PHEX (phosphate regulating endopeptidase X-linked)

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Gene: PHEX (phosphate regulating endopeptidase X-linked) Homo sapiens

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Symbol:

PHEX

Name:

phosphate regulating endopeptidase X-linked

RGD ID:

733664

HGNC Page

HGNC:8918

Description:

Predicted to enable metalloendopeptidase activity. Involved in proteolysis. Predicted to be located in several cellular components, including Golgi apparatus; endoplasmic reticulum; and perinuclear region of cytoplasm. Predicted to be active in plasma membrane. Implicated in X-linked dominant hypophosphatemic rickets.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

HPDR; HPDR1; HYP; HYP1; LXHR; metalloendopeptidase homolog PEX; PEX; PHEX peptidase; phosphate regulating endopeptidase homolog X-linked; 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

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	22,032,325 - 22,251,310 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	22,032,325 - 22,494,713 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	22,050,443 - 22,269,427 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	21,960,842 - 22,176,399 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	21,810,215 - 22,025,985	NCBI
Celera	X	26,171,770 - 26,387,304 (+)	NCBI		Celera
Cytogenetic Map	X	p22.11	NCBI
HuRef	X	19,791,354 - 20,006,299 (+)	NCBI		HuRef
CHM1_1	X	22,081,373 - 22,297,157 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	21,615,666 - 21,834,723 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

autosomal dominant hypophosphatemic rickets (IAGP)

Craniofacial Abnormalities (EXP)

Experimental Colitis (ISO)

Familial Hypophosphatemic Rickets (EXP,IAGP)

genetic disease (IAGP)

Hypophosphatemic Rickets (IAGP)

kidney failure (ISO)

nephrocalcinosis (EXP)

Neurodevelopmental Disorders (IAGP)

otitis media (ISS)

sensorineural hearing loss (ISO)

syndromic X-linked intellectual disability Lubs type (IAGP)

Unilateral Deafness with Delayed Endolymphatic Hydrops (ISO)

X-linked dominant hypophosphatemic rickets (IAGP,ISO,ISS)

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)

2,4-dibromophenyl 2,4,5-tribromophenyl ether (ISO)

2,6-di-tert-butyl-4-methylphenol (ISO)

3-methylcholanthrene (ISO)

7,12-dimethyltetraphene (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP)

Aflatoxin B2 alpha (EXP)

aflatoxin M1 (EXP)

alachlor (ISO)

all-trans-retinoic acid (ISO)

aluminium oxide (EXP)

ammonium chloride (ISO)

anthracene-1,8,9-triol (ISO)

aristolochic acid A (EXP)

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 (EXP,ISO)

caffeine (ISO)

calcitriol (ISO)

carbon nanotube (ISO)

CGP 52608 (EXP)

cisplatin (EXP)

clofibrate (ISO)

copper atom (EXP)

copper(0) (EXP)

D-mannitol (ISO)

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)

mono(2-ethylhexyl) phthalate (ISO)

nitrofen (ISO)

oxaliplatin (ISO)

paraquat (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)

sodium chloride (ISO)

styrene oxide (ISO)

thyroxine (ISO)

tin(II) chloride (anhydrous) (ISO)

titanium dioxide (ISO)

topotecan (ISO)

tributylstannane (ISO)

trichloroethene (ISO)

vinclozolin (ISO)

XL147 (ISO)

zinc dichloride (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

biomineral tissue development (IEA)

bone development (IEA,ISO)

bone mineralization (IEA,ISO)

cell-cell signaling (TAS)

cellular response to parathyroid hormone stimulus (IEA,ISO)

cellular response to vitamin D (IEA,ISO)

lung development (IEA,ISO)

odontogenesis (IEA,ISO)

organophosphate metabolic process (IEA,ISO)

protein modification process (TAS)

protein processing (IBA)

proteolysis (IDA,IEA,TAS)

response to growth hormone (IEA,ISO)

response to insulin-like growth factor stimulus (IEA,ISO)

response to sodium phosphate (IEA,ISO)

response to vitamin D (IEA,ISO)

skeletal system development (TAS)

Cellular Component

endoplasmic reticulum (IEA)

Golgi apparatus (IEA)

membrane (IEA)

perinuclear region of cytoplasm (IEA)

plasma membrane (IBA,IEA,TAS)

Molecular Function

metal ion binding (IEA)

metalloendopeptidase activity (IBA,IEA,TAS)

metallopeptidase activity (IEA)

protein binding (IPI)

zinc ion binding (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal circulating calcium concentration (IAGP)

Abnormal dentin morphology (IAGP)

Abnormal epiphysis morphology (IAGP)

Abnormal lower-limb metaphysis morphology (IAGP)

Abnormal pelvic girdle bone morphology (IAGP)

Arthralgia (IAGP)

Arthritis (IAGP)

Autism (IAGP)

Bone pain (IAGP)

Bowing of the legs (IAGP)

Bowing of the long bones (IAGP)

Cellulitis (IAGP)

Chiari malformation (IAGP)

Craniosynostosis (IAGP)

Cupped metaphyses of hand bones (IAGP)

Delayed ability to stand (IAGP)

Delayed ability to walk (IAGP)

Delayed gross motor development (IAGP)

Disproportionate short stature (IAGP)

Elevated circulating alkaline phosphatase concentration (IAGP)

Elevated circulating parathyroid hormone level (IAGP)

Enamel hypomineralization (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)

Growth delay (IAGP)

Hepatosplenomegaly (IAGP)

Hypocalciuria (IAGP)

Hypophosphatemia (IAGP)

Hypophosphatemic rickets (IAGP)

Infantile onset (IAGP)

Limitation of joint mobility (IAGP)

Metaphyseal irregularity (IAGP)

Multiple rib fractures (IAGP)

Odontodysplasia (IAGP)

Osteoarthritis (IAGP)

Osteomalacia (IAGP)

Rachitic rosary (IAGP)

Reduced bone mineral density (IAGP)

Renal phosphate wasting (IAGP)

Renal tubular dysfunction (IAGP)

Rickets (IAGP)

Sacroiliac joint synovitis (IAGP)

Sensorineural hearing impairment (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)

Waddling gait (IAGP)

X-linked dominant inheritance (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Differential regulation of PHEX expression in bone and parathyroid gland by chronic renal insufficiency and 1,25-dihydroxyvitamin D3.	Brewer AJ, etal., Am J Physiol Renal Physiol. 2004 Apr;286(4):F739-48. Epub 2003 Dec 23.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.	Holm IA, etal., Am J Hum Genet. 1997 Apr;60(4):790-7.
4.	New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice.	Lorenz-Depiereux B, etal., Mamm Genome. 2004 Mar;15(3):151-61.
5.	A mouse model with postnatal endolymphatic hydrops and hearing loss.	Megerian CA, etal., Hear Res. 2008 Mar;237(1-2):90-105. doi: 10.1016/j.heares.2008.01.002. Epub 2008 Jan 15.
6.	A gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium.	NO_AUTHOR Nat Genet. 1995 Oct;11(2):130-6.
7.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
8.	A novel Phex mutation in a new mouse model of hypophosphatemic rickets.	Owen C, etal., J Cell Biochem. 2012 Jul;113(7):2432-41. doi: 10.1002/jcb.24115.
9.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
11.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12.	Pex gene deletions in Gy and Hyp mice provide mouse models for X-linked hypophosphatemia.	Strom TM, etal., Hum Mol Genet. 1997 Feb;6(2):165-71.
13.	The role of tumor necrosis factor alpha in down-regulation of osteoblast Phex gene expression in experimental murine colitis.	Uno JK, etal., Gastroenterology. 2006 Aug;131(2):497-509.

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:15664000	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:31910300	PMID:31927522	PMID:32253725	PMID:32329911	PMID:32511895	PMID:32772199	PMID:33961781	PMID:34333162	PMID:34525271	PMID:34625379
PMID:34806794	PMID:35055123	PMID:35575683	PMID:35896147	PMID:36351286	PMID:36482408	PMID:37059315	PMID:37278761	PMID:38066669	PMID:38442738	PMID:38927615

Genomics

Comparative Map Data

PHEX
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	22,032,325 - 22,251,310 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	22,032,325 - 22,494,713 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	22,050,443 - 22,269,427 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	21,960,842 - 22,176,399 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	21,810,215 - 22,025,985	NCBI
Celera	X	26,171,770 - 26,387,304 (+)	NCBI		Celera
Cytogenetic Map	X	p22.11	NCBI
HuRef	X	19,791,354 - 20,006,299 (+)	NCBI		HuRef
CHM1_1	X	22,081,373 - 22,297,157 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	21,615,666 - 21,834,723 (+)	NCBI		T2T-CHM13v2.0

Phex
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	155,945,071 - 156,198,282 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	155,945,071 - 156,198,308 (-)	Ensembl		GRCm39 Ensembl
GRCm38	X	157,162,075 - 157,415,286 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	157,162,075 - 157,415,312 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	153,596,618 - 153,853,218 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	152,502,794 - 152,759,383 (-)	NCBI		MGSCv36	mm8
Celera	X	140,419,752 - 140,667,816 (-)	NCBI		Celera
Cytogenetic Map	X	F4	NCBI
cM Map	X	72.38	NCBI

Phex
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	41,422,561 - 41,671,226 (+)	NCBI		GRCr8
mRatBN7.2	X	37,607,553 - 37,856,183 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	37,610,760 - 37,854,469 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	38,808,427 - 39,046,002 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	42,275,631 - 42,513,220 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	39,960,325 - 40,197,897 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	40,460,047 - 40,717,982 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	40,460,047 - 40,717,982 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	40,772,810 - 41,031,710 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	58,911,144 - 59,168,857 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	58,964,612 - 59,222,310 (+)	NCBI
Celera	X	38,233,227 - 38,472,933 (+)	NCBI		Celera
Cytogenetic Map	X	q21	NCBI

Phex
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955509	2,357,263 - 2,546,802 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955509	2,357,263 - 2,546,802 (+)	NCBI	ChiLan1.0	ChiLan1.0

PHEX
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	23,841,047 - 24,060,334 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	23,844,437 - 24,063,724 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	14,663,847 - 14,859,294 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	22,017,678 - 22,235,560 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	22,017,681 - 22,232,501 (+)	Ensembl	panpan1.1		panPan2

PHEX
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	17,830,714 - 18,038,755 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	17,829,158 - 18,035,775 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
ROS_Cfam_1.0	X	17,788,714 - 17,997,786 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	17,788,830 - 17,994,811 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	17,822,506 - 18,032,213 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	17,844,194 - 18,054,186 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	17,904,817 - 18,114,749 (+)	NCBI		UU_Cfam_GSD_1.0

Phex
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	X	10,843,339 - 11,033,426 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936624	2,126,253 - 2,312,847 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936624	2,124,479 - 2,312,847 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PHEX
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	18,203,174 - 18,418,004 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	18,199,396 - 18,420,985 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	19,362,855 - 19,605,399 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PHEX
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	20,507,619 - 20,733,367 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	20,522,498 - 20,734,599 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666056	22,362,964 - 22,589,561 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Phex
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624829	6,960,904 - 7,151,752 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624829	6,960,740 - 7,151,752 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PHEX
795 total Variants

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	pathogenic\|likely pathogenic
PHEX, 2-BP DEL, 675TC	deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011560]	ChrX:Xp22.2-p22.1	pathogenic
NM_000444.6(PHEX):c.119-1G>A	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011561]	ChrX:22038468 [GRCh38] ChrX:22056586 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.119-1G>C	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000011562]	ChrX:22038468 [GRCh38] ChrX:22056586 [GRCh37] ChrX:Xp22.11	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]\|not provided [RCV001367140]	ChrX:22095367 [GRCh38] ChrX:22113485 [GRCh37] ChrX:Xp22.11	pathogenic\|uncertain significance
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]\|not provided [RCV001851795]	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\|benign
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]\|not provided [RCV001381407]	ChrX:22190446 [GRCh38] ChrX:22208563 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000030354]\|not provided [RCV001852599]	ChrX:22226492 [GRCh38] ChrX:22244609 [GRCh37] ChrX:Xp22.11	likely pathogenic\|uncertain significance
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	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.884_885dup (p.Met296fs)	duplication	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000030358]\|not provided [RCV003678979]	ChrX:22096988..22096989 [GRCh38] ChrX:22115106..22115107 [GRCh37] ChrX:Xp22.11	pathogenic\|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.978_979del (p.Tyr327fs)	microsatellite	not provided [RCV001062698]	ChrX:22099048..22099049 [GRCh38] ChrX:22117166..22117167 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2126del (p.Ala709fs)	deletion	not provided [RCV001907670]	ChrX:22245388 [GRCh38] ChrX:22263505 [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]\|not provided [RCV002541818]	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\|conflicting interpretations of pathogenicity\|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]\|PHEX-related disorder [RCV003955245]\|not provided [RCV002057060]\|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 provided [RCV001514162]\|not specified [RCV000244555]	ChrX:22221603 [GRCh38] ChrX:22239720 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.221_222del (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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250611]\|not provided [RCV000280838]	ChrX:22190502 [GRCh38] ChrX:22208619 [GRCh37] ChrX:Xp22.11	pathogenic\|benign
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505395]\|Hypophosphatemic rickets [RCV001843505]\|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	conflicting interpretations of pathogenicity\|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]\|Hypophosphatemic rickets [RCV001843517]\|PHEX-related disorder [RCV003950312]\|not provided [RCV000920929]\|not specified [RCV001796022]	ChrX:22033130 [GRCh38] ChrX:22051248 [GRCh37] ChrX:Xp22.11	benign\|likely benign\|uncertain significance
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter)	duplication	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002248502]\|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\|likely 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	conflicting interpretations of pathogenicity\|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\|likely pathogenic
NM_000444.6(PHEX):c.1025G>A (p.Arg342His)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000319071]\|not provided [RCV002523830]	ChrX:22099097 [GRCh38] ChrX:22117215 [GRCh37] ChrX:Xp22.11	benign\|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]\|PHEX-related disorder [RCV003401222]\|not provided [RCV000315034]\|not specified [RCV003483600]	ChrX:22245366 [GRCh38] ChrX:22263483 [GRCh37] ChrX:Xp22.11	pathogenic\|benign
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]\|not provided [RCV003766115]	ChrX:22133594 [GRCh38] ChrX:22151711 [GRCh37] ChrX:Xp22.11	likely benign\|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	Hypophosphatemic rickets [RCV001843305]\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV004545878]\|not provided [RCV000335413]	ChrX:22114525 [GRCh38] ChrX:22132643 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic\|benign
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	Autosomal dominant hypophosphatemic rickets [RCV002221523]\|Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505449]\|not provided [RCV000351204]	ChrX:22247942 [GRCh38] ChrX:22266059 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic\|benign
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]\|PHEX-related disorder [RCV003902450]	ChrX:22248180 [GRCh38] ChrX:22266297 [GRCh37] ChrX:Xp22.11	likely benign\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002265718]\|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	See cases [RCV002287401]\|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 provided [RCV002523829]\|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]\|not provided [RCV001662359]	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]\|not provided [RCV001512379]	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]\|not provided [RCV001570160]	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]\|not provided [RCV001672739]	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	conflicting interpretations of pathogenicity\|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]\|Hypophosphatemic rickets [RCV001843504]\|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.1027G>A (p.Val343Ile)	single nucleotide variant	not provided [RCV001367830]	ChrX:22099099 [GRCh38] ChrX:22117217 [GRCh37] ChrX:Xp22.11	benign\|uncertain significance
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\|conflicting interpretations of pathogenicity
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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001809791]\|not provided [RCV000734002]	ChrX:22248184 [GRCh38] ChrX:22266301 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
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]\|Hypophosphatemic rickets [RCV001843518]\|not provided [RCV000412793]\|not specified [RCV003483609]	ChrX:22096976 [GRCh38] ChrX:22115094 [GRCh37] ChrX:Xp22.11	pathogenic\|benign
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	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV004545879]\|not provided [RCV000413405]	ChrX:22247940 [GRCh38] ChrX:22266057 [GRCh37] ChrX:Xp22.11	likely pathogenic\|benign
NM_000444.6(PHEX):c.2070+1G>A	single nucleotide variant	not provided [RCV000413408]	ChrX:22227612 [GRCh38] ChrX:22245729 [GRCh37] ChrX:Xp22.11	pathogenic\|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.2244_2245del (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\|conflicting interpretations of pathogenicity
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 provided [RCV001516202]\|not specified [RCV000427359]	ChrX:22168405 [GRCh38] ChrX:22186522 [GRCh37] ChrX:Xp22.11	benign\|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 provided [RCV002059707]\|not specified [RCV000424154]	ChrX:22168368 [GRCh38] ChrX:22186485 [GRCh37] ChrX:Xp22.11	benign\|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	pathogenic\|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 provided [RCV001510910]\|not specified [RCV000425649]	ChrX:22077544 [GRCh38] ChrX:22095662 [GRCh37] ChrX:Xp22.11	benign\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV004545881]\|not provided [RCV000436155]	ChrX:22076478 [GRCh38] ChrX:22094596 [GRCh37] ChrX:Xp22.11	likely pathogenic\|benign\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003133256]\|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]\|not provided [RCV003558429]	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]\|not provided [RCV003558428]	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]\|not provided [RCV001857230]	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_000023.11:g.22130083_22232038dup	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.955AAG[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\|likely 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]\|not provided [RCV001857231]	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]\|not provided [RCV002524420]	ChrX:22219053 [GRCh38] ChrX:22237170 [GRCh37] ChrX:Xp22.11	pathogenic\|likely 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.546_549del (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]\|not provided [RCV001377690]	ChrX:22133624 [GRCh38] ChrX:22151741 [GRCh37] ChrX:Xp22.11	pathogenic\|likely 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]\|not provided [RCV002524418]	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]\|not provided [RCV001381240]	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]\|not provided [RCV002524417]	ChrX:22090502 [GRCh38] ChrX:22108620 [GRCh37] ChrX:Xp22.11	pathogenic\|uncertain significance
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]\|Hypophosphatemic rickets [RCV001843308]	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]\|not provided [RCV002524419]	ChrX:22219041 [GRCh38] ChrX:22237158 [GRCh37] ChrX:Xp22.11	pathogenic\|uncertain significance
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]\|not provided [RCV001865642]	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]\|not provided [RCV003558427]	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\|likely 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]\|Inborn genetic diseases [RCV003243160]\|not provided [RCV002056895]\|not specified [RCV003403182]	ChrX:22133579 [GRCh38] ChrX:22151696 [GRCh37] ChrX:Xp22.11	pathogenic\|benign\|uncertain significance
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]\|not provided [RCV002527330]	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_000444.6(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.758TGG[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	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.1482+1G>A	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250634]\|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	conflicting interpretations of pathogenicity\|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	conflicting interpretations of pathogenicity\|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	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002248710]\|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	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.1202del (p.Pro401fs)	deletion	Hypophosphatemic rickets [RCV001843306]\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002283482]\|not provided [RCV000486814]	ChrX:22096953 [GRCh38] ChrX:22115071 [GRCh37] ChrX:Xp22.11	likely pathogenic\|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.682_683del (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	conflicting interpretations of pathogenicity\|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]\|not specified [RCV002248708]	ChrX:22047192..22047194 [GRCh38] ChrX:22065310..22065312 [GRCh37] ChrX:Xp22.11	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000444.6(PHEX):c.985dup (p.His329fs)	duplication	Hypophosphatemic rickets [RCV001843307]\|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	pathogenic\|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]\|PHEX-related disorder [RCV003952971]\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250671]\|Inborn genetic diseases [RCV000623585]\|not provided [RCV001063543]	ChrX:22227581 [GRCh38] ChrX:22245698 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.2153A>G (p.Asn718Ser)	single nucleotide variant	Inborn genetic diseases [RCV003253145]	ChrX:22247856 [GRCh38] ChrX:22265973 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.1573G>A (p.Val525Ile)	single nucleotide variant	Inborn genetic diseases [RCV003295906]\|not provided [RCV003669378]	ChrX:22178363 [GRCh38] ChrX:22196480 [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	Inborn genetic diseases [RCV004025011]\|not specified [RCV000613805]	ChrX:22077637 [GRCh38] ChrX:22095755 [GRCh37] ChrX:Xp22.11	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
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	pathogenic\|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	Autism [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	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
NM_000444.6(PHEX):c.1174-307T>C	single nucleotide variant	not provided [RCV001645791]	ChrX:22114151 [GRCh38] ChrX:22132269 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.2070+251_2070+254dup	duplication	not provided [RCV001691450]	ChrX:22227860..22227861 [GRCh38] ChrX:22245977..22245978 [GRCh37] ChrX:Xp22.11	benign
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.1474del (p.Leu492fs)	deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003314522]	ChrX:22168380 [GRCh38] ChrX:22186497 [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]\|not provided [RCV001389692]	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]\|not provided [RCV001383914]	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]\|not provided [RCV003688891]	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.2156G>C (p.Gly719Ala)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003448534]	ChrX:22247859 [GRCh38] ChrX:22265976 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.1645+187dup	duplication	not provided [RCV001586263]	ChrX:22190681..22190682 [GRCh38] ChrX:22208798..22208799 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.367_370del (p.Ile123fs)	microsatellite	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002249607]\|not provided [RCV000999351]	ChrX:22076400..22076403 [GRCh38] ChrX:22094518..22094521 [GRCh37] ChrX:Xp22.11	pathogenic\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002505494]\|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	PHEX-related disorder [RCV003405227]\|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	likely pathogenic\|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	pathogenic\|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	likely pathogenic\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002503063]\|not provided [RCV000969760]\|not specified [RCV001288265]	ChrX:22047150 [GRCh38] ChrX:22065268 [GRCh37] ChrX:Xp22.11	benign\|likely 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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002487994]\|not provided [RCV000918827]	ChrX:22099068 [GRCh38] ChrX:22117186 [GRCh37] ChrX:Xp22.11	benign\|likely benign
NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs)	duplication	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002246564]\|not provided [RCV001944937]	ChrX:22221701..22221702 [GRCh38] ChrX:22239818..22239819 [GRCh37] ChrX:Xp22.11	pathogenic
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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002281581]\|not provided [RCV000992531]	ChrX:22219108 [GRCh38] ChrX:22237225 [GRCh37] ChrX:Xp22.11	pathogenic\|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]\|not specified [RCV003987752]	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]\|not provided [RCV001869364]	ChrX:22047116 [GRCh38] ChrX:22065234 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990508]\|not provided [RCV001858724]	ChrX:22076460 [GRCh38] ChrX:22094578 [GRCh37] ChrX:Xp22.11	pathogenic\|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]\|not provided [RCV003558625]	ChrX:22221706 [GRCh38] ChrX:22239823 [GRCh37] ChrX:Xp22.11	likely pathogenic\|uncertain significance
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]\|not provided [RCV001858474]	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]\|not provided [RCV002558644]	ChrX:22178266 [GRCh38] ChrX:22196383 [GRCh37] ChrX:Xp22.11	benign\|likely benign
NM_000444.6(PHEX):c.2068C>A (p.His690Asn)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001168749]\|Inborn genetic diseases [RCV002557455]\|not provided [RCV002558673]	ChrX:22227609 [GRCh38] ChrX:22245726 [GRCh37] ChrX:Xp22.11	benign\|likely benign\|uncertain significance
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]\|not provided [RCV002559596]	ChrX:22090455 [GRCh38] ChrX:22108573 [GRCh37] ChrX:Xp22.11	benign\|uncertain significance
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990526]\|not provided [RCV002549747]	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]\|not provided [RCV001385223]	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	likely pathogenic\|uncertain significance
NM_000444.6(PHEX):c.2083del (p.Ser695fs)	deletion	not provided [RCV001056324]	ChrX:22245344 [GRCh38] ChrX:22263461 [GRCh37] ChrX:Xp22.11	pathogenic\|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	pathogenic\|likely pathogenic\|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.1700+264C>T	single nucleotide variant	not provided [RCV001544742]	ChrX:22213222 [GRCh38] ChrX:22231339 [GRCh37] ChrX:Xp22.11	likely benign
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]\|not provided [RCV003558624]	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	pathogenic\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003994232]\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001810001]\|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	likely pathogenic\|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	pathogenic\|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	pathogenic\|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	pathogenic\|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	pathogenic\|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	likely pathogenic\|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\|benign
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]\|not provided [RCV002549748]	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]\|not provided [RCV001858725]	ChrX:22219085 [GRCh38] ChrX:22237202 [GRCh37] ChrX:Xp22.11	pathogenic\|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]\|not provided [RCV001858726]	ChrX:22245340 [GRCh38] ChrX:22263457 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000990549]\|not provided [RCV003679024]	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]\|PHEX-related disorder [RCV003945890]	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
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_000444.6(PHEX):c.433G>T (p.Glu145Ter)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001580138]	ChrX:22076471 [GRCh38] ChrX:22094589 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.1587-266T>A	single nucleotide variant	not provided [RCV001577255]	ChrX:22190178 [GRCh38] ChrX:22208295 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.2148-335C>T	single nucleotide variant	not provided [RCV001567126]	ChrX:22247516 [GRCh38] ChrX:22265633 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.1080-173G>A	single nucleotide variant	not provided [RCV001574804]	ChrX:22111294 [GRCh38] ChrX:22129412 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)	deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003317745]	ChrX:22226468..22226469 [GRCh38] ChrX:22244585..22244586 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2018T>C (p.Leu673Pro)	single nucleotide variant	not provided [RCV003318228]	ChrX:22227559 [GRCh38] ChrX:22245676 [GRCh37] ChrX:Xp22.11	conflicting interpretations of pathogenicity\|uncertain significance
NM_000444.6(PHEX):c.733-189G>A	single nucleotide variant	not provided [RCV001637665]	ChrX:22093794 [GRCh38] ChrX:22111912 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1900-38G>T	single nucleotide variant	not provided [RCV001555363]	ChrX:22226405 [GRCh38] ChrX:22244522 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.1700+175dup	duplication	not provided [RCV001671282]	ChrX:22213132..22213133 [GRCh38] ChrX:22231249..22231250 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.2070+317G>A	single nucleotide variant	not provided [RCV001716037]	ChrX:22227928 [GRCh38] ChrX:22246045 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1900-211G>A	single nucleotide variant	not provided [RCV001587662]	ChrX:22226232 [GRCh38] ChrX:22244349 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.1966-36G>A	single nucleotide variant	not provided [RCV001544702]	ChrX:22227471 [GRCh38] ChrX:22245588 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.1900-20del	deletion	not provided [RCV001710410]	ChrX:22226412 [GRCh38] ChrX:22244529 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1515C>T (p.Asn505=)	single nucleotide variant	not provided [RCV001676639]	ChrX:22178305 [GRCh38] ChrX:22196422 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.437-208A>G	single nucleotide variant	not provided [RCV001724563]	ChrX:22077268 [GRCh38] ChrX:22095386 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1899+91G>A	single nucleotide variant	not provided [RCV001694677]	ChrX:22221834 [GRCh38] ChrX:22239951 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1645+302T>C	single nucleotide variant	not provided [RCV001559810]	ChrX:22190804 [GRCh38] ChrX:22208921 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.1645+169C>T	single nucleotide variant	not provided [RCV001686244]	ChrX:22190671 [GRCh38] ChrX:22208788 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.440C>T (p.Ala147Val)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002502737]\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002495488]\|not provided [RCV000908505]	ChrX:22133603 [GRCh38] ChrX:22151720 [GRCh37] ChrX:Xp22.11	benign\|likely benign
NM_000444.6(PHEX):c.1437A>G (p.Pro479=)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002479011]\|not provided [RCV000886154]	ChrX:22168344 [GRCh38] ChrX:22186461 [GRCh37] ChrX:Xp22.11	benign\|likely benign
NM_000444.6(PHEX):c.1008C>T (p.Ser336=)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002502778]\|not provided [RCV000916936]	ChrX:22099080 [GRCh38] ChrX:22117198 [GRCh37] ChrX:Xp22.11	benign\|likely benign
NM_000444.6(PHEX):c.441G>A (p.Ala147=)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002505304]\|not provided [RCV000901434]	ChrX:22077480 [GRCh38] ChrX:22095598 [GRCh37] ChrX:Xp22.11	benign\|likely 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	benign\|likely benign
NM_000444.6(PHEX):c.249C>T (p.Phe83=)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002502845]\|not provided [RCV000931297]	ChrX:22047111 [GRCh38] ChrX:22065229 [GRCh37] ChrX:Xp22.11	benign\|likely 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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002246226]\|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	pathogenic\|likely pathogenic\|uncertain significance
NM_000444.6(PHEX):c.1313del (p.Leu438fs)	deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002225128]\|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	pathogenic\|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	pathogenic\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003479295]\|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]\|PHEX-related disorder [RCV003910582]\|not provided [RCV000891006]	ChrX:22094102 [GRCh38] ChrX:22112220 [GRCh37] ChrX:Xp22.11	benign\|likely benign
NM_000444.6(PHEX):c.2148-48T>G	single nucleotide variant	not provided [RCV001547744]	ChrX:22247803 [GRCh38] ChrX:22265920 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.1366T>G (p.Trp456Gly)	single nucleotide variant	not provided [RCV001557183]	ChrX:22133586 [GRCh38] ChrX:22151703 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.1328G>A (p.Arg443His)	single nucleotide variant	Inborn genetic diseases [RCV004651693]\|not provided [RCV001577745]	ChrX:22133548 [GRCh38] ChrX:22151665 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.842T>G (p.Ile281Arg)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002470346]	ChrX:22094092 [GRCh38] ChrX:22112210 [GRCh37] ChrX:Xp22.11	likely pathogenic
GRCh37/hg19 Xp22.11(chrX:22017666-22717072)x2	copy number gain	not provided [RCV002473466]	ChrX:22017666..22717072 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.1701-341T>G	single nucleotide variant	not provided [RCV001637608]	ChrX:22218695 [GRCh38] ChrX:22236812 [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.436+230G>C	single nucleotide variant	not provided [RCV001558725]	ChrX:22076704 [GRCh38] ChrX:22094822 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.1899+304T>C	single nucleotide variant	not provided [RCV001677707]	ChrX:22222047 [GRCh38] ChrX:22240164 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.250G>C (p.Ala84Pro)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003108250]\|not provided [RCV003575034]	ChrX:22047112 [GRCh38] ChrX:22065230 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.349+170A>G	single nucleotide variant	not provided [RCV001555705]	ChrX:22047381 [GRCh38] ChrX:22065499 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.118+317T>C	single nucleotide variant	not provided [RCV001674257]	ChrX:22033440 [GRCh38] ChrX:22051558 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1174-218T>G	single nucleotide variant	not provided [RCV001716565]	ChrX:22114240 [GRCh38] ChrX:22132358 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1302+277G>A	single nucleotide variant	not provided [RCV001687528]	ChrX:22114863 [GRCh38] ChrX:22132981 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1769-173T>C	single nucleotide variant	not provided [RCV001675464]	ChrX:22221440 [GRCh38] ChrX:22239557 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1646-265A>G	single nucleotide variant	not provided [RCV001661059]	ChrX:22212639 [GRCh38] ChrX:22230756 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1080-73C>T	single nucleotide variant	not provided [RCV001661068]	ChrX:22111394 [GRCh38] ChrX:22129512 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.188-291T>G	single nucleotide variant	not provided [RCV001637167]	ChrX:22046759 [GRCh38] ChrX:22064877 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1483-211G>T	single nucleotide variant	not provided [RCV001658660]	ChrX:22178062 [GRCh38] ChrX:22196179 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.2148-302A>G	single nucleotide variant	not provided [RCV001641529]	ChrX:22247549 [GRCh38] ChrX:22265666 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1482+271G>A	single nucleotide variant	not provided [RCV001635824]	ChrX:22168660 [GRCh38] ChrX:22186777 [GRCh37] ChrX:Xp22.11	benign
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.849+128G>A	single nucleotide variant	not provided [RCV001710786]	ChrX:22094227 [GRCh38] ChrX:22112345 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.118+286del	deletion	not provided [RCV001673994]	ChrX:22033404 [GRCh38] ChrX:22051522 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.933+41A>G	single nucleotide variant	not provided [RCV001594727]	ChrX:22097079 [GRCh38] ChrX:22115197 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1769-1G>C	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002246431]\|not provided [RCV001568175]	ChrX:22221612 [GRCh38] ChrX:22239729 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1966-302C>T	single nucleotide variant	not provided [RCV001687854]	ChrX:22227205 [GRCh38] ChrX:22245322 [GRCh37] ChrX:Xp22.11	benign
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	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.187+223G>A	single nucleotide variant	not provided [RCV001586374]	ChrX:22038760 [GRCh38] ChrX:22056878 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.849+1049T>C	single nucleotide variant	not provided [RCV001680478]	ChrX:22095148 [GRCh38] ChrX:22113266 [GRCh37] ChrX:Xp22.11	benign
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.2148-179A>T	single nucleotide variant	not provided [RCV001652052]	ChrX:22247672 [GRCh38] ChrX:22265789 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1079+279C>T	single nucleotide variant	not provided [RCV001609914]	ChrX:22099430 [GRCh38] ChrX:22117548 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1900-122_1900-119dup	duplication	not provided [RCV001679006]	ChrX:22226318..22226319 [GRCh38] ChrX:22244435..22244436 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1900-232A>G	single nucleotide variant	not provided [RCV001669540]	ChrX:22226211 [GRCh38] ChrX:22244328 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1483-312=	single nucleotide variant	not provided [RCV001641028]	ChrX:22177961 [GRCh38] ChrX:22196078 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1586+287G>T	single nucleotide variant	not provided [RCV001613557]	ChrX:22178663 [GRCh38] ChrX:22196780 [GRCh37] ChrX:Xp22.11	benign
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.850-169T>C	single nucleotide variant	not provided [RCV001582175]	ChrX:22096786 [GRCh38] ChrX:22114904 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.1645+110G>T	single nucleotide variant	not provided [RCV001682407]	ChrX:22190612 [GRCh38] ChrX:22208729 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1174-286G>A	single nucleotide variant	not provided [RCV001614835]	ChrX:22114172 [GRCh38] ChrX:22132290 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.437-2A>C	single nucleotide variant	not provided [RCV001059389]	ChrX:22077474 [GRCh38] ChrX:22095592 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.2147+195T>C	single nucleotide variant	not provided [RCV001648728]	ChrX:22245604 [GRCh38] ChrX:22263721 [GRCh37] ChrX:Xp22.11	benign
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	pathogenic\|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	pathogenic\|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	pathogenic\|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	pathogenic\|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	pathogenic\|uncertain significance
NM_000444.6(PHEX):c.649G>T (p.Glu217Ter)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003326144]\|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	pathogenic\|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	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002249806]\|not provided [RCV001215333]	ChrX:22077702 [GRCh38] ChrX:22095820 [GRCh37] ChrX:Xp22.11	pathogenic\|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]\|not provided [RCV003558647]	ChrX:22178319 [GRCh38] ChrX:22196436 [GRCh37] ChrX:Xp22.11	pathogenic\|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]\|not provided [RCV002557456]\|not specified [RCV004690001]	ChrX:22247916 [GRCh38] ChrX:22266033 [GRCh37] ChrX:Xp22.11	benign\|conflicting interpretations of pathogenicity\|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	likely pathogenic\|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
NC_000023.11:g.22213388_22345581del	deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001271109]	ChrX:22213388..22345581 [GRCh38] ChrX:Xp22.11	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	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
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_000444.6(PHEX):c.1850G>T (p.Cys617Phe)	single nucleotide variant	not provided [RCV001341764]	ChrX:22221694 [GRCh38] ChrX:22239811 [GRCh37] ChrX:Xp22.11	likely pathogenic\|uncertain significance
NC_000023.11:g.22243338_22690207del	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.Leu366_Val367insAspTyrLeu)	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	likely pathogenic\|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	pathogenic\|likely pathogenic\|benign
NM_000444.6(PHEX):c.1133T>C (p.Leu378Pro)	single nucleotide variant	not provided [RCV001342791]	ChrX:22111520 [GRCh38] ChrX:22129638 [GRCh37] ChrX:Xp22.11	likely pathogenic\|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	likely pathogenic\|uncertain significance
NM_000444.6(PHEX):c.1645+2T>G	single nucleotide variant	not provided [RCV001382443]	ChrX:22190504 [GRCh38] ChrX:22208621 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2116C>T (p.Gln706Ter)	single nucleotide variant	not provided [RCV001382480]	ChrX:22245378 [GRCh38] ChrX:22263495 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1602G>A (p.Pro534=)	single nucleotide variant	not provided [RCV004598727]	ChrX:22190459 [GRCh38] ChrX:22208576 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.1282C>T (p.Gln428Ter)	single nucleotide variant	not provided [RCV001383221]	ChrX:22114566 [GRCh38] ChrX:22132684 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2179T>C (p.Phe727Leu)	single nucleotide variant	not provided [RCV001360181]	ChrX:22247882 [GRCh38] ChrX:22265999 [GRCh37] ChrX:Xp22.11	pathogenic\|uncertain significance
NM_000444.6(PHEX):c.1812del (p.Thr605fs)	deletion	not provided [RCV001382604]	ChrX:22221656 [GRCh38] ChrX:22239773 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.226C>G (p.Pro76Ala)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002499710]\|not provided [RCV001355226]	ChrX:22047088 [GRCh38] ChrX:22065206 [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	likely benign\|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.1933G>A (p.Ala645Thr)	single nucleotide variant	not provided [RCV001370177]	ChrX:22226476 [GRCh38] ChrX:22244593 [GRCh37] ChrX:Xp22.11	likely pathogenic\|uncertain significance
NM_000444.6(PHEX):c.479T>C (p.Leu160Pro)	single nucleotide variant	not provided [RCV001374068]	ChrX:22077518 [GRCh38] ChrX:22095636 [GRCh37] ChrX:Xp22.11	likely pathogenic\|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	pathogenic\|uncertain significance
NM_000444.6(PHEX):c.1876T>C (p.Tyr626His)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002476599]\|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
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_22151640)_(22151741_?)dup	duplication	not provided [RCV001299578]	ChrX:22151640..22151741 [GRCh37] ChrX:Xp22.11	pathogenic\|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	likely pathogenic\|conflicting interpretations of pathogenicity\|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	pathogenic\|uncertain significance
NM_000444.6(PHEX):c.819_845del (p.Val274_Ala282del)	deletion	not provided [RCV001367408]	ChrX:22094068..22094094 [GRCh38] ChrX:22112186..22112212 [GRCh37] ChrX:Xp22.11	pathogenic\|uncertain significance
NC_000023.10:g.(?_22151640)_(22186506_?)dup	duplication	not provided [RCV001327820]	ChrX:22151640..22186506 [GRCh37] ChrX:Xp22.11	uncertain significance
NC_000023.10:g.(?_22056587)_(22292386_?)dup	duplication	not provided [RCV001372126]	ChrX:22056587..22292386 [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
NM_000444.6(PHEX):c.2T>C (p.Met1Thr)	single nucleotide variant	not provided [RCV001387066]	ChrX:22033007 [GRCh38] ChrX:22051125 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22231021)_(22245728_?)del	deletion	not provided [RCV001389403]	ChrX:22231021..22245728 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002246373]\|not provided [RCV001387629]	ChrX:22133529 [GRCh38] ChrX:22151646 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.552del (p.Lys184fs)	deletion	not provided [RCV001380667]	ChrX:22077591 [GRCh38] ChrX:22095709 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.898del (p.Lys299_Met300insTer)	deletion	not provided [RCV001385728]	ChrX:22097000 [GRCh38] ChrX:22115118 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1398dup (p.Glu467fs)	duplication	not provided [RCV001381326]	ChrX:22133615..22133616 [GRCh38] ChrX:22151732..22151733 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.616_617del (p.Leu206fs)	deletion	not provided [RCV001390689]	ChrX:22077654..22077655 [GRCh38] ChrX:22095772..22095773 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.750C>G (p.Tyr250Ter)	single nucleotide variant	not provided [RCV001388467]	ChrX:22094000 [GRCh38] ChrX:22112118 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1818_1821dup (p.Glu608fs)	duplication	not provided [RCV001386509]	ChrX:22221660..22221661 [GRCh38] ChrX:22239777..22239778 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.891C>G (p.Tyr297Ter)	single nucleotide variant	not provided [RCV001388638]	ChrX:22096996 [GRCh38] ChrX:22115114 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2221A>T (p.Arg741Ter)	single nucleotide variant	not provided [RCV001391022]	ChrX:22247924 [GRCh38] ChrX:22266041 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.437-1G>C	single nucleotide variant	not provided [RCV001379816]	ChrX:22077475 [GRCh38] ChrX:22095593 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.436+3G>C	single nucleotide variant	not provided [RCV001378984]	ChrX:22076477 [GRCh38] ChrX:22094595 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.1600C>A (p.Pro534Thr)	single nucleotide variant	not provided [RCV001378986]	ChrX:22190457 [GRCh38] ChrX:22208574 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.593dup (p.Tyr198Ter)	duplication	not provided [RCV001387979]	ChrX:22077631..22077632 [GRCh38] ChrX:22095749..22095750 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.72C>T (p.Val24=)	single nucleotide variant	not provided [RCV001440900]	ChrX:22033077 [GRCh38] ChrX:22051195 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.733-2A>C	single nucleotide variant	not provided [RCV001377793]	ChrX:22093981 [GRCh38] ChrX:22112099 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.887_888insA (p.Met296fs)	insertion	not provided [RCV001380305]	ChrX:22096992..22096993 [GRCh38] ChrX:22115110..22115111 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.188-1G>A	single nucleotide variant	not provided [RCV001388152]	ChrX:22047049 [GRCh38] ChrX:22065167 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.717_721del (p.Ser239fs)	deletion	not provided [RCV001389359]	ChrX:22090478..22090482 [GRCh38] ChrX:22108596..22108600 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1982_1986dup (p.Asp663Ter)	duplication	not provided [RCV001380330]	ChrX:22227522..22227523 [GRCh38] ChrX:22245639..22245640 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.177C>A (p.Cys59Ter)	single nucleotide variant	not provided [RCV001387387]	ChrX:22038527 [GRCh38] ChrX:22056645 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1079+2T>G	single nucleotide variant	not provided [RCV001381239]	ChrX:22099153 [GRCh38] ChrX:22117271 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.587del (p.Gly196fs)	deletion	not provided [RCV001381263]	ChrX:22077625 [GRCh38] ChrX:22095743 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1847_1848del (p.Lys616fs)	deletion	not provided [RCV001389486]	ChrX:22221689..22221690 [GRCh38] ChrX:22239806..22239807 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2061_2070+7del	deletion	not provided [RCV001379357]	ChrX:22227602..22227618 [GRCh38] ChrX:22245719..22245735 [GRCh37] ChrX:Xp22.11	likely pathogenic
NC_000023.10:g.(?_22065168)_(22132704_?)dup	duplication	not provided [RCV001389606]	ChrX:22065168..22132704 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22265992)_22266306del	deletion	not provided [RCV001389607]		pathogenic
NC_000023.10:g.(?_22117199)_22177147del	deletion	not provided [RCV001389608]		pathogenic
NM_000444.6(PHEX):c.1531A>T (p.Lys511Ter)	single nucleotide variant	not provided [RCV001384980]	ChrX:22178321 [GRCh38] ChrX:22196438 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2067_2068dup (p.His690fs)	duplication	not provided [RCV001386409]	ChrX:22227606..22227607 [GRCh38] ChrX:22245723..22245724 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1446_1452del (p.Ile482fs)	deletion	not provided [RCV001386410]	ChrX:22168351..22168357 [GRCh38] ChrX:22186468..22186474 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.468dup (p.Leu157fs)	duplication	not provided [RCV001380895]	ChrX:22077506..22077507 [GRCh38] ChrX:22095624..22095625 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2044del (p.Gln682fs)	deletion	not provided [RCV001388543]	ChrX:22227584 [GRCh38] ChrX:22245701 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22263450)_(22263526_?)del	deletion	not provided [RCV001379302]	ChrX:22263450..22263526 [GRCh37] ChrX:Xp22.11	likely pathogenic
NC_000023.10:g.(?_22108537)_(22108625_?)del	deletion	not provided [RCV001379303]	ChrX:22108537..22108625 [GRCh37] ChrX:Xp22.11	likely pathogenic
NC_000023.10:g.(?_22112101)_(22112217_?)del	deletion	not provided [RCV001379304]	ChrX:22112101..22112217 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.2012del (p.Pro671fs)	deletion	not provided [RCV001383658]	ChrX:22227552 [GRCh38] ChrX:22245669 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1707_1710dup (p.Tyr571fs)	duplication	not provided [RCV001381408]	ChrX:22219040..22219041 [GRCh38] ChrX:22237157..22237158 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1303-10T>A	single nucleotide variant	not provided [RCV001423969]	ChrX:22133513 [GRCh38] ChrX:22151630 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.994del (p.Asp332fs)	deletion	not provided [RCV001386728]	ChrX:22099066 [GRCh38] ChrX:22117184 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.361A>T (p.Lys121Ter)	single nucleotide variant	not provided [RCV001387595]	ChrX:22076399 [GRCh38] ChrX:22094517 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.349+2T>C	single nucleotide variant	not provided [RCV001383765]	ChrX:22047213 [GRCh38] ChrX:22065331 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.455dup (p.Asp152fs)	duplication	not provided [RCV001388481]	ChrX:22077493..22077494 [GRCh38] ChrX:22095611..22095612 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22237133)_(22239880_?)del	deletion	not provided [RCV001381803]	ChrX:22237133..22239880 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22237153)_(22245728_?)del	deletion	not provided [RCV001381804]	ChrX:22237153..22245728 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22263430)_(22266301_?)del	deletion	not provided [RCV001381805]	ChrX:22263430..22266301 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22094486)_(22151761_?)del	deletion	not provided [RCV001381806]	ChrX:22094486..22151761 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22094506)_(22108615_?)del	deletion	not provided [RCV001381807]	ChrX:22094506..22108615 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1543_1544del (p.Gln515fs)	microsatellite	not provided [RCV001381581]	ChrX:22178331..22178332 [GRCh38] ChrX:22196448..22196449 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2058_2061dup (p.Tyr688fs)	duplication	not provided [RCV001388897]	ChrX:22227597..22227598 [GRCh38] ChrX:22245714..22245715 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22186468)_22186740del	deletion	not provided [RCV001378771]		likely pathogenic
NC_000023.10:g.(?_22244540)_(22244645_?)del	deletion	not provided [RCV001384396]	ChrX:22244540..22244645 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_21958943)_(22208619_?)del	deletion	not provided [RCV001384399]	ChrX:21958943..22208619 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2030_2031dup (p.Phe678fs)	microsatellite	not provided [RCV001382091]	ChrX:22227568..22227569 [GRCh38] ChrX:22245685..22245686 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1137_1149del (p.Arg380fs)	deletion	not provided [RCV001382092]	ChrX:22111522..22111534 [GRCh38] ChrX:22129640..22129652 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2165_2184dup (p.Lys729fs)	duplication	not provided [RCV001382100]	ChrX:22247867..22247868 [GRCh38] ChrX:22265984..22265985 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.933+286G>A	single nucleotide variant	not provided [RCV001619373]	ChrX:22097324 [GRCh38] ChrX:22115442 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.2009A>T (p.Glu670Val)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001682633]	ChrX:22227550 [GRCh38] ChrX:22245667 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.2070+325C>T	single nucleotide variant	not provided [RCV001670697]	ChrX:22227936 [GRCh38] ChrX:22246053 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1900-121_1900-120insATGA	insertion	not provided [RCV001709373]	ChrX:22226321..22226322 [GRCh38] ChrX:22244438..22244439 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1645+212A>G	single nucleotide variant	not provided [RCV001654843]	ChrX:22190714 [GRCh38] ChrX:22208831 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.2147+170A>G	single nucleotide variant	not provided [RCV001592652]	ChrX:22245579 [GRCh38] ChrX:22263696 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.188-47C>T	single nucleotide variant	not provided [RCV001686414]	ChrX:22047003 [GRCh38] ChrX:22065121 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1645+174T>G	single nucleotide variant	not provided [RCV001650129]	ChrX:22190676 [GRCh38] ChrX:22208793 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1701-207A>G	single nucleotide variant	not provided [RCV001693687]	ChrX:22218829 [GRCh38] ChrX:22236946 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.664-124G>C	single nucleotide variant	not provided [RCV001665922]	ChrX:22090305 [GRCh38] ChrX:22108423 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1079+213T>C	single nucleotide variant	not provided [RCV001665968]	ChrX:22099364 [GRCh38] ChrX:22117482 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.934-217A>C	single nucleotide variant	not provided [RCV001688064]	ChrX:22098789 [GRCh38] ChrX:22116907 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1334C>A (p.Ala445Asp)	single nucleotide variant	not provided [RCV001379571]	ChrX:22133554 [GRCh38] ChrX:22151671 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.1390_1404+1del	deletion	not provided [RCV001387826]	ChrX:22133603..22133618 [GRCh38] ChrX:22151720..22151735 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.779T>G (p.Leu260Ter)	single nucleotide variant	not provided [RCV001381087]	ChrX:22094029 [GRCh38] ChrX:22112147 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2151C>G (p.Val717=)	single nucleotide variant	not provided [RCV001518538]	ChrX:22247854 [GRCh38] ChrX:22265971 [GRCh37] ChrX:Xp22.11	benign
NM_000444.6(PHEX):c.1470A>T (p.Glu490Asp)	single nucleotide variant	not provided [RCV001501610]	ChrX:22168377 [GRCh38] ChrX:22186494 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.1335C>A (p.Ala445=)	single nucleotide variant	not provided [RCV001484416]	ChrX:22133555 [GRCh38] ChrX:22151672 [GRCh37] ChrX:Xp22.11	likely benign
NM_000444.6(PHEX):c.2248T>C (p.Ter750Gln)	single nucleotide variant	not provided [RCV001378268]	ChrX:22247951 [GRCh38] ChrX:22266068 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.423del (p.Cys142fs)	deletion	not provided [RCV001383461]	ChrX:22076460 [GRCh38] ChrX:22094578 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1173+1G>A	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002246374]\|not provided [RCV001389006]	ChrX:22111561 [GRCh38] ChrX:22129679 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1174-1G>A	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002246375]\|not provided [RCV001389007]	ChrX:22114457 [GRCh38] ChrX:22132575 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1332G>A (p.Trp444Ter)	single nucleotide variant	not provided [RCV001389008]	ChrX:22133552 [GRCh38] ChrX:22151669 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1210del (p.Asp404fs)	deletion	not provided [RCV001383638]	ChrX:22114492 [GRCh38] ChrX:22132610 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22182690)_22186483del	deletion	not provided [RCV001376783]		likely pathogenic
NM_000444.6(PHEX):c.437-2A>G	single nucleotide variant	not provided [RCV001383459]	ChrX:22077474 [GRCh38] ChrX:22095592 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.82G>A (p.Gly28Ser)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002495800]\|not provided [RCV001514812]	ChrX:22033087 [GRCh38] ChrX:22051205 [GRCh37] ChrX:Xp22.11	benign\|likely benign
NM_000444.6(PHEX):c.1640A>C (p.Gln547Pro)	single nucleotide variant	not provided [RCV001378763]	ChrX:22190497 [GRCh38] ChrX:22208614 [GRCh37] ChrX:Xp22.11	likely pathogenic
NC_000023.10:g.(?_22050695)_(22076478_?)del	deletion	not provided [RCV004578610]	ChrX:22050695..22076478 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22186409)_(22266301_?)del	deletion	not provided [RCV001389402]	ChrX:22186409..22266301 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2022del (p.Gly675fs)	deletion	not provided [RCV001384128]	ChrX:22227563 [GRCh38] ChrX:22245680 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003235569]\|not provided [RCV001378985]	ChrX:22094074 [GRCh38] ChrX:22112192 [GRCh37] ChrX:Xp22.11	likely pathogenic
NC_000023.10:g.(?_22208541)_(22208639_?)del	deletion	not provided [RCV001384395]	ChrX:22208541..22208639 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1826_1830del (p.Glu609fs)	deletion	not provided [RCV001386510]	ChrX:22221667..22221671 [GRCh38] ChrX:22239784..22239788 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1843del (p.Thr615fs)	deletion	not provided [RCV001386511]	ChrX:22221682 [GRCh38] ChrX:22239799 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1404+2_1404+6del	deletion	not provided [RCV001386307]	ChrX:22133622..22133626 [GRCh38] ChrX:22151739..22151743 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2249A>T (p.Ter750Leu)	single nucleotide variant	not provided [RCV001379551]	ChrX:22247952 [GRCh38] ChrX:22266069 [GRCh37] ChrX:Xp22.11	likely pathogenic
NC_000023.10:g.(?_22108527)_(22108635_?)del	deletion	not provided [RCV001384397]	ChrX:22108527..22108635 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2182C>T (p.Gln728Ter)	single nucleotide variant	not provided [RCV001390160]	ChrX:22247885 [GRCh38] ChrX:22266002 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2096A>T (p.Glu699Val)	single nucleotide variant	not provided [RCV001755014]	ChrX:22245358 [GRCh38] ChrX:22263475 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.1376C>A (p.Ala459Glu)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002227912]	ChrX:22133596 [GRCh38] ChrX:22151713 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.673del (p.Ala225fs)	deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250199]	ChrX:22090438 [GRCh38] ChrX:22108556 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250201]	ChrX:22090470 [GRCh38] ChrX:22108588 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.732+3_732+6del	deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250202]	ChrX:22090498..22090501 [GRCh38] ChrX:22108616..22108619 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1302+2T>A	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250206]	ChrX:22114588 [GRCh38] ChrX:22132706 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1718del (p.Ala573fs)	deletion	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250214]	ChrX:22219053 [GRCh38] ChrX:22237170 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1769-1G>A	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250215]	ChrX:22221612 [GRCh38] ChrX:22239729 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250216]\|not provided [RCV003094034]	ChrX:22221623 [GRCh38] ChrX:22239740 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250217]	ChrX:22221684 [GRCh38] ChrX:22239801 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250221]	ChrX:22245394 [GRCh38] ChrX:22263511 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1325_1326insCCCACCC (p.Arg443fs)	insertion	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002227913]	ChrX:22133545..22133546 [GRCh38] ChrX:22151662..22151663 [GRCh37] ChrX:Xp22.11	pathogenic
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_000444.6(PHEX):c.874dup (p.Thr292fs)	duplication	not provided [RCV001870621]	ChrX:22096977..22096978 [GRCh38] ChrX:22115095..22115096 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.64_65delinsTT (p.Ala22Phe)	indel	not provided [RCV001806554]	ChrX:22033069..22033070 [GRCh38] ChrX:22051187..22051188 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.1586+3G>T	single nucleotide variant	not provided [RCV002009028]	ChrX:22178379 [GRCh38] ChrX:22196496 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.1229_1232del (p.Ile410fs)	deletion	not provided [RCV001949567]	ChrX:22114512..22114515 [GRCh38] ChrX:22132630..22132633 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.759G>A (p.Met253Ile)	single nucleotide variant	not provided [RCV001857787]	ChrX:22094009 [GRCh38] ChrX:22112127 [GRCh37] ChrX:Xp22.11	likely pathogenic\|uncertain significance
NM_000444.6(PHEX):c.2008G>A (p.Glu670Lys)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001823441]	ChrX:22227549 [GRCh38] ChrX:22245666 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.1302+1G>A	single nucleotide variant	not provided [RCV001910193]	ChrX:22114587 [GRCh38] ChrX:22132705 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.755T>C (p.Phe252Ser)	single nucleotide variant	not provided [RCV001857790]	ChrX:22094005 [GRCh38] ChrX:22112123 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22012410)_(22151761_?)del	deletion	not provided [RCV001946931]	ChrX:22012410..22151761 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2147_2147+3del	deletion	not provided [RCV001947917]	ChrX:22245407..22245410 [GRCh38] ChrX:22263524..22263527 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1053_1077dup (p.Lys360Ter)	duplication	not provided [RCV001908463]	ChrX:22099124..22099125 [GRCh38] ChrX:22117242..22117243 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1152T>G (p.Tyr384Ter)	single nucleotide variant	not provided [RCV001949700]	ChrX:22111539 [GRCh38] ChrX:22129657 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1316T>G (p.Val439Gly)	single nucleotide variant	Hypophosphatemic rickets [RCV001843312]	ChrX:22133536 [GRCh38] ChrX:22151653 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.567_568del (p.Gln189fs)	deletion	Hypophosphatemic rickets [RCV001843313]	ChrX:22077605..22077606 [GRCh38] ChrX:22095723..22095724 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.652_655del (p.His218fs)	deletion	Hypophosphatemic rickets [RCV001843314]	ChrX:22077690..22077693 [GRCh38] ChrX:22095808..22095811 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1336_1337insAATA (p.Phe446Ter)	insertion	Hypophosphatemic rickets [RCV001843318]	ChrX:22133556..22133557 [GRCh38] ChrX:22151673..22151674 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2158_2165del (p.Gly719_Ala720insTer)	deletion	not provided [RCV001927515]	ChrX:22247861..22247868 [GRCh38] ChrX:22265978..22265985 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.356T>G (p.Leu119Trp)	single nucleotide variant	not provided [RCV001946447]	ChrX:22076394 [GRCh38] ChrX:22094512 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2084C>G (p.Ser695Cys)	single nucleotide variant	not provided [RCV001894706]	ChrX:22245346 [GRCh38] ChrX:22263463 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.1864T>C (p.Tyr622His)	single nucleotide variant	not provided [RCV002025377]	ChrX:22221708 [GRCh38] ChrX:22239825 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.1173+1G>T	single nucleotide variant	not provided [RCV001909612]	ChrX:22111561 [GRCh38] ChrX:22129679 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2050_2055del (p.Phe684_Phe685del)	deletion	not provided [RCV001966063]	ChrX:22227589..22227594 [GRCh38] ChrX:22245706..22245711 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.187+3_187+6del	deletion	not provided [RCV002042804]	ChrX:22038538..22038541 [GRCh38] ChrX:22056656..22056659 [GRCh37] ChrX:Xp22.11	uncertain significance
NC_000023.10:g.(?_21755681)_(22266301_?)del	deletion	not provided [RCV001870831]	ChrX:21755681..22266301 [GRCh37] ChrX:Xp22.12-22.11	pathogenic
NC_000023.10:g.(?_22132556)_(22132724_?)del	deletion	not provided [RCV001927206]	ChrX:22132556..22132724 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.933+1G>A	single nucleotide variant	not provided [RCV002002188]	ChrX:22097039 [GRCh38] ChrX:22115157 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.11:g.22247852del	deletion	not provided [RCV001983061]	ChrX:22247850 [GRCh38] ChrX:22265967 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1733_1736del (p.Val578fs)	deletion	not provided [RCV001965043]	ChrX:22219067..22219070 [GRCh38] ChrX:22237184..22237187 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2048T>A (p.Leu683His)	single nucleotide variant	Hypophosphatemic rickets [RCV001843321]	ChrX:22227589 [GRCh38] ChrX:22245706 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.2071-1G>C	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002246537]\|Hypophosphatemic rickets [RCV001843331]\|not provided [RCV001869827]	ChrX:22245332 [GRCh38] ChrX:22263449 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1966-1G>A	single nucleotide variant	Hypophosphatemic rickets [RCV001843333]\|not provided [RCV001885369]	ChrX:22227506 [GRCh38] ChrX:22245623 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.142dup (p.Gln48fs)	duplication	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001837613]	ChrX:22038490..22038491 [GRCh38] ChrX:22056608..22056609 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.304G>T (p.Gly102Trp)	single nucleotide variant	not provided [RCV002024302]	ChrX:22047166 [GRCh38] ChrX:22065284 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.1080-3C>G	single nucleotide variant	not provided [RCV001914236]	ChrX:22111464 [GRCh38] ChrX:22129582 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2214_2234del (p.Met739_Ser745del)	deletion	not provided [RCV001890894]	ChrX:22247916..22247936 [GRCh38] ChrX:22266033..22266053 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.2173del (p.Glu725fs)	deletion	not provided [RCV001969867]	ChrX:22247876 [GRCh38] ChrX:22265993 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.134_135insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACCTCGTGATCCGCCCGCCCCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAAGGTCTCTT (p.Leu45fs)	insertion	not provided [RCV002007544]	ChrX:22038473..22038474 [GRCh38] ChrX:22056591..22056592 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.934-1G>A	single nucleotide variant	not provided [RCV002007253]	ChrX:22099005 [GRCh38] ChrX:22117123 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.665_674del	deletion	Hypophosphatemic rickets [RCV001843315]	ChrX:22090427..22090436 [GRCh38] ChrX:22108545..22108554 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.826A>T (p.Arg276Ter)	single nucleotide variant	Hypophosphatemic rickets [RCV001843336]	ChrX:22094076 [GRCh38] ChrX:22112194 [GRCh37] ChrX:Xp22.11	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_000444.6(PHEX):c.496C>T (p.Arg166Cys)	single nucleotide variant	not provided [RCV001928010]	ChrX:22077535 [GRCh38] ChrX:22095653 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.1969T>A (p.Tyr657Asn)	single nucleotide variant	not provided [RCV002021085]	ChrX:22227510 [GRCh38] ChrX:22245627 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.229T>A (p.Cys77Ser)	single nucleotide variant	Hypophosphatemic rickets [RCV001843688]	ChrX:22047091 [GRCh38] ChrX:22065209 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.316del (p.Trp106fs)	deletion	not provided [RCV001911139]	ChrX:22047177 [GRCh38] ChrX:22065295 [GRCh37] ChrX:Xp22.11	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_000444.6(PHEX):c.1621T>G (p.Tyr541Asp)	single nucleotide variant	not provided [RCV002006303]	ChrX:22190478 [GRCh38] ChrX:22208595 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.663+1G>T	single nucleotide variant	Hypophosphatemic rickets [RCV001843334]\|not provided [RCV001869828]	ChrX:22077703 [GRCh38] ChrX:22095821 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1970A>G (p.Tyr657Cys)	single nucleotide variant	Hypophosphatemic rickets [RCV001843692]\|not provided [RCV001869857]	ChrX:22227511 [GRCh38] ChrX:22245628 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2071-2A>C	single nucleotide variant	not provided [RCV001982901]	ChrX:22245331 [GRCh38] ChrX:22263448 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.849+1G>T	single nucleotide variant	not provided [RCV001909591]	ChrX:22094100 [GRCh38] ChrX:22112218 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1079+1G>T	single nucleotide variant	not provided [RCV001928075]	ChrX:22099152 [GRCh38] ChrX:22117270 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1220T>G (p.Val407Gly)	single nucleotide variant	not provided [RCV002043846]	ChrX:22114504 [GRCh38] ChrX:22132622 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.1735G>T (p.Gly579Ter)	single nucleotide variant	not provided [RCV002002027]	ChrX:22219070 [GRCh38] ChrX:22237187 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1482+2T>A	single nucleotide variant	Hypophosphatemic rickets [RCV001843335]	ChrX:22168391 [GRCh38] ChrX:22186508 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1875_1882dup (p.Lys628fs)	duplication	not provided [RCV001889666]	ChrX:22221717..22221718 [GRCh38] ChrX:22239834..22239835 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2188G>T (p.Ala730Ser)	single nucleotide variant	Hypophosphatemic rickets [RCV001843696]	ChrX:22247891 [GRCh38] ChrX:22266008 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.1920_1929del (p.Gly641fs)	deletion	Hypophosphatemic rickets [RCV001843316]	ChrX:22226462..22226471 [GRCh38] ChrX:22244579..22244588 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1965+1del	deletion	Hypophosphatemic rickets [RCV001843317]	ChrX:22226507 [GRCh38] ChrX:22244624 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1536T>A (p.Tyr512Ter)	single nucleotide variant	not provided [RCV001946658]	ChrX:22178326 [GRCh38] ChrX:22196443 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22231001)_(22231095_?)del	deletion	not provided [RCV001890686]	ChrX:22231001..22231095 [GRCh37] ChrX:Xp22.11	pathogenic
GRCh37/hg19 Xp22.12-22.11(chrX:20760624-22571267)x2	copy number gain	not provided [RCV001827761]	ChrX:20760624..22571267 [GRCh37] ChrX:Xp22.12-22.11	uncertain significance
NM_000444.6(PHEX):c.1387dup (p.Arg463fs)	duplication	not provided [RCV001920410]	ChrX:22133603..22133604 [GRCh38] ChrX:22151720..22151721 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1769-2A>G	single nucleotide variant	not provided [RCV001963299]	ChrX:22221611 [GRCh38] ChrX:22239728 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1937A>G (p.Asp646Gly)	single nucleotide variant	not provided [RCV001999762]	ChrX:22226480 [GRCh38] ChrX:22244597 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1138del (p.Arg380fs)	deletion	not provided [RCV001962439]	ChrX:22111525 [GRCh38] ChrX:22129643 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2199T>A (p.Cys733Ter)	single nucleotide variant	not provided [RCV001942301]	ChrX:22247902 [GRCh38] ChrX:22266019 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22196370)_(22196513_?)del	deletion	not provided [RCV001962906]	ChrX:22196370..22196513 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22129565)_(22132724_?)del	deletion	not provided [RCV001999810]	ChrX:22129565..22132724 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1079+2_1079+5del	deletion	not provided [RCV001942327]	ChrX:22099150..22099153 [GRCh38] ChrX:22117268..22117271 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1646-2A>G	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002246619]\|not provided [RCV001942332]	ChrX:22212902 [GRCh38] ChrX:22231019 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1087G>C (p.Ala363Pro)	single nucleotide variant	not provided [RCV002037735]	ChrX:22111474 [GRCh38] ChrX:22129592 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1646-1G>C	single nucleotide variant	not provided [RCV001999744]	ChrX:22212903 [GRCh38] ChrX:22231020 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.907del (p.Ser303fs)	deletion	not provided [RCV001942321]	ChrX:22097010 [GRCh38] ChrX:22115128 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1946_1954del (p.Gly649_Arg651del)	deletion	not provided [RCV002037774]	ChrX:22226488..22226496 [GRCh38] ChrX:22244605..22244613 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.161dup (p.Cys54fs)	duplication	not provided [RCV001941980]	ChrX:22038510..22038511 [GRCh38] ChrX:22056628..22056629 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22186409)_(22186526_?)del	deletion	not provided [RCV002019848]	ChrX:22186409..22186526 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.1645+4A>C	single nucleotide variant	not provided [RCV002036559]	ChrX:22190506 [GRCh38] ChrX:22208623 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.413_419dup (p.Ser141fs)	duplication	not provided [RCV001939758]	ChrX:22076449..22076450 [GRCh38] ChrX:22094567..22094568 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.807del (p.His269fs)	deletion	not provided [RCV002037843]	ChrX:22094057 [GRCh38] ChrX:22112175 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.981C>A (p.Tyr327Ter)	single nucleotide variant	not provided [RCV001886790]	ChrX:22099053 [GRCh38] ChrX:22117171 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.255T>A (p.Cys85Ter)	single nucleotide variant	not provided [RCV001994611]	ChrX:22047117 [GRCh38] ChrX:22065235 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1501_1506del (p.Asp501_Tyr502del)	deletion	not provided [RCV002038711]	ChrX:22178290..22178295 [GRCh38] ChrX:22196407..22196412 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.732+1G>T	single nucleotide variant	not provided [RCV001886471]	ChrX:22090498 [GRCh38] ChrX:22108616 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1985del (p.Asn662fs)	deletion	not provided [RCV002000135]	ChrX:22227524 [GRCh38] ChrX:22245641 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_21958943)_(22051261_?)del	deletion	not provided [RCV001942138]	ChrX:21958943..22051261 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22151620)_(22151761_?)del	deletion	not provided [RCV001942139]	ChrX:22151620..22151761 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22239710)_(22239880_?)del	deletion	not provided [RCV001942141]	ChrX:22239710..22239880 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22265969)_(22266663_?)del	deletion	not provided [RCV001942150]	ChrX:22265969..22266663 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1921G>T (p.Gly641Ter)	single nucleotide variant	not provided [RCV002037969]	ChrX:22226464 [GRCh38] ChrX:22244581 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1426G>A (p.Val476Ile)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003134324]\|not provided [RCV002001054]	ChrX:22168333 [GRCh38] ChrX:22186450 [GRCh37] ChrX:Xp22.11	uncertain significance
NC_000023.10:g.(?_22186409)_(22208639_?)dup	duplication	not provided [RCV002019485]	ChrX:22186409..22208639 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.732+3A>T	single nucleotide variant	not provided [RCV001903012]	ChrX:22090500 [GRCh38] ChrX:22108618 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.350-1G>C	single nucleotide variant	not provided [RCV001887585]	ChrX:22076387 [GRCh38] ChrX:22094505 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly)	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002246658]\|not provided [RCV002026635]	ChrX:22099118 [GRCh38] ChrX:22117236 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.1769-6_1784dup	duplication	not provided [RCV001943808]	ChrX:22221606..22221607 [GRCh38] ChrX:22239723..22239724 [GRCh37] ChrX:Xp22.11	uncertain significance
NC_000023.10:g.(?_22056567)_(22056675_?)del	deletion	not provided [RCV001996126]	ChrX:22056567..22056675 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NC_000023.10:g.(?_22115053)_(22115176_?)del	deletion	not provided [RCV001996140]	ChrX:22115053..22115176 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.2071-1G>T	single nucleotide variant	not provided [RCV001899338]	ChrX:22245332 [GRCh38] ChrX:22263449 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.227_240del (p.Pro76fs)	deletion	not provided [RCV002011958]	ChrX:22047087..22047100 [GRCh38] ChrX:22065205..22065218 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1951del (p.Arg651fs)	deletion	not provided [RCV002014558]	ChrX:22226494 [GRCh38] ChrX:22244611 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22094486)_(22117289_?)dup	duplication	not provided [RCV001996198]	ChrX:22094486..22117289 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.1724G>A (p.Gly575Glu)	single nucleotide variant	not provided [RCV001898345]	ChrX:22219059 [GRCh38] ChrX:22237176 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22112081)_(22117289_?)del	deletion	not provided [RCV001956564]	ChrX:22112081..22117289 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1185del (p.Thr396fs)	deletion	not provided [RCV001930229]	ChrX:22114466 [GRCh38] ChrX:22132584 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.943_946del (p.Leu315fs)	microsatellite	not provided [RCV001934000]	ChrX:22099011..22099014 [GRCh38] ChrX:22117129..22117132 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.895A>T (p.Lys299Ter)	single nucleotide variant	not provided [RCV001934032]	ChrX:22097000 [GRCh38] ChrX:22115118 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.349+1G>T	single nucleotide variant	not provided [RCV001953466]	ChrX:22047212 [GRCh38] ChrX:22065330 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.444del (p.Ile148fs)	deletion	not provided [RCV001994638]	ChrX:22077482 [GRCh38] ChrX:22095600 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22094486)_(22266301_?)del	deletion	not provided [RCV001953809]	ChrX:22094486..22266301 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.436+6T>A	single nucleotide variant	not provided [RCV001989381]	ChrX:22076480 [GRCh38] ChrX:22094598 [GRCh37] ChrX:Xp22.11	likely pathogenic
NC_000023.10:g.(?_22265948)_(22266301_?)del	deletion	not provided [RCV001951398]	ChrX:22265948..22266301 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1052_1053insAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGATTTGTT (p.Phe351delinsLeuAspIleProAsnAlaArgTer)	insertion	not provided [RCV001930784]	ChrX:22099113..22099114 [GRCh38] ChrX:22117231..22117232 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_21985294)_(22196513_?)del	deletion	not provided [RCV001972444]	ChrX:21985294..22196513 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.719del (p.Thr240fs)	deletion	not provided [RCV001918811]	ChrX:22090484 [GRCh38] ChrX:22108602 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22108527)_(22108635_?)dup	duplication	not provided [RCV002014088]	ChrX:22108527..22108635 [GRCh37] ChrX:Xp22.11	uncertain significance
NC_000023.10:g.(?_22245604)_(22245748_?)del	deletion	not provided [RCV002011614]	ChrX:22245604..22245748 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_000444.6(PHEX):c.931C>T (p.Gln311Ter)	single nucleotide variant	not provided [RCV001884405]	ChrX:22097036 [GRCh38] ChrX:22115154 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1206del (p.Gln402fs)	deletion	not provided [RCV001994690]	ChrX:22114489 [GRCh38] ChrX:22132607 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22231001)_(22266301_?)dup	duplication	not provided [RCV002031939]	ChrX:22231001..22266301 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.1324G>T (p.Val442Phe)	single nucleotide variant	not provided [RCV002036699]	ChrX:22133544 [GRCh38] ChrX:22151661 [GRCh37] ChrX:Xp22.11	conflicting interpretations of pathogenicity\|uncertain significance
NM_000444.6(PHEX):c.1700+5G>A	single nucleotide variant	not provided [RCV002026081]	ChrX:22212963 [GRCh38] ChrX:22231080 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_000444.6(PHEX):c.1059del (p.Ile353_Leu354insTer)	deletion	not provided [RCV001940044]	ChrX:22099131 [GRCh38] ChrX:22117249 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2157_2160dup (p.Ile721fs)	duplication	not provided [RCV001939440]	ChrX:22247859..22247860 [GRCh38] ChrX:22265976..22265977 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1590G>A (p.Trp530Ter)	single nucleotide variant	not provided [RCV001951301]	ChrX:22190447 [GRCh38] ChrX:22208564 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.409dup (p.Ile137fs)	duplication	not provided [RCV001905581]	ChrX:22076443..22076444 [GRCh38] ChrX:22094561..22094562 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1168del (p.Ser390fs)	deletion	not provided [RCV001993371]	ChrX:22111555 [GRCh38] ChrX:22129673 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2099del (p.Ala700fs)	deletion	not provided [RCV001870225]	ChrX:22245361 [GRCh38] ChrX:22263478 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.2240G>C (p.Arg747Pro)	single nucleotide variant	not provided [RCV002034135]	ChrX:22247943 [GRCh38] ChrX:22266060 [GRCh37] ChrX:Xp22.11	likely pathogenic
NC_000023.10:g.(?_22186409)_(22266301_?)dup	duplication	not provided [RCV002014090]	ChrX:22186409..22266301 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_000444.6(PHEX):c.2071-2_2072del	deletion	not provided [RCV001883370]	ChrX:22245330..22245333 [GRCh38] ChrX:22263447..22263450 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.853dup (p.Met285fs)	duplication	not provided [RCV002035430]	ChrX:22096956..22096957 [GRCh38] ChrX:22115074..22115075 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1873_1876dup (p.Tyr626fs)	duplication	not provided [RCV001974733]	ChrX:22221716..22221717 [GRCh38] ChrX:22239833..22239834 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.643dup (p.Ser215fs)	duplication	not provided [RCV001978837]	ChrX:22077681..22077682 [GRCh38] ChrX:22095799..22095800 [GRCh37] ChrX:Xp22.11	pathogenic
NC_000023.10:g.(?_22239710)_(22245748_?)dup	duplication	not provided [RCV001996190]	ChrX:22239710..22245748 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NC_000023.10:g.(?_22244540)_(22245748_?)del	deletion	not provided [RCV001951350]	ChrX:22244540..22245748 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.202dup (p.Ser68fs)	duplication	not provided [RCV001951241]	ChrX:22047062..22047063 [GRCh38] ChrX:22065180..22065181 [GRCh37] ChrX:Xp22.11	pathogenic
NM_000444.6(PHEX):c.1587-16G>T	single nucleotide variant	Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002500

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar