LOVD - Variant listings for PAX2

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- 46,XY,t(10;13)(q24.3q12.3) - - ? PAX2_00043 Translocation breakpoint believed to localize to intron 3 or 4 by Southern blot RFLP analysis de novo Narahara et al., 1997 DNA ? - -
1_11 c.(-550-?_*2258+?del)
  (Reported 3 times)
chr10.hg18:g.(?_95,200,000)_(103,100,000_?)del - p.(0) PAX2_00069 Identified by aCGH. Human genome build not reported, but assumed to be hg18. de novo Benetti et al., 2007 DNA arrayCGH - -
1 c.5A>G - - p.(Asp2Gly) PAX2_00086 - - Barua et al., 2014 DNA SEQ - -
1i c.43+1G>C - - Intron 1 splice donor PAX2_00044 - de novo Bower et al., 2012 DNA SEQ - -
2 c.58_64dup c.57_58insGTGAACC - p.(Gln22Argfs*34) PAX2_00094 - - - DNA SEQ-NG-I - 1
2 c.59del - - p.(Val20Glyfs*9) PAX2_00002 - de novo, somatic mosaicism Chung et al., 2001 DNA SEQ - -
2 c.68del - - p.(Leu23Profs*6) PAX2_00003 - ? (unknown) Cunliffe et al., 1998 DNA SEQ - -
2 c.69del - - p.(Val26Cysfs*3) PAX2_00004 - de novo Negrisolo et al., 2010 DNA SEQ - -
2 c.71G>A - - p.(Gly24Glu) PAX2_00005 - ? (unknown) Thomas et al., 2011 DNA SEQ - -
2 c.74 G>T
  (Reported 2 times)
- - p.(Gly25Val) PAX2_00045 - de novo Bower et al., 2012 DNA SEQ - -
2 c.75_76dup - - p.(Val26Glyfs*4) PAX2_00007 - de novo Amiel et al., 2000 DNA SEQ - -
2 c.76del
  (Reported 2 times)
- - p.(Val26Cysfs*3) PAX2_00006 - de novo, in mother Schimmenti et al., 1999 DNA SEQ - -
2 c.76dup
  (Reported 56 times)
- - p.(Val26GlyFS*28) PAX2_00001 - ? (unknown) - - - - -
2 c.92_97del - - p.(Arg31_Pro32del) PAX2_00008 - ? (unknown) Weber et al., 2006 DNA SEQ - -
2 c.98T>G - - p.(Leu33Arg) PAX2_00046 - ? (unknown) Bower et al., 2012 DNA SEQ - -
2 c.115_120del - - p.(Gln39_Arg40del) PAX2_00009 - ? (unknown) Salomon et al., 2001 DNA SEQ - -
2 c.119_120del
  (Reported 5 times)
- - p.(Arg40Hisfs*13) PAX2_00092 - - - DNA SEQ-NG-I - -
2 c.129_150del - - p.(Glu43Aspfs*33) PAX2_00010 - de novo Schimmenti et al., 1997 DNA SEQ - -
2 c.139_148del
  (Reported 6 times)
- - p.(Gln47Glyfs*33) PAX2_00011 - de novo Fletcher et al., 2005 DNA SEQ - -
2 c.155G>A
  (Reported 2 times)
- - p.(Cys52Tyr) PAX2_00068 - de novo Iatropoulos et al., 2012 DNA SEQ - -
2 c.167G>A - - p.(Arg56Gln) PAX2_00081 - ? (unknown) Barua et al., 2014 DNA SEQ - -
2 c.182G>A
  (Reported 2 times)
- - p.(Ser61Asn) PAX2_00064 - familial, autosomal dominant Bower et al., 2012 DNA SEQ - -
2 c.182G>T - - p.(Ser61Ile) PAX2_00047 - ? (unknown) Bower et al., 2012 DNA SEQ - -
2 c.184_198del - - p.(His62_Ser66del) PAX2_00048 - ? (unknown) Bower et al., 2012 DNA SEQ - -
2 c.187G>A - - p.(Gly63Ser) PAX2_00093 - - Okumura et al.,2015 DNA SEQ-NG-I - 1
2 c.206T>C
  (Reported 3 times)
- - p.(Leu69Pro) PAX2_00031 - familial, autosomal dominant Bower et al., 2012 DNA SEQ - -
2 c.211A>G - - p.(Arg71Gly) PAX2_00075 - - Hwang et al., 2013 DNA SEQ - -
2 c.212G>C
  (Reported 4 times)
- - p.(Arg71Thr) PAX2_00056 - de novo, in mother Higashide et al., 2005 DNA SEQ - -
2 c.223_224dup - - p.(Gly76Profs*8) PAX2_00095 - - - DNA SEQ-NG-I - mbower
2 c.239C>T - - p.(Pro80Leu) PAX2_00078 Maternal half sister and maternal grandmother reported to have renal disease, but not tested. ? (unknown) Barua et al., 2014 DNA SEQ - -
3 c.219C>G
  (Reported 3 times)
- - p.(Tyr73*) PAX2_00057 - familial, autosomal dominant Bower et al., 2012 DNA SEQ - -
3 c.221_226dup - - p.(Glu74_Thr75dup) PAX2_00013 - de novo DeVriendt et al., 1998 DNA SEQ - -
3 c.223_225dup
  (Reported 12 times)
- - p.(Thr75dup) PAX2_00054 - familial, autosomal dominant Bower et al., 2012 DNA SEQ - -
3 c.226 G>A
  (Reported 6 times)
- - p.(Gly76Ser) PAX2_00014 - familial, autosomal dominant Devriendt et al., 1998 DNA SEQ - 1
3 c.228_251dup
  (Reported 3 times)
- - p.(Ser77_Gly84dup) PAX2_00052 - ? (unknown) Bower et al., 2012 DNA SEQ - -
3 c.250G>A
  (Reported 6 times)
- - p.(Gly84Ser) PAX2_00034 - familial, autosomal dominant Bower et al., 2012 DNA SEQ - -
3 c.289del
  (Reported 2 times)
- - p.(Asp97Thrfs*62) PAX2_00015 - de novo, in father Amiel et al., 2000 DNA SEQ - -
3 c.310C>T
  (Reported 5 times)
- - p.(Arg104*) PAX2_00016 - de novo Cheong et al., 2007 Samimi et al., 2008 DNA SEQ - -
3 c.320C>T - - p.(Pro107Leu) PAX2_00076 - - Hwang et al., 2013 DNA SEQ - -
3 c.331G>A
  (Reported 9 times)
- - p.(Ala111Thr) PAX2_00058 - familial, autosomal dominant Sellick et al., 2004 Bower et al., 2012 DNA SEQ - -
3 c.343C>T
  (Reported 6 times)
- - p.(Arg115*) PAX2_00059 - ? (unknown) Schimmenti et al., 2003 Bower et al., 2012 DNA SEQ - -
3 c.350G>C
  (Reported 2 times)
- - p.(Arg117Pro) PAX2_00050 Father is mosaic de novo, in father Bower et al., 2012 Madariaga 2013 DNA SEQ - -
3 c.388C>T
  (Reported 3 times)
- - p.(Pro130Ser) PAX2_00060 - de novo, in patient (paternal allele) Bower et al., 2012 DNA SEQ - -
3 c.389C>A - - p.(Pro130His) PAX2_00018 - ? (unknown) Miyazawa et al., 2009 DNA SEQ - -
3 c.392del - - p.(Ser131Thrfs*28) PAX2_00019 - de novo Martinovic-Bouriel et al., 2010 DNA SEQ - -
3 c.398C>T - - p.(Ser133Phe) PAX2_00080 - ? (unknown) Barua et al., 2014 DNA SEQ - -
3 c.408del
  (Reported 2 times)
- - p.(Asn136Lysfs*23) PAX2_00077 - ? (unknown) Hwang et al., 2013 DNA SEQ - -
3i c.410+5G>A
  (Reported 2 times)
- - Intron 3 splice donor PAX2_00023 - ? (unknown) Negrisolo et al., 2011 Bower et al., 2012 DNA SEQ - mbower
3i c.411-2A>G
  (Reported 2 times)
- - Intron 3 splice acceptor PAX2_00061 - familial, autosomal dominant Weber et al., 2006 DNA SEQ - -
4 c.415A>G - - p.(Ile139Val) PAX2_00084 Patient has two variants, both predicted benign by Polyphen2 - Barua et al., 2014 DNA SEQ - -
4 c.418C>T - - p.(Arg140Trp) PAX2_00090 Inherited from mother with bilateral renal hypodysplasia and chronic kidney disease - - DNA SEQ - -
4 c.419G>A - - p.(Arg140Gln) PAX2_00055 - - Weber et al., 2006 DNA SEQ - -
4 c.448A>G - - p.(Thr150Ala) PAX2_00082 Predicted benign by in silico models. Segregation analyses was not reported to be done in publication. familial, autosomal dominant Barua et al., 2014 DNA SEQ - -
4 c.448del - - p.(Thr150Argfs*9) PAX2_00032 - ? (unknown) Bower et al., 2012 DNA SEQ - -
4 c.453G>A - - p.(=) PAX2_00065 - ? (unknown) Bower et al., 2012 DNA SEQ - -
4 c.478G>A - - p.(Ala160Thr) PAX2_00067 - - Bower et al., 2012 DNA SEQ - -
4 c.491C>A
  (Reported 8 times)
- - p.(Thr164Asn) PAX2_00036 - familial Bower et al., 2012 DNA SEQ - -
4i c.497-1G>T - - Intron 4 splice acceptor PAX2_00024 - ? (unknown) Thomas et al., 2011 DNA SEQ - -
5 c.527G>C - - p.(Ser176Thr) PAX2_00066 - - Bower et al., 2012 DNA SEQ - -
5 c.561del
  (Reported 4 times)
- - p.(Asn188Metfs*40) PAX2_00025 - de novo, in father Sanayusin et al., 1995 DNA SEQ - -
5 c.565G>A
  (Reported 5 times)
- - p.(Gly189Arg) PAX2_00079 - familial, autosomal dominant Barua et al., 2014 DNA SEQ-NG-I - -
5 c.567_568dup pub as p.(Ile190Argfs*85) - p.(Ile190Argfs*39) PAX2_00074 Patient's father died from renal failure and had colobomas. Paternal uncle and grandfather also reported with findings consistent with RCS. familial, autosomal dominant Megawa 2013 DNA SEQ - -
7 c.701C>G - - p.(Ser234*) PAX2_00033 - ? (unknown) Bower et al., 2012 DNA SEQ - -
7 c.752T>A - - p.(Leu251*) PAX2_00091 - - - DNA SEQ-NG-I - 1
7 c.754C>T
  (Reported 16 times)
- - p.(Arg252*) PAX2_00062 - ? (unknown) Porteous et al., 2000 Bower et al., 2012 DNA SEQ - -
7 c.772C>T
  (Reported 2 times)
- - p.(Gln258*) PAX2_00063 - familial, autosomal dominant Bower et al., 2012 DNA SEQ - -
7 c.775C>T - - p.(Gln259*) PAX2_00027 - de novo Nishimoto et al., 2001 DNA SEQ - -
7 c.835del - - p.(Ala279Hisfs*18) PAX2_00038 - ? (unknown) Bower et al., 2012 DNA SEQ - -
7i c.861+1G>A
  (Reported 2 times)
- - - PAX2_00072 - familial, autosomal dominant Madariaga 2013 DNA SEQ - -
7i c.861+1G>C
  (Reported 2 times)
- - Intron 7 splice donor site. PAX2_00049 - de novo, in mother Bower et al., 2012 DNA SEQ - -
7i c.861+2T>C
  (Reported 3 times)
- - intron 7 splice donor site PAX2_00030 - familial, autosomal dominant Martinovic-Bouriel et al., 2010 DNA SEQ - -
8 c.884C>T - - p.(Ala295Val) PAX2_00088 - de novo Barua et al., 2014 DNA SEQ - -
8 c.887T>C
  (Reported 2 times)
- - p.(Leu296Pro) PAX2_00083 - de novo Barua et al., 2014 DNA SEQ - -
8 c.892C>T - - p.(Pro298Ser) PAX2_00087 - de novo Barua et al., 2014 DNA SEQ - -
8 c.894delinsGC - - p.(Gly299Argfs*3) PAX2_00039 - de novo Bower et al., 2012 DNA SEQ - -
8 c.912del
  (Reported 5 times)
- - p.(Lys304Asnfs*25) PAX2_00029 - de novo Taranta et al., 2007 DNA SEQ - -
8 c.975 C>A - - p.(Tyr325*) PAX2_00040 - de novo Bower et al., 2012 DNA SEQ - -
8 c.985A>G - - p.(Thr329Ala) PAX2_00085 Two variants found in patient, both predicted benign by Polyphen2 - Barua et al., 2014 DNA SEQ - -
9 c.1023 C>A
  (Reported 3 times)
- - p.(Tyr341*) PAX2_00028 - de novo, in mother Nishimoto et al., 2001 DNA SEQ - -
10 NG_008680.1(PAX2_v001):c.1090+233A>T NM_03998.3:c.1102A>T (p.(Thre368Ser) - p.(Thr368Ser) PAX2_00051 This exon is not included in reference transcript. Amino acid change in published field is NM_03998.3:c.1102A>T (p.(Thre368Ser) ? (unknown) Bower et al., 2012 DNA SEQ - -
11 c.1160G>A - - p.(Ser387Asn) PAX2_00041 - ? (unknown) Bower et al., 2012 DNA SEQ - -
11 c.1218T>C c.1240T>C in NM_003987 (p.Tyr414His) - p.(=) PAX2_00089 HG19 contains 3bp of DNA not present in NM_03990.3 or NM_03987.3. Thus, there is one codon difference between published report and LSDB. This variant is a missense variant in NM_03987 but silent in NM_03990 - Barua et al., 2014 DNA SEQ - -
11 c.1284C>G - - p.(Ile428Met) PAX2_00073 Variant is in final (12th) exon of genomic DNA. This is exon 11 of NM_03990 ? (unknown) Madariaga 2013 DNA SEQ - -
1 - 83

Legend: [ PAX2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon/Intron numbering. DNA change: DNA change Var_pub_as: Variant published as RNA change: RNA change Protein: Protein change PAX2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks Variant origin: Variant origin Reference: Reference = publication describing variant submitted, incl. links to OMIM and dbSNP (when available); format {PMID[1]:[2]} (where [1] = PubMedID, [2] = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346". NOTE: not the reference to another report describing this variant. Template: Template Technique: Technique Frequency: Frequency if variant is non pathogenic. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site.