Full data view for gene PHEX

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

2616 entries on 27 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 - - XLHR - 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 - - HR - PubMed: Zhang 2019 - - - China - - - - - 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 - - XLHR 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 - - HR - 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{0} r.? p.? Unknown - pathogenic g.? - del ex13-22 - USP9X_000005 Del (>80 Kb) PubMed: Morey 2011 - - Germline - - - - - DNA SEQ - - XLHR 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 - - XLHR 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 - - HR - 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 - - HR - 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 - - HR - PubMed: Zhang 2019 - - - China - - - - - 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 - - XLHR 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 - - XLHR 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 - - XLHR 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 - - XLHR 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 - - HR 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{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 - - XLHR 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 - - HR - 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 - - HR - 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 - - HR 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 - - XLHR 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 - - XLHR 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 - - XLHR 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 - - XLHR 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 - - XLHR 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 - - HR 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 - - HR 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 - - HR 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{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 - - XLHR 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 - - HR - 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 - - HR - 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 - - HR - 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 - - HR - 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 - - HR - 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 - - HR - 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 - - XLHR 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 - - HR - 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 - - HR - 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{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 - - HR - 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 - - HR - 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 - - HR - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_9i c.-681_(1079+1_1080-1){0} r.0? p.0? Parent #1 - pathogenic g.(?_22050443)_(22117270_22129584)del g.(?_22032325)_(22099152_22111466)del del ex1-9 - PHEX_000684 >67 kb deletion PubMed: Clausmeyer 2009 - - Germline - - - - - DNA MLPA, SEQ - - XLHR Pat7 PubMed: Clausmeyer 2009 family F - Germany - - - - - 1 Johan den Dunnen
+?/. _1_9i c.-681_(1079+1_1080-1){0} r.? p.0? Unknown - likely pathogenic g.(?_22050443)_(22117270_22129584)del g.(?_22032325)_(22099152_22111466)del - - PHEX_000684 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_10i c.-681_(1173+1_1174-1){0} r.0? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22129679_22132575)del g.(?_22032325)_(22111561_22114457)del del ex1-10 - PHEX_000708 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR - PubMed: Sarafrazi 2022 fewer then 3 cases - - - - - - - - 1 Johan den Dunnen
+/. _1_10i c.-681_(1173+1_1174-1){0} r.? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22129679_22132575)del g.(?_22032325)_(22111561_22114457)del - - PHEX_000708 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_1i c.-681_(118+1_119-1){0} r.0? p.0? Unknown - pathogenic (dominant) g.(?_22050443)_(22051242_22056586)del g.(?_22032325)_(22033124_22038468)del del ex1 - PHEX_000682 - PubMed: Zivicnjak 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR Pat07-08 PubMed: Zivicnjak 2011 - F - Germany - - - - - 1 Johan den Dunnen
+/. _1_1i c.-681_(118+1_119-1){0} r.? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22051242_22056586)del g.(?_22032325)_(22033124_22038468)del - - PHEX_000682 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_14i c.-681_(1586+1_1587-1){0} r.0? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22196494_22208560)del g.(?_22032325)_(22178377_22190443)del del ex1-14 - PHEX_000709 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR - PubMed: Sarafrazi 2022 fewer then 3 cases - - - white - - - - 1 Johan den Dunnen
+/. _1_14i c.-681_(1586+1_1587-1){0} r.? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22196494_22208560)del g.(?_22032325)_(22178377_22190443)del - - PHEX_000709 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_15i c.-681_(1645+1_1646-1){0} r.0? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22208620_22231020)del g.(?_22032325)_(22190503_22212903)del del ex1-15 - PHEX_000710 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR - PubMed: Sarafrazi 2022 fewer then 3 cases - - - - - - - - 1 Johan den Dunnen
+/. _1_15i c.-681_(1645+1_1646-1){0} r.? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22208620_22231020)del g.(?_22032325)_(22190503_22212903)del - - PHEX_000710 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_2i c.-681_(187+1_188-1){0} r.0? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22056656_22065167)del g.(?_22032325)_(22038538_22047049)del del ex1-2 - PHEX_000706 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR - PubMed: Sarafrazi 2022 3-5 cases - - - - - - - - 3 Johan den Dunnen
+/. _1_2i c.-681_(187+1_188-1){0} r.? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22056656_22065167)del g.(?_22032325)_(22038538_22047049)del - - PHEX_000706 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0? Unknown - pathogenic g.? - del ex1-3 - USP9X_000005 - PubMed: Holm 2001 - - Germline - - - - - DNA SSCA, SEQ - - XLHR 112-01 PubMed: Holm 2001 family, 3 affected F - United States - - - - treatment started within 1y of diagnosis 3 Johan den Dunnen
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0? Unknown - pathogenic g.? - del ex1-3 - USP9X_000005 - PubMed: Holm 2001 - - Germline - - - - - DNA SSCA, SEQ - - XLHR 112-04 PubMed: Holm 2001 mother’s brother M - United States - - - - treatment started within 1y of diagnosis 1 Johan den Dunnen
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0? Maternal (confirmed) - pathogenic g.? - del ex1-3 - USP9X_000005 - PubMed: Holm 2001 - - Germline - - - - - DNA SSCA, SEQ - - XLHR 112-02 PubMed: Holm 2001 son M - United States - - - - treatment started within 1y of diagnosis 1 Johan den Dunnen
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0? Maternal (confirmed) - pathogenic g.(?_22050443)_(22065330_22094505)del g.(?_22032325)_(22047212_22076387)del del ex1-3 - PHEX_000683 - PubMed: Park 2021 - - Germline - - - - - DNA SEQ - - XLHR Pat45 PubMed: Park 2021 2-generation family, affected mother/son M - Korea, South (Republic) - - - - - 2 Johan den Dunnen
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0? Unknown - pathogenic g.(?_22050443)_(22065330_22094505)del g.(?_22032325)_(22047212_22076387)del del ex1-3 - PHEX_000683 - PubMed: Park 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR Pat45-1 PubMed: Park 2021 mother F - Korea, South (Republic) - - - - - 1 Johan den Dunnen
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0? Parent #1 - pathogenic g.(?_22050443)_(22065330_22094505)del g.(?_22032325)_(22047212_22076387)del del ex1-3 - PHEX_000683 family, 2 affected PubMed: Kinoshita 2012 - - Germline - - - - - DNA SEQ - - XLHR Fam1Pat1 PubMed: Kinoshita 2012 family, 2 affected F - Japan - - - - - 2 Johan den Dunnen
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0? Parent #1 - pathogenic g.(?_22050443)_(22065330_22094505)del g.(?_22032325)_(22047212_22076387)del del ex1-3 - PHEX_000683 - PubMed: Kinoshita 2012 - - Germline - - - - - DNA SEQ - - XLHR Fam1Pat2 PubMed: Kinoshita 2012 - M - Japan - - - - - 1 Johan den Dunnen
+/+? _1_3i c.-681_(349+1_350-1){0} r.? p.0? Unknown - pathogenic g.(?_22050443)_(22065330_22094505)del g.(?_22032325)_(22047212_22076387)del - - PHEX_000683 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_5i c.-681_(663+1_664-1){0} r.0? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22095821_22108546)del g.(?_22032325)_(22077703_22090428)del del ex1-5 - PHEX_000707 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR - PubMed: Sarafrazi 2022 3-5 cases - - - Asia - - - - 3 Johan den Dunnen
+/. _1_5i c.-681_(663+1_664-1){0} r.? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22095821_22108546)del g.(?_22032325)_(22077703_22090428)del - - PHEX_000707 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_22_ c.-681_*3357{0} r.0? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22269427_?)del g.(?_22032325)_(22251310_?)del del ex1-22 - PHEX_000711 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR - PubMed: Sarafrazi 2022 fewer then 3 cases - - - - - - - - 1 Johan den Dunnen
+/. _1_22_ c.-681_*3357{0} r.? p.0? Unknown ACMG pathogenic g.(?_22050443)_(22269427_?)del g.(?_22032325)_(22251310_?)del - - PHEX_000711 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_3i c.-681_349+9593{0} r.0? p.0? Unknown - pathogenic (dominant) g.22034835_22074923del g.22016717_22056805del g.22016715_22056805del - PHEX_000524 - PubMed: Guven 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR FamVIIIPat3 PubMed: Guven 2017 family, 1 affected, unaffected parents M - Turkey - - - - - 1 Johan den Dunnen
+/. 15i_22_ c.1645+7268_*3357{0} r.? p.? Unknown - pathogenic g.22215887_22395767del - g.22,215,887–22,395,767del - PHEX_000452 - PubMed: Acar 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR FamVPat1 PubMed: Acar 2018 2-generation family, affected father/sib M - Turkey - - - - - 2 Johan den Dunnen
+/. 15i_22_ c.1645+7268_*3357{0} r.? p.? Paternal (confirmed) - pathogenic g.22215887_22395767del - g.22,215,887–22,395,767del - PHEX_000452 - PubMed: Acar 2018 - - Germline - - - - - DNA SEQ - - XLHR FamVPat3 PubMed: Acar 2018 sib F - Turkey - - - - - 1 Johan den Dunnen
+/. 20 c.2055(ins5) r.(?) p.? Unknown - pathogenic g.22245713(ins5) g.22227596(ins5) codon687 ins5 - PHEX_000080 - PubMed: Dixon 1998 - - Germline - - GE - - DNA SSCA, SEQ - - XLHR - PubMed: Dixon 1998 - - - - - - - - - 1 Johan den Dunnen
+?/. 22 c.[2155G>T/=] r.(?) p.(Gly719Cys) Unknown - likely pathogenic g.[22265975G>T/=] g.[22247858G>T/=] [=;2155G>T] - PHEX_000189 mosaicism PubMed: Gaucher 2009 - - Germline/De novo (untested) - - - - - DNA MCA, SEQ - - XLHR - PubMed: Gaucher 2009 patient - - France - - - - - 1 Johan den Dunnen
+?/. 6 c.[665T>C/=] r.(?) p.(Leu222Pro) Unknown - likely pathogenic g.[22108548T>C/=] g.[22090430T>C/=] [=;665T>C] - PHEX_000188 mosaicism PubMed: Gaucher 2009 - - Germline/De novo (untested) - - - - - DNA MCA, SEQ - - XLHR - PubMed: Gaucher 2009 patient - - France - - - - - 1 Johan den Dunnen
?/. 1 c.-430A>G r.(?) p.? Unknown - VUS g.22050694A>G g.22032576A>G - - PHEX_000712 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-92G>A r.(?) p.(=) Unknown - benign g.22051032G>A g.22032914G>A - - PHEX_000083 - PubMed: Dixon 1998 - - Germline - 0.43 - - - DNA SSCA, SEQ - - XLHR - PubMed: Dixon 1998 - - - - - - - - - 1 Johan den Dunnen
?/. 1 c.-92G>A r.(?) p.(=) Unknown - VUS g.22051032G>A g.22032914G>A - - PHEX_000083 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-33C>T r.(?) p.(=) Unknown - benign g.22051091C>T g.22032973C>T - - PHEX_000084 - PubMed: Dixon 1998 - - Germline - 0.18 - - - DNA SSCA, SEQ - - XLHR - PubMed: Dixon 1998 - - - - - - - - - 1 Johan den Dunnen
-/. 1 c.-33C>T r.(?) p.? Unknown - benign g.22051091C>T g.22032973C>T 1-33C>T - PHEX_000084 - PubMed: Gaucher 2009 - rs5951494 Germline - 0.10 - - - DNA MCA, SEQ - - XLHR - PubMed: Gaucher 2009 patients - - France - - - - - 1 Johan den Dunnen
-/. 1 c.-33C>T r.(?) p.? Unknown - benign g.22051091C>T g.22032973C>T - - PHEX_000084 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-33C>T r.(?) p.(=) Unknown - benign g.22051091C>T - PHEX(NM_000444.6):c.-33C>T - PHEX_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-33C>T r.(?) p.(=) Unknown - benign g.22051091C>T - PHEX(NM_000444.6):c.-33C>T - PHEX_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1_1i c.-29_118+534del r.0? p.0? Unknown - pathogenic g.22051095_22051775del g.22032977_22033657del - - PHEX_000713 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - - - DNA SEQ - - HR - PubMed: Sarafrazi 2022 fewer then 3 cases - - Japan - - - - - 1 Johan den Dunnen
+/. _1_1i c.-29_118+534del r.0? p.0? Unknown - pathogenic g.22051095_22051775del g.22032977_22033657del - - PHEX_000713 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.-14_8delinsTGGGAGCAGCGTGG r.(?) p.0? Unknown - pathogenic g.22051110_22051131delinsTGGGAGCAGCGTGG g.22032992_22033013delinsTGGGAGCAGCGTGG - - PHEX_000085 - PubMed: Beck-Nielsen 2012 - - Germline - - - - - DNA DHPLC, SEQ - - XLHR Fam1 PubMed: Beck-Nielsen 2012 - M - Denmark - - - - - 1 Johan den Dunnen
?/. 1 c.-14_8delinsTGGGAGCAGCGTGG r.(?) p.0? Unknown - VUS g.22051110_22051131delinsTGGGAGCAGCGTGG g.22032992_22033013delinsTGGGAGCAGCGTGG - - PHEX_000085 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.? Unknown - pathogenic g.(22151742_22186428)_(22269427_?)del g.(22133625_22168311)_(22251310_?)del c.2086_?del, Ala469_?del - PHEX_000681 - PubMed: Rodriguez-Rubio 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR FamXVIIPat1 PubMed: Rodriguez-Rubio 2021 index F - Spain - - - - - 1 Johan den Dunnen
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? Parent #1 - pathogenic g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del del ex17-22 - PHEX_000521 - PubMed: Francis 1997 - - Germline - - - - - DNA SSCA, SEQ - - XLHR 314Pat4004 PubMed: Francis 1997 - M - Germany - - - - - 1 Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{0} r.? p.? Parent #1 - pathogenic g.? - del ex19-22 - PHEX_000705 - PubMed: Francis 1997 - - Germline - - - - - DNA SSCA, SEQ - - XLHR 349Pat7756 PubMed: Francis 1997 - M - Switzerland - - - - - 1 Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{0} - - Unknown - pathogenic (dominant) g.(22239861_22244559)_(22269427_?)del g.(22221744_22226442)_(22251310_?)del del ex6-15;19-22 - PHEX_000705 non-contiguous deletion exons 6-15 and 19-22 PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - DNA SEQ, MLPA - - HR - PubMed: Zhang 2019 - - - China - - - - - 1 Johan den Dunnen
+/. 19i_22_ c.(1965+1_1966-1)_*3357{0} r.? p.? Unknown - pathogenic g.(22244626_22245623)_(22269427_?)del g.(22226509_22227506)_(22251310_?)del c.2648_?del, del ex20-.. - PHEX_000702 - PubMed: Rodriguez-Rubio 2021 - - Germline/De novo (untested) - - - - - DNA SEQ - - XLHR FamXIPat1 PubMed: Rodriguez-Rubio 2021 index M - Spain - - - - - 1 Johan den Dunnen
+?/. _1_22_ c.-681_*3357{2} r.? p.? Maternal (confirmed) - likely benign (!) g.(?_22050443)_(22269427_?)dup g.(?_22032325)_(22251310_?)dup - - PHEX_000368 - PubMed: Zheng 2020 - - Germline - - - - - DNA PCRq, SEQ - - XLHR HR45 PubMed: Zheng 2020 patient M - China - - - - - 2 Johan den Dunnen
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