PTCHD1-AS (PTCHD1 antisense RNA (head to head)) - Rat Genome Database

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Gene: PTCHD1-AS (PTCHD1 antisense RNA (head to head)) Homo sapiens
Analyze
Symbol: PTCHD1-AS
Name: PTCHD1 antisense RNA (head to head)
RGD ID: 8552624
HGNC Page HGNC:37703
Description: ASSOCIATED WITH amenorrhea; Autism; autistic disorder; INTERACTS WITH aflatoxin B1; Aflatoxin B2 alpha; benzo[e]pyrene
Type: ncrna (Ensembl: lncRNA)
RefSeq Status: VALIDATED
Previously known as: DDX53-AS1; PHEX-AS1; PTCHD1AS1; PTCHD1AS2
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X22,193,005 - 23,293,146 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX22,191,895 - 22,235,358 (-)EnsemblGRCh38hg38GRCh38
GRCh37X22,211,122 - 23,311,263 (-)NCBIGRCh37GRCh37hg19GRCh37
Cytogenetic MapXp22.11NCBI
HuRefX20,017,934 - 21,052,530 (-)NCBIHuRef
CHM1_1X22,308,597 - 23,342,369 (-)NCBICHM1_1
T2T-CHM13v2.0X21,776,342 - 22,876,714 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
Additional References at PubMed
PMID:16344560   PMID:20844286   PMID:20932654  


Genomics

Variants

.
Variants in PTCHD1-AS
375 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NR_073010.1(PTCHD1-AS):n.511+44964T>C single nucleotide variant Lung cancer [RCV000102473] ChrX:22344699 [GRCh38]
ChrX:22362816 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NR_073010.1(PTCHD1-AS):n.511+41565G>A single nucleotide variant Lung cancer [RCV000102474] ChrX:22348098 [GRCh38]
ChrX:22366215 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NR_073010.1(PTCHD1-AS):n.454-53309T>C single nucleotide variant Lung cancer [RCV000102475] ChrX:22443029 [GRCh38]
ChrX:22461146 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NR_073010.1(PTCHD1-AS):n.454-172885G>T single nucleotide variant Lung cancer [RCV000102476] ChrX:22562605 [GRCh38]
ChrX:22580722 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NR_073010.1(PTCHD1-AS):n.344-87044G>A single nucleotide variant Lung cancer [RCV000102477] ChrX:22830382 [GRCh38]
ChrX:22848499 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NR_073010.1(PTCHD1-AS):n.344-116047C>A single nucleotide variant Lung cancer [RCV000102478] ChrX:22859385 [GRCh38]
ChrX:22877502 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.1599T>C (p.Leu533=) single nucleotide variant DDX53-related disorder [RCV003941777] ChrX:23001656 [GRCh38]
ChrX:23019773 [GRCh37]
ChrX:Xp22.11		 benign
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.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_182699.4(DDX53):c.1144C>A (p.Leu382Met) single nucleotide variant DDX53-related disorder [RCV003893783] ChrX:23001201 [GRCh38]
ChrX:23019318 [GRCh37]
ChrX:Xp22.11		 likely benign
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 Xp22.33-11.23(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 Xp22.33-11.21(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-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 Xp22.33-11.21(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 Xp22.11-11.4(chrX:22420237-38834728)x1 copy number loss See cases [RCV000053063] ChrX:22420237..38834728 [GRCh38]
ChrX:22438354..38693981 [GRCh37]
ChrX:22348275..38578925 [NCBI36]
ChrX:Xp22.11-11.4		 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: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: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-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 Xp22.33-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 Xp22.33-11.3(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: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: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: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 Xp22.33-11.22(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: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-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
NM_152577.3(ZNF645):c.869C>T (p.Ser290Leu) single nucleotide variant Malignant melanoma [RCV000073149] ChrX:22273860 [GRCh38]
ChrX:22291977 [GRCh37]
ChrX:22201898 [NCBI36]
ChrX:Xp22.11		 not provided
NM_182699.4(DDX53):c.1117T>C (p.Leu373=) single nucleotide variant DDX53-related disorder [RCV003968912] ChrX:23001174 [GRCh38]
ChrX:23019291 [GRCh37]
ChrX:Xp22.11		 likely benign
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: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 Xp22.11(chrX:23251335-23463809)x2 copy number gain See cases [RCV000134573] ChrX:23251335..23463809 [GRCh38]
ChrX:23269452..23481926 [GRCh37]
ChrX:23179373..23391847 [NCBI36]
ChrX:Xp22.11		 uncertain significance
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-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 Xp22.11(chrX:22797762-23103990)x1 copy number loss See cases [RCV000137469] ChrX:22797762..23103990 [GRCh38]
ChrX:22815879..23122107 [GRCh37]
ChrX:22725800..23032028 [NCBI36]
ChrX:Xp22.11		 uncertain significance
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
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 Xp22.33-11.23(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: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: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-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: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-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: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 Xp22.33-11.22(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 Xp22.33-11.23(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-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: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 Xp22.33-11.21(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 Xp22.11(chrX:22774924-23081201)x0 copy number loss See cases [RCV000135288] ChrX:22774924..23081201 [GRCh38]
ChrX:22793041..23099318 [GRCh37]
ChrX:22702962..23009239 [NCBI36]
ChrX:Xp22.11		 likely 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 Xp22.31-11.22(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 Xp22.33-11.23(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 Xp22.33-11.22(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-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 Xp22.33-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 Xp22.33-11.4(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 Xp22.11(chrX:22618623-23233979)x1 copy number loss See cases [RCV000137867] ChrX:22618623..23233979 [GRCh38]
ChrX:22636740..23252096 [GRCh37]
ChrX:22546661..23162017 [NCBI36]
ChrX:Xp22.11		 uncertain significance
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 Xp22.33-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 Xp22.33-21.1(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 Xp22.2-21.2(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 Xp22.11(chrX:22797762-22853238)x2 copy number gain See cases [RCV000140357] ChrX:22797762..22853238 [GRCh38]
ChrX:22815879..22871355 [GRCh37]
ChrX:22725800..22781276 [NCBI36]
ChrX:Xp22.11		 benign
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 Xp22.33-11.1(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-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 Xp22.11(chrX:22876030-22942627)x1 copy number loss See cases [RCV000140535] ChrX:22876030..22942627 [GRCh38]
ChrX:22894147..22960744 [GRCh37]
ChrX:22804068..22870665 [NCBI36]
ChrX:Xp22.11		 benign
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 Xp22.33-11.22(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 Xp22.33-11.22(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-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-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 Xp22.33-11.21(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 Xp22.2-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-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 Xp22.11(chrX:22708737-23013878)x0 copy number loss See cases [RCV000137667] ChrX:22708737..23013878 [GRCh38]
ChrX:22726854..23031995 [GRCh37]
ChrX:22636775..22941916 [NCBI36]
ChrX:Xp22.11		 uncertain significance
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 Xp22.11(chrX:22824476-23142353)x0 copy number loss See cases [RCV000143294] ChrX:22824476..23142353 [GRCh38]
ChrX:22842593..23160470 [GRCh37]
ChrX:22752514..23070391 [NCBI36]
ChrX:Xp22.11		 uncertain significance
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: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-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 Xp22.33-21.1(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 Xp22.33-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-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 Xp22.11(chrX:23052089-23365234)x0 copy number loss See cases [RCV000142730] ChrX:23052089..23365234 [GRCh38]
ChrX:23070206..23383351 [GRCh37]
ChrX:22980127..23293272 [NCBI36]
ChrX:Xp22.11		 uncertain significance
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: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
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-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 Xp22.33-11.21(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-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
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.2066C>T (p.Ala689Val) single nucleotide variant PHEX-related disorder [RCV004731913] ChrX:22227607 [GRCh38]
ChrX:22245724 [GRCh37]
ChrX:Xp22.11		 likely 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
NM_000444.6(PHEX):c.1706T>G (p.Leu569Arg) single nucleotide variant PHEX-related disorder [RCV003899288] ChrX:22219041 [GRCh38]
ChrX:22237158 [GRCh37]
ChrX:Xp22.11		 uncertain significance
GRCh38/hg38 Xp22.11(chrX:22939885-23001905)x1 copy number loss Premature ovarian failure [RCV000225165] ChrX:22939885..23001905 [GRCh38]
ChrX:22958001..23020021 [GRCh37]
ChrX:Xp22.11		 benign
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.*48G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000291816]|not provided [RCV004703890] ChrX:22248001 [GRCh38]
ChrX:22266118 [GRCh37]
ChrX:Xp22.11		 likely 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.*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.1800dup (p.Pro601fs) duplication not provided [RCV000324307] ChrX:22221643..22221644 [GRCh38]
ChrX:22239760..22239761 [GRCh37]
ChrX:Xp22.11		 pathogenic
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.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.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.1843dup (p.Thr615fs) duplication not provided [RCV000280710] ChrX:22221681..22221682 [GRCh38]
ChrX:22239798..22239799 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1979G>A (p.Trp660Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505395]|Hypophosphatemic rickets [RCV001843505]|not provided [RCV000285863] ChrX:22227520 [GRCh38]
ChrX:22245637 [GRCh37]
ChrX:Xp22.11		 pathogenic
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.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.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.1936_1939dup (p.Asn647delinsArgTer) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV004782334]|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.1701-2A>G single nucleotide variant not provided [RCV000394268] ChrX:22219034 [GRCh38]
ChrX:22237151 [GRCh37]
ChrX:Xp22.11		 pathogenic
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.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.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.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] ChrX:22245366 [GRCh38]
ChrX:22263483 [GRCh37]
ChrX:Xp22.11		 pathogenic|benign
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.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.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.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.*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.*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.*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.*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.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.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.1868G>A (p.Ser623Asn) single nucleotide variant PHEX-related disorder [RCV004732075] ChrX:22221712 [GRCh38]
ChrX:22239829 [GRCh37]
ChrX:Xp22.11		 uncertain significance
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.2198G>A (p.Cys733Tyr) single nucleotide variant not provided [RCV000413547] ChrX:22247901 [GRCh38]
ChrX:22266018 [GRCh37]
ChrX:Xp22.11		 pathogenic|likely 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.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.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.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.2015T>C (p.Leu672Pro) single nucleotide variant not specified [RCV000414091] ChrX:22227556 [GRCh38]
ChrX:22245673 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.812G>A (p.Gly271Glu) single nucleotide variant not specified [RCV000414563] ChrX:23000869 [GRCh38]
ChrX:23018986 [GRCh37]
ChrX:Xp22.11		 uncertain significance
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.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.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.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.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.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.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
NC_000023.10:g.23209046_23463336del254291 deletion Primary amenorrhea [RCV000754477] ChrX:23190929..23445219 [GRCh38]
ChrX:23209046..23463336 [GRCh37]
ChrX:Xp22.11		 likely benign
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.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.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.1768+2del deletion not provided [RCV000486710] ChrX:22219105 [GRCh38]
ChrX:22237222 [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.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.1706dup (p.Ser570fs) duplication not provided [RCV000483750] ChrX:22219040..22219041 [GRCh38]
ChrX:22237157..22237158 [GRCh37]
ChrX:Xp22.11		 pathogenic
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.1719dup (p.Ile574fs) duplication not provided [RCV000479664] ChrX:22219053..22219054 [GRCh38]
ChrX:22237170..22237171 [GRCh37]
ChrX:Xp22.11		 pathogenic
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.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.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.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.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.1966_1969dup (p.Tyr657fs) duplication not provided [RCV000482207] ChrX:22227506..22227507 [GRCh38]
ChrX:22245623..22245624 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_182699.4(DDX53):c.488G>A (p.Cys163Tyr) single nucleotide variant not provided [RCV000478125] ChrX:23000545 [GRCh38]
ChrX:23018662 [GRCh37]
ChrX:Xp22.11		 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.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.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.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.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.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
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
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.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.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
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.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.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
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.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.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
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
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
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.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
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.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.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.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.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.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.2093del (p.Pro698fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV000505505] ChrX:22245354 [GRCh38]
ChrX:22263471 [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+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
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.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.2071-4C>G single nucleotide variant not specified [RCV000611852] ChrX:22245329 [GRCh38]
ChrX:22263446 [GRCh37]
ChrX:Xp22.11		 likely benign
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.2171_2172del (p.Asn723_Phe724insTer) deletion not provided [RCV000657811] ChrX:22247873..22247874 [GRCh38]
ChrX:22265990..22265991 [GRCh37]
ChrX:Xp22.11		 pathogenic|likely pathogenic
NM_000444.6(PHEX):c.*231A>G single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001809791]|PHEX-related disorder [RCV004753024]|not provided [RCV000734002]|not specified [RCV004768623] ChrX:22248184 [GRCh38]
ChrX:22266301 [GRCh37]
ChrX:Xp22.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 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.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]|not provided [RCV004721583] ChrX:22245402 [GRCh38]
ChrX:22263519 [GRCh37]
ChrX:Xp22.11		 pathogenic|likely pathogenic
Single allele duplication Autism [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11		 likely pathogenic
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_152577.4(CBLL2):c.1167G>A (p.Arg389=) single nucleotide variant not provided [RCV000961790] ChrX:22274158 [GRCh38]
ChrX:22292275 [GRCh37]
ChrX:Xp22.11		 benign
NM_182699.4(DDX53):c.1707C>T (p.Thr569=) single nucleotide variant not provided [RCV000916129] ChrX:23001764 [GRCh38]
ChrX:23019881 [GRCh37]
ChrX:Xp22.11		 benign
NM_152577.4(CBLL2):c.539T>A (p.Ile180Asn) single nucleotide variant not provided [RCV000970385] ChrX:22273530 [GRCh38]
ChrX:22291647 [GRCh37]
ChrX:Xp22.11		 benign
NM_182699.4(DDX53):c.315C>T (p.Ala105=) single nucleotide variant DDX53-related disorder [RCV003960555]|not provided [RCV000943449] ChrX:23000372 [GRCh38]
ChrX:23018489 [GRCh37]
ChrX:Xp22.11		 benign
NM_152577.4(CBLL2):c.645A>C (p.Leu215=) single nucleotide variant not provided [RCV000970386] ChrX:22273636 [GRCh38]
ChrX:22291753 [GRCh37]
ChrX:Xp22.11		 benign
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.1965+10G>A single nucleotide variant not provided [RCV000944043] ChrX:22226518 [GRCh38]
ChrX:22244635 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_182699.4(DDX53):c.113A>G (p.His38Arg) single nucleotide variant DDX53-related disorder [RCV003950510]|not provided [RCV000898278] ChrX:23000170 [GRCh38]
ChrX:23018287 [GRCh37]
ChrX:Xp22.11		 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_182699.4(DDX53):c.319G>T (p.Ala107Ser) single nucleotide variant DDX53-related disorder [RCV003940636]|not provided [RCV000889411]|not specified [RCV001702067] ChrX:23000376 [GRCh38]
ChrX:23018493 [GRCh37]
ChrX:Xp22.11		 benign|likely benign
NM_152577.4(CBLL2):c.98T>A (p.Ile33Asn) single nucleotide variant not provided [RCV000888478] ChrX:22273089 [GRCh38]
ChrX:22291206 [GRCh37]
ChrX:Xp22.11		 benign
NM_182699.4(DDX53):c.490G>A (p.Glu164Lys) single nucleotide variant DDX53-related disorder [RCV003940651]|not provided [RCV000889804] ChrX:23000547 [GRCh38]
ChrX:23018664 [GRCh37]
ChrX:Xp22.11		 likely benign
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.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.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.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
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.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.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.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.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
NM_182699.4(DDX53):c.1496G>T (p.Gly499Val) single nucleotide variant DDX53-related disorder [RCV003978321]|not provided [RCV000958314] ChrX:23001553 [GRCh38]
ChrX:23019670 [GRCh37]
ChrX:Xp22.11		 benign
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.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.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.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.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.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.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.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.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
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.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.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.1881G>A (p.Trp627Ter) single nucleotide variant not provided [RCV001058881] ChrX:22221725 [GRCh38]
ChrX:22239842 [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
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.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.1806dup (p.Trp603fs) duplication not provided [RCV001046884] ChrX:22221648..22221649 [GRCh38]
ChrX:22239765..22239766 [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
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
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
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.2085del (p.Tyr696fs) deletion not provided [RCV001056325] ChrX:22245346 [GRCh38]
ChrX:22263463 [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.2083del (p.Ser695fs) deletion not provided [RCV001056324] ChrX:22245344 [GRCh38]
ChrX:22263461 [GRCh37]
ChrX:Xp22.11		 pathogenic|likely 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
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.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.2213C>T (p.Thr738Met) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001168750]|PHEX-related disorder [RCV004753224]|not provided [RCV002557456]|not specified [RCV004690001] ChrX:22247916 [GRCh38]
ChrX:22266033 [GRCh37]
ChrX:Xp22.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
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.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.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.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.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.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.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.2189del (p.Ala730fs) deletion not provided [RCV001218409] ChrX:22247892 [GRCh38]
ChrX:22266009 [GRCh37]
ChrX:Xp22.11		 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.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.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.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.1848del (p.Lys616fs) deletion not provided [RCV001205334] ChrX:22221689 [GRCh38]
ChrX:22239806 [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.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.1806del (p.Trp602fs) deletion not provided [RCV001233388] ChrX:22221649 [GRCh38]
ChrX:22239766 [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.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.1768+1del deletion not provided [RCV001207116] ChrX:22219103 [GRCh38]
ChrX:22237220 [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.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.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.2239del (p.Arg747fs) deletion not provided [RCV001214030] ChrX:22247941 [GRCh38]
ChrX:22266058 [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.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.2164del (p.Ser722fs) deletion not provided [RCV001221409] ChrX:22247867 [GRCh38]
ChrX:22265984 [GRCh37]
ChrX:Xp22.11		 pathogenic
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.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.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.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.2021del (p.Pro674fs) deletion not provided [RCV001247895] ChrX:22227561 [GRCh38]
ChrX:22245678 [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.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.1768+2T>G single nucleotide variant not provided [RCV001213206] ChrX:22219105 [GRCh38]
ChrX:22237222 [GRCh37]
ChrX:Xp22.11		 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.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.2071-2A>G single nucleotide variant not provided [RCV001268141] ChrX:22245331 [GRCh38]
ChrX:22263448 [GRCh37]
ChrX:Xp22.11		 pathogenic
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.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.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.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.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.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.22213388_22345581del deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV001271109] ChrX:22213388..22345581 [GRCh38]
ChrX:Xp22.11		 pathogenic
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.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.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.2022del (p.Gly675fs) deletion not provided [RCV001384128] ChrX:22227563 [GRCh38]
ChrX:22245680 [GRCh37]
ChrX:Xp22.11		 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.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.1812del (p.Thr605fs) deletion not provided [RCV001382604] ChrX:22221656 [GRCh38]
ChrX:22239773 [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
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.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.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.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.2061_2070+7del deletion not provided [RCV001379357] ChrX:22227602..22227618 [GRCh38]
ChrX:22245719..22245735 [GRCh37]
ChrX:Xp22.11		 likely 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.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.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.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.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.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.2044del (p.Gln682fs) deletion not provided [RCV001388543] ChrX:22227584 [GRCh38]
ChrX:22245701 [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.2249A>T (p.Ter750Leu) single nucleotide variant not provided [RCV001379551] ChrX:22247952 [GRCh38]
ChrX:22266069 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
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.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.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.1900-38G>T single nucleotide variant not provided [RCV001555363] ChrX:22226405 [GRCh38]
ChrX:22244522 [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.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.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.2148-302A>G single nucleotide variant not provided [RCV001641529] ChrX:22247549 [GRCh38]
ChrX:22265666 [GRCh37]
ChrX:Xp22.11		 benign
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.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.2148-179A>T single nucleotide variant not provided [RCV001652052] ChrX:22247672 [GRCh38]
ChrX:22265789 [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.2147+195T>C single nucleotide variant not provided [RCV001648728] ChrX:22245604 [GRCh38]
ChrX:22263721 [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.1900-20del deletion not provided [RCV001710410] ChrX:22226412 [GRCh38]
ChrX:22244529 [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.1700+175dup duplication not provided [RCV001671282] ChrX:22213132..22213133 [GRCh38]
ChrX:22231249..22231250 [GRCh37]
ChrX:Xp22.11		 benign
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.1769-173T>C single nucleotide variant not provided [RCV001675464] ChrX:22221440 [GRCh38]
ChrX:22239557 [GRCh37]
ChrX:Xp22.11		 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.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.1646-265A>G single nucleotide variant not provided [RCV001661059] ChrX:22212639 [GRCh38]
ChrX:22230756 [GRCh37]
ChrX:Xp22.11		 benign
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.1966-302C>T single nucleotide variant not provided [RCV001687854] ChrX:22227205 [GRCh38]
ChrX:22245322 [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.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.2070+317G>A single nucleotide variant not provided [RCV001716037] ChrX:22227928 [GRCh38]
ChrX:22246045 [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.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.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.2126del (p.Ala709fs) deletion not provided [RCV001907670] ChrX:22245388 [GRCh38]
ChrX:22263505 [GRCh37]
ChrX:Xp22.11		 pathogenic
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.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.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.1965+1del deletion Hypophosphatemic rickets [RCV001843317] ChrX:22226507 [GRCh38]
ChrX:22244624 [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.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.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.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.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.2071-2A>C single nucleotide variant not provided [RCV001982901] ChrX:22245331 [GRCh38]
ChrX:22263448 [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.2188G>T (p.Ala730Ser) single nucleotide variant Hypophosphatemic rickets [RCV001843696] ChrX:22247891 [GRCh38]
ChrX:22266008 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_182699.4(DDX53):c.24G>A (p.Trp8Ter) single nucleotide variant Nephrotic syndrome [RCV001849624] ChrX:23000081 [GRCh38]
ChrX:23018198 [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.1700+5G>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV004785457]|not provided [RCV002026081] ChrX:22212963 [GRCh38]
ChrX:22231080 [GRCh37]
ChrX:Xp22.11		 likely 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.1875_1882dup (p.Lys628fs) duplication not provided [RCV001889666] ChrX:22221717..22221718 [GRCh38]
ChrX:22239834..22239835 [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.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.2147_2147+3del deletion not provided [RCV001947917] ChrX:22245407..22245410 [GRCh38]
ChrX:22263524..22263527 [GRCh37]
ChrX:Xp22.11		 pathogenic
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.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.1951del (p.Arg651fs) deletion not provided [RCV002014558] ChrX:22226494 [GRCh38]
ChrX:22244611 [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.2071-1G>T single nucleotide variant not provided [RCV001899338] ChrX:22245332 [GRCh38]
ChrX:22263449 [GRCh37]
ChrX:Xp22.11		 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
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.2071-19G>A single nucleotide variant not provided [RCV002087595] ChrX:22245314 [GRCh38]
ChrX:22263431 [GRCh37]
ChrX:Xp22.11		 likely benign
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.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.1985del (p.Asn662fs) deletion not provided [RCV002000135] ChrX:22227524 [GRCh38]
ChrX:22245641 [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
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.2240G>C (p.Arg747Pro) single nucleotide variant not provided [RCV002034135] ChrX:22247943 [GRCh38]
ChrX:22266060 [GRCh37]
ChrX:Xp22.11		 likely 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.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.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.1769-6_1784dup duplication not provided [RCV001943808] ChrX:22221606..22221607 [GRCh38]
ChrX:22239723..22239724 [GRCh37]
ChrX:Xp22.11		 uncertain significance
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.2071-2_2072del deletion not provided [RCV001883370] ChrX:22245330..22245333 [GRCh38]
ChrX:22263447..22263450 [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.1965+14C>A single nucleotide variant not provided [RCV002151846] ChrX:22226522 [GRCh38]
ChrX:22244639 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.1900-12T>C single nucleotide variant not provided [RCV002096747] ChrX:22226431 [GRCh38]
ChrX:22244548 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.1646-2A>C single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250212] ChrX:22212902 [GRCh38]
ChrX:22231019 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2139del (p.Gln714fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250222] ChrX:22245401 [GRCh38]
ChrX:22263518 [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.2092_2096del (p.Pro698fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002250220] ChrX:22245350..22245354 [GRCh38]
ChrX:22263467..22263471 [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.2248T>G (p.Ter750Glu) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002284001] ChrX:22247951 [GRCh38]
ChrX:22266068 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1861C>T (p.Gln621Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002283599] ChrX:22221705 [GRCh38]
ChrX:22239822 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1967C>A (p.Ala656Asp) single nucleotide variant not provided [RCV002296707] ChrX:22227508 [GRCh38]
ChrX:22245625 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2207A>G (p.Asn736Ser) single nucleotide variant not provided [RCV002299890] ChrX:22247910 [GRCh38]
ChrX:22266027 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1996_1999del (p.Gln666fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002466772] ChrX:22227534..22227537 [GRCh38]
ChrX:22245651..22245654 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_000444.6(PHEX):c.1957G>C (p.Ala653Pro) single nucleotide variant not provided [RCV002991588] ChrX:22226500 [GRCh38]
ChrX:22244617 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2052_2058del (p.Phe684fs) deletion not provided [RCV002991854] ChrX:22227593..22227599 [GRCh38]
ChrX:22245710..22245716 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_182699.4(DDX53):c.1244G>A (p.Arg415His) single nucleotide variant not specified [RCV004087181] ChrX:23001301 [GRCh38]
ChrX:23019418 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.1693G>A (p.Gly565Ser) single nucleotide variant not specified [RCV004092031] ChrX:23001750 [GRCh38]
ChrX:23019867 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1701-1G>C single nucleotide variant not provided [RCV003012201] ChrX:22219035 [GRCh38]
ChrX:22237152 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1972dup (p.Arg658fs) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV002472188] ChrX:22227512..22227513 [GRCh38]
ChrX:22245629..22245630 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1726G>A (p.Val576Ile) single nucleotide variant not provided [RCV002304989] ChrX:22219061 [GRCh38]
ChrX:22237178 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.1241T>C (p.Val414Ala) single nucleotide variant not specified [RCV004121204] ChrX:23001298 [GRCh38]
ChrX:23019415 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1779T>C (p.Tyr593=) single nucleotide variant not provided [RCV002816149] ChrX:22221623 [GRCh38]
ChrX:22239740 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.1777dup (p.Tyr593fs) duplication not provided [RCV003033131] ChrX:22221620..22221621 [GRCh38]
ChrX:22239737..22239738 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2037C>T (p.Thr679=) single nucleotide variant not provided [RCV002996046] ChrX:22227578 [GRCh38]
ChrX:22245695 [GRCh37]
ChrX:Xp22.11		 benign
NM_000444.6(PHEX):c.1966-19C>T single nucleotide variant not provided [RCV002995078] ChrX:22227488 [GRCh38]
ChrX:22245605 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_182699.4(DDX53):c.1313T>C (p.Val438Ala) single nucleotide variant not specified [RCV004170044] ChrX:23001370 [GRCh38]
ChrX:23019487 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1985dup (p.Asn662fs) duplication not provided [RCV002820000] ChrX:22227523..22227524 [GRCh38]
ChrX:22245640..22245641 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1700+5G>C single nucleotide variant not provided [RCV003053500] ChrX:22212963 [GRCh38]
ChrX:22231080 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_000444.6(PHEX):c.1715G>C (p.Gly572Ala) single nucleotide variant not provided [RCV002796781] ChrX:22219050 [GRCh38]
ChrX:22237167 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_000444.6(PHEX):c.2223_2224dup (p.Gly742fs) microsatellite not provided [RCV003020137] ChrX:22247923..22247924 [GRCh38]
ChrX:22266040..22266041 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1768+19T>C single nucleotide variant not provided [RCV002866743] ChrX:22219122 [GRCh38]
ChrX:22237239 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.1930A>G (p.Ile644Val) single nucleotide variant not provided [RCV002999454] ChrX:22226473 [GRCh38]
ChrX:22244590 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.2110C>T (p.Gln704Ter) single nucleotide variant not provided [RCV003100663] ChrX:22245372 [GRCh38]
ChrX:22263489 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2059A>C (p.Ser687Arg) single nucleotide variant not provided [RCV003018393] ChrX:22227600 [GRCh38]
ChrX:22245717 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_182699.4(DDX53):c.1157T>C (p.Phe386Ser) single nucleotide variant not specified [RCV004243598] ChrX:23001214 [GRCh38]
ChrX:23019331 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1851_1854dup (p.Ile619fs) duplication not provided [RCV002872123] ChrX:22221691..22221692 [GRCh38]
ChrX:22239808..22239809 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1701-2A>C single nucleotide variant not provided [RCV002825722] ChrX:22219034 [GRCh38]
ChrX:22237151 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_182699.4(DDX53):c.400A>G (p.Ile134Val) single nucleotide variant DDX53-related disorder [RCV003953970]|not provided [RCV003434593]|not specified [RCV004069224] ChrX:23000457 [GRCh38]
ChrX:23018574 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.1818A>G (p.Glu606=) single nucleotide variant not provided [RCV002591876] ChrX:22221662 [GRCh38]
ChrX:22239779 [GRCh37]
ChrX:Xp22.11		 benign
NM_000444.6(PHEX):c.2164_2170delinsCTGGAA (p.Ser722fs) indel not provided [RCV003021903] ChrX:22247867..22247873 [GRCh38]
ChrX:22265984..22265990 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1682G>A (p.Trp561Ter) single nucleotide variant not provided [RCV002740110] ChrX:22212940 [GRCh38]
ChrX:22231057 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2066C>G (p.Ala689Gly) single nucleotide variant not provided [RCV002890051] ChrX:22227607 [GRCh38]
ChrX:22245724 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.571A>G (p.Met191Val) single nucleotide variant not specified [RCV004172887] ChrX:23000628 [GRCh38]
ChrX:23018745 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1732G>C (p.Val578Leu) single nucleotide variant not provided [RCV002626033] ChrX:22219067 [GRCh38]
ChrX:22237184 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1787dup (p.Asn596fs) duplication not provided [RCV003041428] ChrX:22221626..22221627 [GRCh38]
ChrX:22239743..22239744 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_182699.4(DDX53):c.1250T>A (p.Leu417Gln) single nucleotide variant not specified [RCV004201370] ChrX:23001307 [GRCh38]
ChrX:23019424 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.1535A>C (p.Asp512Ala) single nucleotide variant not specified [RCV004220460] ChrX:23001592 [GRCh38]
ChrX:23019709 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.96G>C (p.Trp32Cys) single nucleotide variant not specified [RCV004222992] ChrX:23000153 [GRCh38]
ChrX:23018270 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1768+9C>T single nucleotide variant not provided [RCV002710545] ChrX:22219112 [GRCh38]
ChrX:22237229 [GRCh37]
ChrX:Xp22.11		 benign
NM_182699.4(DDX53):c.1648G>A (p.Val550Ile) single nucleotide variant not specified [RCV004234080] ChrX:23001705 [GRCh38]
ChrX:23019822 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1969T>C (p.Tyr657His) single nucleotide variant not provided [RCV003084927] ChrX:22227510 [GRCh38]
ChrX:22245627 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1646-10C>T single nucleotide variant PHEX-related disorder [RCV003916535]|not provided [RCV002790497] ChrX:22212894 [GRCh38]
ChrX:22231011 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.1769-20C>T single nucleotide variant not provided [RCV002805864] ChrX:22221593 [GRCh38]
ChrX:22239710 [GRCh37]
ChrX:Xp22.11		 benign
NM_000444.6(PHEX):c.2196C>A (p.Asn732Lys) single nucleotide variant not provided [RCV002644136] ChrX:22247899 [GRCh38]
ChrX:22266016 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.2148-1G>A single nucleotide variant not provided [RCV003084928] ChrX:22247850 [GRCh38]
ChrX:22265967 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1709_1712dup (p.Tyr571Ter) duplication not provided [RCV002894492] ChrX:22219042..22219043 [GRCh38]
ChrX:22237159..22237160 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_182699.4(DDX53):c.1577T>G (p.Ile526Arg) single nucleotide variant not specified [RCV004198011] ChrX:23001634 [GRCh38]
ChrX:23019751 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2021C>A (p.Pro674Gln) single nucleotide variant not provided [RCV002645681] ChrX:22227562 [GRCh38]
ChrX:22245679 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1929T>C (p.Asn643=) single nucleotide variant not provided [RCV003044251] ChrX:22226472 [GRCh38]
ChrX:22244589 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.2084C>T (p.Ser695Phe) single nucleotide variant not provided [RCV002700752] ChrX:22245346 [GRCh38]
ChrX:22263463 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1966-20TCT[3] microsatellite not provided [RCV002601438] ChrX:22227487..22227489 [GRCh38]
ChrX:22245604..22245606 [GRCh37]
ChrX:Xp22.11		 benign
NM_000444.6(PHEX):c.1965+6C>T single nucleotide variant not provided [RCV002631453] ChrX:22226514 [GRCh38]
ChrX:22244631 [GRCh37]
ChrX:Xp22.11		 benign
NM_000444.6(PHEX):c.1746del (p.Phe582fs) deletion not provided [RCV003044804] ChrX:22219079 [GRCh38]
ChrX:22237196 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1947C>T (p.Gly649=) single nucleotide variant not provided [RCV002630106] ChrX:22226490 [GRCh38]
ChrX:22244607 [GRCh37]
ChrX:Xp22.11		 benign
NM_000444.6(PHEX):c.1966-2A>C single nucleotide variant not provided [RCV002672135] ChrX:22227505 [GRCh38]
ChrX:22245622 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_182699.4(DDX53):c.365A>C (p.Glu122Ala) single nucleotide variant not specified [RCV004092798] ChrX:23000422 [GRCh38]
ChrX:23018539 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1966-8_2006dup duplication not provided [RCV002835035] ChrX:22227498..22227499 [GRCh38]
ChrX:22245615..22245616 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2216_2225del (p.Met739fs) deletion not provided [RCV002963072] ChrX:22247919..22247928 [GRCh38]
ChrX:22266036..22266045 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1646-2del deletion not provided [RCV002898953] ChrX:22212902 [GRCh38]
ChrX:22231019 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1766dup (p.Asn589fs) duplication not provided [RCV002807135] ChrX:22219099..22219100 [GRCh38]
ChrX:22237216..22237217 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1895T>A (p.Leu632Ter) single nucleotide variant not provided [RCV002834655] ChrX:22221739 [GRCh38]
ChrX:22239856 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1931T>C (p.Ile644Thr) single nucleotide variant not provided [RCV002653920] ChrX:22226474 [GRCh38]
ChrX:22244591 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1966-2A>G single nucleotide variant not provided [RCV003093214] ChrX:22227505 [GRCh38]
ChrX:22245622 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2012dup (p.Leu672fs) duplication not provided [RCV003050196] ChrX:22227551..22227552 [GRCh38]
ChrX:22245668..22245669 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1843A>C (p.Thr615Pro) single nucleotide variant not provided [RCV003093213] ChrX:22221687 [GRCh38]
ChrX:22239804 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003134816] ChrX:22226489 [GRCh38]
ChrX:22244606 [GRCh37]
ChrX:Xp22.11		 conflicting interpretations of pathogenicity|uncertain significance
NM_182699.4(DDX53):c.1172G>T (p.Arg391Met) single nucleotide variant DDX53-related disorder [RCV003972111] ChrX:23001229 [GRCh38]
ChrX:23019346 [GRCh37]
ChrX:Xp22.11		 benign
NM_182699.4(DDX53):c.649C>T (p.Pro217Ser) single nucleotide variant not specified [RCV004254409] ChrX:23000706 [GRCh38]
ChrX:23018823 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2028_2032del (p.Thr677fs) deletion Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003159275] ChrX:22227566..22227570 [GRCh38]
ChrX:22245683..22245687 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_152577.4(CBLL2):c.828A>G (p.Ile276Met) single nucleotide variant not specified [RCV004262594] ChrX:22273819 [GRCh38]
ChrX:22291936 [GRCh37]
ChrX:Xp22.11		 likely benign
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.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_182699.4(DDX53):c.80G>A (p.Ser27Asn) single nucleotide variant not provided [RCV003434737]|not specified [RCV004296239] ChrX:23000137 [GRCh38]
ChrX:23018254 [GRCh37]
ChrX:Xp22.11		 likely benign|uncertain significance
NM_152577.4(CBLL2):c.523G>T (p.Asp175Tyr) single nucleotide variant not specified [RCV004288724] ChrX:22273514 [GRCh38]
ChrX:22291631 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1701A>C (p.Arg567=) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003236696] ChrX:22219036 [GRCh38]
ChrX:22237153 [GRCh37]
ChrX:Xp22.11		 pathogenic|likely pathogenic|benign
NM_182699.4(DDX53):c.787A>G (p.Ile263Val) single nucleotide variant not specified [RCV004289290] ChrX:23000844 [GRCh38]
ChrX:23018961 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.934C>G (p.Gln312Glu) single nucleotide variant not specified [RCV004330822] ChrX:22273925 [GRCh38]
ChrX:22292042 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.953C>T (p.Thr318Met) single nucleotide variant not specified [RCV004357933] ChrX:22273944 [GRCh38]
ChrX:22292061 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_152577.4(CBLL2):c.281C>T (p.Pro94Leu) single nucleotide variant not specified [RCV004342866] ChrX:22273272 [GRCh38]
ChrX:22291389 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1874_1877dup (p.Tyr626Ter) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003324632] ChrX:22221717..22221718 [GRCh38]
ChrX:22239834..22239835 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_182699.4(DDX53):c.1511G>C (p.Ser504Thr) single nucleotide variant not specified [RCV004305274] ChrX:23001568 [GRCh38]
ChrX:23019685 [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_182699.4(DDX53):c.1355A>G (p.Glu452Gly) single nucleotide variant not specified [RCV004321716] ChrX:23001412 [GRCh38]
ChrX:23019529 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.260G>C (p.Gly87Ala) single nucleotide variant not specified [RCV004364038] ChrX:23000317 [GRCh38]
ChrX:23018434 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.929G>A (p.Arg310His) single nucleotide variant not provided [RCV003430441]|not specified [RCV004364637] ChrX:22273920 [GRCh38]
ChrX:22292037 [GRCh37]
ChrX:Xp22.11		 likely benign|uncertain significance
NM_182699.4(DDX53):c.13G>A (p.Ala5Thr) single nucleotide variant DDX53-related disorder [RCV003929192]|not provided [RCV003430442] ChrX:23000070 [GRCh38]
ChrX:23018187 [GRCh37]
ChrX:Xp22.11		 benign|likely benign
NM_182699.4(DDX53):c.1059T>C (p.Pro353=) single nucleotide variant not provided [RCV003430445] ChrX:23001116 [GRCh38]
ChrX:23019233 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003388314] ChrX:22221652 [GRCh38]
ChrX:22239769 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_182699.4(DDX53):c.207A>C (p.Ser69=) single nucleotide variant not provided [RCV003430443] ChrX:23000264 [GRCh38]
ChrX:23018381 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_182699.4(DDX53):c.813G>A (p.Gly271=) single nucleotide variant not provided [RCV003430444] ChrX:23000870 [GRCh38]
ChrX:23018987 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_152577.4(CBLL2):c.728T>C (p.Ile243Thr) single nucleotide variant not specified [RCV004345856] ChrX:22273719 [GRCh38]
ChrX:22291836 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.217G>C (p.Asp73His) single nucleotide variant DDX53-related disorder [RCV003928997]|not specified [RCV004334449] ChrX:23000274 [GRCh38]
ChrX:23018391 [GRCh37]
ChrX:Xp22.11		 likely benign|uncertain significance
NM_000444.6(PHEX):c.2148-10C>A single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV004545910] ChrX:22247841 [GRCh38]
ChrX:22265958 [GRCh37]
ChrX:Xp22.11		 benign|uncertain significance
NM_000444.6(PHEX):c.1928dup (p.Asn643fs) duplication not provided [RCV003688432] ChrX:22226467..22226468 [GRCh38]
ChrX:22244584..22244585 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1677_1680del (p.Phe560fs) microsatellite Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003447903]|not provided [RCV004697295] ChrX:22212931..22212934 [GRCh38]
ChrX:22231048..22231051 [GRCh37]
ChrX:Xp22.11		 likely 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.1776_1778dup (p.Tyr593Ter) duplication not provided [RCV003574004] ChrX:22221618..22221619 [GRCh38]
ChrX:22239735..22239736 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1733_1735dup (p.Val578_Gly579insVal) duplication not provided [RCV003692534] ChrX:22219066..22219067 [GRCh38]
ChrX:22237183..22237184 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.259G>T (p.Gly87Trp) single nucleotide variant not provided [RCV003490676] ChrX:23000316 [GRCh38]
ChrX:23018433 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2150T>G (p.Val717Gly) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003882746] ChrX:22247853 [GRCh38]
ChrX:22265970 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_000444.6(PHEX):c.2148-8T>G single nucleotide variant not provided [RCV003830002] ChrX:22247843 [GRCh38]
ChrX:22265960 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.2173_2174insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTTCCAATTAGTAACTTTG (p.Phe724_Glu725insValPhePhePhePhePhePheXaaXaaXaaXaaValPheCysValAlaHisAlaGlySerCysArgProGluLeuPheLeuPheGlyHisLeuGlySerSerLeuProIleSerAsnPhe) insertion not provided [RCV003547710] ChrX:22247861..22247862 [GRCh38]
ChrX:22265978..22265979 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1924G>T (p.Glu642Ter) single nucleotide variant not provided [RCV003691694] ChrX:22226467 [GRCh38]
ChrX:22244584 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1814C>T (p.Thr605Ile) single nucleotide variant not provided [RCV003851447] ChrX:22221658 [GRCh38]
ChrX:22239775 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2098G>A (p.Ala700Thr) single nucleotide variant not provided [RCV003663650] ChrX:22245360 [GRCh38]
ChrX:22263477 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2059_2060dup (p.Ser687fs) duplication not provided [RCV003579295] ChrX:22227598..22227599 [GRCh38]
ChrX:22245715..22245716 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2238C>A (p.Cys746Ter) single nucleotide variant not provided [RCV003560220] ChrX:22247941 [GRCh38]
ChrX:22266058 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2158G>A (p.Ala720Thr) single nucleotide variant not provided [RCV003560219] ChrX:22247861 [GRCh38]
ChrX:22265978 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2147+14T>C single nucleotide variant not provided [RCV003856160] ChrX:22245423 [GRCh38]
ChrX:22263540 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.2039_2042dup (p.Asn681fs) duplication not provided [RCV003724249] ChrX:22227578..22227579 [GRCh38]
ChrX:22245695..22245696 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2002_2006dup (p.Glu669fs) duplication not provided [RCV003560218] ChrX:22227540..22227541 [GRCh38]
ChrX:22245657..22245658 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1942G>T (p.Gly648Ter) single nucleotide variant not provided [RCV003560217] ChrX:22226485 [GRCh38]
ChrX:22244602 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2070+10C>T single nucleotide variant not provided [RCV003725229] ChrX:22227621 [GRCh38]
ChrX:22245738 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.1865dup (p.Tyr622Ter) duplication not provided [RCV003558081] ChrX:22221708..22221709 [GRCh38]
ChrX:22239825..22239826 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1822_1823del (p.Glu608fs) deletion not provided [RCV003704922] ChrX:22221665..22221666 [GRCh38]
ChrX:22239782..22239783 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2064T>C (p.Tyr688=) single nucleotide variant not provided [RCV003705358] ChrX:22227605 [GRCh38]
ChrX:22245722 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.1798G>C (p.Asp600His) single nucleotide variant not provided [RCV003565702] ChrX:22221642 [GRCh38]
ChrX:22239759 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2025_2034dup (p.Thr679fs) duplication not provided [RCV003706749] ChrX:22227565..22227566 [GRCh38]
ChrX:22245682..22245683 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1675_1676del (p.Phe559fs) deletion not provided [RCV003680111] ChrX:22212932..22212933 [GRCh38]
ChrX:22231049..22231050 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1701-17A>G single nucleotide variant not provided [RCV003863130] ChrX:22219019 [GRCh38]
ChrX:22237136 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.1974del (p.Lys659fs) deletion not provided [RCV003705156] ChrX:22227514 [GRCh38]
ChrX:22245631 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1981A>G (p.Ile661Val) single nucleotide variant not provided [RCV003680033] ChrX:22227522 [GRCh38]
ChrX:22245639 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2172del (p.Phe724fs) deletion not provided [RCV003681157] ChrX:22247873 [GRCh38]
ChrX:22265990 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2181_2191del (p.Phe727_Gln728insTer) deletion not provided [RCV003677387] ChrX:22247882..22247892 [GRCh38]
ChrX:22265999..22266009 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2214G>T (p.Thr738=) single nucleotide variant not provided [RCV003568189] ChrX:22247917 [GRCh38]
ChrX:22266034 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1863_1899+364del deletion not provided [RCV003563230] ChrX:22221702..22222102 [GRCh38]
ChrX:22239819..22240219 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_000444.6(PHEX):c.1900-6_1900-3dup duplication PHEX-related disorder [RCV003966622]|not provided [RCV003728575] ChrX:22226436..22226437 [GRCh38]
ChrX:22244553..22244554 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.1965+3del deletion not provided [RCV003542137] ChrX:22226511 [GRCh38]
ChrX:22244628 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.564G>A (p.Met188Ile) single nucleotide variant not specified [RCV004368026] ChrX:23000621 [GRCh38]
ChrX:23018738 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2110del (p.Gln704fs) deletion not provided [RCV003721002] ChrX:22245372 [GRCh38]
ChrX:22263489 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.2147+12A>C single nucleotide variant not provided [RCV003684069] ChrX:22245421 [GRCh38]
ChrX:22263538 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.1717G>A (p.Ala573Thr) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV003994617] ChrX:22219052 [GRCh38]
ChrX:22237169 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1767_1768+3del deletion not provided [RCV003682914] ChrX:22219101..22219105 [GRCh38]
ChrX:22237218..22237222 [GRCh37]
ChrX:Xp22.11		 likely pathogenic
NM_182699.4(DDX53):c.1392G>A (p.Met464Ile) single nucleotide variant not specified [RCV004368023] ChrX:23001449 [GRCh38]
ChrX:23019566 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.1604A>G (p.Asp535Gly) single nucleotide variant not specified [RCV004368024] ChrX:23001661 [GRCh38]
ChrX:23019778 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.287T>C (p.Phe96Ser) single nucleotide variant not specified [RCV004368025] ChrX:23000344 [GRCh38]
ChrX:23018461 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.998G>A (p.Arg333Lys) single nucleotide variant not specified [RCV004368027] ChrX:23001055 [GRCh38]
ChrX:23019172 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1768+10G>A single nucleotide variant not provided [RCV003557034] ChrX:22219113 [GRCh38]
ChrX:22237230 [GRCh37]
ChrX:Xp22.11		 benign
NM_182699.4(DDX53):c.1245T>C (p.Arg415=) single nucleotide variant DDX53-related disorder [RCV003951874] ChrX:23001302 [GRCh38]
ChrX:23019419 [GRCh37]
ChrX:Xp22.11		 benign
NM_182699.4(DDX53):c.185T>C (p.Val62Ala) single nucleotide variant DDX53-related disorder [RCV003981256] ChrX:23000242 [GRCh38]
ChrX:23018359 [GRCh37]
ChrX:Xp22.11		 benign
NM_182699.4(DDX53):c.1044C>T (p.Ile348=) single nucleotide variant DDX53-related disorder [RCV003909647] ChrX:23001101 [GRCh38]
ChrX:23019218 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_000444.6(PHEX):c.2045_2048dup (p.Phe684fs) duplication not provided [RCV003685667] ChrX:22227585..22227586 [GRCh38]
ChrX:22245702..22245703 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1815T>G (p.Thr605=) single nucleotide variant not provided [RCV003718965] ChrX:22221659 [GRCh38]
ChrX:22239776 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_182699.4(DDX53):c.640C>T (p.Arg214Cys) single nucleotide variant DDX53-related disorder [RCV003956716] ChrX:23000697 [GRCh38]
ChrX:23018814 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_182699.4(DDX53):c.1143G>T (p.Met381Ile) single nucleotide variant DDX53-related disorder [RCV003981322] ChrX:23001200 [GRCh38]
ChrX:23019317 [GRCh37]
ChrX:Xp22.11		 benign
NM_000444.6(PHEX):c.1816G>T (p.Glu606Ter) single nucleotide variant not provided [RCV003711338] ChrX:22221660 [GRCh38]
ChrX:22239777 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_000444.6(PHEX):c.1908G>C (p.Gly636=) single nucleotide variant not provided [RCV003556577] ChrX:22226451 [GRCh38]
ChrX:22244568 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_182699.4(DDX53):c.1074C>T (p.Asp358=) single nucleotide variant DDX53-related disorder [RCV003979577] ChrX:23001131 [GRCh38]
ChrX:23019248 [GRCh37]
ChrX:Xp22.11		 benign
NM_152577.4(CBLL2):c.284G>A (p.Arg95His) single nucleotide variant not specified [RCV004430317] ChrX:22273275 [GRCh38]
ChrX:22291392 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.322C>G (p.Arg108Gly) single nucleotide variant not specified [RCV004430318] ChrX:22273313 [GRCh38]
ChrX:22291430 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.587T>C (p.Met196Thr) single nucleotide variant not specified [RCV004430321] ChrX:22273578 [GRCh38]
ChrX:22291695 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.638C>A (p.Pro213Gln) single nucleotide variant not specified [RCV004430322] ChrX:22273629 [GRCh38]
ChrX:22291746 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.875T>G (p.Val292Gly) single nucleotide variant not specified [RCV004430324] ChrX:22273866 [GRCh38]
ChrX:22291983 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.1202C>T (p.Pro401Leu) single nucleotide variant not specified [RCV004430315] ChrX:22274193 [GRCh38]
ChrX:22292310 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.577G>C (p.Val193Leu) single nucleotide variant not specified [RCV004430320] ChrX:22273568 [GRCh38]
ChrX:22291685 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.1271G>C (p.Arg424Pro) single nucleotide variant not specified [RCV004430316] ChrX:22274262 [GRCh38]
ChrX:22292379 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_152577.4(CBLL2):c.349G>C (p.Val117Leu) single nucleotide variant not specified [RCV004430319] ChrX:22273340 [GRCh38]
ChrX:22291457 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.809C>T (p.Ser270Leu) single nucleotide variant not specified [RCV004430323] ChrX:22273800 [GRCh38]
ChrX:22291917 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2092C>T (p.Pro698Ser) single nucleotide variant Inborn genetic diseases [RCV004500988] ChrX:22245354 [GRCh38]
ChrX:22263471 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1790dup (p.Asn598fs) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV004595023] ChrX:22221632..22221633 [GRCh38]
ChrX:22239749..22239750 [GRCh37]
ChrX:Xp22.11		 pathogenic
NM_182699.4(DDX53):c.1869A>C (p.Arg623Ser) single nucleotide variant not provided [RCV004585612] ChrX:23001926 [GRCh38]
ChrX:23020043 [GRCh37]
ChrX:Xp22.11		 likely benign
NM_152577.4(CBLL2):c.632C>T (p.Pro211Leu) single nucleotide variant not specified [RCV004609790] ChrX:22273623 [GRCh38]
ChrX:22291740 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.423T>A (p.Asn141Lys) single nucleotide variant not specified [RCV004611708] ChrX:23000480 [GRCh38]
ChrX:23018597 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.74G>T (p.Arg25Met) single nucleotide variant not specified [RCV004611709] ChrX:23000131 [GRCh38]
ChrX:23018248 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.1376A>G (p.Glu459Gly) single nucleotide variant not specified [RCV004611711] ChrX:23001433 [GRCh38]
ChrX:23019550 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_182699.4(DDX53):c.1702G>A (p.Val568Ile) single nucleotide variant not specified [RCV004611707] ChrX:23001759 [GRCh38]
ChrX:23019876 [GRCh37]
ChrX:Xp22.11		 likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_152577.4(CBLL2):c.731A>G (p.Gln244Arg) single nucleotide variant not specified [RCV004602675] ChrX:22273722 [GRCh38]
ChrX:22291839 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.343A>T (p.Ser115Cys) single nucleotide variant not specified [RCV004602676] ChrX:22273334 [GRCh38]
ChrX:22291451 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.2090G>A (p.Arg697Lys) single nucleotide variant Inborn genetic diseases [RCV004655889] ChrX:22245352 [GRCh38]
ChrX:22263469 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.848C>T (p.Ala283Val) single nucleotide variant not specified [RCV004602674] ChrX:22273839 [GRCh38]
ChrX:22291956 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_152577.4(CBLL2):c.1004T>G (p.Met335Arg) single nucleotide variant not specified [RCV004602673] ChrX:22273995 [GRCh38]
ChrX:22292112 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1808G>C (p.Trp603Ser) single nucleotide variant Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV004598534] ChrX:22221652 [GRCh38]
ChrX:22239769 [GRCh37]
ChrX:Xp22.11		 uncertain significance
NM_000444.6(PHEX):c.1985_1988dup (p.Asp663delinsGluTer) duplication Familial X-linked hypophosphatemic vitamin D refractory rickets [RCV004796937] ChrX:22227524..22227525 [GRCh38]
ChrX:22245641..22245642 [GRCh37]		 pathogenic
NM_000444.6(PHEX):c.1963A>C (p.Arg655=) single nucleotide variant not specified [RCV004703156] ChrX:22226506 [GRCh38]
ChrX:22244623 [GRCh37]
ChrX:Xp22.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:157
Count of miRNA genes:152
Interacting mature miRNAs:153
Transcripts:ENST00000455399, ENST00000608254
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407198182GWAS847158_Hhearing threshold measurement, hearing measurement QTL GWAS847158 (human)1e-08hearing threshold measurement, hearing measurementhearing physiological measurement (CMO:0002204)X2281855222818553Human
406956389GWAS605365_HHETE measurement QTL GWAS605365 (human)1e-08HETE measurementX2293232922932330Human
407053701GWAS702677_H3-hydroxy-1-methylpropylmercapturic acid measurement QTL GWAS702677 (human)1e-093-hydroxy-1-methylpropylmercapturic acid measurementX2289068022890681Human
407239042GWAS888018_HUveal Melanoma QTL GWAS888018 (human)0.000005Uveal MelanomaX2255638022556381Human
407295468GWAS944444_Hvaginal microbiome measurement QTL GWAS944444 (human)0.000004vaginal microbiome measurementX2270939522709396Human
406934605GWAS583581_Hresponse to radiation, prostate carcinoma, erectile dysfunction QTL GWAS583581 (human)0.000003response to radiation, prostate carcinoma, erectile dysfunctionX2287396022873961Human
407163401GWAS812377_HCleft palate QTL GWAS812377 (human)0.000005Cleft palateX2247402722474028Human
407185365GWAS834341_Hcognitive function measurement QTL GWAS834341 (human)0.000009cognitive function measurementX2255548822555489Human
407344535GWAS993511_Hbody mass index QTL GWAS993511 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)X2327817423278175Human
407139445GWAS788421_H3-hydroxy-1-methylpropylmercapturic acid measurement QTL GWAS788421 (human)0.00000023-hydroxy-1-methylpropylmercapturic acid measurementX2241738922417390Human
407373977GWAS1022953_HAbnormality of refraction QTL GWAS1022953 (human)1e-08Abnormality of refractionX2319917823199179Human
406982995GWAS631971_Hovarian carcinoma QTL GWAS631971 (human)0.000007ovarian carcinomaX2327680323276804Human
407131312GWAS780288_Hhair colour measurement QTL GWAS780288 (human)0.0000005hair colour measurementcoat/hair color measurement (CMO:0001808)X2326778323267784Human
407161501GWAS810477_Haggressive behavior QTL GWAS810477 (human)0.0000003aggressive behaviorX2222160322221604Human
406907035GWAS556011_Htrait in response to apixaban QTL GWAS556011 (human)7e-09trait in response to apixabanX2287693722876938Human
407299258GWAS948234_Hovarian carcinoma QTL GWAS948234 (human)0.000008ovarian carcinomaX2315149923151500Human
407353944GWAS1002920_Heducational attainment QTL GWAS1002920 (human)1e-11educational attainmentX2315560223155603Human


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
182 1233 1102 880 2807 880 1029 1 139 301 65 447 2538 1846 13 2593 430 1028 768 75

Sequence

Nucleotide Sequences
RefSeq Transcripts NR_073010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC004470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC135368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX115199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX293560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX294437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA355362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA390816 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459026 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MH265159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA989438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y10196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000424650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX22,162,733 - 22,172,983 (-)Ensembl
Ensembl Acc Id: ENST00000669979
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX22,191,895 - 22,235,358 (-)Ensembl
Ensembl Acc Id: ENST00000687119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX22,389,315 - 23,064,119 (-)Ensembl
Ensembl Acc Id: ENST00000687248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX22,227,405 - 23,293,174 (-)Ensembl
Ensembl Acc Id: ENST00000715857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX22,162,728 - 22,389,721 (-)Ensembl
Ensembl Acc Id: ENST00000796453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX22,740,817 - 22,743,338 (-)Ensembl
Ensembl Acc Id: ENST00000799269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX23,269,636 - 23,333,685 (-)Ensembl
Ensembl Acc Id: ENST00000799270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX23,300,345 - 23,333,541 (-)Ensembl
Ensembl Acc Id: ENST00000819916
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX22,888,093 - 22,951,529 (-)Ensembl
Ensembl Acc Id: ENST00000825156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX22,162,728 - 22,389,720 (-)Ensembl
Ensembl Acc Id: ENST00000825157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX22,189,253 - 22,389,720 (-)Ensembl
Ensembl Acc Id: ENST00000825158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX22,253,939 - 22,320,683 (-)Ensembl
Ensembl Acc Id: ENST00000825159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX22,258,049 - 22,320,652 (-)Ensembl
RefSeq Acc Id: NR_073010
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X22,193,005 - 23,293,146 (-)NCBI
HuRefX20,017,934 - 21,052,530 (-)NCBI
CHM1_1X22,241,831 - 23,342,369 (-)NCBI
T2T-CHM13v2.0X21,776,342 - 22,876,714 (-)NCBI
Sequence:
Promoters
RGD ID:15097425
Promoter ID:EPDNEWNC_H2267
Type:initiation region
Name:PTCHD1-AS_1
Description:PTCHD1 antisense RNA (head to head) [Source:HGNCSymbol;Acc:HGNC:37703]
SO ACC ID:SO:0000170
Source:EPDNEWNC (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X23,293,169 - 23,293,229EPDNEWNC

Additional Information

Database Acc Id Source(s)
COSMIC PTCHD1-AS COSMIC
Ensembl Genes ENSG00000233067 Ensembl
GTEx ENSG00000233067 GTEx
HGNC ID HGNC:37703 ENTREZGENE
Human Proteome Map PTCHD1-AS Human Proteome Map
NCBI Gene PTCHD1-AS ENTREZGENE
RNAcentral URS0000A76DB3 RNACentral