RCV002833820] Chr5:14755937 [GRCh38]
Chr5:14756046 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.432+16C>A single nucleotide variant not provided [RCV002650281] Chr5:14758464 [GRCh38]
Chr5:14758573 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1012-16A>G single nucleotide variant not provided [RCV002811730] Chr5:14716851 [GRCh38]
Chr5:14716960 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.313+13del deletion not provided [RCV002900195] Chr5:14768962 [GRCh38]
Chr5:14769071 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1358G>A (p.Arg453Gln) single nucleotide variant Inborn genetic diseases [RCV003367930]|not provided [RCV002988374] Chr5:14712881 [GRCh38]
Chr5:14712990 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.517G>T (p.Val173Phe) single nucleotide variant Inborn genetic diseases [RCV002680016] Chr5:14751239 [GRCh38]
Chr5:14751348 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.915+6_915+15del deletion not provided [RCV002814419] Chr5:14745855..14745864 [GRCh38]
Chr5:14745964..14745973 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1452C>T (p.Ile484=) single nucleotide variant not provided [RCV002606726] Chr5:14711224 [GRCh38]
Chr5:14711333 [GRCh37]
Chr5:5p15.2		 likely benign
GRCh37/hg19 5p15.2-15.1(chr5:10165922-18156739)x3 copy number gain Intellectual developmental disorder, autosomal dominant 63, with macrocephaly [RCV003159551] Chr5:10165922..18156739 [GRCh37]
Chr5:5p15.2-15.1		 pathogenic|likely pathogenic
NM_054027.6(ANKH):c.1025T>C (p.Met342Thr) single nucleotide variant Inborn genetic diseases [RCV003309827] Chr5:14716822 [GRCh38]
Chr5:14716931 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.320G>A (p.Ser107Asn) single nucleotide variant not provided [RCV003325744] Chr5:14758592 [GRCh38]
Chr5:14758701 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.976A>C (p.Lys326Gln) single nucleotide variant ANKH-related disorder [RCV004534350] Chr5:14741862 [GRCh38]
Chr5:14741971 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.421A>G (p.Met141Val) single nucleotide variant Inborn genetic diseases [RCV003371306] Chr5:14758491 [GRCh38]
Chr5:14758600 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.31-15.1(chr5:9002950-15174932)x1 copy number loss not provided [RCV003485455] Chr5:9002950..15174932 [GRCh37]
Chr5:5p15.31-15.1		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1 copy number loss not provided [RCV003485453] Chr5:862398..18927500 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_054027.6(ANKH):c.1365+1_1365+9dup duplication not provided [RCV003543438] Chr5:14712864..14712865 [GRCh38]
Chr5:14712973..14712974 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.339T>A (p.Ile113=) single nucleotide variant not provided [RCV003571832] Chr5:14758573 [GRCh38]
Chr5:14758682 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.204C>T (p.Asp68=) single nucleotide variant not provided [RCV003874357] Chr5:14769084 [GRCh38]
Chr5:14769193 [GRCh37]
Chr5:5p15.2		 likely benign
GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1 copy number loss not provided [RCV003485447] Chr5:113577..35613146 [GRCh37]
Chr5:5p15.33-13.2		 pathogenic
GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1 copy number loss not provided [RCV003485449] Chr5:113577..30529044 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1 copy number loss not provided [RCV003485450] Chr5:113577..21529653 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_054027.6(ANKH):c.910G>A (p.Asp304Asn) single nucleotide variant not provided [RCV003429578] Chr5:14745875 [GRCh38]
Chr5:14745984 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.384G>A (p.Thr128=) single nucleotide variant not provided [RCV003436422] Chr5:14758528 [GRCh38]
Chr5:14758637 [GRCh37]
Chr5:5p15.2		 likely benign
GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3 copy number gain not provided [RCV003484599] Chr5:113577..27800913 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_054027.6(ANKH):c.1467_1471del (p.Glu489_Glu490insTer) deletion not provided [RCV003441224] Chr5:14711205..14711209 [GRCh38]
Chr5:14711314..14711318 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.314-2A>T single nucleotide variant Craniometaphyseal dysplasia, autosomal dominant [RCV003389095] Chr5:14758600 [GRCh38]
Chr5:14758709 [GRCh37]
Chr5:5p15.2		 likely pathogenic
NM_054027.6(ANKH):c.1011G>A (p.Thr337=) single nucleotide variant not provided [RCV003443609] Chr5:14741827 [GRCh38]
Chr5:14741936 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.96+93C>T single nucleotide variant not provided [RCV003429579] Chr5:14871259 [GRCh38]
Chr5:14871368 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.*302_*321dup duplication not provided [RCV003436421] Chr5:14710875..14710876 [GRCh38]
Chr5:14710984..14710985 [GRCh37]
Chr5:5p15.2		 benign
NM_054027.6(ANKH):c.878T>C (p.Leu293Ser) single nucleotide variant not provided [RCV003692143] Chr5:14745907 [GRCh38]
Chr5:14746016 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.936G>A (p.Leu312=) single nucleotide variant not provided [RCV003696687] Chr5:14741902 [GRCh38]
Chr5:14742011 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1041C>T (p.Asn347=) single nucleotide variant not provided [RCV003876758] Chr5:14716806 [GRCh38]
Chr5:14716915 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.745G>A (p.Ala249Thr) single nucleotide variant not provided [RCV003576577] Chr5:14749249 [GRCh38]
Chr5:14749358 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.194C>G (p.Pro65Arg) single nucleotide variant not provided [RCV003572256] Chr5:14769094 [GRCh38]
Chr5:14769203 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1265+11A>C single nucleotide variant not provided [RCV003694347] Chr5:14713533 [GRCh38]
Chr5:14713642 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1227C>G (p.Ile409Met) single nucleotide variant not provided [RCV003545236] Chr5:14713582 [GRCh38]
Chr5:14713691 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.150C>T (p.Ala50=) single nucleotide variant not provided [RCV003878125] Chr5:14769138 [GRCh38]
Chr5:14769247 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.314-18C>G single nucleotide variant not provided [RCV003878996] Chr5:14758616 [GRCh38]
Chr5:14758725 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.189G>C (p.Thr63=) single nucleotide variant not provided [RCV003852678] Chr5:14769099 [GRCh38]
Chr5:14769208 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.383C>T (p.Thr128Met) single nucleotide variant not provided [RCV003851771] Chr5:14758529 [GRCh38]
Chr5:14758638 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.517-18C>T single nucleotide variant not provided [RCV003811922] Chr5:14751257 [GRCh38]
Chr5:14751366 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.630G>A (p.Leu210=) single nucleotide variant not provided [RCV003580168] Chr5:14751126 [GRCh38]
Chr5:14751235 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1474G>A (p.Glu492Lys) single nucleotide variant Inborn genetic diseases [RCV004415847]|not provided [RCV004784202] Chr5:14711202 [GRCh38]
Chr5:14711311 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1072G>A (p.Gly358Arg) single nucleotide variant not provided [RCV003856168] Chr5:14716775 [GRCh38]
Chr5:14716884 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.313+15C>T single nucleotide variant not provided [RCV003816003] Chr5:14768960 [GRCh38]
Chr5:14769069 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.128A>T (p.Glu43Val) single nucleotide variant not provided [RCV003700585] Chr5:14769160 [GRCh38]
Chr5:14769269 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.646A>G (p.Ile216Val) single nucleotide variant not provided [RCV003838173] Chr5:14751110 [GRCh38]
Chr5:14751219 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.377G>C (p.Ser126Thr) single nucleotide variant not provided [RCV003834149] Chr5:14758535 [GRCh38]
Chr5:14758644 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1345T>C (p.Cys449Arg) single nucleotide variant not provided [RCV003836588] Chr5:14712894 [GRCh38]
Chr5:14713003 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1142-12T>G single nucleotide variant not provided [RCV003842127] Chr5:14713679 [GRCh38]
Chr5:14713788 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.327A>C (p.Leu109Phe) single nucleotide variant not provided [RCV003845526] Chr5:14758585 [GRCh38]
Chr5:14758694 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.313+11C>T single nucleotide variant not provided [RCV003843579] Chr5:14768964 [GRCh38]
Chr5:14769073 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.409G>A (p.Ala137Thr) single nucleotide variant not provided [RCV003556669] Chr5:14758503 [GRCh38]
Chr5:14758612 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.34C>T (p.Pro12Ser) single nucleotide variant not provided [RCV003732114] Chr5:14871414 [GRCh38]
Chr5:14871523 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1011+19T>A single nucleotide variant not provided [RCV003841875] Chr5:14741808 [GRCh38]
Chr5:14741917 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.408C>T (p.Ala136=) single nucleotide variant not provided [RCV003864136] Chr5:14758504 [GRCh38]
Chr5:14758613 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.651C>T (p.His217=) single nucleotide variant not provided [RCV003736285] Chr5:14751105 [GRCh38]
Chr5:14751214 [GRCh37]
Chr5:5p15.2		 likely benign
GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1 copy number loss not specified [RCV003986593] Chr5:113576..19388145 [GRCh37]
Chr5:5p15.33-14.3		 pathogenic
NM_054027.6(ANKH):c.886A>G (p.Ile296Val) single nucleotide variant not provided [RCV003871850] Chr5:14745899 [GRCh38]
Chr5:14746008 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:3272715-17317051)x1 copy number loss not specified [RCV003986598] Chr5:3272715..17317051 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
GRCh37/hg19 5p15.32-13.3(chr5:5259461-29748394)x1 copy number loss not specified [RCV003986556] Chr5:5259461..29748394 [GRCh37]
Chr5:5p15.32-13.3		 pathogenic
NM_054027.6(ANKH):c.1011+15T>A single nucleotide variant not provided [RCV003862618] Chr5:14741812 [GRCh38]
Chr5:14741921 [GRCh37]
Chr5:5p15.2		 likely benign
GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1 copy number loss not specified [RCV003986560] Chr5:113576..26534253 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_054027.6(ANKH):c.1103T>G (p.Val368Gly) single nucleotide variant not provided [RCV003868279] Chr5:14716744 [GRCh38]
Chr5:14716853 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1 copy number loss not specified [RCV003986589] Chr5:113576..17511896 [GRCh37]
Chr5:5p15.33-15.1		 pathogenic
NM_054027.6(ANKH):c.887T>C (p.Ile296Thr) single nucleotide variant not provided [RCV003859180] Chr5:14745898 [GRCh38]
Chr5:14746007 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1 copy number loss not specified [RCV003986544] Chr5:113576..28300709 [GRCh37]
Chr5:5p15.33-14.1		 pathogenic
NM_054027.6(ANKH):c.*10C>A single nucleotide variant ANKH-related disorder [RCV004532130] Chr5:14711187 [GRCh38]
Chr5:14711296 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1365+15_1365+19dup duplication not provided [RCV003841114] Chr5:14712854..14712855 [GRCh38]
Chr5:14712963..14712964 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.687+9A>C single nucleotide variant not provided [RCV003870871] Chr5:14751060 [GRCh38]
Chr5:14751169 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.284C>T (p.Ala95Val) single nucleotide variant not provided [RCV003819089] Chr5:14769004 [GRCh38]
Chr5:14769113 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1011+12G>C single nucleotide variant not provided [RCV003568783] Chr5:14741815 [GRCh38]
Chr5:14741924 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.222G>A (p.Leu74=) single nucleotide variant not provided [RCV003822691] Chr5:14769066 [GRCh38]
Chr5:14769175 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1365+19G>A single nucleotide variant not provided [RCV003820143] Chr5:14712855 [GRCh38]
Chr5:14712964 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1114C>T (p.Arg372Trp) single nucleotide variant Inborn genetic diseases [RCV004415829] Chr5:14716733 [GRCh38]
Chr5:14716842 [GRCh37]
Chr5:5p15.2		 uncertain significance
GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3 copy number gain not provided [RCV004442822] Chr5:113577..31773283 [GRCh37]
Chr5:5p15.33-13.3		 pathogenic
NM_054027.6(ANKH):c.649C>G (p.His217Asp) single nucleotide variant ANKH-related disorder [RCV004539276] Chr5:14751107 [GRCh38]
Chr5:14751216 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.1266-18T>C single nucleotide variant not specified [RCV004586066] Chr5:14712991 [GRCh38]
Chr5:14713100 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1293C>T (p.Gly431=) single nucleotide variant not provided [RCV004576078] Chr5:14712946 [GRCh38]
Chr5:14713055 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.679G>A (p.Glu227Lys) single nucleotide variant Craniometaphyseal dysplasia, autosomal dominant [RCV004698727] Chr5:14751077 [GRCh38]
Chr5:14751186 [GRCh37]
Chr5:5p15.2		 likely benign
NM_054027.6(ANKH):c.1261dup (p.Leu421fs) duplication Craniometaphyseal dysplasia, autosomal dominant [RCV004720574] Chr5:14713547..14713548 [GRCh38]
Chr5:14713656..14713657 [GRCh37]
Chr5:5p15.2		 pathogenic
NM_054027.6(ANKH):c.1291G>C (p.Gly431Arg) single nucleotide variant not provided [RCV004762987]   uncertain significance
NM_054027.6(ANKH):c.1292G>A (p.Gly431Asp) single nucleotide variant not provided [RCV004724067] Chr5:14712947 [GRCh38]
Chr5:14713056 [GRCh37]
Chr5:5p15.2		 uncertain significance
NM_054027.6(ANKH):c.516+6T>A single nucleotide variant not provided [RCV004761132]   uncertain significance
NM_054027.6(ANKH):c.916A>G (p.Asn306Asp) single nucleotide variant not provided [RCV004769322] Chr5:14741922 [GRCh38]
Chr5:14742031 [GRCh37]
Chr5:5p15.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3865
Count of miRNA genes:1347
Interacting mature miRNAs:1760
Transcripts:ENST00000284268, ENST00000502585, ENST00000503389, ENST00000503939, ENST00000505140, ENST00000513115, ENST00000515517, ENST00000535119
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
407107521GWAS756497_Hprotein measurement QTL GWAS756497 (human)8e-12protein measurement51477320814773209Human
406915267GWAS564243_Hglaucoma QTL GWAS564243 (human)4e-10glaucoma51485098514850986Human
406911683GWAS560659_Hglaucoma QTL GWAS560659 (human)2e-08glaucoma51483722314837224Human
407248067GWAS897043_Htype 2 diabetes mellitus QTL GWAS897043 (human)0.0000001type 2 diabetes mellitus51475119614751197Human
407047364GWAS696340_Hmetabolite measurement, diet measurement QTL GWAS696340 (human)2e-09metabolite measurement, diet measurementfood intake measurement (CMO:0000772)51471621114716212Human
407021509GWAS670485_Hbody height QTL GWAS670485 (human)1e-09body height (VT:0001253)body height (CMO:0000106)51474844714748448Human
407197525GWAS846501_Hopen-angle glaucoma QTL GWAS846501 (human)2e-10open-angle glaucoma51481477414814775Human
407305044GWAS954020_Htype 2 diabetes mellitus QTL GWAS954020 (human)0.0000004type 2 diabetes mellitus51475119614751197Human
407051985GWAS700961_Hdiet measurement, HOMA-IR QTL GWAS700961 (human)0.000007diet measurement, HOMA-IRHomeostatic Model Assessment of Insulin Resistance (CMO:0003002)51475274114752742Human
407001041GWAS650017_Hintraocular pressure measurement QTL GWAS650017 (human)1e-12intraocular pressure measurement51482081814820819Human
407114962GWAS763938_Hcitrate measurement QTL GWAS763938 (human)9e-42citrate measurement51475363614753637Human
407114963GWAS763939_Hcitrate measurement QTL GWAS763939 (human)2e-93citrate measurement51487049714870498Human
406958809GWAS607785_Hbreast density QTL GWAS607785 (human)0.000004breast density51479772014797721Human
407042521GWAS691497_Hopen-angle glaucoma QTL GWAS691497 (human)8e-19open-angle glaucoma51481477414814775Human
406935776GWAS584752_Hopen-angle glaucoma QTL GWAS584752 (human)7e-13open-angle glaucoma51483722314837224Human
407328617GWAS977593_HHbA1c measurement QTL GWAS977593 (human)1e-30HbA1c measurementblood hemoglobin A1c level (CMO:0002786)51475119614751197Human
407281256GWAS930232_Htype 2 diabetes mellitus QTL GWAS930232 (human)3e-11type 2 diabetes mellitus51475581014755811Human
407281257GWAS930233_Htype 2 diabetes mellitus QTL GWAS930233 (human)1e-11type 2 diabetes mellitus51478041214780413Human
407208051GWAS857027_Hblood phosphate measurement QTL GWAS857027 (human)2e-22blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)51475119614751197Human
407394558GWAS1043534_Hcitrate measurement QTL GWAS1043534 (human)4e-25citrate measurement51486783914867840Human
407302513GWAS951489_Htype 2 diabetes mellitus QTL GWAS951489 (human)4e-09type 2 diabetes mellitus51475119614751197Human
406923641GWAS572617_HDrugs used in diabetes use measurement QTL GWAS572617 (human)5e-10Drugs used in diabetes use measurement51481072514810726Human
407014010GWAS662986_Hopen-angle glaucoma QTL GWAS662986 (human)4e-23open-angle glaucoma51481477414814775Human
407044857GWAS693833_Hopen-angle glaucoma QTL GWAS693833 (human)1e-21open-angle glaucoma51481477414814775Human
407415795GWAS1064771_Hdiastolic blood pressure QTL GWAS1064771 (human)4e-08diastolic blood pressurediastolic blood pressure (CMO:0000005)51486783914867840Human
407110904GWAS759880_Hprotein measurement QTL GWAS759880 (human)1e-10protein measurement51477320814773209Human
406942973GWAS591949_Hlipid measurement QTL GWAS591949 (human)0.0000007lipid measurementblood lipid measurement (CMO:0000050)51479982814799829Human
407085187GWAS734163_Hprostate carcinoma QTL GWAS734163 (human)3e-08prostate carcinoma51484888814848889Human
407013377GWAS662353_Hintraocular pressure measurement QTL GWAS662353 (human)4e-10intraocular pressure measurement51481477414814775Human
407072005GWAS720981_Hcitrate measurement QTL GWAS720981 (human)4e-69citrate measurement51487058214870583Human
406915337GWAS564313_Hglaucoma QTL GWAS564313 (human)6e-10glaucoma51482081814820819Human
407160333GWAS809309_Htype 2 diabetes mellitus QTL GWAS809309 (human)8e-13type 2 diabetes mellitus51475119614751197Human
407330446GWAS979422_Hglucose measurement QTL GWAS979422 (human)9e-13glucose measurementblood glucose level (CMO:0000046)51475119614751197Human
407160334GWAS809310_Htype 2 diabetes mellitus QTL GWAS809310 (human)2e-11type 2 diabetes mellitus51475363614753637Human
407362189GWAS1011165_Htype 2 diabetes mellitus QTL GWAS1011165 (human)3e-13type 2 diabetes mellitus51476798314767984Human
407160335GWAS809311_Htype 2 diabetes mellitus QTL GWAS809311 (human)2e-08type 2 diabetes mellitus51476798314767984Human
407217301GWAS866277_Htype 2 diabetes mellitus QTL GWAS866277 (human)2e-31hemoglobin A1 measurement51475119614751197Human
407318423GWAS967399_HHbA1c measurement QTL GWAS967399 (human)4e-11HbA1c measurementblood hemoglobin A1c level (CMO:0002786)51480056714800568Human
407318422GWAS967398_HHbA1c measurement QTL GWAS967398 (human)1e-11HbA1c measurementblood hemoglobin A1c level (CMO:0002786)51476865714768658Human
406917651GWAS566627_Hintraocular pressure measurement QTL GWAS566627 (human)3e-12intraocular pressure measurement51483722314837224Human
407160336GWAS809312_Htype 2 diabetes mellitus QTL GWAS809312 (human)3e-10type 2 diabetes mellitus51476865714768658Human
407302803GWAS951779_Htype 2 diabetes mellitus QTL GWAS951779 (human)3e-09type 2 diabetes mellitus51484722214847223Human
407269520GWAS918496_Hbody height QTL GWAS918496 (human)2e-66body height (VT:0001253)body height (CMO:0000106)51474844714748448Human
407191327GWAS840303_Hdiabetes mellitus QTL GWAS840303 (human)1e-10diabetes mellitus51475119614751197Human
407231513GWAS880489_HHbA1c measurement QTL GWAS880489 (human)8e-51HbA1c measurementblood hemoglobin A1c level (CMO:0002786)51475119614751197Human
407289242GWAS938218_Htype 2 diabetes mellitus QTL GWAS938218 (human)7e-13type 2 diabetes mellitus51475581014755811Human
407289243GWAS938219_Htype 2 diabetes mellitus QTL GWAS938219 (human)2e-09type 2 diabetes mellitus51478041214780413Human
407309593GWAS958569_Hblood phosphate measurement QTL GWAS958569 (human)1e-10blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)51475363614753637Human
406927907GWAS576883_Hbody height QTL GWAS576883 (human)2e-09body height (VT:0001253)body height (CMO:0000106)51474624114746242Human
407039782GWAS688758_Hurate measurement, body mass index QTL GWAS688758 (human)0.000002urate measurement, body mass indexbody mass index (BMI) (CMO:0000105)51476482514764826Human
407059364GWAS708340_Hintraocular pressure measurement QTL GWAS708340 (human)5e-15intraocular pressure measurement51482030814820309Human
407275054GWAS924030_Hage at diagnosis, type 2 diabetes mellitus QTL GWAS924030 (human)4e-08age at diagnosis, type 2 diabetes mellitus51475119614751197Human
407280302GWAS929278_Htype 2 diabetes mellitus QTL GWAS929278 (human)5e-09type 2 diabetes mellitus51476798314767984Human
407419168GWAS1068144_Hsystolic blood pressure QTL GWAS1068144 (human)0.000009systolic blood pressuresystolic blood pressure (CMO:0000004)51486783914867840Human
407201196GWAS850172_Hglucose measurement QTL GWAS850172 (human)1e-15glucose measurementblood glucose level (CMO:0000046)51475119614751197Human
407248557GWAS897533_Htype 2 diabetes mellitus QTL GWAS897533 (human)0.0000002type 2 diabetes mellitus51475119614751197Human
407314344GWAS963320_Hblood phosphate measurement QTL GWAS963320 (human)3e-18blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)51475119614751197Human
407273513GWAS922489_Htype 2 diabetes mellitus QTL GWAS922489 (human)3e-09type 2 diabetes mellitus51476798314767984Human
407198134GWAS847110_HAlzheimer disease QTL GWAS847110 (human)0.000005Alzheimer disease51472430414724305Human
407180989GWAS829965_HAlzheimer disease QTL GWAS829965 (human)2e-09Alzheimer disease51472430414724305Human
407310397GWAS959373_Hcitrate measurement QTL GWAS959373 (human)4e-125citrate measurement51487049714870498Human
407331772GWAS980748_Hglucose measurement QTL GWAS980748 (human)2e-12glucose measurementblood glucose level (CMO:0000046)51475119614751197Human
406934591GWAS583567_Hheel bone mineral density QTL GWAS583567 (human)6e-08heel bone mineral densitybone mineral density (CMO:0001226)51480030714800308Human

Markers in Region
RH16357  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,711,215 - 14,711,373UniSTSGRCh37
Build 36514,764,215 - 14,764,373RGDNCBI36
Celera514,735,173 - 14,735,331RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,684,017 - 14,684,175UniSTS
GeneMap99-GB4 RH Map549.5UniSTS
NCBI RH Map553.1UniSTS
A004S29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,704,950 - 14,705,060UniSTSGRCh37
Build 36514,757,950 - 14,758,060RGDNCBI36
Celera514,728,908 - 14,729,018RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,677,753 - 14,677,863UniSTS
GeneMap99-GB4 RH Map549.5UniSTS
Whitehead-RH Map548.8UniSTS
NCBI RH Map553.1UniSTS
RH103894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,757,585 - 14,757,684UniSTSGRCh37
Build 36514,810,585 - 14,810,684RGDNCBI36
Celera514,781,539 - 14,781,638RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,730,385 - 14,730,484UniSTS
GeneMap99-GB4 RH Map549.5UniSTS
RH104308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,754,513 - 14,754,687UniSTSGRCh37
Build 36514,807,513 - 14,807,687RGDNCBI36
Celera514,778,467 - 14,778,641RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,727,313 - 14,727,487UniSTS
GeneMap99-GB4 RH Map549.5UniSTS
RH123363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,784,940 - 14,785,235UniSTSGRCh37
Build 36514,837,940 - 14,838,235RGDNCBI36
Celera514,808,908 - 14,809,202RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,757,985 - 14,758,279UniSTS
TNG Radiation Hybrid Map57441.0UniSTS
D5S1665E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,710,868 - 14,711,014UniSTSGRCh37
Build 36514,763,868 - 14,764,014RGDNCBI36
Celera514,734,826 - 14,734,972RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,683,670 - 14,683,816UniSTS
D5S2663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,768,401 - 14,768,532UniSTSGRCh37
Build 36514,821,401 - 14,821,532RGDNCBI36
Celera514,792,371 - 14,792,502RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,741,217 - 14,741,348UniSTS
WI-18203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,859,069 - 14,859,218UniSTSGRCh37
Build 36514,912,069 - 14,912,218RGDNCBI36
Celera514,883,011 - 14,883,160RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,832,177 - 14,832,326UniSTS
GeneMap99-GB4 RH Map549.5UniSTS
Whitehead-RH Map548.8UniSTS
NCBI RH Map553.1UniSTS
RH12671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,709,438 - 14,709,622UniSTSGRCh37
Build 36514,762,438 - 14,762,622RGDNCBI36
Celera514,733,396 - 14,733,580RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,682,240 - 14,682,424UniSTS
GeneMap99-GB4 RH Map549.5UniSTS
NCBI RH Map553.1UniSTS
A009D34  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,710,799 - 14,710,901UniSTSGRCh37
Build 36514,763,799 - 14,763,901RGDNCBI36
Celera514,734,757 - 14,734,859RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,683,601 - 14,683,703UniSTS
GeneMap99-GB4 RH Map549.61UniSTS
NCBI RH Map553.1UniSTS
WI-15017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,773,509 - 14,773,639UniSTSGRCh37
Build 36514,826,509 - 14,826,639RGDNCBI36
Celera514,797,478 - 14,797,608RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,746,324 - 14,746,454UniSTS
GeneMap99-GB4 RH Map549.45UniSTS
Whitehead-RH Map549.0UniSTS
NCBI RH Map553.1UniSTS
IB363  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,710,165 - 14,710,351UniSTSGRCh37
Build 36514,763,165 - 14,763,351RGDNCBI36
Celera514,734,123 - 14,734,309RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,682,967 - 14,683,153UniSTS
GeneMap99-GB4 RH Map549.5UniSTS
Whitehead-RH Map548.8UniSTS
NCBI RH Map553.1UniSTS
SHGC-35145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,711,175 - 14,711,325UniSTSGRCh37
Build 36514,764,175 - 14,764,325RGDNCBI36
Celera514,735,133 - 14,735,283RGD
Cytogenetic Map5p15.1UniSTS
HuRef514,683,977 - 14,684,127UniSTS
TNG Radiation Hybrid Map57408.0UniSTS
Whitehead-RH Map548.9UniSTS
NCBI RH Map553.1UniSTS
D10S16   No map positions available.
G32452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37514,710,799 - 14,710,901UniSTSGRCh37
Celera514,734,757 - 14,734,859UniSTS
Cytogenetic Map5p15.1UniSTS
HuRef514,683,601 - 14,683,703UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2438 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3733 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_054027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011514067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017009644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054352936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB046801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025456 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF274753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ008340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU193060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA126651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000284268   ⟹   ENSP00000284268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl514,704,800 - 14,871,778 (-)Ensembl
Ensembl Acc Id: ENST00000502585
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl514,711,088 - 14,717,088 (-)Ensembl
Ensembl Acc Id: ENST00000503389
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl514,769,007 - 14,788,217 (-)Ensembl
Ensembl Acc Id: ENST00000503939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl514,741,292 - 14,755,888 (-)Ensembl
Ensembl Acc Id: ENST00000505140   ⟹   ENSP00000426332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl514,868,709 - 14,871,726 (-)Ensembl
Ensembl Acc Id: ENST00000513115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl514,768,616 - 14,871,472 (-)Ensembl
Ensembl Acc Id: ENST00000515517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl514,741,457 - 14,749,227 (-)Ensembl
Ensembl Acc Id: ENST00000646501   ⟹   ENSP00000494403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl514,768,162 - 14,769,150 (-)Ensembl
Ensembl Acc Id: ENST00000647541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl514,868,415 - 14,870,362 (-)Ensembl
RefSeq Acc Id: NM_054027   ⟹   NP_473368
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38514,704,800 - 14,871,778 (-)NCBI
GRCh37514,704,909 - 14,871,887 (-)ENTREZGENE
GRCh37514,704,909 - 14,871,887 (-)NCBI
Build 36514,762,019 - 14,924,876 (-)NCBI Archive
HuRef514,677,712 - 14,844,731 (-)ENTREZGENE
CHM1_1514,704,654 - 14,871,772 (-)NCBI
T2T-CHM13v2.0514,644,272 - 14,811,218 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011514067   ⟹   XP_011512369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38514,741,233 - 14,871,778 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017009644   ⟹   XP_016865133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38514,704,800 - 14,798,421 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054352936   ⟹   XP_054208911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0514,680,717 - 14,811,218 (-)NCBI
RefSeq Acc Id: NP_473368   ⟸   NM_054027
- UniProtKB: D3DTD4 (UniProtKB/Swiss-Prot),   B3KMG4 (UniProtKB/Swiss-Prot),   B2RCA7 (UniProtKB/Swiss-Prot),   Q9NQW2 (UniProtKB/Swiss-Prot),   Q9HCJ1 (UniProtKB/Swiss-Prot),   Q53HE9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512369   ⟸   XM_011514067
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_016865133   ⟸   XM_017009644
- Peptide Label: isoform X1
- UniProtKB: Q53HE9 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000426332   ⟸   ENST00000505140
Ensembl Acc Id: ENSP00000284268   ⟸   ENST00000284268
Ensembl Acc Id: ENSP00000494403   ⟸   ENST00000646501
RefSeq Acc Id: XP_054208911   ⟸   XM_054352936
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9HCJ1-F1-model_v2 AlphaFold Q9HCJ1 1-492 view protein structure

Promoters
RGD ID:6869272
Promoter ID:EPDNEW_H7800
Type:initiation region
Name:ANKH_1
Description:ANKH inorganic pyrophosphate transport regulator
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
GRCh38514,871,778 - 14,871,838EPDNEW
RGD ID:6802851
Promoter ID:HG_KWN:49813
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_054027
Position:
Human AssemblyChrPosition (strand)Source
Build 36514,924,921 - 14,925,747 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:15492 AgrOrtholog
COSMIC ANKH COSMIC
Ensembl Genes ENSG00000154122 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000284268 ENTREZGENE
  ENST00000284268.8 UniProtKB/Swiss-Prot
  ENST00000505140.1 UniProtKB/TrEMBL
  ENST00000646501.1 UniProtKB/TrEMBL
GTEx ENSG00000154122 GTEx
HGNC ID HGNC:15492 ENTREZGENE
Human Proteome Map ANKH Human Proteome Map
InterPro ANKH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56172 UniProtKB/Swiss-Prot
NCBI Gene 56172 ENTREZGENE
OMIM 605145 OMIM
PANTHER PROGRESSIVE ANKYLOSIS PROTEIN HOMOLOG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR28384 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ANKH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24801 PharmGKB
UniProt A0A2R8Y5E7_HUMAN UniProtKB/TrEMBL
  ANKH_HUMAN UniProtKB/Swiss-Prot
  B2RCA7 ENTREZGENE
  B3KMG4 ENTREZGENE
  D3DTD4 ENTREZGENE
  D6RGI5_HUMAN UniProtKB/TrEMBL
  Q53HE9 ENTREZGENE, UniProtKB/TrEMBL
  Q9HCJ1 ENTREZGENE
  Q9NQW2 ENTREZGENE
UniProt Secondary B2RCA7 UniProtKB/Swiss-Prot
  B3KMG4 UniProtKB/Swiss-Prot
  D3DTD4 UniProtKB/Swiss-Prot
  Q9NQW2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 ANKH  ANKH inorganic pyrophosphate transport regulator  CMDJ  craniometaphyseal dysplasia, Jackson type (dominant)  Data merged from RGD:1348222 737654 PROVISIONAL
2013-06-25 ANKH  ANKH inorganic pyrophosphate transport regulator  ANKH  ankylosis, progressive homolog (mouse)  Symbol and/or name change 5135510 APPROVED