Full data view for gene PHEX

Information The variants shown are described using the NM_000444.4 transcript reference sequence.

3264 entries on 33 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. _1 - r.(?) p.(?) Unknown - VUS g.22050695A>G g.22032577A>G - - PHEX_000082 - PubMed: Dixon 1998 - - Germline - - - - - DNA SSCA, SEQ - - XLHRD - PubMed: Dixon 1998 - - - India - - - - - 1 Johan den Dunnen
+/. 9i_22_ c.(1079+1_1080-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22117270_22129584)_(22269427_?)del g.(22099152_22111466)_(22251310_?)del del ex10-22 - PHEX_000518 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - hypophosphatemia - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
?/. 1i_22_ c.(118+1_119-1)_(*3357_?)dup r.? p.? Unknown - VUS g.(22051242_22056586)_(22269427_?)dup g.(22033124_22038468)_(22251310_?)dup dup ex2-22 - PHEX_000724 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 1/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 1i_3i c.(118+1_119-1)_(349+1_350-1){0} r.? p.? Unknown - pathogenic g.(22051242_22056586)_(22065330_22094505)del g.(22033124_22038468)_(22047212_22076387)del del ex2-3 - PHEX_000686 - PubMed: Capelli 2015 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - XLHRD Pat1 PubMed: Capelli 2015 - M - Italy - - - - - 1 Johan den Dunnen
?/. 1i_22_ c.(118+1_119-1)_*3357{2} r.? p.? Unknown ACMG VUS g.(22051242_22056586)_(22269427_?)dup g.(22033124_22038468)_(22251310_?)dup dup ex2-22 - PHEX_000724 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - hypophosphatemia - PubMed: Sarafrazi 2022 fewer then 3 cases - - - white - - - - 1 Johan den Dunnen
?/. 1i_22_ c.(118+1_119-1)_*3357{2} r.? p.? Unknown ACMG VUS g.(22051242_22056586)_(22269427_?)dup g.(22033124_22038468)_(22251310_?)dup - - PHEX_000724 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12i_22_ c.(1404+1_1405-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22151742_22186428)_(22269427_?)del g.(22133625_22168311)_(22251310_?)del del ex13-22 - PHEX_000681 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 4/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 12i_22_ c.(1404+1_1405-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22151742_22186428)_(22269427_?)del g.(22133625_22168311)_(22251310_?)del del ex13-22 - PHEX_000681 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 4/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 12i_22_ c.(1404+1_1405-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22151742_22186428)_(22269427_?)del g.(22133625_22168311)_(22251310_?)del del ex13-22 - PHEX_000681 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 4/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 12i_22_ c.(1404+1_1405-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22151742_22186428)_(22269427_?)del g.(22133625_22168311)_(22251310_?)del del ex13-22 - PHEX_000681 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 4/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.? Unknown - pathogenic g.? - del ex13-22 - USP9X_000005 Del (>80 Kb) PubMed: Morey 2011 - - Germline - - - - - DNA SEQ - - XLHRD Pat16 PubMed: Morey 2011 - F - Spain - - - - - 1 Johan den Dunnen
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.? Unknown - pathogenic g.(22151742_22186428)_(22269427_?)del g.(22133625_22168311)_(22251310_?)del del ex 13-22 - PHEX_000696 - PubMed: Park 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHRD Pat48 PubMed: Park 2021 - M - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22151742_22186428)_(22269427_?)del g.(22133625_22168311)_(22251310_?)del del ex13-22 - USP9X_000005 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - hypophosphatemia - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.? Unknown ACMG pathogenic g.(22151742_22186428)_(22269427_?)del g.(22133625_22168311)_(22251310_?)del - - PHEX_000681 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12i_22_ c.(1404+1_1405-1)_*3357{2} r.? p.? Unknown - pathogenic (dominant) g.(22151742_22186428)_(22269427_?)dup g.(22133625_22168311)_(22251310_?)dup dup ex13-22 - PHEX_000519 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - hypophosphatemia - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 14i_22_ c.(1586+1_1587-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22196494_22208560)_(22269427_?)del g.(22178377_22190443)_(22251310_?)del del ex15-22 - PHEX_000520 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - hypophosphatemia - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22208620_22231020)_(22269427_?)del g.(22190503_22212903)_(22251310_?)del del ex16-22 - PHEX_000697 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 3/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22208620_22231020)_(22269427_?)del g.(22190503_22212903)_(22251310_?)del del ex16-22 - PHEX_000697 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 3/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22208620_22231020)_(22269427_?)del g.(22190503_22212903)_(22251310_?)del del ex16-22 - PHEX_000697 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 3/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? Unknown - pathogenic g.? - del ex16-22 - USP9X_000005 Del (>34 Kb) PubMed: Morey 2011 - - Germline - - - - - DNA SEQ - - XLHRD Pat24 PubMed: Morey 2011 - M - Spain - - - - - 1 Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? Unknown - pathogenic g.? - c.1646-?_2453+?del - USP9X_000005 - PubMed: Beck-Nielsen 2012 - - Germline/De novo (untested) - - - - - DNA MLPA - - XLHRD Pat20 PubMed: Beck-Nielsen 2012 - F - Denmark - - - - - 1 Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? Unknown - pathogenic g.(22208620_22231020)_(22269427_?)del g.(22190503_22212903)_(22251310_?)del c.2327_?del, del ex16-.. - PHEX_000697 - PubMed: Rodriguez-Rubio 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHRD FamXIIPat1 PubMed: Rodriguez-Rubio 2021 index F - Spain - - - - - 1 Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? Unknown - pathogenic g.(22208620_22231020)_(22269427_?)del g.(22190503_22212903)_(22251310_?)del del ex16-22 - PHEX_000697 - PubMed: Capelli 2015 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - XLHRD Pat11 PubMed: Capelli 2015 - F - Italy - - - - - 1 Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22208620_22231020)_(22269427_?)del g.(22190503_22212903)_(22251310_?)del c.2211_?del - USP9X_000005 - PubMed: Hernandez-Frias 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - hypophosphatemia FamXVIPat1 PubMed: Hernandez-Frias 2019 - F - Spain - - - - - 1 Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? Unknown ACMG pathogenic g.(22208620_22231020)_(22269427_?)del g.(22190503_22212903)_(22251310_?)del - - USP9X_000005 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? Unknown - VUS g.(22208620_22231020)_(22269427_?)del g.(22190503_22212903)_(22251310_?)del - - USP9X_000005 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16i_22_ c.(1700+1_1701-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del del ex17-22 - PHEX_000521 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 1/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? Unknown - pathogenic g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del del ex17-22 - PHEX_000700 - PubMed: Zheng 2020 - - De novo - - - - - DNA SEQ - - XLHRD HR26 PubMed: Zheng 2020 patient M - China - - - - - 1 Johan den Dunnen
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del del ex17-22 - PHEX_000521 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - hypophosphatemia - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del del ex17-22 - PHEX_000521 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - hypophosphatemia - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+?/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? Unknown - likely pathogenic (dominant) g.(22212959_22219035)_(2248361_?)del g.(22231076_22237152)_(22251310_?)del del ex 17-22 - PHEX_000521 - PubMed: Obara-Moszynska 2020 - - Germline/De novo (untested) - - - - - DNA SEQ - - hypophosphatemia Pat3 PubMed: Obara-Moszynska 2020 - M - Poland - - - - - 1 Johan den Dunnen
+/? 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? Unknown - pathogenic g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del - - PHEX_000521 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17i_22_ c.(1768+1_1769-1)_*3357{0) r.? p.? Maternal (confirmed) - pathogenic g.(22237221_22239729)_(22269427_?)del g.(22219104_22221612)_(22251310_?)del del ex18-22 - PHEX_000701 - PubMed: Capelli 2015 - - Germline - - - - - DNA MLPA, SEQ - - XLHRD Pat17 PubMed: Capelli 2015 - F - Italy - - - - - 1 Johan den Dunnen
?/. 18i_22_ c.(1899+1_1900-1)_*3357{0} r.? p.? Unknown - VUS g.(22239861_22244559)_(22269427_?)del g.(22221744_22226442)_(22251310_?)del - - PHEX_000705 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? Maternal (confirmed) - pathogenic g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?-2664dup2949-? - USP9X_000005 - PubMed: Rodriguez-Rubio 2021 - - Germline - - - - - DNA SEQ - - XLHRD FamVIIPat1 PubMed: Rodriguez-Rubio 2021 index M - Spain - - - - - 4 Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? Maternal (confirmed) - pathogenic g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?-2664dup2949-? - USP9X_000005 - PubMed: Rodriguez-Rubio 2021 - - Germline - - - - - DNA SEQ - - XLHRD FamVIIPat2 PubMed: Rodriguez-Rubio 2021 brother M - Spain - - - - - 1 Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? Paternal (confirmed) - pathogenic g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?-2664dup2949-? - USP9X_000005 - PubMed: Rodriguez-Rubio 2021 - - Germline - - - - - DNA SEQ - - XLHRD FamVIIPat3 PubMed: Rodriguez-Rubio 2021 daughter F - Spain - - - - - 1 Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? Paternal (confirmed) - pathogenic g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?-2664dup2949-? - USP9X_000005 - PubMed: Rodriguez-Rubio 2021 - - Germline - - - - - DNA SEQ - - XLHRD FamVIIPat4 PubMed: Rodriguez-Rubio 2021 daughter F - Spain - - - - - 1 Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? Parent #1 - pathogenic (dominant) g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?−2548dup2833-? - USP9X_000005 - PubMed: Hernandez-Frias 2019 - - Germline - - - - - DNA SEQ - - hypophosphatemia FamXVIIIPat1 PubMed: Hernandez-Frias 2019 2-generation family, 2 affected F - Spain - - - - - 2 Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? Parent #1 - pathogenic (dominant) g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?−2548dup2833-? - USP9X_000005 - PubMed: Hernandez-Frias 2019 - - Germline - - - - - DNA SEQ - - hypophosphatemia FamXVIIIPat2 PubMed: Hernandez-Frias 2019 Pat2 F - Spain - - - - - 1 Johan den Dunnen
?/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? Unknown - VUS g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup - - USP9X_000005 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 19i_22_ c.(1965+1_1966-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22244626_22245623)_(22269427_?)del g.(22226509_22227506)_(22251310_?)del c.2532_?del - PHEX_000516 - PubMed: Hernandez-Frias 2019 - - Germline/De novo (untested) - - - - - DNA SEQ - - hypophosphatemia FamVIPat1 PubMed: Hernandez-Frias 2019 - M - Spain - - - - - 1 Johan den Dunnen
?/. 19i_22_ c.(1965+1_1966-1)_*3357{0} r.? p.? Unknown - VUS g.(22244626_22245623)_(22269427_?)del g.(22226509_22227506)_(22251310_?)del - - PHEX_000702 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 20i_22_ c.(2070+1_2071-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 6/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 6/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 6/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 6/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 6/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 6/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? Unknown - pathogenic g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000703 - PubMed: Clausmeyer 2009 - - Germline/De novo (untested) - - - - - DNA MLPA, SEQ - - XLHRD Pat6 PubMed: Clausmeyer 2009 patient F - Germany - - - - - 1 Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - hypophosphatemia - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - hypophosphatemia - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - hypophosphatemia - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - hypophosphatemia - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? Unknown ACMG pathogenic g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - hypophosphatemia - PubMed: Sarafrazi 2022 6-10 cases - - - white - - - - 6 Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? Unknown ACMG pathogenic g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del - - PHEX_000522 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
?/. 20i_22_ c.(2070+1_2071-1)_*3357{2} r.? p.? Unknown ACMG VUS g.(22245729_22263449)_(22269427_?)dup g.(22227612_22245332)_(22251310_?)dup dup ex21-22 - PHEX_000995 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - hypophosphatemia - PubMed: Sarafrazi 2022 fewer then 3 cases - - - Hispanic - - - - 1 Johan den Dunnen
?/. 20i_22_ c.(2070+1_2071-1)_*3357{2} r.? p.? Unknown ACMG VUS g.(22245729_22263449)_(22269427_?)dup g.(22227612_22245332)_(22251310_?)dup - - PHEX_000995 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 21i_22_ c.(2147+1_2148-1)_*3357{0} r.? p.? Maternal (confirmed) - pathogenic g.(22263527_22265967)_(22269427_?)del g.(22245410_22247850)_(22251310_?)del del ex22 - PHEX_000704 >1.5 kb deletion PubMed: Clausmeyer 2009 - - Germline - - - - - DNA MLPA, SEQ - - XLHRD Pat5 PubMed: Clausmeyer 2009 3-generation family, 4 affected (2F, 2M) F - Germany - - - - - 4 Johan den Dunnen
+/. 21i_22_ c.(2147+1_2148-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22263527_22265967)_(22269427_?)del g.(22245410_22247850)_(22251310_?)del del ex22 - PHEX_000523 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - hypophosphatemia - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 21i_22i c.(2147+1_2148-1)_*3357{0} r.? p.? Unknown ACMG pathogenic g.(22263527_22265967)_(22269427_?)del g.(22245410_22247850)_(22251310_?)del del ex22 - PHEX_000523 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - hypophosphatemia - PubMed: Sarafrazi 2022 fewer then 3 cases - - - - - - - - 1 Johan den Dunnen
+/. 21i_22_ c.(2147+1_2148-1)_*3357{0} r.? p.? Unknown ACMG pathogenic g.(22263527_22265967)_(22269427_?)del g.(22245410_22247850)_(22251310_?)del - - PHEX_000523 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_22_ c.(349+1_350-1)_(*3357_?)del r.? p.? Unknown - pathogenic g.(22065330_22094505)_(22269427_?)del g.(22047212_22076387)_(22251310_?)del del ex4-22 - PHEX_000517 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 1/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+/. 3i_22_ c.(349+1_350-1)_*3357{0} r.? p.? Unknown - pathogenic (dominant) g.(22065330_22094505)_(22269427_?)del g.(22047212_22076387)_(22251310_?)del del ex4-22 - PHEX_000517 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - hypophosphatemia - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 3i_22_ c.(349+1_350-1)_*3357{0} r.? p.? Unknown ACMG pathogenic g.(22065330_22094505)_(22269427_?)del g.(22047212_22076387)_(22251310_?)del del ex4-22 - PHEX_000517 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - hypophosphatemia - PubMed: Sarafrazi 2022 fewer then 3 cases - - - - - - - - 1 Johan den Dunnen
+/. 3i_22_ c.(349+1_350-1)_*3357{0} r.? p.? Unknown ACMG pathogenic g.(22065330_22094505)_(22269427_?)del g.(22047212_22076387)_(22251310_?)del - - PHEX_000517 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8i_22_ c.(933+1_934-1)_*3357{0} r.? p.? Unknown ACMG pathogenic g.(22115157_22117123)_(22269427_?)del g.(22097039_22099005)_(22251310_?)del del ex9-22 - PHEX_000828 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - hypophosphatemia - PubMed: Sarafrazi 2022 fewer then 3 cases - - - - - - - - 1 Johan den Dunnen
+/. 8i_22_ c.(933+1_934-1)_*3357{0} r.? p.? Unknown ACMG pathogenic g.(22115157_22117123)_(22269427_?)del g.(22097039_22099005)_(22251310_?)del - - PHEX_000828 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? Unknown - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 classification variant specified in paper PubMed: Rush 2022 - - Germline/De novo (untested) - 65/831 cases - - - DNA SEQ - - hypophosphatemia - PubMed: Rush 2022 analysis 831 unrelated hypophosphatemia cases - - United States - - - - - 1 Johan den Dunnen
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