Unique variants in the PHEX gene

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

1060 entries on 11 pages. Showing entries 1 - 100.
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Effect     

Reported     

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 _1 - r.(?) p.(?) - VUS g.22050695A>G g.22032577A>G - - PHEX_000082 - PubMed: Dixon 1998 - - Germline - - - - - Johan den Dunnen
+/. 1 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) - - - - - Johan den Dunnen
+/. 1 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) - - - - - Johan den Dunnen
+/. 1 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) - - - - - Johan den Dunnen
+/. 2 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 - - - - - Johan den Dunnen
+/. 1 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 - - - - - Johan den Dunnen
+/. 1 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) - - - - - Johan den Dunnen
?/. 2 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), SUMMARY record - - - - - Johan den Dunnen
+/. 2 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, PubMed: Zheng 2020 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 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) - - - - - Johan den Dunnen
+/. 4 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.? ACMG pathogenic, pathogenic (dominant) g.(22151742_22186428)_(22269427_?)del, g.? g.(22133625_22168311)_(22251310_?)del del ex 13-22, del ex13-22 - PHEX_000681, PHEX_000696, USP9X_000005 Del (>80 Kb) PubMed: Morey 2011, PubMed: Park 2021, PubMed: Sarafrazi 2022, PubMed: Zhang 2019 - - Germline, Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 1 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) - - - - - Johan den Dunnen
+/. 1 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) - - - - - Johan den Dunnen
+/., ?/. 7 15i_22_ c.(1645+1_1646-1)_*3357{0} r.? p.? ACMG pathogenic, pathogenic (dominant), VUS g.(22208620_22231020)_(22269427_?)del, g.? g.(22190503_22212903)_(22251310_?)del c.1646-?_2453+?del, c.2211_?del, c.2327_?del, del ex16-.., del ex16-22 - PHEX_000697, USP9X_000005 Del (>34 Kb) PubMed: Beck-Nielsen 2012, PubMed: Capelli 2015, PubMed: Hernandez-Frias 2019, PubMed: Morey 2011, 2 more items - - Germline, Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 1 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 - - - - - Johan den Dunnen
+/., +/?, +?/. 5 16i_22_ c.(1700+1_1701-1)_*3357{0} r.? p.? - likely pathogenic (dominant), pathogenic, pathogenic (dominant) g.(22212959_22219035)_(2248361_?)del, g.(22231076_22237152)_(22269427_?)del g.(22212959_22219035)_(22251310_?)del, g.(22231076_22237152)_(22251310_?)del del ex 17-22, del ex17-22 - PHEX_000521, PHEX_000700 - PubMed: Obara-Moszynska 2020, PubMed: Sarafrazi 2022, PubMed: Zhang 2019, PubMed: Zheng 2020 - - De novo, Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 1 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 - - - - - Johan den Dunnen
?/. 1 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 - - - - - Johan den Dunnen
+/., ?/. 7 18i_22_ c.(1899+1_1900-1)_*3357{2} r.? p.? - pathogenic, pathogenic (dominant), VUS g.(22239861_22244559)_(22269427_?)dup g.(22221744_22226442)_(22251310_?)dup c.?-2664dup2949-?, c.?−2548dup2833-? - USP9X_000005 - PubMed: Hernandez-Frias 2019, PubMed: Rodriguez-Rubio 2021, PubMed: Sarafrazi 2022 - - Germline, SUMMARY record - - - - - Johan den Dunnen
+/., ?/. 2 19i_22_ c.(1965+1_1966-1)_*3357{0} r.? p.? - pathogenic (dominant), VUS g.(22244626_22245623)_(22269427_?)del g.(22226509_22227506)_(22251310_?)del c.2532_?del - PHEX_000516, PHEX_000702 - PubMed: Hernandez-Frias 2019, PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 7 20i_22_ c.(2070+1_2071-1)_*3357{0} r.? p.? ACMG pathogenic, pathogenic (dominant) g.(22245729_22263449)_(22269427_?)del g.(22227612_22245332)_(22251310_?)del del ex21-22 - PHEX_000522, PHEX_000703 - PubMed: Clausmeyer 2009, PubMed: Sarafrazi 2022, PubMed: Zhang 2019 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
?/. 2 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), SUMMARY record - - - - - Johan den Dunnen
+/. 4 21i_22i, 21i_22_ c.(2147+1_2148-1)_*3357{0} r.? p.? ACMG pathogenic, pathogenic (dominant) g.(22263527_22265967)_(22269427_?)del g.(22245410_22247850)_(22251310_?)del del ex22 - PHEX_000523, PHEX_000704 >1.5 kb deletion PubMed: Clausmeyer 2009, PubMed: Sarafrazi 2022, PubMed: Zhang 2019 - - Germline, Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 1 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) - - - - - Johan den Dunnen
+/. 3 3i_22_ c.(349+1_350-1)_*3357{0} r.? p.? ACMG pathogenic, pathogenic (dominant) g.(22065330_22094505)_(22269427_?)del g.(22047212_22076387)_(22251310_?)del del ex4-22 - PHEX_000517 - PubMed: Sarafrazi 2022, PubMed: Zhang 2019 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 1 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 - - - - - Johan den Dunnen
+/. 1 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) - - - - - Johan den Dunnen
+/. 1 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) - - - - - Johan den Dunnen
+/. 2 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), SUMMARY record - - - - - Johan den Dunnen
+/., +?/., ?/. 11 22 c.*231A>G r.(?), r.? p.(=), p.(?), p.? ACMG likely pathogenic, pathogenic, VUS (!) g.22266301A>G g.22248184A>G [*58C>T;*231A>G] - PHEX_000313 high frequency of variant esp. in male cases, not in 867 control chromosomes PubMed: Ichikawa 2008, PubMed: Mumm 2015, PubMed: Sarafrazi 2022 - - Germline, Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
?/. 8 22 c.*58C>T r.(?) p.(=), p.(?) - VUS g.22266128C>T g.22248011C>T [*58C>T;*231A>G] - PHEX_000362 - PubMed: Ichikawa 2008, PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/., +?/. 2 _1_9i c.-681_(1079+1_1080-1){0} r.0?, r.? p.0? - likely pathogenic, pathogenic g.(?_22050443)_(22117270_22129584)del g.(?_22032325)_(22099152_22111466)del del ex1-9 - PHEX_000684 >67 kb deletion PubMed: Clausmeyer 2009, PubMed: Sarafrazi 2022 - - Germline, SUMMARY record - - - - - Johan den Dunnen
+/. 2 _1_10i c.-681_(1173+1_1174-1){0} r.0?, r.? 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), SUMMARY record - - - - - Johan den Dunnen
+/. 2 _1_1i c.-681_(118+1_119-1){0} r.0?, r.? p.0? ACMG pathogenic, pathogenic (dominant) g.(?_22050443)_(22051242_22056586)del g.(?_22032325)_(22033124_22038468)del del ex1 - PHEX_000682 - PubMed: Sarafrazi 2022, PubMed: Zivicnjak 2011 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 2 _1_14i c.-681_(1586+1_1587-1){0} r.0?, r.? 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), SUMMARY record - - - - - Johan den Dunnen
+/. 2 _1_15i c.-681_(1645+1_1646-1){0} r.0?, r.? 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), SUMMARY record - - - - - Johan den Dunnen
+/. 2 _1_2i c.-681_(187+1_188-1){0} r.0?, r.? 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), SUMMARY record - - - - - Johan den Dunnen
+/+?, +/. 8 _1_3i c.-681_(349+1_350-1){0} r.0?, r.? p.0? - pathogenic g.(?_22050443)_(22065330_22094505)del, g.? g.(?_22032325)_(22047212_22076387)del del ex1-3 - PHEX_000683, USP9X_000005 family, 2 affected PubMed: Holm 2001, PubMed: Kinoshita 2012, PubMed: Park 2021, PubMed: Sarafrazi 2022 - - Germline, Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 2 _1_5i c.-681_(663+1_664-1){0} r.0?, r.? p.0? ACMG pathogenic g.(?_22050443)_(22095821_22108546)del g.(?_22032325)_(22077703_22090428)del del ex1-5 - PHEX_000707 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 2 _1_22_ c.-681_*3357{0} r.0?, r.? p.0? ACMG pathogenic g.(?_22050443)_(22269427_?)del g.(?_22032325)_(22251310_?)del del ex1-22 - PHEX_000711 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 1 _1_3i c.-681_349+9593{0} r.0? p.0? - pathogenic (dominant) g.22034835_22074923del g.22016717_22056805del g.22016715_22056805del - PHEX_000524 - PubMed: Guven 2017 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 15i_22_ c.1645+7268_*3357{0} r.? p.? - pathogenic g.22215887_22395767del - g.22,215,887–22,395,767del - PHEX_000452 - PubMed: Acar 2018 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 17 c.1735G>M r.(?) p.(Gly579Arg) - pathogenic g.22237187G>M g.22219070G>M - - PHEX_000026 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - Johan den Dunnen
+/. 1 18 c.1880^1881G>A r.(?) p.(Trp627Ter) - pathogenic g.22239841^22239841G>A - - - PHEX_000557 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - Johan den Dunnen
+/. 1 20 c.2055(ins5) r.(?) p.? - pathogenic g.22245713(ins5) g.22227596(ins5) codon687 ins5 - PHEX_000080 - PubMed: Dixon 1998 - - Germline - - GE - - Johan den Dunnen
?/. 1 21 c.2077_*4delinsA r.(?) p.? - VUS g.22263456_22266074delinsA g.22245339_22247957delinsA - - PHEX_000998 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - Johan den Dunnen
+/. 2 22 c.2172_*236del r.(?) p.(Phe724_Trp749delinsLeuAsnPro) ACMG pathogenic g.22265992_22266306del g.22247875_22248189del - - PHEX_001021 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
-/. 1 7i c.849+138A= r.(?) p.? - benign g.22112355= g.22094237= 849+138G>A - PHEX_000241 - PubMed: Gaucher 2009 - rs6629449 Germline - 0.025 - - - Johan den Dunnen
+/., ?/. 3 - c.? r.(?) p.? - pathogenic (dominant), VUS g.? - 1721C>G, 281A>G - USP9X_000005 - PubMed: Imel 2010 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. 1 22 c.[2155G>T/=] r.(?) p.(Gly719Cys) - likely pathogenic g.[22265975G>T/=] g.[22247858G>T/=] [=;2155G>T] - PHEX_000189 mosaicism PubMed: Gaucher 2009 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. 1 6 c.[665T>C/=] r.(?) p.(Leu222Pro) - likely pathogenic g.[22108548T>C/=] g.[22090430T>C/=] [=;665T>C] - PHEX_000188 mosaicism PubMed: Gaucher 2009 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 1 c.-430A>G r.(?) p.? - VUS g.22050694A>G g.22032576A>G - - PHEX_000712 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - Johan den Dunnen
-/., ?/. 2 1 c.-92G>A r.(?) p.(=) - benign, VUS g.22051032G>A g.22032914G>A - - PHEX_000083 - PubMed: Dixon 1998, PubMed: Sarafrazi 2022 - - Germline, SUMMARY record - 0.43 - - - Johan den Dunnen
-/. 3 1 c.-33C>T r.(?) p.(=), p.? - benign g.22051091C>T g.22032973C>T 1-33C>T - PHEX_000084 - PubMed: Dixon 1998, PubMed: Gaucher 2009, PubMed: Sarafrazi 2022 - rs5951494 Germline, SUMMARY record - 0.10, 0.18 - - - Johan den Dunnen
+/. 2 1_1i, _1_1i c.-29_118+534del r.0? p.0? - pathogenic g.22051095_22051775del g.22032977_22033657del - - PHEX_000713 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/., ?/. 2 1 c.-14_8delinsTGGGAGCAGCGTGG r.(?) p.0? - pathogenic, VUS g.22051110_22051131delinsTGGGAGCAGCGTGG g.22032992_22033013delinsTGGGAGCAGCGTGG - - PHEX_000085 - PubMed: Beck-Nielsen 2012, PubMed: Sarafrazi 2022 - - Germline, SUMMARY record - - - - - Johan den Dunnen
+/. 1 12i_22_ c.(1404+1_1405-1)_*3357{0} r.? p.? - 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) - - - - - Johan den Dunnen
+/. 1 16i_17i c.(1700+1_1701-1)_(1768+1_1769-1)del r.? p.? - pathogenic (dominant) g.(22231076_22237152)_(22237221_22239729)del g.(22212959_22219035)_(22219104_22221612)del del ex17 - PHEX_000698 - PubMed: Ito 2005 - - Germline yes - - - - Johan den Dunnen
+/. 1 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_000521 - PubMed: Francis 1997 - - Germline - - - - - Johan den Dunnen
+/. 2 18i_22_ c.(1899+1_1900-1)_*3357{0} -, r.? -, p.? - pathogenic, pathogenic (dominant) g.(22239861_22244559)_(22269427_?)del, g.? g.(22221744_22226442)_(22251310_?)del del ex19-22, del ex6-15;19-22 - PHEX_000705 non-contiguous deletion exons 6-15 and 19-22 PubMed: Francis 1997, PubMed: Zhang 2019 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 19i_22_ c.(1965+1_1966-1)_*3357{0} r.? p.? - 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) - - - - - Johan den Dunnen
+/., +?/. 2 _1_22_ c.-681_*3357{2} r.? p.? - likely benign (!) g.(?_22050443)_(22269427_?)dup g.(?_22032325)_(22251310_?)dup - - PHEX_000368 - PubMed: Zheng 2020 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 _1_3i c.-681_350-13302{0} r.0? p.0? - pathogenic (dominant) g.22029061_22081204del g.22010943_22063086del del ex1-3 - PHEX_000181 52143 bp deletion PubMed: Saito 2009 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.1880^1881G>A r.(?) p.(Trp627*) - pathogenic (dominant) g.22239841^22239841G>A g.22221724^22221725G>A W627X - PHEX_000557 - PubMed: Murthy 2009 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.1936(_?)del r.? p.? - pathogenic (dominant) g.22244596(_?)del - 1936_?del (Asp646_?del) - PHEX_000554 - PubMed: Martin Ramos 2020 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/., +?/., ?/. 3 1 c.1A>G r.(?) p.(Met1?) - likely pathogenic (dominant), pathogenic (dominant), VUS g.22051124A>G g.22033006A>G M1V - PHEX_000525 - PubMed: Sarafrazi 2022, PubMed: Zhang 2019, PubMed: Zivicnjak 2011 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 2 1 c.2T>C r.(?) p.(Met1?) ACMG pathogenic g.22051125T>C g.22033007T>C - - PHEX_000714 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 3 1 c.4G>T r.(?) p.(Glu2*), p.(Glu2Ter) - pathogenic g.22051127G>T g.22033009G>T - - PHEX_000371 - PubMed: Capelli 2015, PubMed: Sarafrazi 2022 - - Germline, SUMMARY record - - - - - Johan den Dunnen
+/., +?/., -?/., ?/. 5 1 c.10G>C r.(?) p.(Glu4Gln) - likely benign, likely pathogenic, likely pathogenic (dominant), pathogenic, VUS g.22051133G>C g.22033015G>C PHEX(NM_000444.4):c.10G>C (p.(Glu4Gln)), PHEX(NM_000444.5):c.10G>C (p.E4Q) - PHEX_000004 classification based on frequency in 305 unrelated individuals, VKGL data sharing initiative Nederland PubMed: Le 2019, PubMed: Sarafrazi 2022, PubMed: Zhang 2019 - - CLASSIFICATION record, Germline, Germline/De novo (untested), SUMMARY record - frequency 0.014 - - - Global Variome, with Curator vacancy, Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 6 1 c.15_16del r.(?), r.15_16del p.(Gly6Glufs*44), p.(Gly6GlufsTer44), p.Gly6GlufsTer44 ACMG pathogenic, pathogenic (dominant) g.22051138_22051139del g.22033020_22033021del 15_16delAG, c.15_16delAG, PHEX(NM_000444.6):c.15_16delAG (p.G6Efs*44) - PHEX_000086 VKGL data sharing initiative Nederland PubMed: Beck-Nielsen 2012, PubMed: Kinoshita 2012, PubMed: Park 2021, PubMed: Sarafrazi 2022, 1 more item - - CLASSIFICATION record, Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen, VKGL-NL_Groningen
+/. 3 1 c.17_18del r.(?) p.(Gly6GlufsTer44) - pathogenic g.22051140_22051141del g.22033022_22033023del c.16delGG - PHEX_000190 - PubMed: Holm 2001, PubMed: Sarafrazi 2022 - - Germline, SUMMARY record - - - - - Johan den Dunnen
+/. 2 1 c.19_20dup r.(?) p.(Ser7ArgfsTer26) - pathogenic g.22051142_22051143dup g.22033024_22033025dup 20_21insAG - PHEX_000191 - PubMed: Gaucher 2009, PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
?/. 1 1 c.24C>T r.(?) p.(Ser8=) - VUS g.22051147C>T g.22033029C>T - - PHEX_000715 - PubMed: Sarafrazi 2022 - - SUMMARY record - - - - - Johan den Dunnen
+/. 2 1 c.27_28insA r.(?) p.(Glu10ArgfsTer41) ACMG pathogenic g.22051150_22051151insA g.22033032_22033033insA - - PHEX_000716 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 1 - c.28G>T r.(?) p.(Glu10Ter) - pathogenic (dominant) g.22051151G>T g.22033033G>T - - PHEX_000569 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 1 c.30_36del r.(?) p.(Thr11ArgfsTer19) ACMG pathogenic g.22051153_22051159del g.22033035_22033041del - - PHEX_000717 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 2 1 c.49A>T r.(?) p.(Arg17Ter) ACMG pathogenic g.22051172A>T g.22033054A>T - - PHEX_000718 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 14 1 c.58C>T r.(?), r.58c>u p.(Arg20*), p.(Arg20Te, p.(Arg20Ter), p.Arg20Ter ACMG pathogenic, pathogenic (dominant) g.22051181C>T g.22033063C>T 51C>T, 58C>T, R20X, R20X - PHEX_000165 - PubMed: Cho 2005, PubMed: Park 2021, PubMed: Francis 1997, PubMed: Holm 1997,PubMed: Holm 2001, 8 more items - - Germline, Germline/De novo (untested), SUMMARY record - - TaqI- - - Johan den Dunnen
-?/. 1 - c.59G>A r.(?) p.(Arg20Gln) - likely benign g.22051182G>A g.22033064G>A PHEX(NM_000444.5):c.59G>A (p.R20Q) - PHEX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., ?/. 2 1 c.64G>T r.(?) p.(Ala22Ser) - pathogenic, VUS g.22051187G>T g.22033069G>T - - PHEX_000192 - PubMed: Sarafrazi 2022, PubMed: Song 2007 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 2 1 c.67_74del r.(?) p.(Leu23ValfsTer25) ACMG pathogenic g.22051190_22051197del g.22033072_22033079del - - PHEX_000719 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 2 1 c.68del r.(?) p.(Leu23ArgfsTer9) ACMG pathogenic g.22051191del g.22033073del - - PHEX_000720 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 6 1 c.77_78del r.(?) p.(Phe26CysfsTer24) - pathogenic, pathogenic (dominant) g.22051200_22051201del g.22033082_22033083del c.641_642delTT, c.642_643delTT, c.758_759delTT - PHEX_000087 - PubMed: Hernandez-Frias 2019, PubMed: Morey 2011, PubMed: Rodriguez-Rubio 2021, PubMed: Sarafrazi 2022 - - Germline, SUMMARY record - - - - - Johan den Dunnen
-?/. 1 - c.81C>T r.(?) p.(Val27=) - likely benign g.22051204C>T - PHEX(NM_000444.5):c.81C>T (p.V27=) - PHEX_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 1 c.82G>A r.(?) p.(Gly28Ser) - likely benign g.22051205G>A, g.22237221G>C g.22033087G>A, g.22219104G>C G28S;delThr535 - PHEX_000307 - PubMed: Clausmeyer 2009, PubMed: Sarafrazi 2022 - - Germline, SUMMARY record - - - - - Johan den Dunnen
+/. 2 1 c.83del r.(?) p.(Gly28ValfsTer4) ACMG pathogenic g.22051206del g.22033088del - - PHEX_000721 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 1 - c.94dup r.(?) p.(Val32GlyfsTer19) - pathogenic (dominant) g.22051217dup g.22033099dup 94dupG - PHEX_000570 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 1 - c.96del r.(?) p.(Leu33TrpfsTer7) - pathogenic (dominant) g.22051219del g.22033101del 95_96delT - PHEX_000571 - PubMed: Zhang 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. 2 1 c.117del r.(?) p.(Val40Ter) - pathogenic g.22051240del g.22033122del 117delA - PHEX_000193 - PubMed: Gaucher 2009, PubMed: Sarafrazi 2022 - - Germline, SUMMARY record - - - - - Johan den Dunnen
+/. 4 1i c.118+1G>A r.spl p.? ACMG pathogenic, pathogenic (dominant) g.22051242G>A g.22033124G>A IVS1 - PHEX_000194 - PubMed: Popowska 2000, PubMed: Pronicka 2004, PubMed: Popowska 2001 from PHEXdb-MutID172, 2 more items - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 2 1i c.118+1G>T r.spl p.? ACMG pathogenic g.22051242G>T g.22033124G>T - - PHEX_000722 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+?/. 2 1i c.118+2del r.spl p.? ACMG likely pathogenic g.22051243del g.22033125del - - PHEX_000723 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/., ?/. 2 1i c.118+2T>G r.spl p.? - pathogenic, VUS g.22051243T>G g.22033125T>G - - PHEX_000380 - PubMed: Rodriguez-Rubio 2021, PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
-/., -?/. 2 - c.118+7G>T r.(=) p.(=) - benign, likely benign g.22051248G>T g.22033130G>T PHEX(NM_000444.4):c.118+7G>T (p.(=)), PHEX(NM_000444.6):c.118+7G>T - PHEX_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
+/. 3 1i c.119-1G>A r.spl p.? - pathogenic, pathogenic (dominant) g.22056586G>A g.22038468G>A IVS1-1G>A - PHEX_000195 - PubMed: HYP Consortium 1995 from PHEXdb-MutID129, PubMed: Sarafrazi 2022, PubMed: Zhang 2019 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 2 1i c.119-1G>C r.spl p.? - pathogenic, pathogenic (dominant) g.22056586G>C g.22038468G>C IVS1-1G>C - PHEX_000196 - PubMed: HYP Consortium 1995 from PHEXdb-MutID130, PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/., +?/. 2 1i_2i c.(118+1_119-1)_(187+1_188-1)del r.? p.? ACMG likely pathogenic, pathogenic (dominant) g.(22051242_22056586)_(22056656_22065167)del g.(22033124_22038468)_(22038538_22047049)del del ex2 - PHEX_000526 - PubMed: Sarafrazi 2022, PubMed: Zhang 2019 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
+/. 2 1i_4i c.(118+1_119-1)_(436+1_437-1)del r.(?) p.? - pathogenic g.? - del ex2-4 - USP9X_000005 - PubMed: Popowska 2000, PubMed: Pronicka 2004, PubMed: Popowska 2001 from PHEXdb-MutID178 - - Germline - - - - - Johan den Dunnen
+/. 1 1i_4i c.(118+1_119-1)_(436+1_437-1)deldel r.? p.? - pathogenic (dominant) g.? - del ex2-4 - USP9X_000005 - PubMed: HYP Consortium 1995 from PHEXdb-MutID178 - - Germline - - - - - Johan den Dunnen
+/. 2 2 c.124del r.(?) p.(Gln42LysfsTer4) ACMG pathogenic g.22056592del g.22038474del - - PHEX_000725 - PubMed: Sarafrazi 2022 - - Germline/De novo (untested), SUMMARY record - - - - - Johan den Dunnen
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