PHEX (phosphate regulating endopeptidase homolog X-linked) - Rat Genome Database

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Gene: PHEX (phosphate regulating endopeptidase homolog X-linked) Homo sapiens
Analyze
Symbol: PHEX
Name: phosphate regulating endopeptidase homolog X-linked
RGD ID: 733664
HGNC Page HGNC
Description: Predicted to have metalloendopeptidase activity. Involved in proteolysis. Predicted to localize to plasma membrane. Implicated in X-linked dominant hypophosphatemic rickets.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: HPDR; HPDR1; HYP; HYP1; LXHR; metalloendopeptidase homolog PEX; PEX; phosphate regulating endopeptidase homolog, X-linked; phosphate regulating endopeptidase homolog, X-linked (hypophosphatemia, vitamin D resistant rickets); phosphate regulating gene with homologies to endopeptidases on the x chromosome; phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets); phosphate-regulating neutral endopeptidase; phosphate-regulating neutral endopeptidase PHEX; vitamin D-resistant hypophosphatemic rickets protein; X-linked hypophosphatemia protein; XLH
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX22,032,325 - 22,251,310 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX22,032,325 - 22,494,713 (+)EnsemblGRCh38hg38GRCh38
GRCh38X22,032,325 - 22,251,310 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X22,050,443 - 22,269,427 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,960,842 - 22,176,399 (+)NCBINCBI36hg18NCBI36
Build 34X21,810,215 - 22,025,985NCBI
CeleraX26,171,770 - 26,387,304 (+)NCBI
Cytogenetic MapXp22.11NCBI
HuRefX19,791,354 - 20,006,299 (+)NCBIHuRef
CHM1_1X22,081,014 - 22,300,110 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(2E,4E)-hexa-2,4-dienoic acid  (ISO)
1,4-dioxane  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-diaminotoluene  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
3-methylcholanthrene  (ISO)
7,12-dimethyltetraphene  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
aflatoxin M1  (EXP)
alachlor  (ISO)
all-trans-retinoic acid  (ISO)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
anthracene-1,8,9-triol  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
avobenzone  (EXP)
benzo[a]pyrene  (EXP,ISO)
biphenyl-2-ol  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
butanal  (EXP)
butylated hydroxyanisole  (ISO)
cadmium dichloride  (ISO)
caffeine  (ISO)
calcitriol  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
DDT  (ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
erythrosin B  (ISO)
fenvalerate  (ISO)
glycerol 2-phosphate  (EXP)
iron dichloride  (ISO)
iron trichloride  (ISO)
levamisole  (EXP)
Mezerein  (ISO)
nitrofen  (ISO)
oxaliplatin  (ISO)
phenobarbital  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
phosphonoformic acid  (EXP)
phosphorus atom  (EXP)
phosphorus(.)  (EXP)
pioglitazone  (ISO)
pirinixic acid  (ISO)
propionic acid  (ISO)
saccharin  (ISO)
silicon dioxide  (EXP,ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
styrene oxide  (ISO)
thyroxine  (ISO)
tin(II) chloride (anhydrous)  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
XL147  (ISO)
zinc dichloride  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormality of epiphysis morphology  (IAGP)
Abnormality of lower-limb metaphyses  (IAGP)
Abnormality of pelvic girdle bone morphology  (IAGP)
Arnold-Chiari malformation  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Beaded ribs  (IAGP)
Bone pain  (IAGP)
Bowing of the legs  (IAGP)
Cellulitis  (IAGP)
Craniosynostosis  (IAGP)
Delayed ability to stand  (IAGP)
Delayed ability to walk  (IAGP)
Disproportionate short stature  (IAGP)
Elevated alkaline phosphatase  (IAGP)
Elevated circulating parathyroid hormone level  (IAGP)
Enlargement of the costochondral junction  (IAGP)
Enthesitis  (IAGP)
Femoral bowing  (IAGP)
Fibular bowing  (IAGP)
Flared iliac wing  (IAGP)
Flattening of the talar dome  (IAGP)
Frontal bossing  (IAGP)
Generalized osteosclerosis  (IAGP)
Genu valgum  (IAGP)
Genu varum  (IAGP)
Hypocalciuria  (IAGP)
Hypomineralization of enamel  (IAGP)
Hypophosphatemia  (IAGP)
Hypophosphatemic rickets  (IAGP)
Limitation of joint mobility  (IAGP)
Metaphyseal irregularity  (IAGP)
Osteoarthritis  (IAGP)
Osteomalacia  (IAGP)
Rachitic rosary  (IAGP)
Renal phosphate wasting  (IAGP)
Renal tubular dysfunction  (IAGP)
Rickets  (IAGP)
Sacroiliac joint synovitis  (IAGP)
Schizophrenia  (IAGP)
Sensorineural hearing impairment  (IAGP)
Shell teeth  (IAGP)
Short stature  (IAGP)
Shortening of the talar neck  (IAGP)
Spinal canal stenosis  (IAGP)
Spinal cord compression  (IAGP)
Thick growth plates  (IAGP)
Tibial bowing  (IAGP)
Tooth abscess  (IAGP)
Trapezoidal distal femoral condyles  (IAGP)
Upper limb metaphyseal widening  (IAGP)
Vertebral hyperostosis  (IAGP)
X-linked dominant inheritance  (IAGP)
References

Additional References at PubMed
PMID:2163973   PMID:8889548   PMID:9070861   PMID:9077527   PMID:9097956   PMID:9199930   PMID:9199999   PMID:9593714   PMID:9690034   PMID:9768646   PMID:9768674   PMID:10069185  
PMID:10439971   PMID:10460513   PMID:10620182   PMID:10737991   PMID:11004247   PMID:11311133   PMID:11336925   PMID:11409890   PMID:11468271   PMID:11502821   PMID:11502829   PMID:11805167  
PMID:12477932   PMID:12678920   PMID:12727977   PMID:12791601   PMID:12874285   PMID:15057978   PMID:15268897   PMID:15337762   PMID:15470265   PMID:15489334   PMID:15772651   PMID:15818436  
PMID:15896324   PMID:15940367   PMID:16055933   PMID:16303832   PMID:16437029   PMID:16636593   PMID:17406123   PMID:18046499   PMID:18067320   PMID:18162710   PMID:18172553   PMID:18214537  
PMID:18252791   PMID:18455459   PMID:18625346   PMID:18660670   PMID:19219621   PMID:19309785   PMID:19429806   PMID:19513579   PMID:19581284   PMID:19775205   PMID:20424473   PMID:20578943  
PMID:20664300   PMID:20817730   PMID:20835608   PMID:21050253   PMID:21293852   PMID:21326311   PMID:21553362   PMID:21826652   PMID:21873635   PMID:21902707   PMID:21902834   PMID:22101457  
PMID:22319799   PMID:22339660   PMID:22577109   PMID:22610502   PMID:22695891   PMID:22713460   PMID:22889924   PMID:23079138   PMID:23813354   PMID:24078575   PMID:24489884   PMID:24836714  
PMID:24857004   PMID:25042154   PMID:25839938   PMID:26051471   PMID:26107949   PMID:26362198   PMID:26894575   PMID:27270332   PMID:27840894   PMID:28222744   PMID:28383812   PMID:28397222  
PMID:28506344   PMID:28514442   PMID:28880715   PMID:28981921   PMID:29393334   PMID:29460029   PMID:29505567   PMID:29858904   PMID:30298486   PMID:30406928   PMID:30440055   PMID:30920082  
PMID:31474501   PMID:31927522   PMID:32772199  


Genomics

Comparative Map Data
PHEX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX22,032,325 - 22,251,310 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX22,032,325 - 22,494,713 (+)EnsemblGRCh38hg38GRCh38
GRCh38X22,032,325 - 22,251,310 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X22,050,443 - 22,269,427 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,960,842 - 22,176,399 (+)NCBINCBI36hg18NCBI36
Build 34X21,810,215 - 22,025,985NCBI
CeleraX26,171,770 - 26,387,304 (+)NCBI
Cytogenetic MapXp22.11NCBI
HuRefX19,791,354 - 20,006,299 (+)NCBIHuRef
CHM1_1X22,081,014 - 22,300,110 (+)NCBICHM1_1
Phex
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X155,945,071 - 156,198,282 (-)NCBIGRCm39mm39
GRCm39 EnsemblX155,945,071 - 156,198,308 (-)Ensembl
GRCm38X157,162,075 - 157,415,286 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX157,162,075 - 157,415,312 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X153,596,618 - 153,853,218 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X152,502,794 - 152,759,383 (-)NCBImm8
CeleraX140,419,752 - 140,667,816 (-)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX72.38NCBI
Phex
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X37,607,553 - 37,856,183 (+)NCBI
Rnor_6.0 EnsemblX40,460,047 - 40,717,982 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X40,460,047 - 40,717,982 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X40,772,810 - 41,031,710 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X58,911,144 - 59,168,857 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X58,964,612 - 59,222,310 (+)NCBI
CeleraX38,233,227 - 38,472,933 (+)NCBICelera
Cytogenetic MapXq21NCBI
Phex
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555092,357,263 - 2,546,802 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555092,357,263 - 2,546,802 (+)NCBIChiLan1.0ChiLan1.0
PHEX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X22,017,678 - 22,235,560 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX22,017,681 - 22,232,501 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X14,663,847 - 14,859,294 (+)NCBIMhudiblu_PPA_v0panPan3
PHEX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X17,830,714 - 18,038,755 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX17,829,158 - 18,035,775 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X17,788,714 - 17,997,786 (+)NCBI
UMICH_Zoey_3.1X17,822,506 - 18,032,213 (+)NCBI
UNSW_CanFamBas_1.0X17,844,194 - 18,054,186 (+)NCBI
UU_Cfam_GSD_1.0X17,904,817 - 18,114,749 (+)NCBI
Phex
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X10,843,339 - 11,033,426 (+)NCBI
SpeTri2.0NW_0049366242,124,479 - 2,312,847 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PHEX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX18,203,174 - 18,418,004 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X18,199,396 - 18,420,985 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X19,362,855 - 19,605,399 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PHEX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X20,507,619 - 20,733,367 (+)NCBI
ChlSab1.1 EnsemblX20,522,498 - 20,734,599 (+)Ensembl
Phex
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248296,960,740 - 7,151,752 (+)NCBI

Position Markers
DXS7759  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X22,265,280 - 22,265,339UniSTSGRCh37
Build 36X22,175,201 - 22,175,260RGDNCBI36
CeleraX26,386,106 - 26,386,165RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX20,005,101 - 20,005,160UniSTS
RH80232  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X22,266,076 - 22,266,318UniSTSGRCh37
Build 36X22,175,997 - 22,176,239RGDNCBI36
CeleraX26,386,902 - 26,387,144RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX20,005,897 - 20,006,139UniSTS
GeneMap99-GB4 RH MapX95.62UniSTS
DXS1314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X22,124,967 - 22,125,034UniSTSGRCh37
Build 36X22,034,888 - 22,034,955RGDNCBI36
CeleraX26,245,798 - 26,245,865RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX19,864,654 - 19,864,721UniSTS
DXS1464  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X22,203,377 - 22,203,487UniSTSGRCh37
GRCh37X22,203,495 - 22,203,565UniSTSGRCh37
Build 36X22,113,416 - 22,113,486RGDNCBI36
CeleraX26,324,329 - 26,324,399RGD
CeleraX26,324,211 - 26,324,321UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX19,942,635 - 19,942,705UniSTS
HuRefX19,942,517 - 19,942,627UniSTS
WI-13816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X22,180,860 - 22,181,009UniSTSGRCh37
Build 36X22,090,781 - 22,090,930RGDNCBI36
CeleraX26,301,694 - 26,301,843RGD
Cytogenetic MapXp22.2-p22.1UniSTS
HuRefX19,920,081 - 19,920,230UniSTS
GeneMap99-GB4 RH MapX98.93UniSTS
Whitehead-RH MapX16.7UniSTS
NCBI RH MapX43.0UniSTS
DXS1464  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.2-p22.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3258
Count of miRNA genes:1231
Interacting mature miRNAs:1576
Transcripts:ENST00000379374, ENST00000418858, ENST00000475778, ENST00000535894, ENST00000537599
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, 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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 3 33 55 2 4 4 1 24 123 1
Low 1038 197 735 110 419 50 302 667 1697 141 706 1319 70 15 148
Below cutoff 1349 2588 815 375 1255 277 3894 1338 2004 259 709 157 100 1163 2515 4

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000444 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AD000712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU680665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU111712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HI574100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U60475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U73024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U75645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U82970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U87284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y08132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y10196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000379374   ⟹   ENSP00000368682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX22,032,325 - 22,251,310 (+)Ensembl
RefSeq Acc Id: ENST00000456621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX22,428,132 - 22,494,713 (+)Ensembl
RefSeq Acc Id: ENST00000475778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX22,090,493 - 22,099,363 (+)Ensembl
RefSeq Acc Id: ENST00000682888   ⟹   ENSP00000508003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX22,136,574 - 22,226,508 (+)Ensembl
RefSeq Acc Id: ENST00000683162   ⟹   ENSP00000508059
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX22,136,501 - 22,249,312 (+)Ensembl
RefSeq Acc Id: ENST00000683214
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX22,032,580 - 22,077,708 (+)Ensembl
RefSeq Acc Id: ENST00000683289   ⟹   ENSP00000508195
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX22,136,546 - 22,431,605 (+)Ensembl
RefSeq Acc Id: ENST00000683917
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX22,136,212 - 22,248,631 (+)Ensembl
RefSeq Acc Id: ENST00000684143   ⟹   ENSP00000508264
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX22,032,581 - 22,114,571 (+)Ensembl
RefSeq Acc Id: ENST00000684356   ⟹   ENSP00000507619
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX22,136,587 - 22,248,999 (+)Ensembl
RefSeq Acc Id: ENST00000684745
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX22,060,834 - 22,248,361 (+)Ensembl
RefSeq Acc Id: NM_000444   ⟹   NP_000435
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X22,032,325 - 22,251,310 (+)NCBI
GRCh37X22,050,921 - 22,266,478 (+)ENTREZGENE
GRCh37X22,050,921 - 22,266,478 (+)NCBI
Build 36X21,960,842 - 22,176,399 (+)NCBI Archive
HuRefX19,790,995 - 20,009,270 (+)NCBI
CHM1_1X22,081,014 - 22,300,110 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282754   ⟹   NP_001269683
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X22,032,325 - 22,251,310 (+)NCBI
HuRefX19,790,995 - 20,009,270 (+)NCBI
CHM1_1X22,081,014 - 22,300,110 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545533   ⟹   XP_011543835
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X22,086,260 - 22,251,307 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545536   ⟹   XP_011543838
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X22,104,458 - 22,251,307 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029579   ⟹   XP_016885068
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X22,047,177 - 22,251,307 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024452390   ⟹   XP_024308158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X22,038,175 - 22,251,307 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001755695
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X22,032,327 - 22,251,307 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000435   ⟸   NM_000444
- Peptide Label: isoform 1
- UniProtKB: P78562 (UniProtKB/Swiss-Prot),   B4DWG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269683   ⟸   NM_001282754
- Peptide Label: isoform 2
- UniProtKB: P78562 (UniProtKB/Swiss-Prot),   B4DNS0 (UniProtKB/TrEMBL),   B4DWG8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543835   ⟸   XM_011545533
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011543838   ⟸   XM_011545536
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885068   ⟸   XM_017029579
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024308158   ⟸   XM_024452390
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000368682   ⟸   ENST00000379374
RefSeq Acc Id: ENSP00000508059   ⟸   ENST00000683162
RefSeq Acc Id: ENSP00000508264   ⟸   ENST00000684143
RefSeq Acc Id: ENSP00000507619   ⟸   ENST00000684356
RefSeq Acc Id: ENSP00000508195   ⟸   ENST00000683289
RefSeq Acc Id: ENSP00000508003   ⟸   ENST00000682888
Promoters
RGD ID:13604916
Promoter ID:EPDNEW_H28642
Type:initiation region
Name:PHEX_1
Description:phosphate regulating endopeptidase homolog, X-linked
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28643  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X22,032,325 - 22,032,385EPDNEW
RGD ID:13604918
Promoter ID:EPDNEW_H28643
Type:initiation region
Name:PHEX_2
Description:phosphate regulating endopeptidase homolog, X-linked
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28642  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X22,032,465 - 22,032,525EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000444.6(PHEX):c.187+1G>A single nucleotide variant not provided [RCV000518394] ChrX:22038538 [GRCh38]
ChrX:22056656 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.663+1G>A single nucleotide variant not provided [RCV000519436] ChrX:22077703 [GRCh38]
ChrX:22095821 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1030_1038del (p.Pro344_Tyr346del) deletion not specified [RCV000516208] ChrX:22099101..22099109 [GRCh38]
ChrX:22117219..22117227 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990519]|not provided [RCV000521636] ChrX:22099109 [GRCh38]
ChrX:22117227 [GRCh37]
ChrX:Xp22.11
likely pathogenic
PHEX, 2-BP DEL, 675TC deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011560] ChrX:Xp22.2-p22.1 pathogenic
PHEX, IVS1AS, G-A, -1 single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011561] ChrX:Xp22.2-p22.1 pathogenic
PHEX, IVS1AS, G-C, -1 single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011562] ChrX:Xp22.2-p22.1 pathogenic
PHEX, A-G, NT-429 single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011567] ChrX:Xp22.2-p22.1 pathogenic
NM_000444.6(PHEX):c.849+1268G>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011568] ChrX:22095367 [GRCh38]
ChrX:22113485 [GRCh37]
ChrX:Xp22.11
pathogenic
PHEX, IVS4, T-C, +6 single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011570] ChrX:Xp22.2-p22.1 pathogenic
NM_000444.6(PHEX):c.1645+6T>A single nucleotide variant not provided [RCV000520513] ChrX:22190508 [GRCh38]
ChrX:22208625 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.830T>A (p.Leu277Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011563] ChrX:22094080 [GRCh38]
ChrX:22112198 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.254G>A (p.Cys85Tyr) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011564] ChrX:22047116 [GRCh38]
ChrX:22065234 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1664T>C (p.Leu555Pro) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011566]|not provided [RCV001202583] ChrX:22212922 [GRCh38]
ChrX:22231039 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011569]|not provided [RCV000414471] ChrX:22212957 [GRCh38]
ChrX:22231074 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1404+2T>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000030352] ChrX:22133626 [GRCh38]
ChrX:22151743 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000030353] ChrX:22190446 [GRCh38]
ChrX:22208563 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000030354] ChrX:22226492 [GRCh38]
ChrX:22244609 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000030355]|not provided [RCV001220680] ChrX:22227540 [GRCh38]
ChrX:22245657 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000030356]|not provided [RCV001211408] ChrX:22047180 [GRCh38]
ChrX:22065298 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.349+1G>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000030357]|not provided [RCV000486450] ChrX:22047212 [GRCh38]
ChrX:22065330 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.884_885dup (p.Met296fs) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000030358] ChrX:22096988..22096989 [GRCh38]
ChrX:22115106..22115107 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.5(PHEX):c.1404+9050T>C single nucleotide variant Lung cancer [RCV000102472] ChrX:22142674 [GRCh38]
ChrX:22160791 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.11(chrX:22099135-22109767)x0 copy number loss See cases [RCV000053062] ChrX:22099135..22109767 [GRCh38]
ChrX:22117253..22127885 [GRCh37]
ChrX:22027174..22037806 [NCBI36]
ChrX:Xp22.11
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000444.6(PHEX):c.976_977CT[1] (p.Tyr327fs) microsatellite not provided [RCV001062698] ChrX:22099048..22099049 [GRCh38]
ChrX:22117166..22117167 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000444.6(PHEX):c.613del (p.Arg205fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001293726] ChrX:22077651 [GRCh38]
ChrX:22095769 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.11(chrX:22173842-22186370)x2 copy number gain See cases [RCV000143466] ChrX:22173842..22186370 [GRCh38]
ChrX:22191959..22204487 [GRCh37]
ChrX:22101880..22114408 [NCBI36]
ChrX:Xp22.11
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001168751]|not provided [RCV000176266] ChrX:22247917 [GRCh38]
ChrX:22266034 [GRCh37]
ChrX:Xp22.11
likely benign|uncertain significance
NM_000444.6(PHEX):c.134T>A (p.Leu45Ter) single nucleotide variant not provided [RCV000254763] ChrX:22038484 [GRCh38]
ChrX:22056602 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1209G>A (p.Trp403Ter) single nucleotide variant not provided [RCV000254850] ChrX:22114493 [GRCh38]
ChrX:22132611 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1204C>T (p.Gln402Ter) single nucleotide variant not provided [RCV000254872] ChrX:22114488 [GRCh38]
ChrX:22132606 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1363G>T (p.Glu455Ter) single nucleotide variant not provided [RCV000255187] ChrX:22133583 [GRCh38]
ChrX:22151700 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.850del (p.Glu283_Ile284insTer) deletion not provided [RCV000255244] ChrX:22096955 [GRCh38]
ChrX:22115073 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000366699]|not specified [RCV000435979] ChrX:22033015 [GRCh38]
ChrX:22051133 [GRCh37]
ChrX:Xp22.11
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000211521]|Vitamin D-dependent rickets, type 2 [RCV000578203]|not provided [RCV000396672] ChrX:22219070 [GRCh38]
ChrX:22237187 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000444.6(PHEX):c.1899+1G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990540]|not provided [RCV000516827] ChrX:22221744 [GRCh38]
ChrX:22239861 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000444.6(PHEX):c.1079+1G>A single nucleotide variant not provided [RCV000255760] ChrX:22099152 [GRCh38]
ChrX:22117270 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1769-10C>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000286035]|not specified [RCV000244555] ChrX:22221603 [GRCh38]
ChrX:22239720 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.219_220TG[1] (p.Val74fs) microsatellite not provided [RCV000256035] ChrX:22047081..22047082 [GRCh38]
ChrX:22065199..22065200 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_000444.6(PHEX):c.538del (p.Trp180fs) deletion not provided [RCV000256152] ChrX:22077575 [GRCh38]
ChrX:22095693 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000444.6(PHEX):c.*48G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000291816] ChrX:22248001 [GRCh38]
ChrX:22266118 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.489A>G (p.Ser163=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000277994]|not provided [RCV000901480]|not specified [RCV000439287] ChrX:22077528 [GRCh38]
ChrX:22095646 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_000444.6(PHEX):c.700G>A (p.Asp234Asn) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000355092] ChrX:22090465 [GRCh38]
ChrX:22108583 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.*388A>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000356831] ChrX:22248341 [GRCh38]
ChrX:22266458 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_000444.6(PHEX):c.1587-1G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001169961]|not provided [RCV000269158] ChrX:22190443 [GRCh38]
ChrX:22208560 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1434T>A (p.Tyr478Ter) single nucleotide variant not provided [RCV000273379] ChrX:22168341 [GRCh38]
ChrX:22186458 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.779dup (p.Leu260fs) duplication not provided [RCV000275480] ChrX:22094025..22094026 [GRCh38]
ChrX:22112143..22112144 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1843dup (p.Thr615fs) duplication not provided [RCV000280710] ChrX:22221681..22221682 [GRCh38]
ChrX:22239798..22239799 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.448A>T (p.Lys150Ter) single nucleotide variant not provided [RCV000281027] ChrX:22077487 [GRCh38]
ChrX:22095605 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) single nucleotide variant not provided [RCV000280838] ChrX:22190502 [GRCh38]
ChrX:22208619 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505395]|not provided [RCV000285863] ChrX:22227520 [GRCh38]
ChrX:22245637 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1675T>C (p.Phe559Leu) single nucleotide variant not provided [RCV000340711] ChrX:22212933 [GRCh38]
ChrX:22231050 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.*250A>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000311519] ChrX:22248203 [GRCh38]
ChrX:22266320 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.118+7G>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000312989]|not provided [RCV000920929] ChrX:22033130 [GRCh38]
ChrX:22051248 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter) duplication not provided [RCV000291546] ChrX:22227599..22227600 [GRCh38]
ChrX:22245716..22245717 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.617T>A (p.Leu206Ter) single nucleotide variant not provided [RCV000295872] ChrX:22077656 [GRCh38]
ChrX:22095774 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.664-1G>A single nucleotide variant not provided [RCV000297789] ChrX:22090428 [GRCh38]
ChrX:22108546 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.33T>C (p.Thr11=) single nucleotide variant not provided [RCV000378137] ChrX:22033038 [GRCh38]
ChrX:22051156 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1917C>A (p.Thr639=) single nucleotide variant not provided [RCV000378480] ChrX:22226460 [GRCh38]
ChrX:22244577 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.285C>G (p.Pro95=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000367901] ChrX:22047147 [GRCh38]
ChrX:22065265 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1935_1938dup (p.Asn647Ter) duplication not provided [RCV000306173] ChrX:22226477..22226478 [GRCh38]
ChrX:22244594..22244595 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1828_1829dup (p.Phe611fs) duplication not provided [RCV000309078] ChrX:22221669..22221670 [GRCh38]
ChrX:22239786..22239787 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1080-2A>G single nucleotide variant not provided [RCV000309115] ChrX:22111465 [GRCh38]
ChrX:22129583 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2193del (p.Phe731fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505421]|not provided [RCV000307183] ChrX:22247893 [GRCh38]
ChrX:22266010 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1025G>A (p.Arg342His) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000319071] ChrX:22099097 [GRCh38]
ChrX:22117215 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.2138dup (p.Gln714fs) duplication not provided [RCV000311640] ChrX:22245395..22245396 [GRCh38]
ChrX:22263512..22263513 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505471]|not provided [RCV000315034] ChrX:22245366 [GRCh38]
ChrX:22263483 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1309dup (p.Glu437fs) duplication not provided [RCV000317020] ChrX:22133527..22133528 [GRCh38]
ChrX:22151644..22151645 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) single nucleotide variant not provided [RCV000413461] ChrX:22133588 [GRCh38]
ChrX:22151705 [GRCh37]
ChrX:Xp22.11
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000444.6(PHEX):c.-10G>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000307289]|not provided [RCV000767333] ChrX:22032996 [GRCh38]
ChrX:22051114 [GRCh37]
ChrX:Xp22.11
uncertain significance|not provided
NM_000444.6(PHEX):c.1374T>C (p.Asp458=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000320407] ChrX:22133594 [GRCh38]
ChrX:22151711 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1026C>T (p.Arg342=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000373854] ChrX:22099098 [GRCh38]
ChrX:22117216 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1779_1782dup (p.Lys595Ter) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505494]|not provided [RCV000316029] ChrX:22221622..22221623 [GRCh38]
ChrX:22239740..22239743 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990538]|not provided [RCV000321756] ChrX:22221696..22221697 [GRCh38]
ChrX:22239813..22239814 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1685dup (p.Thr563fs) duplication not provided [RCV000322938] ChrX:22212939..22212940 [GRCh38]
ChrX:22231056..22231057 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1800dup (p.Pro601fs) duplication not provided [RCV000324307] ChrX:22221643..22221644 [GRCh38]
ChrX:22239760..22239761 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1206A>G (p.Gln402=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000284021]|not provided [RCV000882843]|not specified [RCV000427694] ChrX:22114490 [GRCh38]
ChrX:22132608 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_000444.6(PHEX):c.2147+1G>A single nucleotide variant not provided [RCV000329994] ChrX:22245410 [GRCh38]
ChrX:22263527 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1768+1G>C single nucleotide variant not provided [RCV000330628] ChrX:22219104 [GRCh38]
ChrX:22237221 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1543C>T (p.Gln515Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505394]|not provided [RCV000333172] ChrX:22178333 [GRCh38]
ChrX:22196450 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1241del (p.Leu414fs) deletion not provided [RCV000335413] ChrX:22114525 [GRCh38]
ChrX:22132643 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1586+3_1586+6del microsatellite Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505446]|not provided [RCV000316107] ChrX:22178375..22178378 [GRCh38]
ChrX:22196496..22196499 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000444.6(PHEX):c.-108A>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000286873] ChrX:22032898 [GRCh38]
ChrX:22051016 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_000444.6(PHEX):c.1655C>T (p.Ala552Val) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000379705] ChrX:22212913 [GRCh38]
ChrX:22231030 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1645+1G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505469]|not provided [RCV000336154] ChrX:22190503 [GRCh38]
ChrX:22208620 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.154G>T (p.Glu52Ter) single nucleotide variant not provided [RCV000336630] ChrX:22038504 [GRCh38]
ChrX:22056622 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.67del (p.Leu23fs) deletion not provided [RCV000343368] ChrX:22033070 [GRCh38]
ChrX:22051188 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2064T>A (p.Tyr688Ter) single nucleotide variant not provided [RCV000346510] ChrX:22227605 [GRCh38]
ChrX:22245722 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.508_529del (p.Leu170fs) deletion not provided [RCV000346647] ChrX:22077545..22077566 [GRCh38]
ChrX:22095663..22095684 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1080-1G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000763206]|not provided [RCV000350821] ChrX:22111466 [GRCh38]
ChrX:22129584 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505449]|not provided [RCV000351204] ChrX:22247942 [GRCh38]
ChrX:22266059 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2052C>T (p.Phe684=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000405090] ChrX:22227593 [GRCh38]
ChrX:22245710 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.537T>A (p.Val179=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000332927]|not provided [RCV000901481]|not specified [RCV000422054] ChrX:22077576 [GRCh38]
ChrX:22095694 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_000444.6(PHEX):c.*227C>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000405914] ChrX:22248180 [GRCh38]
ChrX:22266297 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.81C>T (p.Val27=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000394191]|not provided [RCV000959721] ChrX:22033086 [GRCh38]
ChrX:22051204 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_000444.6(PHEX):c.1367G>A (p.Trp456Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505473]|not provided [RCV000368437] ChrX:22133587 [GRCh38]
ChrX:22151704 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1586_1586+1del microsatellite not provided [RCV000369200] ChrX:22178374..22178375 [GRCh38]
ChrX:22196491..22196492 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.941G>A (p.Trp314Ter) single nucleotide variant not provided [RCV000374807] ChrX:22099013 [GRCh38]
ChrX:22117131 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.733-1G>A single nucleotide variant not provided [RCV000375232] ChrX:22093982 [GRCh38]
ChrX:22112100 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1806G>A (p.Trp602Ter) single nucleotide variant not provided [RCV000375259] ChrX:22221650 [GRCh38]
ChrX:22239767 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.957G>A (p.Lys319=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000259231]|not specified [RCV000517603] ChrX:22099029 [GRCh38]
ChrX:22117147 [GRCh37]
ChrX:Xp22.11
benign|uncertain significance
NM_000444.6(PHEX):c.-90A>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000341947] ChrX:22032916 [GRCh38]
ChrX:22051034 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.*360A>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000396930] ChrX:22248313 [GRCh38]
ChrX:22266430 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1936_1939dup (p.Asn647delinsArgTer) duplication not provided [RCV000380313] ChrX:22226478..22226479 [GRCh38]
ChrX:22244595..22244596 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2048_2051dup (p.Phe685fs) duplication not provided [RCV000383530] ChrX:22227588..22227589 [GRCh38]
ChrX:22245705..22245706 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.847_849+2del deletion not provided [RCV000390548] ChrX:22094096..22094100 [GRCh38]
ChrX:22112214..22112218 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.*361T>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000298739] ChrX:22248314 [GRCh38]
ChrX:22266431 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_000444.6(PHEX):c.1701-2A>G single nucleotide variant not provided [RCV000394268] ChrX:22219034 [GRCh38]
ChrX:22237151 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2071-1G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505481]|not provided [RCV000392446] ChrX:22245332 [GRCh38]
ChrX:22263449 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1989_1990del (p.Asp663fs) deletion not provided [RCV000399109] ChrX:22227529..22227530 [GRCh38]
ChrX:22245646..22245647 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1158G>A (p.Trp386Ter) single nucleotide variant not provided [RCV000402891] ChrX:22111545 [GRCh38]
ChrX:22129663 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1966-11T>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000345629] ChrX:22227496 [GRCh38]
ChrX:22245613 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.*218A>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000346613] ChrX:22248171 [GRCh38]
ChrX:22266288 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_000444.6(PHEX):c.733-2A>T single nucleotide variant not provided [RCV000402064] ChrX:22093981 [GRCh38]
ChrX:22112099 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1713T>G (p.Tyr571Ter) single nucleotide variant not provided [RCV000405748] ChrX:22219048 [GRCh38]
ChrX:22237165 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.-33C>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000405731] ChrX:22032973 [GRCh38]
ChrX:22051091 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001167037]|not provided [RCV000265639] ChrX:22114486 [GRCh38]
ChrX:22132604 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) single nucleotide variant not provided [RCV000726108]|not specified [RCV000369665] ChrX:22133564 [GRCh38]
ChrX:22151681 [GRCh37]
ChrX:Xp22.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000444.6(PHEX):c.*339A>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000352300] ChrX:22248292 [GRCh38]
ChrX:22266409 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505461]|not provided [RCV000260839] ChrX:22190458 [GRCh38]
ChrX:22208575 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.312T>G (p.Tyr104Ter) single nucleotide variant not provided [RCV000490200] ChrX:22047174 [GRCh38]
ChrX:22065292 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1809G>A (p.Trp603Ter) single nucleotide variant not provided [RCV000489292] ChrX:22221653 [GRCh38]
ChrX:22239770 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.611T>A (p.Ile204Asn) single nucleotide variant not provided [RCV000489507] ChrX:22077650 [GRCh38]
ChrX:22095768 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1645+5G>C single nucleotide variant not provided [RCV000489771] ChrX:22190507 [GRCh38]
ChrX:22208624 [GRCh37]
ChrX:Xp22.11
likely pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_000444.6(PHEX):c.1880G>A (p.Trp627Ter) single nucleotide variant not provided [RCV000489955] ChrX:22221724 [GRCh38]
ChrX:22239841 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505465]|not provided [RCV000488975] ChrX:22133586 [GRCh38]
ChrX:22151703 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.501G>A (p.Trp167Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000625611]|not provided [RCV001218566] ChrX:22077540 [GRCh38]
ChrX:22095658 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2071-5_2071-4delinsAG indel not specified [RCV000600460] ChrX:22245328..22245329 [GRCh38]
ChrX:22263445..22263446 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.1218T>A (p.Cys406Ter) single nucleotide variant not provided [RCV000579166] ChrX:22114502 [GRCh38]
ChrX:22132620 [GRCh37]
ChrX:Xp22.11
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000444.6(PHEX):c.2159C>A (p.Ala720Glu) single nucleotide variant not provided [RCV000414545] ChrX:22247862 [GRCh38]
ChrX:22265979 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1715G>T (p.Gly572Val) single nucleotide variant not provided [RCV000414654] ChrX:22219050 [GRCh38]
ChrX:22237167 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.2167_2170dup (p.Phe724Ter) duplication Bowing of the legs [RCV000414906] ChrX:22247868..22247869 [GRCh38]
ChrX:22265985..22265986 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.*231A>G single nucleotide variant not provided [RCV000734002] ChrX:22248184 [GRCh38]
ChrX:22266301 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.1173+2T>C single nucleotide variant not provided [RCV000412709] ChrX:22111562 [GRCh38]
ChrX:22129680 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1586+6T>G single nucleotide variant not provided [RCV000412767] ChrX:22178382 [GRCh38]
ChrX:22196499 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505415]|not provided [RCV000412793] ChrX:22096976 [GRCh38]
ChrX:22115094 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.436+1G>C single nucleotide variant not provided [RCV000412890] ChrX:22076475 [GRCh38]
ChrX:22094593 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1736G>T (p.Gly579Val) single nucleotide variant not provided [RCV000412906] ChrX:22219071 [GRCh38]
ChrX:22237188 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1768+2dup duplication not provided [RCV000412973] ChrX:22219104..22219105 [GRCh38]
ChrX:22237221..22237222 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser) single nucleotide variant not provided [RCV000413016] ChrX:22133533 [GRCh38]
ChrX:22151650 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1700G>C (p.Arg567Pro) single nucleotide variant not provided [RCV000413078] ChrX:22212958 [GRCh38]
ChrX:22231075 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1180C>T (p.Gln394Ter) single nucleotide variant not provided [RCV000413207] ChrX:22114464 [GRCh38]
ChrX:22132582 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.663+2T>A single nucleotide variant not provided [RCV000413368] ChrX:22077704 [GRCh38]
ChrX:22095822 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe) single nucleotide variant not provided [RCV000413405] ChrX:22247940 [GRCh38]
ChrX:22266057 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2070+1G>A single nucleotide variant not provided [RCV000413408] ChrX:22227612 [GRCh38]
ChrX:22245729 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.500G>A (p.Trp167Ter) single nucleotide variant not provided [RCV000413519] ChrX:22077539 [GRCh38]
ChrX:22095657 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2198G>A (p.Cys733Tyr) single nucleotide variant not provided [RCV000413547] ChrX:22247901 [GRCh38]
ChrX:22266018 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_000444.6(PHEX):c.1483-1G>A single nucleotide variant not provided [RCV000413596] ChrX:22178272 [GRCh38]
ChrX:22196389 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.883del (p.Ala295fs) deletion not provided [RCV000413674] ChrX:22096987 [GRCh38]
ChrX:22115105 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2028_2032dup (p.Phe678fs) duplication not provided [RCV000413688] ChrX:22227565..22227566 [GRCh38]
ChrX:22245682..22245683 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1715G>A (p.Gly572Asp) single nucleotide variant not provided [RCV000413745] ChrX:22219050 [GRCh38]
ChrX:22237167 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.2242_2243CT[1] (p.Trp749fs) microsatellite not provided [RCV000413761] ChrX:22247945..22247946 [GRCh38]
ChrX:22266062..22266063 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2070+5G>C single nucleotide variant not provided [RCV000413865] ChrX:22227616 [GRCh38]
ChrX:22245733 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.426C>A (p.Cys142Ter) single nucleotide variant not provided [RCV000414040] ChrX:22076464 [GRCh38]
ChrX:22094582 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1727_1738del (p.Val576_His580delinsAsp) deletion not provided [RCV000414105] ChrX:22219062..22219073 [GRCh38]
ChrX:22237179..22237190 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.503C>T (p.Pro168Leu) single nucleotide variant not provided [RCV000414149] ChrX:22077542 [GRCh38]
ChrX:22095660 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.436+1G>A single nucleotide variant not provided [RCV000519029] ChrX:22076475 [GRCh38]
ChrX:22094593 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2015T>C (p.Leu672Pro) single nucleotide variant not specified [RCV000414091] ChrX:22227556 [GRCh38]
ChrX:22245673 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1046dup (p.Asp349fs) duplication not provided [RCV000414311] ChrX:22099117..22099118 [GRCh38]
ChrX:22117235..22117236 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1586+2T>A single nucleotide variant not provided [RCV000414411] ChrX:22178378 [GRCh38]
ChrX:22196495 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.11(chrX:22129362-22129540)x3 copy number gain See cases [RCV000447337] ChrX:22129362..22129540 [GRCh37]
ChrX:Xp22.11
benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.11(chrX:22166967-22219901)x2 copy number gain See cases [RCV000446165] ChrX:22166967..22219901 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000444.6(PHEX):c.1482+16A>C single nucleotide variant not specified [RCV000427359] ChrX:22168405 [GRCh38]
ChrX:22186522 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.1739A>G (p.His580Arg) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000678304]|not provided [RCV000444535] ChrX:22219074 [GRCh38]
ChrX:22237191 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1461T>C (p.His487=) single nucleotide variant not specified [RCV000424154] ChrX:22168368 [GRCh38]
ChrX:22186485 [GRCh37]
ChrX:Xp22.11
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000444.6(PHEX):c.565C>T (p.Gln189Ter) single nucleotide variant not provided [RCV000418710] ChrX:22077604 [GRCh38]
ChrX:22095722 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1736G>A (p.Gly579Glu) single nucleotide variant not provided [RCV000419789] ChrX:22219071 [GRCh38]
ChrX:22237188 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1768+5G>T single nucleotide variant not provided [RCV000419875] ChrX:22219108 [GRCh38]
ChrX:22237225 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1900-1G>A single nucleotide variant not provided [RCV000424080] ChrX:22226442 [GRCh38]
ChrX:22244559 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1700+1G>T single nucleotide variant not provided [RCV000424738] ChrX:22212959 [GRCh38]
ChrX:22231076 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.849+1G>A single nucleotide variant not provided [RCV000425906] ChrX:22094100 [GRCh38]
ChrX:22112218 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.505G>A (p.Val169Met) single nucleotide variant not specified [RCV000425649] ChrX:22077544 [GRCh38]
ChrX:22095662 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.1866T>C (p.Tyr622=) single nucleotide variant not specified [RCV000432626] ChrX:22221710 [GRCh38]
ChrX:22239827 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.436+4A>G single nucleotide variant not provided [RCV000436155] ChrX:22076478 [GRCh38]
ChrX:22094596 [GRCh37]
ChrX:Xp22.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000444.6(PHEX):c.1717G>C (p.Ala573Pro) single nucleotide variant not provided [RCV000429437] ChrX:22219052 [GRCh38]
ChrX:22237169 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.185C>T (p.Ala62Val) single nucleotide variant not provided [RCV001063987]|not specified [RCV000433201] ChrX:22038535 [GRCh38]
ChrX:22056653 [GRCh37]
ChrX:Xp22.11
likely benign|uncertain significance
NC_000023.10:g.(22115157_22117149)_(22117270_22129584)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505389] ChrX:22099031..22099152 [GRCh38]
ChrX:22117149..22117270 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505391] ChrX:22227526..22227527 [GRCh38]
ChrX:22245643..22245644 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1768+1G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505392] ChrX:22219104 [GRCh38]
ChrX:22237221 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(22237221_22239729)_(22239861_22244559)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505393] ChrX:22221612..22221744 [GRCh38]
ChrX:22239729..22239861 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(22237221_22239729)_(22266070_?)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505396] ChrX:22221612..22247953 [GRCh38]
ChrX:22239729..22266070 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.732+5G>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505397] ChrX:22090502 [GRCh38]
ChrX:22108620 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.424del (p.Cys142fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505398] ChrX:22076462 [GRCh38]
ChrX:22094580 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2078G>A (p.Cys693Tyr) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505399]|not provided [RCV001064981] ChrX:22245340 [GRCh38]
ChrX:22263457 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1216T>C (p.Cys406Arg) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505400]|not provided [RCV001060115] ChrX:22114500 [GRCh38]
ChrX:22132618 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.1885_1888dup (p.Ala630fs) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505402] ChrX:22221725..22221726 [GRCh38]
ChrX:22239842..22239843 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1590G>C (p.Trp530Cys) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505403] ChrX:22190447 [GRCh38]
ChrX:22208564 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.22148200_22250155dup duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505404] ChrX:22130083..22232038 [GRCh38]
ChrX:22148200..22250155 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1754G>A (p.Gly585Glu) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505405] ChrX:22219089 [GRCh38]
ChrX:22237206 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1483-2A>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505407] ChrX:22178271 [GRCh38]
ChrX:22196388 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505408]|not provided [RCV001221993] ChrX:22168313 [GRCh38]
ChrX:22186430 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic|uncertain significance
NM_000444.6(PHEX):c.955_957AAG[1] (p.Lys320del) microsatellite Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505409]|not provided [RCV001307375] ChrX:22099027..22099029 [GRCh38]
ChrX:22117145..22117147 [GRCh37]
ChrX:Xp22.11
pathogenic|uncertain significance
NM_000444.6(PHEX):c.187+1G>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505410] ChrX:22038538 [GRCh38]
ChrX:22056656 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(22186507_22196389)_(22231076_22237152)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505411] ChrX:22178272..22212959 [GRCh38]
ChrX:22196389..22231076 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.707T>C (p.Leu236Pro) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505412] ChrX:22090472 [GRCh38]
ChrX:22108590 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.230G>T (p.Cys77Phe) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505416]|not provided [RCV001035982] ChrX:22047092 [GRCh38]
ChrX:22065210 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.1971C>G (p.Tyr657Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505417] ChrX:22227512 [GRCh38]
ChrX:22245629 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.142C>T (p.Gln48Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505418] ChrX:22038492 [GRCh38]
ChrX:22056610 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1718C>A (p.Ala573Asp) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505419] ChrX:22219053 [GRCh38]
ChrX:22237170 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(22245729_22263449)_(22266070_?)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505420] ChrX:22245332..22247953 [GRCh38]
ChrX:22263449..22266070 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1572dup (p.Val525fs) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505422] ChrX:22178360..22178361 [GRCh38]
ChrX:22196477..22196478 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(?_22051124)_(22051242_22056586)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505423] ChrX:22033006..22033124 [GRCh38]
ChrX:22051124..22051242 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(22208620_22231047)_(22266070_?)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505424] ChrX:22212930..22247953 [GRCh38]
ChrX:22231047..22266070 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1649_1650del (p.Phe550fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505425] ChrX:22212906..22212907 [GRCh38]
ChrX:22231023..22231024 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1910dup (p.Arg638fs) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505426] ChrX:22226451..22226452 [GRCh38]
ChrX:22244568..22244569 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(22065330_22094505)_(22095821_22108546)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505428] ChrX:22076387..22077703 [GRCh38]
ChrX:22094505..22095821 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1952G>C (p.Arg651Pro) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505429]|not provided [RCV001092573] ChrX:22226495 [GRCh38]
ChrX:22244612 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.78dup (p.Val27fs) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505430] ChrX:22033080..22033081 [GRCh38]
ChrX:22051198..22051199 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.544_545GA[1] (p.Arg183fs) microsatellite Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505432] ChrX:22077582..22077585 [GRCh38]
ChrX:22095700..22095703 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1568_1569insT (p.Lys523fs) insertion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505433] ChrX:22178358..22178359 [GRCh38]
ChrX:22196475..22196476 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(22094593_22095593)_(22095821_22108546)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505434] ChrX:22077475..22077703 [GRCh38]
ChrX:22095593..22095821 [GRCh37]
ChrX:Xp22.11
pathogenic
Single allele deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505435] ChrX:22114640..22150788 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1404G>C (p.Lys468Asn) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505436] ChrX:22133624 [GRCh38]
ChrX:22151741 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1297G>T (p.Glu433Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505437] ChrX:22114581 [GRCh38]
ChrX:22132699 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2198G>C (p.Cys733Ser) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505438]|not provided [RCV001307376] ChrX:22247901 [GRCh38]
ChrX:22266018 [GRCh37]
ChrX:Xp22.11
pathogenic|uncertain significance
NC_000023.10:g.(22239861_22244559)_(22266070_?)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505439] ChrX:22226442..22247953 [GRCh38]
ChrX:22244559..22266070 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1763A>G (p.Asn588Ser) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505440] ChrX:22219098 [GRCh38]
ChrX:22237215 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2199_2217dup (p.Asn740fs) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505441] ChrX:22247899..22247900 [GRCh38]
ChrX:22266016..22266017 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1134del (p.Ser379fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505443] ChrX:22111520 [GRCh38]
ChrX:22129638 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.467T>C (p.Leu156Pro) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505444] ChrX:22077506 [GRCh38]
ChrX:22095624 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2044C>T (p.Gln682Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505447]|not provided [RCV001070383] ChrX:22227585 [GRCh38]
ChrX:22245702 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(22095821_22108546)_(22108616_22112100)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505448] ChrX:22090428..22090498 [GRCh38]
ChrX:22108546..22108616 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1269del (p.Asp424fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505450] ChrX:22114553 [GRCh38]
ChrX:22132671 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505451] ChrX:22221617..22221618 [GRCh38]
ChrX:22239734..22239735 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(22132705_22151639)_(22151742_22186428)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505452] ChrX:22151639..22151742 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2245T>C (p.Trp749Arg) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505453]|not provided [RCV001210936] ChrX:22247948 [GRCh38]
ChrX:22266065 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.436+6T>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505454] ChrX:22076480 [GRCh38]
ChrX:22094598 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1103G>A (p.Trp368Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505455] ChrX:22111490 [GRCh38]
ChrX:22129608 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.22256748_22370988del114241 deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505456] ChrX:22238631..22352871 [GRCh38]
ChrX:22256748..22370988 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1966-9_1966-7del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505457] ChrX:22227498..22227500 [GRCh38]
ChrX:22245615..22245617 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1523A>C (p.Gln508Pro) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505458] ChrX:22178313 [GRCh38]
ChrX:22196430 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.679C>A (p.Leu227Ile) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505459] ChrX:22090444 [GRCh38]
ChrX:22108562 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.732+5G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505460] ChrX:22090502 [GRCh38]
ChrX:22108620 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.591A>G (p.Gln197=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505462]|not provided [RCV001051990] ChrX:22077630 [GRCh38]
ChrX:22095748 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.181G>T (p.Glu61Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505463] ChrX:22038531 [GRCh38]
ChrX:22056649 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.119-3C>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505464] ChrX:22038466 [GRCh38]
ChrX:22056584 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1700+2T>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505466] ChrX:22212960 [GRCh38]
ChrX:22231077 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2148-2A>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505467] ChrX:22247849 [GRCh38]
ChrX:22265966 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(22117270_22129584)_(22132705_22151639)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505468] ChrX:22111466..22114587 [GRCh38]
ChrX:22129584..22132705 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1936G>C (p.Asp646His) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505472]|not provided [RCV001207802] ChrX:22226479 [GRCh38]
ChrX:22244596 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic|uncertain significance
NM_000444.6(PHEX):c.253T>C (p.Cys85Arg) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505475] ChrX:22047115 [GRCh38]
ChrX:22065233 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2239_*2del (p.Arg747fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505476] ChrX:22247942..22247955 [GRCh38]
ChrX:22266059..22266072 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505477] ChrX:22219041 [GRCh38]
ChrX:22237158 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505478] ChrX:22077660 [GRCh38]
ChrX:22095778 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.933+1G>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505479] ChrX:22097039 [GRCh38]
ChrX:22115157 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2147+3A>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505480] ChrX:22245412 [GRCh38]
ChrX:22263529 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1965+1G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505482] ChrX:22226509 [GRCh38]
ChrX:22244626 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1586+1G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505483]|not provided [RCV001215404] ChrX:22178377 [GRCh38]
ChrX:22196494 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.832G>T (p.Glu278Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505485] ChrX:22094082 [GRCh38]
ChrX:22112200 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1079+5G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505486] ChrX:22099156 [GRCh38]
ChrX:22117274 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1753G>A (p.Gly585Arg) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505487]|not provided [RCV001340748] ChrX:22219088 [GRCh38]
ChrX:22237205 [GRCh37]
ChrX:Xp22.11
pathogenic|uncertain significance
NM_000444.6(PHEX):c.1022T>A (p.Val341Asp) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505488] ChrX:22099094 [GRCh38]
ChrX:22117212 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1482+5G>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505489]|not provided [RCV001044977] ChrX:22168394 [GRCh38]
ChrX:22186511 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.934-3_934-1delinsTCA indel Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505490] ChrX:22099003..22099005 [GRCh38]
ChrX:22117121..22117123 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1832_1833del (p.Lys610_Phe611insTer) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505491] ChrX:22221675..22221676 [GRCh38]
ChrX:22239792..22239793 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.415T>A (p.Tyr139Asn) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505492] ChrX:22076453 [GRCh38]
ChrX:22094571 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(22051242_22056586)_(22056656_22065167)del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505493] ChrX:22038468..22038538 [GRCh38]
ChrX:22056586..22056656 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1303-1G>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505495] ChrX:22133522 [GRCh38]
ChrX:22151639 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1044del (p.Asp349fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505496] ChrX:22099114 [GRCh38]
ChrX:22117232 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1560del (p.Trp520fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505497] ChrX:22178349 [GRCh38]
ChrX:22196466 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.704del (p.Tyr235fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505501] ChrX:22090469 [GRCh38]
ChrX:22108587 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1735G>C (p.Gly579Arg) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505502] ChrX:22219070 [GRCh38]
ChrX:22237187 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1137_1138delinsAT (p.Ser379_Arg380delinsArgTrp) indel Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505503] ChrX:22111524..22111525 [GRCh38]
ChrX:22129642..22129643 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505504] ChrX:22133579 [GRCh38]
ChrX:22151696 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2093del (p.Pro698fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505505] ChrX:22245354 [GRCh38]
ChrX:22263471 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.187+1del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505506] ChrX:22038536 [GRCh38]
ChrX:22056654 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.436+19T>G single nucleotide variant not specified [RCV000437218] ChrX:22076493 [GRCh38]
ChrX:22094611 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505445]|not provided [RCV000438600] ChrX:22033063 [GRCh38]
ChrX:22051181 [GRCh37]
ChrX:Xp22.11
pathogenic
Single allele deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505401] ChrX:22228830..22247262 [GRCh38]
ChrX:22246947..22265379 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.5(PHEX):c.1587-2145_1645+3342del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505442] ChrX:22188299..22193844 [GRCh38]
ChrX:22206416..22211961 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1899+2113_1957del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505500] ChrX:22223856..22226500 [GRCh38]
ChrX:22241973..22244617 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.617T>G (p.Leu206Trp) single nucleotide variant not provided [RCV000442393] ChrX:22077656 [GRCh38]
ChrX:22095774 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.11(chrX:22129362-22129540)x2 copy number gain See cases [RCV000448588] ChrX:22129362..22129540 [GRCh37]
ChrX:Xp22.11
benign
GRCh37/hg19 Xp22.12-22.11(chrX:21708594-22063592)x2 copy number gain See cases [RCV000512061] ChrX:21708594..22063592 [GRCh37]
ChrX:Xp22.12-22.11
uncertain significance
NM_000444.6(PHEX):c.758_760TGG[1] (p.Val254del) microsatellite not provided [RCV000480929] ChrX:22094008..22094010 [GRCh38]
ChrX:22112126..22112128 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2147+2_2147+9del deletion not provided [RCV000481000] ChrX:22245409..22245416 [GRCh38]
ChrX:22263526..22263533 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1173+1G>C single nucleotide variant not provided [RCV000481043] ChrX:22111561 [GRCh38]
ChrX:22129679 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000444.6(PHEX):c.1147C>T (p.Gln383Ter) single nucleotide variant not provided [RCV000481323] ChrX:22111534 [GRCh38]
ChrX:22129652 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1961_1963delinsCT (p.Phe654fs) indel not provided [RCV000481401] ChrX:22226504..22226506 [GRCh38]
ChrX:22244621..22244623 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.419C>G (p.Ser140Ter) single nucleotide variant not provided [RCV000481726] ChrX:22076457 [GRCh38]
ChrX:22094575 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1714G>A (p.Gly572Ser) single nucleotide variant not provided [RCV000481780] ChrX:22219049 [GRCh38]
ChrX:22237166 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.152_162del (p.Gln51fs) deletion not provided [RCV000482163] ChrX:22038501..22038511 [GRCh38]
ChrX:22056619..22056629 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1966_1969dup (p.Tyr657fs) duplication not provided [RCV000482207] ChrX:22227506..22227507 [GRCh38]
ChrX:22245623..22245624 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1966-1G>C single nucleotide variant not provided [RCV000482606] ChrX:22227506 [GRCh38]
ChrX:22245623 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1482+1G>A single nucleotide variant not provided [RCV000482782] ChrX:22168390 [GRCh38]
ChrX:22186507 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.1174-2A>G single nucleotide variant not provided [RCV000482906] ChrX:22114456 [GRCh38]
ChrX:22132574 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1660G>T (p.Glu554Ter) single nucleotide variant not provided [RCV000483049] ChrX:22212918 [GRCh38]
ChrX:22231035 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1706dup (p.Ser570fs) duplication not provided [RCV000483750] ChrX:22219040..22219041 [GRCh38]
ChrX:22237157..22237158 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1525del (p.Thr509fs) deletion not provided [RCV000483977] ChrX:22178313 [GRCh38]
ChrX:22196430 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.151C>T (p.Gln51Ter) single nucleotide variant not provided [RCV000484045] ChrX:22038501 [GRCh38]
ChrX:22056619 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.663+1_663+45del deletion not provided [RCV000484151] ChrX:22077701..22077745 [GRCh38]
ChrX:22095819..22095863 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg) single nucleotide variant not provided [RCV000481234] ChrX:22097019 [GRCh38]
ChrX:22115137 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1765_1768del (p.Asn589fs) deletion not provided [RCV000484521] ChrX:22219100..22219103 [GRCh38]
ChrX:22237217..22237220 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.425G>C (p.Cys142Ser) single nucleotide variant not provided [RCV000481349] ChrX:22076463 [GRCh38]
ChrX:22094581 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.2077T>C (p.Cys693Arg) single nucleotide variant not provided [RCV000478010] ChrX:22245339 [GRCh38]
ChrX:22263456 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1658G>A (p.Gly553Glu) single nucleotide variant not provided [RCV000478030] ChrX:22212916 [GRCh38]
ChrX:22231033 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp) single nucleotide variant not provided [RCV000478394] ChrX:22245341 [GRCh38]
ChrX:22263458 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1593dup (p.Thr532fs) duplication not provided [RCV000478726] ChrX:22190447..22190448 [GRCh38]
ChrX:22208564..22208565 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2118_2119del (p.Gln706fs) deletion not provided [RCV000479229] ChrX:22245379..22245380 [GRCh38]
ChrX:22263496..22263497 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1202del (p.Pro401fs) deletion not provided [RCV000486397] ChrX:22114485 [GRCh38]
ChrX:22132603 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2061T>G (p.Ser687Arg) single nucleotide variant not provided [RCV000486427] ChrX:22227602 [GRCh38]
ChrX:22245719 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2138del (p.Pro713fs) deletion not provided [RCV000486516] ChrX:22245396 [GRCh38]
ChrX:22263513 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.505G>C (p.Val169Leu) single nucleotide variant not provided [RCV000486772] ChrX:22077544 [GRCh38]
ChrX:22095662 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.850-2A>G single nucleotide variant not provided [RCV000486814] ChrX:22096953 [GRCh38]
ChrX:22115071 [GRCh37]
ChrX:Xp22.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000444.6(PHEX):c.2197T>C (p.Cys733Arg) single nucleotide variant not provided [RCV000479634] ChrX:22247900 [GRCh38]
ChrX:22266017 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1586+1G>T single nucleotide variant not provided [RCV000486596] ChrX:22178377 [GRCh38]
ChrX:22196494 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1768+2del deletion not provided [RCV000486710] ChrX:22219105 [GRCh38]
ChrX:22237222 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.680_681TC[1] (p.Ser228fs) microsatellite Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505406]|not provided [RCV000486799] ChrX:22090444..22090445 [GRCh38]
ChrX:22108562..22108563 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.670C>T (p.Gln224Ter) single nucleotide variant not provided [RCV000486842] ChrX:22090435 [GRCh38]
ChrX:22108553 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg) single nucleotide variant not provided [RCV000482803] ChrX:22077538 [GRCh38]
ChrX:22095656 [GRCh37]
ChrX:Xp22.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys) single nucleotide variant not provided [RCV000487357] ChrX:22133602 [GRCh38]
ChrX:22151719 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1719dup (p.Ile574fs) duplication not provided [RCV000479664] ChrX:22219053..22219054 [GRCh38]
ChrX:22237170..22237171 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.332_334del (p.Val111del) deletion not provided [RCV000480501] ChrX:22047192..22047194 [GRCh38]
ChrX:22065310..22065312 [GRCh37]
ChrX:Xp22.11
likely pathogenic|conflicting interpretations of pathogenicity
NM_000444.6(PHEX):c.985dup (p.His329fs) duplication not provided [RCV000480570] ChrX:22099052..22099053 [GRCh38]
ChrX:22117170..22117171 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.11(chrX:22196359-22196761)x1 copy number loss not provided [RCV000509466] ChrX:22196359..22196761 [GRCh37]
ChrX:Xp22.11
not provided
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001196900]|not provided [RCV000497462] ChrX:22076435 [GRCh38]
ChrX:22094553 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_000444.6(PHEX):c.961G>T (p.Val321Phe) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990517]|not provided [RCV000497756] ChrX:22099033 [GRCh38]
ChrX:22117151 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_000444.6(PHEX):c.251C>A (p.Ala84Asp) single nucleotide variant not provided [RCV000498627] ChrX:22047113 [GRCh38]
ChrX:22065231 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
NM_000444.6(PHEX):c.1828_1832dup (p.Phe611fs) duplication not provided [RCV000494498] ChrX:22221671..22221672 [GRCh38]
ChrX:22239788..22239789 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1723G>A (p.Gly575Arg) single nucleotide variant not provided [RCV000493080] ChrX:22219058 [GRCh38]
ChrX:22237175 [GRCh37]
ChrX:Xp22.11
likely pathogenic|conflicting interpretations of pathogenicity
NM_000444.6(PHEX):c.664-2A>C single nucleotide variant not provided [RCV000493119] ChrX:22090427 [GRCh38]
ChrX:22108545 [GRCh37]
ChrX:Xp22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000444.6(PHEX):c.1302+1G>T single nucleotide variant not provided [RCV000493272] ChrX:22114587 [GRCh38]
ChrX:22132705 [GRCh37]
ChrX:Xp22.11
likely pathogenic
GRCh37/hg19 Xp22.12-22.11(chrX:21708594-22054641)x3 copy number gain See cases [RCV000511611] ChrX:21708594..22054641 [GRCh37]
ChrX:Xp22.12-22.11
uncertain significance
NM_000444.6(PHEX):c.118+1G>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505413]|not provided [RCV000493306] ChrX:22033124 [GRCh38]
ChrX:22051242 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.682dup (p.Ser228fs) duplication not provided [RCV000493345] ChrX:22090446..22090447 [GRCh38]
ChrX:22108564..22108565 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000444.6(PHEX):c.903C>T (p.Asn301=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001166522]|not provided [RCV000887315]|not specified [RCV000595511] ChrX:22097008 [GRCh38]
ChrX:22115126 [GRCh37]
ChrX:Xp22.11
benign|likely benign
GRCh37/hg19 Xp22.11(chrX:22108547-22108570)x1 copy number loss not provided [RCV000585154] ChrX:22108547..22108570 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2040C>A (p.Asn680Lys) single nucleotide variant Inborn genetic diseases [RCV000623585]|not provided [RCV001063543] ChrX:22227581 [GRCh38]
ChrX:22245698 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.2071-5T>A single nucleotide variant not specified [RCV000605819] ChrX:22245328 [GRCh38]
ChrX:22263445 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp) single nucleotide variant not specified [RCV000613805] ChrX:22077637 [GRCh38]
ChrX:22095755 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.2071-4C>G single nucleotide variant not specified [RCV000611852] ChrX:22245329 [GRCh38]
ChrX:22263446 [GRCh37]
ChrX:Xp22.11
likely benign
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.11(chrX:22108547-22108615)x0 copy number loss not provided [RCV000513234] ChrX:22108547..22108615 [GRCh37]
ChrX:Xp22.11
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000444.6(PHEX):c.2171_2172del (p.Asn723_Phe724insTer) deletion not provided [RCV000657811] ChrX:22247873..22247874 [GRCh38]
ChrX:22265990..22265991 [GRCh37]
ChrX:Xp22.11
likely pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.11(chrX:22054493-22303438)x2 copy number gain not provided [RCV000684288] ChrX:22054493..22303438 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.11(chrX:22181596-22404721)x3 copy number gain not provided [RCV000684289] ChrX:22181596..22404721 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000444.6(PHEX):c.15_16del (p.Gly6fs) deletion not provided [RCV000712532] ChrX:22033020..22033021 [GRCh38]
ChrX:22051138..22051139 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.263G>A (p.Trp88Ter) single nucleotide variant not provided [RCV000712533] ChrX:22047125 [GRCh38]
ChrX:22065243 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.663+8G>A single nucleotide variant not provided [RCV000712534] ChrX:22077710 [GRCh38]
ChrX:22095828 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.1033C>T (p.Gln345Ter) single nucleotide variant not provided [RCV000712531] ChrX:22099105 [GRCh38]
ChrX:22117223 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.5(PHEX):c.(1965_2071)dup (p.Ala(1965_2071)Glyfs) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000710032]   uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
NM_000444.6(PHEX):c.1875T>G (p.Tyr625Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000761325]|not provided [RCV001049547] ChrX:22221719 [GRCh38]
ChrX:22239836 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic
NM_000444.6(PHEX):c.2140C>T (p.Gln714Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000761326] ChrX:22245402 [GRCh38]
ChrX:22263519 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1805G>A (p.Trp602Ter) single nucleotide variant not provided [RCV000760755] ChrX:22221649 [GRCh38]
ChrX:22239766 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990502] ChrX:22033011..22033012 [GRCh38]
ChrX:22051129..22051130 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.20_21del (p.Ser7fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990503] ChrX:22033025..22033026 [GRCh38]
ChrX:22051143..22051144 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.11(chrX:22266419-22929032)x0 copy number loss not provided [RCV001007274] ChrX:22266419..22929032 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.436+5G>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990509] ChrX:22076479 [GRCh38]
ChrX:22094597 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990510] ChrX:22077579 [GRCh38]
ChrX:22095697 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.849_849+2del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990514] ChrX:22094099..22094101 [GRCh38]
ChrX:22112217..22112219 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.934-1G>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990516]|not provided [RCV001039862] ChrX:22099005 [GRCh38]
ChrX:22117123 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990520] ChrX:22111489 [GRCh38]
ChrX:22129607 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990521] ChrX:22111544 [GRCh38]
ChrX:22129662 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1718C>T (p.Ala573Val) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990532] ChrX:22219053 [GRCh38]
ChrX:22237170 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1809dup (p.Ser604fs) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990536] ChrX:22221651..22221652 [GRCh38]
ChrX:22239768..22239769 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2147+2T>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990547] ChrX:22245411 [GRCh38]
ChrX:22263528 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000444.6(PHEX):c.363_366ATCA[1] (p.Ile123fs) microsatellite not provided [RCV000999351] ChrX:22076400..22076403 [GRCh38]
ChrX:22094518..22094521 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1899+8C>T single nucleotide variant not provided [RCV000902369] ChrX:22221751 [GRCh38]
ChrX:22239868 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.1966-10C>G single nucleotide variant not provided [RCV000983398] ChrX:22227497 [GRCh38]
ChrX:22245614 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.750C>T (p.Tyr250=) single nucleotide variant not provided [RCV000925332] ChrX:22094000 [GRCh38]
ChrX:22112118 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.1965+10G>A single nucleotide variant not provided [RCV000944043] ChrX:22226518 [GRCh38]
ChrX:22244635 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.1768+4_1768+7del deletion not provided [RCV001038319] ChrX:22219104..22219107 [GRCh38]
ChrX:22237221..22237224 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_000444.6(PHEX):c.68del (p.Leu23fs) deletion not provided [RCV001040903] ChrX:22033073 [GRCh38]
ChrX:22051191 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22033006)_(22038537_?)del deletion not provided [RCV001031107] ChrX:22051124..22056655 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1789G>T (p.Gly597Ter) single nucleotide variant not provided [RCV001045847] ChrX:22221633 [GRCh38]
ChrX:22239750 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.766_767dup (p.Ala257fs) duplication not provided [RCV001068824] ChrX:22094015..22094016 [GRCh38]
ChrX:22112133..22112134 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22168312)_(22274269_?)del deletion not provided [RCV001031575] ChrX:22186429..22292386 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1105A>T (p.Arg369Ter) single nucleotide variant not provided [RCV001041995] ChrX:22111492 [GRCh38]
ChrX:22129610 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1116T>A (p.Tyr372Ter) single nucleotide variant not provided [RCV001046382] ChrX:22111503 [GRCh38]
ChrX:22129621 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1700+1G>C single nucleotide variant not provided [RCV001046924] ChrX:22212959 [GRCh38]
ChrX:22231076 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1844_1847dup (p.Lys616fs) duplication not provided [RCV001047114] ChrX:22221684..22221685 [GRCh38]
ChrX:22239801..22239802 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22212904)_(22212958_?)del deletion not provided [RCV001031801] ChrX:22231021..22231075 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22178273)_(22190502_?)dup duplication not provided [RCV001031805] ChrX:22196390..22208619 [GRCh37]
ChrX:Xp22.11
uncertain significance
NC_000023.10:g.(?_21990015)_(22292386_?)del deletion not provided [RCV001031815] ChrX:21990015..22292386 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22111467)_(22114586_?)del deletion not provided [RCV001031822] ChrX:22129585..22132704 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22076388)_(22077702_?)del deletion not provided [RCV001032758] ChrX:22094506..22095820 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22047050)_(22047211_?)del deletion not provided [RCV001032797] ChrX:22065168..22065329 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22076388)_(22076474_?)del deletion not provided [RCV001032799] ChrX:22094506..22094592 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22245333)_(22274269_?)del deletion not provided [RCV001032851] ChrX:22263450..22292386 [GRCh37]
ChrX:Xp22.11
pathogenic
Single allele insertion not provided [RCV001089811] ChrX:Xp22.11 pathogenic
NC_000023.11:g.(?_22168312)_(22190502_?)dup duplication not provided [RCV001031925] ChrX:22186429..22208619 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NC_000023.11:g.(?_22033006)_(22047211_?)del deletion not provided [RCV001031945] ChrX:22051124..22065329 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22219036)_(22221743_?)del deletion not provided [RCV001031965] ChrX:22237153..22239860 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22168312)_(22227611_?)dup duplication not provided [RCV001032977] ChrX:22186429..22245728 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1400_1404del (p.Glu467fs) deletion not provided [RCV001048497] ChrX:22133616..22133620 [GRCh38]
ChrX:22151733..22151737 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1382C>G (p.Thr461Arg) single nucleotide variant not provided [RCV001066316] ChrX:22133602 [GRCh38]
ChrX:22151719 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NC_000023.10:g.(?_22065168)_(22151741_?)dup duplication not provided [RCV001031386] ChrX:22065168..22151741 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NC_000023.11:g.(?_22133523)_(22227611_?)dup duplication not provided [RCV001032113] ChrX:22151640..22245728 [GRCh37]
ChrX:Xp22.11
uncertain significance
NC_000023.11:g.(?_22090429)_(22094099_?)del deletion not provided [RCV001032186] ChrX:22108547..22112217 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NC_000023.11:g.(?_22178273)_(22178376_?)del deletion not provided [RCV001033091] ChrX:22196390..22196493 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2246G>C (p.Trp749Ser) single nucleotide variant not provided [RCV001049291] ChrX:22247949 [GRCh38]
ChrX:22266066 [GRCh37]
ChrX:Xp22.11
uncertain significance
NC_000023.11:g.(?_22168312)_(22247953_?)del deletion not provided [RCV001033206] ChrX:22186429..22266070 [GRCh37]
ChrX:Xp22.11
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_000444.6(PHEX):c.288A>G (p.Glu96=) single nucleotide variant not provided [RCV000969760]|not specified [RCV001288265] ChrX:22047150 [GRCh38]
ChrX:22065268 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.380G>A (p.Arg127Gln) single nucleotide variant not provided [RCV000891869] ChrX:22076418 [GRCh38]
ChrX:22094536 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.996C>T (p.Asp332=) single nucleotide variant not provided [RCV000918827] ChrX:22099068 [GRCh38]
ChrX:22117186 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.1088C>T (p.Ala363Val) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001029877] ChrX:22111475 [GRCh38]
ChrX:22129593 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1768+5G>A single nucleotide variant not provided [RCV000992531] ChrX:22219108 [GRCh38]
ChrX:22237225 [GRCh37]
ChrX:Xp22.11
conflicting interpretations of pathogenicity|uncertain significance
NM_000444.6(PHEX):c.2071-9C>T single nucleotide variant not provided [RCV000914177] ChrX:22245324 [GRCh38]
ChrX:22263441 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001166518]|not provided [RCV000975449] ChrX:22077670 [GRCh38]
ChrX:22095788 [GRCh37]
ChrX:Xp22.11
benign|likely benign
NM_000444.6(PHEX):c.101del (p.Gly34fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990504] ChrX:22033104 [GRCh38]
ChrX:22051222 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990506] ChrX:22047116 [GRCh38]
ChrX:22065234 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990508] ChrX:22076460 [GRCh38]
ChrX:22094578 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.559del (p.Leu187fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990511] ChrX:22077597 [GRCh38]
ChrX:22095715 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.582del (p.Arg195fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990512] ChrX:22077619 [GRCh38]
ChrX:22095737 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990524] ChrX:22114501 [GRCh38]
ChrX:22132619 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990537] ChrX:22221669 [GRCh38]
ChrX:22239786 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990539] ChrX:22221706 [GRCh38]
ChrX:22239823 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990543]|not provided [RCV001342525] ChrX:22227543..22227554 [GRCh38]
ChrX:22245660..22245671 [GRCh37]
ChrX:Xp22.11
likely pathogenic|uncertain significance
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
NM_000444.6(PHEX):c.282del (p.Glu96fs) deletion not provided [RCV000992532] ChrX:22047143 [GRCh38]
ChrX:22065261 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.827G>A (p.Arg276Lys) single nucleotide variant not provided [RCV000992535] ChrX:22094077 [GRCh38]
ChrX:22112195 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.733-1G>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000850582] ChrX:22093982 [GRCh38]
ChrX:22112100 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1483-7T>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001167038] ChrX:22178266 [GRCh38]
ChrX:22196383 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.2068C>A (p.His690Asn) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001168749] ChrX:22227609 [GRCh38]
ChrX:22245726 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.1324del (p.Val442fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990525] ChrX:22133544 [GRCh38]
ChrX:22151661 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.690C>T (p.Ala230=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001166520] ChrX:22090455 [GRCh38]
ChrX:22108573 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990526] ChrX:22133622 [GRCh38]
ChrX:22151739 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2125del (p.Ala709fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990545] ChrX:22245387 [GRCh38]
ChrX:22263504 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2249A>G (p.Ter750Trp) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990550] ChrX:22247952 [GRCh38]
ChrX:22266069 [GRCh37]
ChrX:Xp22.11
likely pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_000444.6(PHEX):c.1881G>A (p.Trp627Ter) single nucleotide variant not provided [RCV001058881] ChrX:22221725 [GRCh38]
ChrX:22239842 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.11(chrX:21999106-22054641)x2 copy number gain not provided [RCV000846247] ChrX:21999106..22054641 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.-126C>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001168694] ChrX:22032880 [GRCh38]
ChrX:22050998 [GRCh37]
ChrX:Xp22.11
benign
GRCh37/hg19 Xp22.11(chrX:21999106-22054641)x2 copy number gain not provided [RCV000846248] ChrX:21999106..22054641 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.11(chrX:21999106-22054641)x2 copy number gain not provided [RCV000846605] ChrX:21999106..22054641 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1 copy number loss not provided [RCV000847678] ChrX:20925922..35511818 [GRCh37]
ChrX:Xp22.12-21.1
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
NM_000444.6(PHEX):c.437-3C>G single nucleotide variant not provided [RCV000992533] ChrX:22077473 [GRCh38]
ChrX:22095591 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.481dup (p.Arg161fs) duplication not provided [RCV000992534] ChrX:22077519..22077520 [GRCh38]
ChrX:22095637..22095638 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1586+5G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990529]|not provided [RCV001049087] ChrX:22178381 [GRCh38]
ChrX:22196498 [GRCh37]
ChrX:Xp22.11
pathogenic|likely pathogenic|uncertain significance
NM_000444.6(PHEX):c.1714G>T (p.Gly572Cys) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990531] ChrX:22219049 [GRCh38]
ChrX:22237166 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.176G>C (p.Cys59Ser) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001029876] ChrX:22038526 [GRCh38]
ChrX:22056644 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1483-1G>C single nucleotide variant not provided [RCV001246313] ChrX:22178272 [GRCh38]
ChrX:22196389 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2148-3C>G single nucleotide variant not provided [RCV001056323] ChrX:22247848 [GRCh38]
ChrX:22265965 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.2083del (p.Ser695fs) deletion not provided [RCV001056324] ChrX:22245344 [GRCh38]
ChrX:22263461 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.416A>G (p.Tyr139Cys) single nucleotide variant not provided [RCV001211397] ChrX:22076454 [GRCh38]
ChrX:22094572 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1586+1G>C single nucleotide variant not provided [RCV001058494] ChrX:22178377 [GRCh38]
ChrX:22196494 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.185dup (p.Ala63fs) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990505] ChrX:22038534..22038535 [GRCh38]
ChrX:22056652..22056653 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.349+1G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990507] ChrX:22047212 [GRCh38]
ChrX:22065330 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990515] ChrX:22096970 [GRCh38]
ChrX:22115088 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.985del (p.His329fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990518] ChrX:22099053 [GRCh38]
ChrX:22117171 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1899+2T>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990541] ChrX:22221745 [GRCh38]
ChrX:22239862 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990548]|not provided [RCV001205648] ChrX:22247901 [GRCh38]
ChrX:22266018 [GRCh37]
ChrX:Xp22.11
likely pathogenic|uncertain significance
NM_000444.6(PHEX):c.2011_2045del (p.Pro671fs) deletion not provided [RCV001212169] ChrX:22227552..22227586 [GRCh38]
ChrX:22245669..22245703 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2000del (p.Gly667fs) deletion not provided [RCV001233187] ChrX:22227539 [GRCh38]
ChrX:22245656 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1721T>A (p.Ile574Lys) single nucleotide variant not provided [RCV001222296] ChrX:22219056 [GRCh38]
ChrX:22237173 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2148-1G>C single nucleotide variant not provided [RCV001221894] ChrX:22247850 [GRCh38]
ChrX:22265967 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.750C>A (p.Tyr250Ter) single nucleotide variant not provided [RCV001226716] ChrX:22094000 [GRCh38]
ChrX:22112118 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1387del (p.Arg463fs) deletion not provided [RCV001208404] ChrX:22133604 [GRCh38]
ChrX:22151721 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1899+3G>C single nucleotide variant not provided [RCV001222462] ChrX:22221746 [GRCh38]
ChrX:22239863 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.724del (p.Ala242fs) deletion not provided [RCV001203225] ChrX:22090489 [GRCh38]
ChrX:22108607 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1806del (p.Trp602fs) deletion not provided [RCV001233388] ChrX:22221649 [GRCh38]
ChrX:22239766 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.978_979dup (p.Tyr327fs) microsatellite not provided [RCV001233507] ChrX:22099047..22099048 [GRCh38]
ChrX:22117165..22117166 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1138dup (p.Arg380fs) duplication not provided [RCV001237791] ChrX:22111524..22111525 [GRCh38]
ChrX:22129642..22129643 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1009G>T (p.Glu337Ter) single nucleotide variant not provided [RCV001234485] ChrX:22099081 [GRCh38]
ChrX:22117199 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1173+1del deletion not provided [RCV001223001] ChrX:22111559 [GRCh38]
ChrX:22129677 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.27_28insA (p.Glu10fs) insertion not provided [RCV001239145] ChrX:22033032..22033033 [GRCh38]
ChrX:22051150..22051151 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.67_74del (p.Leu23fs) deletion not provided [RCV001203553] ChrX:22033072..22033079 [GRCh38]
ChrX:22051190..22051197 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.201_202dup (p.Ser68fs) duplication not provided [RCV001239984] ChrX:22047062..22047063 [GRCh38]
ChrX:22065180..22065181 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.934-2A>G single nucleotide variant not provided [RCV001235084] ChrX:22099004 [GRCh38]
ChrX:22117122 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2164del (p.Ser722fs) deletion not provided [RCV001221409] ChrX:22247867 [GRCh38]
ChrX:22265984 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1302+1G>C single nucleotide variant not provided [RCV001238174] ChrX:22114587 [GRCh38]
ChrX:22132705 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2147G>C (p.Arg716Thr) single nucleotide variant not provided [RCV001223734] ChrX:22245409 [GRCh38]
ChrX:22263526 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.2018T>G (p.Leu673Arg) single nucleotide variant not provided [RCV001223790] ChrX:22227559 [GRCh38]
ChrX:22245676 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.766A>C (p.Thr256Pro) single nucleotide variant not provided [RCV001223791] ChrX:22094016 [GRCh38]
ChrX:22112134 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.2070+1G>T single nucleotide variant not provided [RCV001221285] ChrX:22227612 [GRCh38]
ChrX:22245729 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.934-16_934-12delinsCTACCTAACTGAGAT indel not provided [RCV001209622] ChrX:22098990..22098994 [GRCh38]
ChrX:22117108..22117112 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1482+1G>C single nucleotide variant not provided [RCV001210025] ChrX:22168390 [GRCh38]
ChrX:22186507 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.83del (p.Gly28fs) deletion not provided [RCV001210205] ChrX:22033087 [GRCh38]
ChrX:22051205 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.404C>A (p.Ala135Asp) single nucleotide variant not provided [RCV001223304] ChrX:22076442 [GRCh38]
ChrX:22094560 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1853T>G (p.Met618Arg) single nucleotide variant not provided [RCV001226361] ChrX:22221697 [GRCh38]
ChrX:22239814 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.2189del (p.Ala730fs) deletion not provided [RCV001218409] ChrX:22247892 [GRCh38]
ChrX:22266009 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2050TTC[1] (p.Phe685del) microsatellite not provided [RCV001235605] ChrX:22227589..22227591 [GRCh38]
ChrX:22245706..22245708 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.241T>C (p.Phe81Leu) single nucleotide variant not provided [RCV001238520] ChrX:22047103 [GRCh38]
ChrX:22065221 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.620_623del (p.Tyr207fs) deletion not provided [RCV001223335] ChrX:22077656..22077659 [GRCh38]
ChrX:22095774..22095777 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.124del (p.Gln42fs) deletion not provided [RCV001223336] ChrX:22038474 [GRCh38]
ChrX:22056592 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2192T>G (p.Phe731Cys) single nucleotide variant not provided [RCV001223337] ChrX:22247895 [GRCh38]
ChrX:22266012 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.289_349+836delinsAAGATATGCCT indel not provided [RCV001239733] ChrX:22047151..22048047 [GRCh38]
ChrX:22065269..22066165 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1757T>C (p.Phe586Ser) single nucleotide variant not provided [RCV001242137] ChrX:22219092 [GRCh38]
ChrX:22237209 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1184_1185dup (p.Thr396fs) duplication not provided [RCV000992530] ChrX:22114465..22114466 [GRCh38]
ChrX:22132583..22132584 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.230G>A (p.Cys77Tyr) single nucleotide variant not provided [RCV001222118] ChrX:22047092 [GRCh38]
ChrX:22065210 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1482+3A>C single nucleotide variant not provided [RCV001238609] ChrX:22168392 [GRCh38]
ChrX:22186509 [GRCh37]
ChrX:Xp22.11
pathogenic|uncertain significance
NM_000444.6(PHEX):c.1958C>A (p.Ala653Asp) single nucleotide variant not provided [RCV001222246] ChrX:22226501 [GRCh38]
ChrX:22244618 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV001212779] ChrX:22033008 [GRCh38]
ChrX:22051126 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.436+5G>A single nucleotide variant not provided [RCV001226195] ChrX:22076479 [GRCh38]
ChrX:22094597 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1482+2T>G single nucleotide variant not provided [RCV001213016] ChrX:22168391 [GRCh38]
ChrX:22186508 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1695T>A (p.Tyr565Ter) single nucleotide variant not provided [RCV001219160] ChrX:22212953 [GRCh38]
ChrX:22231070 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.118+2del deletion not provided [RCV001204575] ChrX:22033125 [GRCh38]
ChrX:22051243 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.208_212del (p.Val70fs) microsatellite Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001271108]|not provided [RCV001219349] ChrX:22047063..22047067 [GRCh38]
ChrX:22065181..22065185 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.11(chrX:22169781-22390857)x3 copy number gain not provided [RCV000847468] ChrX:22169781..22390857 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000444.6(PHEX):c.593del (p.Tyr198fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990513] ChrX:22077632 [GRCh38]
ChrX:22095750 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1215del (p.Lys405fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990523] ChrX:22114497 [GRCh38]
ChrX:22132615 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1425del (p.Val476fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990527] ChrX:22168329 [GRCh38]
ChrX:22186446 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln) insertion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990528] ChrX:22178285..22178286 [GRCh38]
ChrX:22196402..22196403 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990530] ChrX:22212904 [GRCh38]
ChrX:22231021 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990533] ChrX:22219076 [GRCh38]
ChrX:22237193 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1750C>T (p.His584Tyr) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990534] ChrX:22219085 [GRCh38]
ChrX:22237202 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1769-1G>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990535] ChrX:22221612 [GRCh38]
ChrX:22239729 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1951_1962dup (p.Glu652_Arg655dup) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990542] ChrX:22226493..22226494 [GRCh38]
ChrX:22244610..22244611 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2078G>C (p.Cys693Ser) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990544] ChrX:22245340 [GRCh38]
ChrX:22263457 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990549] ChrX:22247939 [GRCh38]
ChrX:22266056 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.779del (p.Leu259_Leu260insTer) deletion not provided [RCV001008042] ChrX:22094026 [GRCh38]
ChrX:22112144 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_000444.6(PHEX):c.653A>G (p.His218Arg) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001166519] ChrX:22077692 [GRCh38]
ChrX:22095810 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.1586+14A>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001167039] ChrX:22178390 [GRCh38]
ChrX:22196507 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.440C>T (p.Ala147Val) single nucleotide variant not provided [RCV000911006] ChrX:22077479 [GRCh38]
ChrX:22095597 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.1383G>A (p.Thr461=) single nucleotide variant not provided [RCV000908505] ChrX:22133603 [GRCh38]
ChrX:22151720 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.1437A>G (p.Pro479=) single nucleotide variant not provided [RCV000886154] ChrX:22168344 [GRCh38]
ChrX:22186461 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.1008C>T (p.Ser336=) single nucleotide variant not provided [RCV000916936] ChrX:22099080 [GRCh38]
ChrX:22117198 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.441G>A (p.Ala147=) single nucleotide variant not provided [RCV000901434] ChrX:22077480 [GRCh38]
ChrX:22095598 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.399G>A (p.Gln133=) single nucleotide variant not provided [RCV000975952] ChrX:22076437 [GRCh38]
ChrX:22094555 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.249C>T (p.Phe83=) single nucleotide variant not provided [RCV000931297] ChrX:22047111 [GRCh38]
ChrX:22065229 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.444T>C (p.Ile148=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001169464]|not provided [RCV000926532] ChrX:22077483 [GRCh38]
ChrX:22095601 [GRCh37]
ChrX:Xp22.11
likely benign|uncertain significance
NM_000444.6(PHEX):c.922A>G (p.Met308Val) single nucleotide variant not provided [RCV000899880] ChrX:22097027 [GRCh38]
ChrX:22115145 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.1024C>T (p.Arg342Cys) single nucleotide variant not provided [RCV000933500] ChrX:22099096 [GRCh38]
ChrX:22117214 [GRCh37]
ChrX:Xp22.11
likely benign
NM_000444.6(PHEX):c.2239del (p.Arg747fs) deletion not provided [RCV001214030] ChrX:22247941 [GRCh38]
ChrX:22266058 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1768+1del deletion not provided [RCV001207116] ChrX:22219103 [GRCh38]
ChrX:22237220 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.188-1G>C single nucleotide variant not provided [RCV001235599] ChrX:22047049 [GRCh38]
ChrX:22065167 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1224del (p.Phe409fs) deletion not provided [RCV001242166] ChrX:22114508 [GRCh38]
ChrX:22132626 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.307del (p.Val103fs) deletion not provided [RCV001244517] ChrX:22047166 [GRCh38]
ChrX:22065284 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1702T>C (p.Ser568Pro) single nucleotide variant not provided [RCV001226570] ChrX:22219037 [GRCh38]
ChrX:22237154 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1645+5G>A single nucleotide variant not provided [RCV001222996] ChrX:22190507 [GRCh38]
ChrX:22208624 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2021del (p.Pro674fs) deletion not provided [RCV001247895] ChrX:22227561 [GRCh38]
ChrX:22245678 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2149G>T (p.Val717Phe) single nucleotide variant not provided [RCV001219870] ChrX:22247852 [GRCh38]
ChrX:22265969 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1313del (p.Leu438fs) deletion not provided [RCV001219871] ChrX:22133532 [GRCh38]
ChrX:22151649 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2140del (p.Gln714fs) deletion not provided [RCV001227397] ChrX:22245402 [GRCh38]
ChrX:22263519 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1109T>G (p.Met370Arg) single nucleotide variant not provided [RCV001071444] ChrX:22111496 [GRCh38]
ChrX:22129614 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.49A>T (p.Arg17Ter) single nucleotide variant not provided [RCV001240167] ChrX:22033054 [GRCh38]
ChrX:22051172 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1146del (p.Gln383fs) deletion not provided [RCV001071446] ChrX:22111531 [GRCh38]
ChrX:22129649 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.924_927dup (p.Pro310fs) duplication not provided [RCV001208906] ChrX:22097027..22097028 [GRCh38]
ChrX:22115145..22115146 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.275_280delinsT (p.Asn92fs) indel not provided [RCV001243781] ChrX:22047137..22047142 [GRCh38]
ChrX:22065255..22065260 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.981C>G (p.Tyr327Ter) single nucleotide variant not provided [RCV001227757] ChrX:22099053 [GRCh38]
ChrX:22117171 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22212904)_(22274269_?)del deletion not provided [RCV001031164] ChrX:22231021..22292386 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.956dup (p.Lys320fs) duplication not provided [RCV001224378] ChrX:22099026..22099027 [GRCh38]
ChrX:22117144..22117145 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2085del (p.Tyr696fs) deletion not provided [RCV001056325] ChrX:22245346 [GRCh38]
ChrX:22263463 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NC_000023.11:g.(?_21977061)_(22077702_?)del deletion not provided [RCV001031635] ChrX:21995179..22095820 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.118+1G>A single nucleotide variant not provided [RCV001217335] ChrX:22033124 [GRCh38]
ChrX:22051242 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.21delinsACTGG (p.Ser7fs) indel not provided [RCV001240990] ChrX:22033026 [GRCh38]
ChrX:22051144 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.350-2A>G single nucleotide variant not provided [RCV001224836] ChrX:22076386 [GRCh38]
ChrX:22094504 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.814A>T (p.Lys272Ter) single nucleotide variant not provided [RCV001225076] ChrX:22094064 [GRCh38]
ChrX:22112182 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1779T>G (p.Tyr593Ter) single nucleotide variant not provided [RCV001225136] ChrX:22221623 [GRCh38]
ChrX:22239740 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.134T>G (p.Leu45Ter) single nucleotide variant not provided [RCV001217999] ChrX:22038484 [GRCh38]
ChrX:22056602 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2057T>C (p.Leu686Pro) single nucleotide variant not provided [RCV001218232] ChrX:22227598 [GRCh38]
ChrX:22245715 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.849+3A>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001166521]|not provided [RCV000891006] ChrX:22094102 [GRCh38]
ChrX:22112220 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990522]|not provided [RCV001232657] ChrX:22114492 [GRCh38]
ChrX:22132610 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990546] ChrX:22245395 [GRCh38]
ChrX:22263512 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.135_136del (p.Leu47fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001029917] ChrX:22038485..22038486 [GRCh38]
ChrX:22056603..22056604 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.425G>T (p.Cys142Phe) single nucleotide variant not provided [RCV001066270] ChrX:22076463 [GRCh38]
ChrX:22094581 [GRCh37]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
Single allele insertion not provided [RCV001089845] ChrX:Xp22.11 pathogenic
NM_000444.6(PHEX):c.663+2T>C single nucleotide variant not provided [RCV001054305] ChrX:22077704 [GRCh38]
ChrX:22095822 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.103_104del (p.Thr35fs) deletion not provided [RCV001054675] ChrX:22033107..22033108 [GRCh38]
ChrX:22051225..22051226 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1919T>C (p.Leu640Pro) single nucleotide variant not provided [RCV001211281] ChrX:22226462 [GRCh38]
ChrX:22244579 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1738C>G (p.His580Asp) single nucleotide variant not provided [RCV001067886] ChrX:22219073 [GRCh38]
ChrX:22237190 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1768+173A>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001029835] ChrX:22219276 [GRCh38]
ChrX:22237393 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.437-2A>C single nucleotide variant not provided [RCV001059389] ChrX:22077474 [GRCh38]
ChrX:22095592 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2077T>A (p.Cys693Ser) single nucleotide variant not provided [RCV001234409] ChrX:22245339 [GRCh38]
ChrX:22263456 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2100del (p.Ala701fs) deletion not provided [RCV001206110] ChrX:22245362 [GRCh38]
ChrX:22263479 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.942G>A (p.Trp314Ter) single nucleotide variant not provided [RCV001039306] ChrX:22099014 [GRCh38]
ChrX:22117132 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1403A>C (p.Lys468Thr) single nucleotide variant not provided [RCV001215719] ChrX:22133623 [GRCh38]
ChrX:22151740 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.30_36del (p.Thr11fs) deletion not provided [RCV001206146] ChrX:22033031..22033037 [GRCh38]
ChrX:22051149..22051155 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2245T>A (p.Trp749Arg) single nucleotide variant not provided [RCV001067506] ChrX:22247948 [GRCh38]
ChrX:22266065 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1328G>C (p.Arg443Pro) single nucleotide variant not provided [RCV001048810] ChrX:22133548 [GRCh38]
ChrX:22151665 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1666C>T (p.Gln556Ter) single nucleotide variant not provided [RCV001205224] ChrX:22212924 [GRCh38]
ChrX:22231041 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1104G>A (p.Trp368Ter) single nucleotide variant not provided [RCV001220284] ChrX:22111491 [GRCh38]
ChrX:22129609 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1506C>G (p.Tyr502Ter) single nucleotide variant not provided [RCV001208647] ChrX:22178296 [GRCh38]
ChrX:22196413 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1848del (p.Lys616fs) deletion not provided [RCV001205334] ChrX:22221689 [GRCh38]
ChrX:22239806 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1535del (p.Tyr512fs) deletion not provided [RCV001212749] ChrX:22178325 [GRCh38]
ChrX:22196442 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1627_1645+12del deletion not provided [RCV001202558] ChrX:22190482..22190512 [GRCh38]
ChrX:22208599..22208629 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1973_1984dup (p.Arg658_Ile661dup) duplication not provided [RCV001248463] ChrX:22227512..22227513 [GRCh38]
ChrX:22245629..22245630 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1237G>C (p.Ala413Pro) single nucleotide variant not provided [RCV001051822] ChrX:22114521 [GRCh38]
ChrX:22132639 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.-126C>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001168693] ChrX:22032880 [GRCh38]
ChrX:22050998 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.230G>C (p.Cys77Ser) single nucleotide variant not provided [RCV001205422] ChrX:22047092 [GRCh38]
ChrX:22065210 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1173+5G>A single nucleotide variant not provided [RCV001216617] ChrX:22111565 [GRCh38]
ChrX:22129683 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.2237G>A (p.Cys746Tyr) single nucleotide variant not provided [RCV001219014] ChrX:22247940 [GRCh38]
ChrX:22266057 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1399G>T (p.Glu467Ter) single nucleotide variant not provided [RCV001220425] ChrX:22133619 [GRCh38]
ChrX:22151736 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2095G>T (p.Glu699Ter) single nucleotide variant not provided [RCV001217035] ChrX:22245357 [GRCh38]
ChrX:22263474 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.436+2T>A single nucleotide variant not provided [RCV001230688] ChrX:22076476 [GRCh38]
ChrX:22094594 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22033006)_(22033123_?)del deletion not provided [RCV001031270] ChrX:22051124..22051241 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22178273)_(22190502_?)del deletion not provided [RCV001031404] ChrX:22196390..22208619 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1751A>C (p.His584Pro) single nucleotide variant not provided [RCV001216031] ChrX:22219086 [GRCh38]
ChrX:22237203 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.649G>T (p.Glu217Ter) single nucleotide variant not provided [RCV001234648] ChrX:22077688 [GRCh38]
ChrX:22095806 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.187+2T>A single nucleotide variant not provided [RCV001207959] ChrX:22038539 [GRCh38]
ChrX:22056657 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NC_000023.11:g.(?_22111467)_(22111560_?)del deletion not provided [RCV001032210] ChrX:22129585..22129678 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.663G>A (p.Lys221=) single nucleotide variant not provided [RCV001215333] ChrX:22077702 [GRCh38]
ChrX:22095820 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1405-3739_1459del deletion not provided [RCV001215045] ChrX:22164573..22168366 [GRCh38]
ChrX:22182690..22186483 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NC_000023.11:g.(?_22219036)_(22247953_?)del deletion not provided [RCV001032568] ChrX:22237153..22266070 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22114458)_(22114586_?)del deletion not provided [RCV001032708] ChrX:22132576..22132704 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22133523)_(22168389_?)dup duplication not provided [RCV001032729] ChrX:22151640..22186506 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1700+1G>A single nucleotide variant not provided [RCV001045953] ChrX:22212959 [GRCh38]
ChrX:22231076 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.457dup (p.Ala153fs) duplication not provided [RCV001046084] ChrX:22077495..22077496 [GRCh38]
ChrX:22095613..22095614 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1335del (p.Phe446fs) deletion not provided [RCV001230954] ChrX:22133554 [GRCh38]
ChrX:22151671 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1806dup (p.Trp603fs) duplication not provided [RCV001046884] ChrX:22221648..22221649 [GRCh38]
ChrX:22239765..22239766 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1520T>C (p.Leu507Pro) single nucleotide variant not provided [RCV001231229] ChrX:22178310 [GRCh38]
ChrX:22196427 [GRCh37]
ChrX:Xp22.11
uncertain significance
NC_000023.11:g.(?_22033006)_(22077702_?)del deletion not provided [RCV001033027] ChrX:22051124..22095820 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22190444)_(22190502_?)del deletion not provided [RCV001033112] ChrX:22208561..22208619 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22133523)_(22133624_?)del deletion not provided [RCV001033130] ChrX:22151640..22151741 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2250G>C (p.Ter750Tyr) single nucleotide variant not provided [RCV001243998] ChrX:22247953 [GRCh38]
ChrX:22266070 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1529G>C (p.Arg510Pro) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001030004] ChrX:22178319 [GRCh38]
ChrX:22196436 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1701-1del deletion not provided [RCV001036667] ChrX:22219035 [GRCh38]
ChrX:22237152 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.551dup (p.Phe185fs) duplication not provided [RCV001247625] ChrX:22077587..22077588 [GRCh38]
ChrX:22095705..22095706 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1768+2T>G single nucleotide variant not provided [RCV001213206] ChrX:22219105 [GRCh38]
ChrX:22237222 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.2213C>T (p.Thr738Met) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001168750] ChrX:22247916 [GRCh38]
ChrX:22266033 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.*58C>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001168752] ChrX:22248011 [GRCh38]
ChrX:22266128 [GRCh37]
ChrX:Xp22.11
benign
NM_000444.6(PHEX):c.1021del (p.Val341fs) deletion not provided [RCV001210790] ChrX:22099092 [GRCh38]
ChrX:22117210 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.11:g.(?_22007157)_(22038537_?)del deletion not provided [RCV001031236] ChrX:22025275..22056655 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1942G>A (p.Gly648Arg) single nucleotide variant not provided [RCV001039487] ChrX:22226485 [GRCh38]
ChrX:22244602 [GRCh37]
ChrX:Xp22.11
uncertain significance
NC_000023.11:g.(?_22190444)_(22227611_?)del deletion not provided [RCV001031762] ChrX:22208561..22245728 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.304G>A (p.Gly102Arg) single nucleotide variant not provided [RCV001039987] ChrX:22047166 [GRCh38]
ChrX:22065284 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(?_22094506)_(22292386_?)del deletion not provided [RCV001032145] ChrX:22094506..22292386 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1303-1G>A single nucleotide variant not provided [RCV001040276] ChrX:22133522 [GRCh38]
ChrX:22151639 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1394C>A (p.Ala465Asp) single nucleotide variant not provided [RCV001040410] ChrX:22133614 [GRCh38]
ChrX:22151731 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1368G>A (p.Trp456Ter) single nucleotide variant not provided [RCV001231526] ChrX:22133588 [GRCh38]
ChrX:22151705 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.*305G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001169523] ChrX:22248258 [GRCh38]
ChrX:22266375 [GRCh37]
ChrX:Xp22.11
benign
NC_000023.11:g.(?_22221613)_(22227611_?)dup duplication not provided [RCV001032540] ChrX:22239730..22245728 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NC_000023.11:g.(?_22096955)_(22097038_?)del deletion not provided [RCV001032549] ChrX:22115073..22115156 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1402A>G (p.Lys468Glu) single nucleotide variant not provided [RCV001211920] ChrX:22133622 [GRCh38]
ChrX:22151739 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1482+1G>T single nucleotide variant not provided [RCV001092571] ChrX:22168390 [GRCh38]
ChrX:22186507 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1768+1G>T single nucleotide variant not provided [RCV001092572] ChrX:22219104 [GRCh38]
ChrX:22237221 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.750del (p.Leu249_Tyr250insTer) deletion not provided [RCV001066122] ChrX:22094000 [GRCh38]
ChrX:22112118 [GRCh37]
ChrX:Xp22.11
pathogenic
NC_000023.10:g.(?_22094506)_(22196493_?)dup duplication not provided [RCV001033323] ChrX:22094506..22196493 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.204del (p.Ser68fs) deletion not provided [RCV001215550] ChrX:22047066 [GRCh38]
ChrX:22065184 [GRCh37]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.645_652del (p.Asn216fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001254910] ChrX:22077683..22077690 [GRCh38]
ChrX:22095801..22095808 [GRCh37]
ChrX:Xp22.11
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000444.6(PHEX):c.2071-2A>G single nucleotide variant not provided [RCV001268141] ChrX:22245331 [GRCh38]
ChrX:22263448 [GRCh37]
ChrX:Xp22.11
pathogenic
Single allele deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001271109] ChrX:22213388..22345581 [GRCh38]
ChrX:Xp22.11
pathogenic
GRCh37/hg19 Xp22.11(chrX:22155363-22824441)x2 copy number gain not provided [RCV001259447] ChrX:22155363..22824441 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.11(chrX:22222044-22975163)x2 copy number gain not provided [RCV001259449] ChrX:22222044..22975163 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.11(chrX:22222044-22975163)x3 copy number gain not provided [RCV001259450] ChrX:22222044..22975163 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1850G>T (p.Cys617Phe) single nucleotide variant not provided [RCV001341764] ChrX:22221694 [GRCh38]
ChrX:22239811 [GRCh37]
ChrX:Xp22.11
uncertain significance
Single allele deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001312195] ChrX:22243338..22690207 [GRCh38]
ChrX:Xp22.11
pathogenic
NM_000444.6(PHEX):c.1519C>G (p.Leu507Val) single nucleotide variant not provided [RCV001313944] ChrX:22178309 [GRCh38]
ChrX:22196426 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.732+4_732+5insCA insertion not provided [RCV001301525] ChrX:22090500..22090501 [GRCh38]
ChrX:22108618..22108619 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1091_1099dup (p.Val367_Trp368insAspTyrLeu) duplication not provided [RCV001288264] ChrX:22111477..22111478 [GRCh38]
ChrX:22129595..22129596 [GRCh37]
ChrX:Xp22.11
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000444.6(PHEX):c.1304T>G (p.Met435Arg) single nucleotide variant not provided [RCV001299423] ChrX:22133524 [GRCh38]
ChrX:22151641 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.2065G>C (p.Ala689Pro) single nucleotide variant not provided [RCV001317702] ChrX:22227606 [GRCh38]
ChrX:22245723 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1966-1G>T single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001331239] ChrX:22227506 [GRCh38]
ChrX:22245623 [GRCh37]
ChrX:Xp22.11
likely pathogenic
NM_000444.6(PHEX):c.1133T>C (p.Leu378Pro) single nucleotide variant not provided [RCV001342791] ChrX:22111520 [GRCh38]
ChrX:22129638 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1302+4_1302+10del deletion not provided [RCV001342981] ChrX:22114585..22114591 [GRCh38]
ChrX:22132703..22132709 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.64G>T (p.Ala22Ser) single nucleotide variant not provided [RCV001303324] ChrX:22033069 [GRCh38]
ChrX:22051187 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1017GGT[1] (p.Val341del) microsatellite not provided [RCV001327259] ChrX:22099087..22099089 [GRCh38]
ChrX:22117205..22117207 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.482G>C (p.Arg161Pro) single nucleotide variant not provided [RCV001342790] ChrX:22077521 [GRCh38]
ChrX:22095639 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1876T>C (p.Tyr626His) single nucleotide variant not provided [RCV001347709] ChrX:22221720 [GRCh38]
ChrX:22239837 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.349+2dup duplication not provided [RCV001295805] ChrX:22047212..22047213 [GRCh38]
ChrX:22065330..22065331 [GRCh37]
ChrX:Xp22.11
uncertain significance
NC_000023.10:g.(?_22151640)_(22151741_?)dup duplication not provided [RCV001299578] ChrX:22151640..22151741 [GRCh37]
ChrX:Xp22.11
uncertain significance
NC_000023.10:g.(?_22263430)_(22266301_?)dup duplication not provided [RCV001299579] ChrX:22263430..22266301 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile) single nucleotide variant not provided [RCV001340539] ChrX:22226503 [GRCh38]
ChrX:22244620 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1412_1417del (p.Ala471_Leu473delinsVal) deletion not provided [RCV001338694] ChrX:22168319..22168324 [GRCh38]
ChrX:22186436..22186441 [GRCh37]
ChrX:Xp22.11
uncertain significance
NC_000023.10:g.(?_22151640)_(22186506_?)dup duplication not provided [RCV001327820] ChrX:22151640..22186506 [GRCh37]
ChrX:Xp22.11
uncertain significance
NM_000444.6(PHEX):c.1936G>T (p.Asp646Tyr) single nucleotide variant not provided [RCV001337414] ChrX:22226479 [GRCh38]
ChrX:22244596 [GRCh37]
ChrX:Xp22.11
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8918 AgrOrtholog
COSMIC PHEX COSMIC
Ensembl Genes ENSG00000102174 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000368682 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000379374 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.1380.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.40.390.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000102174 GTEx
HGNC ID HGNC:8918 ENTREZGENE
Human Proteome Map PHEX Human Proteome Map
InterPro MetalloPept_cat_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_dom_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5251 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5251 ENTREZGENE
OMIM 300550 OMIM
  307800 OMIM
PANTHER PTHR11733 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Peptidase_M13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_M13_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33258 PharmGKB
PRINTS NEPRILYSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEPRILYSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZINC_PROTEASE UniProtKB/Swiss-Prot
UniProt B4DNS0 ENTREZGENE, UniProtKB/TrEMBL
  B4DWG8 ENTREZGENE, UniProtKB/TrEMBL
  P78562 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary O00678 UniProtKB/Swiss-Prot
  Q13646 UniProtKB/Swiss-Prot
  Q2M325 UniProtKB/Swiss-Prot
  Q93032 UniProtKB/Swiss-Prot
  Q99827 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-05-30 PHEX  phosphate regulating endopeptidase homolog X-linked  PHEX  phosphate regulating endopeptidase homolog, X-linked  Symbol and/or name change 5135510 APPROVED