Unique variants in the PAX2 gene

Information The variants shown are described using the NM_003990.3 transcript reference sequence.

154 entries on 2 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 - c.-10538G>T r.(?) p.(=) - benign g.102495480G>T g.100735723G>T PAX2(NM_001304569.2):c.15G>T (p.A5=) - PAX2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-10522A>T r.(?) p.(=) - likely benign g.102495496A>T - PAX2(NM_001304569.2):c.25+6A>T - PAX2_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.-203A>G r.(?) p.(=) - benign g.102505815A>G g.100746058A>G - - PAX2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-160G>T r.(?) p.(=) - likely benign g.102505858G>T g.100746101G>T - - PAX2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 _1_3i c.(?_-30)_(410+1_411-1)del r.0? p.0? - pathogenic g.(?_102505988)_(102510649_102539254)del - (?_-30)_(410+?)del - PAX2_000100 - PubMed: Heidet 2017 - - Germline/De novo (untested) - - - - - Matthew Bower
+/+ 1 _1_11_ c.(?_-30)_(*220_?)del r.0? p.0? - pathogenic g.(?_102505988)_(102587660_?)del - - - PAX2_000096 - PubMed: Heidet 2017 - - Germline/De novo (untested) - - - - - Matthew Bower
+/+ 5 _1_11_ c.-550_*2258{0} r.0 p.0 - pathogenic g.(99928954_99948269)_(103741327_103757755)del, g.(?_102020722)_(102825352 _?)del, 3 more items g.(98169197_98188512)_(101981570_101997998)del, g.(?_100260965)_(101065595_?)del, 3 more items hg18:g.(99918944_99938259)_(103731317_103747745)del, hg18:g.(?_102438000)_(102678000_?)del, 3 more items 46,XX,del(10)(q23.2q24.3) PAX2_000069, PAX2_000070, PAX2_000071, PAX2_000102 19 total genes in deleted segment, 240kb deletion, includes PAX2 and portion FAM178A gene, 3 more items PubMed: Benetti 2007, PubMed: Hoefele 2012, PubMed: Peltekova 2014, PubMed: Pfundt 2017, 1 more item - - De novo, Germline/De novo (untested) - - - - - Matthew Bower
+/+ 1 ? c.? r.? p.? - pathogenic g.? - 46,XY,t(10;13)(q24.3q12.3) 46,XY,t(10;13)(q24.3q12.3) PAX2_000043 translocation breakpoint believed to localize to intron 3 or 4 by Southern blot RFLP analysis PubMed: Narahara 1997 - - De novo - - - - - Matthew Bower
+?/+? 1 1 c.5A>G r.(?) p.(Asp2Gly) - likely pathogenic g.102506022A>G g.100746265A>G - - PAX2_000086 - PubMed: Barua 2014 - - Germline/De novo (untested) - - - - - Matthew Bower
+?/. 1 1 c.8T>C r.(?) p.(Met3Thr) ACMG VUS g.102506025T>C g.100746268T>C - - PAX2_000172 Mother is heterozygous, Father (variant not found). - - rs754968736 Germline ? - BciVI+, MslI- - - Miriam Erandi Reyna-Fabián
+/+ 1 1i c.43+1G>C r.spl p.? - pathogenic g.102506061G>C g.100746304G>C - - PAX2_000044 - PubMed: Bower 2012 - - De novo - - - - - Matthew Bower
-?/. 1 - c.43+3G>A r.spl? p.? - likely benign g.102506063G>A - PAX2(NM_003988.4):c.43+3G>A - PAX2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.43+10G>C r.(=) p.(=) - benign g.102506070G>C g.100746313G>C PAX2(NM_003988.5):c.43+10G>C - PAX2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/+ 1 2 c.58_64dup r.(?) p.(Gln22Argfs*34) - pathogenic g.102509517_102509523dup g.100749760_100749766dup 57_58insGTGAACC - PAX2_000094 - PubMed: Okumura et al.,2015 - - Germline/De novo (untested) - - - - - Matthew Bower
+/+ 1 2 c.59del r.(?) p.(Val20Glyfs*9) - pathogenic g.102509518del g.100749761del - - PAX2_000002 somatic mosaicism PubMed: Chung 2001 - - Somatic - - - - - Matthew Bower
+/+ 1 2 c.68del r.(?) p.(Leu23Profs*6) - pathogenic g.102509527del g.100749770del - - PAX2_000003 - PubMed: Cunliffe 1998 - - Germline - - - - - Matthew Bower
+/+, +/. 2 2 c.69del r.(?) p.(Val26Cysfs*3) - pathogenic, pathogenic (dominant) g.102509528del g.100749771del 69delC - PAX2_000004 - Journal: Negrisolo 2023, PubMed: Negrisolo 2010 - - De novo - - - - - Susanna Negrisolo, Matthew Bower
?/. 1 - c.70G>C r.(?) p.(Gly24Arg) - VUS g.102509529G>C g.100749772G>C - - PAX2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 2 c.71G>A r.(?) p.(Gly24Glu) - likely pathogenic g.102509530G>A g.100749773G>A - - PAX2_000005 - PubMed: Thomas 2011 - - Germline - - - - - Matthew Bower
?/. 1 - c.73G>C r.(?) p.(Gly25Arg) - VUS g.102509532G>C g.100749775G>C - - PAX2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 2 2 c.74G>T r.(?) p.(Gly25Val) - likely pathogenic g.102509533G>T - - - PAX2_000045 de novo in mother PubMed: Bower 2012 - - De novo, Germline - - - - - Matthew Bower
+/+ 1 2 c.75_76dup r.(?) p.(Val26Glyfs*4) - pathogenic g.102509534_102509535dup g.100749777_100749778dup - - PAX2_000007 - PubMed: Amiel 2000 - - De novo - - - - - Matthew Bower
+/+ 3 2 c.76del r.(?) p.(Val26Cysfs*3) - pathogenic g.102509535del g.100749778del - - PAX2_000006 de novo in mother PubMed: Heidet 2017, {PMID:Schimmenti 1999}, PubMed: Schimmenti 1999, {PMID:Schimmenti 1999} - - De novo, Germline - - - - - Matthew Bower
+/+, +/. 59 2 c.76dup r.(?) p.(Val26GlyFS*28), p.(Val26GlyfsTer28) - pathogenic g.102509535dup g.100749778dup NM_003987.3:69_70insG, 1 more item - PAX2_000001 germline and somatic mosaicism, germline mosaicism, presumed de novo- no prior family history, 1 more item PubMed: Amiel 2000 , PubMed: Amiel 2000, PubMed: Beby 2010, PubMed: Bower 2012, PubMed: Cheong 2007, 18 more items - - CLASSIFICATION record, De novo, Germline, Somatic - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, Matthew Bower
+?/+? 1 2 c.92_97del r.(?) p.(Arg31_Pro32del) - likely pathogenic g.102509551_102509556del g.100749794_100749799del - - PAX2_000008 - PubMed: Weber 2006 - - Germline - - - - - Matthew Bower
+?/. 1 - c.95C>G r.(?) p.(Pro32Arg) ACMG VUS g.102509554C>G - - - PAX2_000165 - - - - Germline/De novo (untested) - - - - - Jinu Han
-?/. 1 - c.96C>G r.(?) p.(Pro32=) - likely benign g.102509555C>G - PAX2(NM_003988.4):c.96C>G (p.P32=) - PAX2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.97C>T r.(?) p.(Leu33=) - likely benign g.102509556C>T - PAX2(NM_003988.4):c.97C>T (p.L33=) - PAX2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 2 c.98T>G r.(?) p.(Leu33Arg) - likely pathogenic g.102509557T>G g.100749800T>G - - PAX2_000046 - PubMed: Bower 2012 - - Germline - - - - - Matthew Bower
?/. 1 - c.103G>C r.(?) p.(Asp35His) - VUS g.102509562G>C g.100749805G>C PAX2(NM_000278.3):c.103G>C (p.(Asp35His)) - PAX2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/+? 1 2 c.115_120del r.(?) p.(Gln39_Arg40del) - likely pathogenic g.102509574_102509579del g.100749817_100749822del - - PAX2_000009 - PubMed: Salomon 2001 - - Germline - - - - - Matthew Bower
+/+ 5 2 c.119_120del r.(?) p.(Arg40Hisfs*13) - pathogenic g.102509578_102509579del g.100749821_100749822del - - PAX2_000092 - PubMed: Okumura 2015 - - Germline, Germline/De novo (untested) - - - - - Matthew Bower
+/+ 1 2 c.129_150del r.(?) p.(Glu43Aspfs*33) - pathogenic g.102509588_102509609del g.100749831_100749852del - - PAX2_000010 - PubMed: Schimmenti 1997 - - De novo - - - - - Matthew Bower
?/. 1 - c.131T>C r.(?) p.(Leu44Pro) - VUS g.102509590T>C - - - PAX2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 6 2 c.139_148del r.(?) p.(Gln47Glyfs*33) - pathogenic g.102509598_102509607del g.100749841_100749850del - - PAX2_000011 de novo in mother PubMed: Fletcher 2005 - - De novo, Germline - - - - - Matthew Bower
+?/. 1 2 c.153_155delinsTT r.(?) p.(Cys52Leufs*31) - likely pathogenic (dominant) g.102509612_102509614delinsTT g.100749855_100749857delinsTT 153_155delCTGinsTT - PAX2_000174 - Journal: Negrisolo 2023 - - De novo - - - - - Susanna Negrisolo
+?/+? 2 2 c.155G>A r.(?) p.(Cys52Tyr) - likely pathogenic g.102509614G>A g.100749857G>A - - PAX2_000068 - PubMed: Iatropoulos 2012 - - De novo - - - - - Matthew Bower
+?/+? 1 2 c.167G>A r.(?) p.(Arg56Gln) - likely pathogenic g.102509626G>A g.100749869G>A - - PAX2_000081 - PubMed: Barua 2014 - - Germline - - - - - Matthew Bower
+?/+? 2 2 c.182G>A r.(?) p.(Ser61Asn) - likely pathogenic g.102509641G>A g.100749884G>A - - PAX2_000064 - PubMed: Bower 2012 - - Germline - - - - - Matthew Bower
+?/+? 1 2 c.182G>T r.(?) p.(Ser61Ile) - likely pathogenic g.102509641G>T g.100749884G>T - - PAX2_000047 - PubMed: Bower 2012 - - Germline - - - - - Matthew Bower
+?/+? 1 2 c.183C>A r.(?) p.(Ser61Arg) - likely pathogenic g.102509642C>A g.100749885C>A - - PAX2_000097 - PubMed: Heidet 2017 - - Germline/De novo (untested) - - - - - Matthew Bower
+/+ 1 2 c.184_198del r.(?) p.(His62_Ser66del) - pathogenic g.102509643_102509657del g.100749886_100749900del - - PAX2_000048 - PubMed: Bower 2012 - - Germline - - - - - Matthew Bower
+/., +?/+? 2 2 c.187G>A r.(?) p.(Gly63Ser) - likely pathogenic, pathogenic g.102509646G>A g.100749889G>A - - PAX2_000093 - PubMed: Okumura 2015, PubMed: Sanna-Cherchi 2017, Journal: Sanna-Cherchi 2017 - - De novo, Germline/De novo (untested) - - - - - Johan den Dunnen, Matthew Bower
+?/+? 3 2 c.206T>C r.(?) p.(Leu69Pro) - likely pathogenic g.102509665T>C g.100749908T>C - - PAX2_000031 - PubMed: Bower 2012 - - De novo, Germline - - - - - Matthew Bower
+?/+? 1 2 c.211A>G r.(?) p.(Arg71Gly) - likely pathogenic g.102509670A>G g.100749913A>G - - PAX2_000075 - PubMed: Hwang 2013 - - Germline/De novo (untested) - - - - - Matthew Bower
+?/+? 1 2 c.212G>A r.(?) p.(Arg71Lys) - likely pathogenic g.102509671G>A g.100749914G>A - - PAX2_000099 - PubMed: Heidet 2017 - - Germline/De novo (untested) - - - - - Matthew Bower
+?/+? 4 2 c.212G>C r.(?) p.(Arg71Thr) - likely pathogenic g.102509671G>C g.100749914G>C - - PAX2_000056 de novo in mother PubMed: Higashide 2005, PubMed: Okumura 2015 - - De novo, Germline - - - - - Matthew Bower
+?/. 1 2 c.212G>T r.(?) p.(Arg71Met) - likely pathogenic (dominant) g.102509671G>T g.100749914G>T - - PAX2_000173 - Journal: Negrisolo 2023 - - De novo - - - - - Susanna Negrisolo
+/+? 1 2i c.213-2A>G r.(?) p.? - pathogenic g.102510449A>G g.100750692A>G - - PAX2_000103 - PubMed: Galvez-Ruiz 2018 - - Germline - - - - - Matthew Bower
+/. 1 - c.213-1G>A r.spl? p.? - pathogenic g.102510450G>A - - - PAX2_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 3 3 c.219C>G r.(?) p.(Tyr73*) - pathogenic g.102510457C>G g.100750700C>G - - PAX2_000057 - PubMed: Bower 2012 - - Germline - - - - - Matthew Bower
+/?, +?/+? 2 3 c.221_226dup r.(?) p.(Glu74_Thr75dup) - likely pathogenic, pathogenic g.102510459_102510464dup g.100750702_100750707dup 220_225dup - PAX2_000013 - PubMed: DeVriendt 1998, PubMed: DeVriendt 1998, PubMed: Liu 2018 - - De novo - - - - - Matthew Bower
+/+ 1 3 c.223_224dup r.(?) p.(Gly76Profs*8) - pathogenic g.102510461_102510462dup g.100750704_100750705dup - - PAX2_000095 - PubMed: Okumura 2015 - - Germline/De novo (untested) - - - - - Matthew Bower
+/+, +/+? 12 3 c.223_225dup r.(?) p.(Thr75dup) - pathogenic g.102510461_102510463dup g.100750704_100750706dup - - PAX2_000054 - PubMed: Bower 2012 - - Germline - - - - - Matthew Bower
+/., +?/+? 7 3 c.226G>A r.(?) p.(Gly76Ser) - likely pathogenic, pathogenic g.102510464G>A - PAX2(NM_003988.5):c.226G>A (p.G76S) - PAX2_000014 VKGL data sharing initiative Nederland PubMed: Devriendt 1998 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Matthew Bower
?/. 1 - c.226G>C r.(?) p.(Gly76Arg) - VUS g.102510464G>C - PAX2(NM_003988.4):c.226G>C (p.G76R) - PAX2_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 3 3 c.228_251dup r.(?) p.(Ser77_Gly84dup) - pathogenic g.102510466_102510489dup g.100750709_100750732dup - - PAX2_000052 - PubMed: Bower 2012 - - Germline - - - - - Matthew Bower
+?/+? 1 3 c.239C>T r.(?) p.(Pro80Leu) - likely pathogenic g.102510477C>T g.100750720C>T - - PAX2_000078 Maternal half sister and maternal grandmother reported to have renal disease, but not tested. PubMed: Barua 2014 - - Germline - - - - - Matthew Bower
+?/+? 6 3 c.250G>A r.(?) p.(Gly84Ser) - likely pathogenic g.102510488G>A g.100750731G>A - - PAX2_000034 - PubMed: Bower 2012 - - Germline - - - - - Matthew Bower
-/. 1 - c.255C>T r.(?) p.(Gly85=) - benign g.102510493C>T g.100750736C>T PAX2(NM_003988.5):c.255C>T (p.G85=) - PAX2_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. 1 - c.263C>T r.(?) p.(Pro88Leu) - likely pathogenic g.102510501C>T g.100750744C>T PAX2(NM_003988.5):c.263C>T (p.P88L) - PAX2_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 2 3 c.289del r.(?) p.(Asp97Thrfs*62) - pathogenic g.102510527del g.100750770del - - PAX2_000015 de novo in father PubMed: Amiel 2000 - - Germline - - - - - Matthew Bower
+/+ 5 3 c.310C>T r.(?) p.(Arg104*) - pathogenic g.102510548C>T g.100750791C>T - - PAX2_000016 - PubMed: Cheong 2007, PubMed: Cheong 2007, PubMed: Samimi 2008 - - De novo - - - - - Matthew Bower
+?/+? 1 3 c.320C>T r.(?) p.(Pro107Leu) - likely pathogenic g.102510558C>T g.100750801C>T - - PAX2_000076 - PubMed: Hwang 2013 - - Germline/De novo (untested) - - - - - Matthew Bower
+/+, +?/+? 10 3 c.331G>A r.(?) p.(Ala111Thr) - likely pathogenic, pathogenic g.102510569G>A g.100750812G>A - - PAX2_000058 - PubMed: Sellick 2004, PubMed: Bower 2012 - - De novo, Germline - - - - - Matthew Bower
+/. 1 - c.337del r.(?) p.(Glu113ArgfsTer46) - pathogenic g.102510575del g.100750818del PAX2(NM_003988.4):c.337delG (p.E113Rfs*46) - PAX2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+, +/. 8 3 c.343C>T r.(?) p.(Arg115*), p.(Arg115Ter) - pathogenic g.102510581C>T g.100750824C>T PAX2(NM_003988.5):c.343C>T (p.R115*) - PAX2_000059 VKGL data sharing initiative Nederland PubMed: Bower 2012, PubMed: Schimmenti 2003, PubMed: Schimmenti 2003, PubMed: Bower 2012 - - CLASSIFICATION record, De novo, Germline - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Matthew Bower
+?/+? 2 3 c.350G>C r.(?) p.(Arg117Pro) - likely pathogenic g.102510588G>C g.100750831G>C - - PAX2_000050 de novo in father PubMed: Bower 2012, PubMed: Madariaga 2013, PubMed: Madariaga 2013 - - Germline - - - - - Matthew Bower
-/., -?/. 3 - c.360C>T r.(?) p.(Ala120=) - benign, likely benign g.102510598C>T g.100750841C>T PAX2(NM_003988.4):c.360C>T (p.A120=), PAX2(NM_003988.5):c.360C>T (p.A120=) - PAX2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 - c.383_384del r.(?) p.(Thr128Serfs*52) - pathogenic g.102510621_102510622del - PAX2(NM_003988.5):c.383_384delCA (p.T128Sfs*52) - PAX2_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/+? 3 3 c.388C>T r.(?) p.(Pro130Ser) - likely pathogenic g.102510626C>T g.100750869C>T - - PAX2_000060 de novo in mother (grandpaternal allele) PubMed: Bower 2012 - - De novo, Germline - - - - - Matthew Bower
+?/+? 1 3 c.389C>A r.(?) p.(Pro130His) - likely pathogenic g.102510627C>A g.100750870C>A - - PAX2_000018 - PubMed: Miyazawa 2009 - - Germline - - - - - Matthew Bower
+?/+? 1 3 c.389C>G r.(?) p.(Pro130Arg) - likely pathogenic g.102510627C>G g.100750870C>G - - PAX2_000104 - PubMed: Galvez-Ruiz 2018 - - Germline - - - - - Matthew Bower
+/+ 1 3 c.392del r.(?) p.(Ser131Thrfs*28) - pathogenic g.102510630del g.100750873del - - PAX2_000019 - PubMed: Martinovic-Bouriel 2010 - - De novo - - - - - Matthew Bower
+?/+? 1 3 c.398C>T r.(?) p.(Ser133Phe) - likely pathogenic g.102510636C>T g.100750879C>T - - PAX2_000080 - PubMed: Barua 2014 - - Germline - - - - - Matthew Bower
+/+ 2 3 c.408del r.(?) p.(Asn136Lysfs*23) - pathogenic g.102510646del g.100750889del - - PAX2_000077 - PubMed: Hwang 2013 - - Germline - - - - - Matthew Bower
?/. 1 - c.410G>A r.(?) p.(Arg137Lys) - VUS g.102510648G>A g.100750891G>A - - PAX2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+?, ?/? 2 3i c.410+5G>A r.spl p.? - likely pathogenic, VUS g.102510653G>A g.100750896G>A - - PAX2_000023 - PubMed: Bower 2012, PubMed: Negrisolo 2011, PubMed: Bower 2012 - - Germline - - - - - Matthew Bower
-?/. 1 - c.410+16G>A r.(=) p.(=) - likely benign g.102510664G>A - PAX2(NM_003988.5):c.410+16G>A - PAX2_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.410+68A>C r.(=) p.(=) - benign g.102510716A>C g.100750959A>C PAX2(NM_003988.5):c.410+68A>C - PAX2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+, +/. 3 3i c.411-2A>G r.spl, r.spl? p.? - pathogenic g.102539253A>G g.100779496A>G PAX2(NM_003988.5):c.411-2A>G - PAX2_000061 VKGL data sharing initiative Nederland PubMed: Weber 2006 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Utrecht, Matthew Bower
?/? 1 4 c.415A>G r.(?) p.(Ile139Val) - VUS g.102539259A>G g.100779502A>G - - PAX2_000084 Patient has two variants, both predicted benign by Polyphen2 PubMed: Barua 2014 - - Germline/De novo (untested) - - - - - Matthew Bower
+?/. 3 4 c.418C>T r.(?) p.(Arg140Trp) - likely pathogenic g.102539262C>T g.100779505C>T PAX2(NM_003988.5):c.418C>T (p.R140W), PAX2(NM_003990.3):c.418C>T( p.R140W ) - PAX2_000090 variant inherited from mother with bilateral renal hypodysplasia and chronic kidney disease, 1 more item PubMed: Negrisolo 2018, PubMed: Sun 2018 - - CLASSIFICATION record, Germline, Germline/De novo (untested) ? 229 - - - VKGL-NL_Utrecht, Susanna Negrisolo
+?/+? 1 4 c.419G>A r.(?) p.(Arg140Gln) - likely pathogenic g.102539263G>A g.100779506G>A - - PAX2_000055 - PubMed: Weber 2006 - - Germline/De novo (untested) - - - - - Matthew Bower
+/. 1 - c.433C>T r.(?) p.(Gln145Ter) - pathogenic g.102539277C>T g.100779520C>T PAX2(NM_003988.5):c.433C>T (p.Q145*) - PAX2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 4 c.(?_442)_(496_?)del r.? p.? - pathogenic g.(?_102539286)_(102539340_?)del - (?_442)_(496_?)del - PAX2_000101 - PubMed: Heidet 2017 - - Germline/De novo (untested) - - - - - Matthew Bower
+/+ 1 4 c.446del r.(?) p.(Pro149Glnfs*10) - pathogenic g.102539290del g.100779533del - - PAX2_000098 - PubMed: Heidet 2017 - - Germline/De novo (untested) - - - - - Matthew Bower
+?/? 1 4 c.448A>G r.(?) p.(Thr150Ala) - likely pathogenic g.102539292A>G g.100779535A>G - - PAX2_000082 1 more item PubMed: Barua 2014 - - Germline - - - - - Matthew Bower
+/+ 1 4 c.448del r.(?) p.(Thr150Argfs*9) - pathogenic g.102539292del g.100779535del - - PAX2_000032 - PubMed: Bower 2012 - - Germline - - - - - Matthew Bower
-?/-?, -?/. 2 4 c.453G>A r.(?) p.(=), p.(Pro151=) - likely benign g.102539297G>A g.100779540G>A PAX2(NM_003988.4):c.453G>A (p.P151=) - PAX2_000065 VKGL data sharing initiative Nederland PubMed: Bower 2012 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Matthew Bower
-?/. 1 - c.453G>C r.(?) p.(Pro151=) - likely benign g.102539297G>C - PAX2(NM_003988.4):c.453G>C (p.P151=) - PAX2_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.477C>T r.(?) p.(Thr159=) - likely benign g.102539321C>T - PAX2(NM_003988.4):c.477C>T (p.T159=), PAX2(NM_003988.5):c.477C>T (p.T159=) - PAX2_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/-?, -?/. 3 4 c.478G>A r.(?) p.(Ala160Thr) - likely benign g.102539322G>A g.100779565G>A PAX2(NM_003988.4):c.478G>A (p.A160T), PAX2(NM_003988.5):c.478G>A (p.A160T) - PAX2_000067 VKGL data sharing initiative Nederland PubMed: Bower 2012 - - CLASSIFICATION record, Germline/De novo (untested) - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, Matthew Bower
-?/-?, -?/., ?/-?, ?/., ?/? 10 4 c.491C>A r.(?) p.(Thr164Asn) - likely benign, VUS g.102539335C>A g.100779578C>A PAX2(NM_003988.4):c.491C>A (p.T164N), PAX2(NM_003988.5):c.491C>A (p.T164N) - PAX2_000036 present in asymptomatic family members, VKGL data sharing initiative Nederland, 3 more items PubMed: Bower 2012 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, Matthew Bower
-?/. 1 - c.492C>T r.(?) p.(Thr164=) - likely benign g.102539336C>T - PAX2(NM_003988.4):c.492C>T (p.T164=) - PAX2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 4i c.497-1G>T r.spl p.? - likely pathogenic g.102541002G>T g.100781245G>T - - PAX2_000024 - PubMed: Thomas 2011 - - Germline - - - - - Matthew Bower
-?/-? 1 5 c.527G>C r.(?) p.(Ser176Thr) - likely benign g.102541033G>C g.100781276G>C - - PAX2_000066 - PubMed: Bower 2012 - - Germline/De novo (untested) - - - - - Matthew Bower
-?/., ?/. 2 - c.529G>A r.(?) p.(Ala177Thr) - likely benign, VUS g.102541035G>A g.100781278G>A PAX2(NM_003987.5):c.529G>A (p.A177T) - PAX2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/., ?/. 2 5 c.545T>G r.(?) p.(Val182Gly) - likely pathogenic, VUS g.102541051T>G g.100781294T>G c.545T>G - PAX2_000160 - PubMed: Zhou 2018, PubMed: Zhou-2011 - - Germline, Unknown - - - - - LOVD
+/+ 4 5 c.561del r.(?) p.(Asn188Metfs*40) - pathogenic g.102541067del g.100781310del - - PAX2_000025 de novo in father PubMed: Sanyanusin 1995 - - De novo, Germline - - - - - Matthew Bower
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