All variants in the PHEX gene

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

2589 entries on 26 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. _1 - r.(?) p.(?) - VUS g.22050695A>G g.22032577A>G - - PHEX_000082 - PubMed: Dixon 1998 - - Germline - - - 0 - Johan den Dunnen
+/. 9i_11i c.(1079+1_1080-1)_(1302+1_1303-1)del r.? p.? - pathogenic g.(22117270_22129584)_(22132705_22151639)del g.(22099152_22111466)_(22114587_22133522)del del ex10-11 - PHEX_000692 - PubMed: Park 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 9i_22_ c.(1079+1_1080-1)_*3357{0} r.? p.? - pathogenic (dominant) g.(22117270_22129584)_(22269427_?)del g.(22099152_22111466)_(22251310_?)del del ex10-22 - PHEX_000518 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 10i_11i c.(1173+1_1174-1)_(1302+1_1303-1)del r.? p.? - pathogenic g.(22129679_22132575)_(22132705_22151639)del g.(22111561_22114457)_(22114587_22133522)del del ex11 - PHEX_000693 - PubMed: Bai 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 1i_11i c.(118+1_119-1)_(1302+1_1303-1)dup r.? p.? - pathogenic g.(22051242_22056586)_(22132705_22151639)dup g.(22033124_22038468)_(22114587_22133522)dup dup ex2-11 - PHEX_000687 - PubMed: Capelli 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_11i c.(118+1_119-1)_(1302+1_1303-1)dup r.? p.? - pathogenic g.(22051242_22056586)_(22132705_22151639)dup g.(22033124_22038468)_(22114587_22133522)dup dup ex2-11 - PHEX_000687 - PubMed: Capelli 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_2i c.(118+1_119-1)_(187+1_188-1)del r.? p.? - pathogenic g.(22051242_22056586)_(22056656_22065167)del g.(22033124_22038468)_(22038538_22047049)del del ex2 - PHEX_000685 mother mosaic PubMed: Zheng 2020 - - Germline - - - 0 - Johan den Dunnen
+/. 1i_3i c.(118+1_119-1)_(349+1_350-1){0} r.? p.? - 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) - - - 0 - Johan den Dunnen
?/. 1i_22_ c.(118+1_119-1)_*3357{2} r.? p.? ACMG VUS g.(22051242_22056586)_(22269427_?)dup g.(22033124_22038468)_(22251310_?)dup dup ex2-22 - PHEX_000724 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 1i_22_ c.(118+1_119-1)_*3357{2} r.? p.? ACMG VUS g.(22051242_22056586)_(22269427_?)dup g.(22033124_22038468)_(22251310_?)dup - - PHEX_000724 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 11i_12i c.(1302+1_1303-1)_(1404+1_1405-1)del r.? p.? - pathogenic g.(22132705_22151639)_(22151742_22186428)del g.(22114587_22133522)_(22133625_22168311)del del ex12 - PHEX_000694 - PubMed: Zheng 2020 - - Germline - - - 0 - Johan den Dunnen
+/. 11i_12i c.(1302+1_1303-1)_(1404+1_1405-1)del r.? p.? - pathogenic g.(22132705_22151639)_(22151742_22186428)del g.(22114587_22133522)_(22133625_22168311)del del ex12 - PHEX_000694 - PubMed: Capelli 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 12i_13i c.(1404+1_1405-1)_(1482+1_1483-1)del r.? p.? - pathogenic g.(22151742_22186428)_(22186507_22196389)del g.(22133625_22168311)_(22168390_22178272)del del ex13 - PHEX_000695 - PubMed: Bai 2018 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.? - pathogenic g.? - del ex13-22 - USP9X_000005 Del (>80 Kb) PubMed: Morey 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.? - pathogenic g.(22151742_22186428)_(22269427_?)del g.(22133625_22168311)_(22251310_?)del del ex 13-22 - PHEX_000696 - PubMed: Park 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.? - pathogenic (dominant) g.(22151742_22186428)_(22269427_?)del g.(22133625_22168311)_(22251310_?)del del ex13-22 - USP9X_000005 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.? ACMG pathogenic g.(22151742_22186428)_(22269427_?)del g.(22133625_22168311)_(22251310_?)del - - PHEX_000681 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 12i_22_ c.(1404+1_1405-1)_*3357{2} r.? p.? - pathogenic (dominant) g.(22151742_22186428)_(22269427_?)dup g.(22133625_22168311)_(22251310_?)dup dup ex13-22 - PHEX_000519 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 14i_22_ c.(1586+1_1587-1)_*3357{0} r.? p.? - pathogenic (dominant) g.(22196494_22208560)_(22269427_?)del g.(22178377_22190443)_(22251310_?)del del ex15-22 - PHEX_000520 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? - pathogenic g.? - del ex16-22 - USP9X_000005 Del (>34 Kb) PubMed: Morey 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? - pathogenic g.? - c.1646-?_2453+?del - USP9X_000005 - PubMed: Beck-Nielsen 2012 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? - 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) - - - 0 - Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? - pathogenic g.(22208620_22231020)_(22269427_?)del g.(22190503_22212903)_(22251310_?)del del ex16-22 - PHEX_000697 - PubMed: Capelli 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? - 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) - - - 0 - Johan den Dunnen
+/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? ACMG pathogenic g.(22208620_22231020)_(22269427_?)del g.(22190503_22212903)_(22251310_?)del - - USP9X_000005 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
?/. 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? - VUS g.(22208620_22231020)_(22269427_?)del g.(22190503_22212903)_(22251310_?)del - - USP9X_000005 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 16i_18i c.(1700+1_1701-1)_(1899+1_1900-1)del r.? p.? - pathogenic g.(22231076_22237152)_(22239861_22244559)del g.(22212959_22219035)_(22221744_22226442)del del ex17-18 - PHEX_000699 - PubMed: Zheng 2020 - - Germline - - - 0 - Johan den Dunnen
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? - pathogenic g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del del ex17-22 - PHEX_000700 - PubMed: Zheng 2020 - - De novo - - - 0 - Johan den Dunnen
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? - pathogenic (dominant) g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del del ex17-22 - PHEX_000521 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? - pathogenic (dominant) g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del del ex17-22 - PHEX_000521 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+?/. 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? - 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) - - - 0 - Johan den Dunnen
+/? 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? - pathogenic g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del - - PHEX_000521 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 17i_22_ c.(1768+1_1769-1)_*3357{0) r.? p.? - pathogenic g.(22237221_22239729)_(22269427_?)del g.(22219104_22221612)_(22251310_?)del del ex18-22 - PHEX_000701 - PubMed: Capelli 2015 - - Germline - - - 0 - Johan den Dunnen
?/. 18i_22_ c.(1899+1_1900-1)_*3357{0} r.? p.? - VUS g.(22239861_22244559)_(22269427_?)del g.(22221744_22226442)_(22251310_?)del - - PHEX_000705 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? - pathogenic g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?-2664dup2949-? - USP9X_000005 - PubMed: Rodriguez-Rubio 2021 - - Germline - - - 0 - Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? - pathogenic g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?-2664dup2949-? - USP9X_000005 - PubMed: Rodriguez-Rubio 2021 - - Germline - - - 0 - Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? - pathogenic g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?-2664dup2949-? - USP9X_000005 - PubMed: Rodriguez-Rubio 2021 - - Germline - - - 0 - Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? - pathogenic g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?-2664dup2949-? - USP9X_000005 - PubMed: Rodriguez-Rubio 2021 - - Germline - - - 0 - Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? - pathogenic (dominant) g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?−2548dup2833-? - USP9X_000005 - PubMed: Hernandez-Frias 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? - pathogenic (dominant) g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?−2548dup2833-? - USP9X_000005 - PubMed: Hernandez-Frias 2019 - - Germline - - - 0 - Johan den Dunnen
?/. 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? - VUS g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup - - USP9X_000005 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 19i_22_ c.(1965+1_1966-1)_*3357{0} r.? p.? - 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) - - - 0 - Johan den Dunnen
?/. 19i_22_ c.(1965+1_1966-1)_*3357{0} r.? p.? - VUS g.(22244626_22245623)_(22269427_?)del g.(22226509_22227506)_(22251310_?)del - - PHEX_000702 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? - pathogenic g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000703 - PubMed: Clausmeyer 2009 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? - pathogenic (dominant) g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? - pathogenic (dominant) g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? - pathogenic (dominant) g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? - pathogenic (dominant) g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? ACMG pathogenic g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? ACMG pathogenic g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del - - PHEX_000522 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
?/. 20i_22_ c.(2070+1_2071-1)_*3357{2} r.? p.? ACMG VUS g.(22245729_22263449)_(22269427_?)dup g.(22227612_22245332)_(22251310_?)dup dup ex21-22 - PHEX_000995 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 20i_22_ c.(2070+1_2071-1)_*3357{2} r.? p.? ACMG VUS g.(22245729_22263449)_(22269427_?)dup g.(22227612_22245332)_(22251310_?)dup - - PHEX_000995 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 21i_22_ c.(2147+1_2148-1)_*3357{0} r.? p.? - pathogenic g.(22263527_22265967)_(22269427_?)del g.(22245410_22247850)_(22251310_?)del del ex22 - PHEX_000704 >1.5 kb deletion PubMed: Clausmeyer 2009 - - Germline - - - 0 - Johan den Dunnen
+/. 21i_22_ c.(2147+1_2148-1)_*3357{0} r.? p.? - pathogenic (dominant) g.(22263527_22265967)_(22269427_?)del g.(22245410_22247850)_(22251310_?)del del ex22 - PHEX_000523 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 21i_22i c.(2147+1_2148-1)_*3357{0} r.? p.? ACMG pathogenic g.(22263527_22265967)_(22269427_?)del g.(22245410_22247850)_(22251310_?)del del ex22 - PHEX_000523 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 21i_22_ c.(2147+1_2148-1)_*3357{0} r.? p.? ACMG pathogenic g.(22263527_22265967)_(22269427_?)del g.(22245410_22247850)_(22251310_?)del - - PHEX_000523 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 3i_20i c.(349+1_350-1)_(2070+1_2071-1)del r.? p.? - pathogenic g.(22065330_22094505)_(22245729_22263449)del g.(22047212_22076387)_(22227612_22245332)del del ex4-20 - PHEX_000688 >150 kb deletion PubMed: Clausmeyer 2009 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 3i_22_ c.(349+1_350-1)_*3357{0} r.? p.? - pathogenic (dominant) g.(22065330_22094505)_(22269427_?)del g.(22047212_22076387)_(22251310_?)del del ex4-22 - PHEX_000517 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 3i_22_ c.(349+1_350-1)_*3357{0} r.? p.? ACMG pathogenic g.(22065330_22094505)_(22269427_?)del g.(22047212_22076387)_(22251310_?)del del ex4-22 - PHEX_000517 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 3i_22_ c.(349+1_350-1)_*3357{0} r.? p.? ACMG pathogenic g.(22065330_22094505)_(22269427_?)del g.(22047212_22076387)_(22251310_?)del - - PHEX_000517 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. 6i_11i c.(732+1_733-1)_(1302+1_1303-1)del r.? p.? - pathogenic g.(22108616_22112100)_(22132705_22151639)del g.(22090498_22093982)_(22114587_22133522)del del ex7-11 - PHEX_000690 - PubMed: Zheng 2020 - - De novo - - - 0 - Johan den Dunnen
+/. 6i_8i c.(732+1_733-1)_(933+1_934-1)del r.spl p.? - pathogenic (dominant) g.(22108616_22112100)_(22115157_22117123)del g.(22090498_22093982)_(22097039_22099005)del del ex7-8 - PHEX_000689 - PubMed: Boukpessi 2017 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 7i_9i c.(849+1_850-1)_(1079+1_1080-1)del r.? p.? - pathogenic g.(22112218_22115072)_(22117270_22129584)del g.(22094100_22096954)_(22099152_22111466)del del ex8-9 - PHEX_000691 - PubMed: Park 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 8i_22_ c.(933+1_934-1)_*3357{0} r.? p.? ACMG pathogenic g.(22115157_22117123)_(22269427_?)del g.(22097039_22099005)_(22251310_?)del del ex9-22 - PHEX_000828 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 8i_22_ c.(933+1_934-1)_*3357{0} r.? p.? ACMG pathogenic g.(22115157_22117123)_(22269427_?)del g.(22097039_22099005)_(22251310_?)del - - PHEX_000828 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? - likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+?/. 22 c.*231A>G r.? p.? - likely pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 22 c.*231A>G r.? p.? - pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 22 c.*231A>G r.? p.? - pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 22 c.*231A>G r.? p.? - pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 22 c.*231A>G r.? p.? - pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. 22 c.*231A>G r.? p.? - pathogenic g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 not in 867 control chromosomes PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 22 c.*231A>G r.? p.(=) - VUS (!) g.22266301A>G g.22248184A>G - - PHEX_000313 high frequency of variant esp. in male cases PubMed: Mumm 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 22 c.*231A>G r.? p.(=) - VUS (!) g.22266301A>G g.22248184A>G - - PHEX_000313 high frequency of variant esp. in male cases PubMed: Mumm 2015 - - Germline - - - 0 - Johan den Dunnen
?/. 22 c.*231A>G r.? p.(=) - VUS (!) g.22266301A>G g.22248184A>G - - PHEX_000313 high frequency of variant esp. in male cases PubMed: Mumm 2015 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+?/. 22 c.*231A>G r.(?) p.(?) ACMG likely pathogenic g.22266301A>G g.22248184A>G - - PHEX_000313 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) - VUS g.22266128C>T g.22248011C>T - - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(=) - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. 22 c.*58C>T r.(?) p.(?) - VUS g.22266128C>T g.22248011C>T - - PHEX_000362 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. _1_9i c.-681_(1079+1_1080-1){0} r.0? p.0? - pathogenic g.(?_22050443)_(22117270_22129584)del g.(?_22032325)_(22099152_22111466)del del ex1-9 - PHEX_000684 >67 kb deletion PubMed: Clausmeyer 2009 - - Germline - - - 0 - Johan den Dunnen
+?/. _1_9i c.-681_(1079+1_1080-1){0} r.? p.0? - likely pathogenic g.(?_22050443)_(22117270_22129584)del g.(?_22032325)_(22099152_22111466)del - - PHEX_000684 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. _1_10i c.-681_(1173+1_1174-1){0} r.0? p.0? ACMG pathogenic g.(?_22050443)_(22129679_22132575)del g.(?_22032325)_(22111561_22114457)del del ex1-10 - PHEX_000708 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_10i c.-681_(1173+1_1174-1){0} r.? p.0? ACMG pathogenic g.(?_22050443)_(22129679_22132575)del g.(?_22032325)_(22111561_22114457)del - - PHEX_000708 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. _1_1i c.-681_(118+1_119-1){0} r.0? p.0? - pathogenic (dominant) g.(?_22050443)_(22051242_22056586)del g.(?_22032325)_(22033124_22038468)del del ex1 - PHEX_000682 - PubMed: Zivicnjak 2011 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_1i c.-681_(118+1_119-1){0} r.? p.0? ACMG pathogenic g.(?_22050443)_(22051242_22056586)del g.(?_22032325)_(22033124_22038468)del - - PHEX_000682 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. _1_14i c.-681_(1586+1_1587-1){0} r.0? p.0? ACMG pathogenic g.(?_22050443)_(22196494_22208560)del g.(?_22032325)_(22178377_22190443)del del ex1-14 - PHEX_000709 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_14i c.-681_(1586+1_1587-1){0} r.? p.0? ACMG pathogenic g.(?_22050443)_(22196494_22208560)del g.(?_22032325)_(22178377_22190443)del - - PHEX_000709 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. _1_15i c.-681_(1645+1_1646-1){0} r.0? p.0? ACMG pathogenic g.(?_22050443)_(22208620_22231020)del g.(?_22032325)_(22190503_22212903)del del ex1-15 - PHEX_000710 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_15i c.-681_(1645+1_1646-1){0} r.? p.0? ACMG pathogenic g.(?_22050443)_(22208620_22231020)del g.(?_22032325)_(22190503_22212903)del - - PHEX_000710 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. _1_2i c.-681_(187+1_188-1){0} r.0? p.0? ACMG pathogenic g.(?_22050443)_(22056656_22065167)del g.(?_22032325)_(22038538_22047049)del del ex1-2 - PHEX_000706 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+/. _1_2i c.-681_(187+1_188-1){0} r.? p.0? ACMG pathogenic g.(?_22050443)_(22056656_22065167)del g.(?_22032325)_(22038538_22047049)del - - PHEX_000706 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - 0 - Johan den Dunnen
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0? - pathogenic g.? - del ex1-3 - USP9X_000005 - PubMed: Holm 2001 - - Germline - - - 0 - Johan den Dunnen
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0? - pathogenic g.? - del ex1-3 - USP9X_000005 - PubMed: Holm 2001 - - Germline - - - 0 - Johan den Dunnen
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0? - pathogenic g.? - del ex1-3 - USP9X_000005 - PubMed: Holm 2001 - - Germline - - - 0 - Johan den Dunnen
+/. _1_3i c.-681_(349+1_350-1){0} r.0? p.0? - pathogenic g.(?_22050443)_(22065330_22094505)del g.(?_22032325)_(22047212_22076387)del del ex1-3 - PHEX_000683 - PubMed: Park 2021 - - Germline - - - 0 - Johan den Dunnen
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