Full data view for gene PAX2

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

353 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

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     
-/. - c.-10538G>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-203A>G r.(?) p.(=) Unknown - benign g.102505815A>G g.100746058A>G - - PAX2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-160G>T r.(?) p.(=) Unknown - likely benign g.102505858G>T g.100746101G>T - - PAX2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ _1_3i c.(?_-30)_(410+1_411-1)del r.0? p.0? Unknown - pathogenic g.(?_102505988)_(102510649_102539254)del - (?_-30)_(410+?)del - PAX2_000100 - PubMed: Heidet 2017 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - kidney disease - PubMed: Heidet 2017 Patient K62 in published report - - - - - - - - 1 Matthew Bower
+/+ _1_11_ c.(?_-30)_(*220_?)del r.0? p.0? Unknown - pathogenic g.(?_102505988)_(102587660_?)del - - - PAX2_000096 - PubMed: Heidet 2017 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - kidney disease - PubMed: Heidet 2017 Patient K72 in published report - - - - - - - - 1 Matthew Bower
+/+ _1_11_ c.-550_*2258{0} r.0 p.0 Unknown - pathogenic g.(?_95210010)_(103110010_?)del g.(?_93450253)_(101350253_?)del hg18:g.(?_95,200,000)_(103,100,000_?)del 46,XX,del(10)(q23.2q24.3) PAX2_000069 genome build not reported, assumed to be hg18, deletion encompasses 90 genes including PAX2 PubMed: Benetti 2007 - - De novo - - - - - DNA arrayCGH - - kidney disease - PubMed: Benetti 2007 - F - - - - - - - 1 Matthew Bower
+/+ _1_11_ c.-550_*2258{0} r.0 p.0 Unknown - pathogenic g.(99928954_99948269)_(103741327_103757755)del g.(98169197_98188512)_(101981570_101997998)del hg18:g.(99918944_99938259)_(103731317_103747745)del - PAX2_000070 3.79 Mb deletion includes 44 genes PubMed: Hoefele 2012 - - De novo - - - - - DNA arrayCGH - - kidney disease - PubMed: Hoefele 2012 - M - - - - - - - 1 Matthew Bower
+/+ _1_11_ c.-550_*2258{0} r.0 p.0 Unknown - pathogenic g.(?_102448010)_(102688010_?)del g.(?_100688253)_(100928253_?)del hg18:g.(?_102438000)_(102678000_?)del - PAX2_000071 240kb deletion, includes PAX2 and portion FAM178A gene PubMed: Raca 2011 - - De novo - - - - - DNA arrayCGH - - kidney disease - PubMed: Laimutus 2012 - M - - - - - - - 1 Matthew Bower
+/+ _1_11_ c.-550_*2258{0} r.0 p.0 Unknown - pathogenic g.(?_102250275)_(107787788_?)del g.(?_100490518)_(106028031_?)del hg19:g.(?_102250275)_(107787788_?)del - PAX2_000102 additional 90 genes deleted along with PAX2 PubMed: Peltekova 2014 - - De novo - - - - - DNA arrayCGH - - ? - PubMed: Peltekova 2014 - - - - - - - - - 1 Matthew Bower
+/+ _1_11_ c.-550_*2258{0} r.0 p.0 Unknown - pathogenic g.(?_102020722)_(102825352 _?)del g.(?_100260965)_(101065595_?)del hg19:g.(?_102020722)_(102825352 _?)del - PAX2_000069 19 total genes in deleted segment PubMed: Pfundt 2017 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - kidney disease - PubMed: Pfundt 2017 Patient 64 in published report- no details about phenotype provided beyond enal disease - - - - - - - - 1 Matthew Bower
+/+ ? c.? r.? p.? Unknown - 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 - - - - - DNA Southern - - kidney disease - PubMed: Narahara 1997 - M - - - - - - - 1 Matthew Bower
+?/+? 1 c.5A>G r.(?) p.(Asp2Gly) Unknown - likely pathogenic g.102506022A>G g.100746265A>G - - PAX2_000086 - PubMed: Barua 2014 - - Germline/De novo (untested) - - - - - DNA SEQ - - CAKUT - PubMed: Barua 2014 Individual CKT35C in publication - - - - - - - - 1 Matthew Bower
+?/. 1 c.8T>C r.(?) p.(Met3Thr) Maternal (confirmed) ACMG VUS g.102506025T>C g.100746268T>C - - PAX2_000172 Mother is heterozygous, Father (variant not found). - - rs754968736 Germline ? - BciVI+, MslI- - - DNA SEQ-NG-I gDNA from peripheral blood whole exome sequencing PAPRS APEC-Patient 5 unpublished familial case F no Mexico - - - - none 1 Miriam Erandi Reyna-Fabián
+/+ 1i c.43+1G>C r.spl p.? Unknown - pathogenic g.102506061G>C g.100746304G>C - - PAX2_000044 - PubMed: Bower 2012 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 - - - - - - - - - 1 Matthew Bower
-?/. - c.43+3G>A r.spl? p.? Unknown - likely benign g.102506063G>A - PAX2(NM_003988.4):c.43+3G>A - PAX2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43+10G>C r.(=) p.(=) Unknown - benign g.102506070G>C g.100746313G>C PAX2(NM_003988.5):c.43+10G>C - PAX2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43+10G>C r.(=) p.(=) Unknown - benign g.102506070G>C g.100746313G>C PAX2(NM_003988.5):c.43+10G>C - PAX2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.43+10G>C r.(=) p.(=) Unknown - benign g.102506070G>C g.100746313G>C PAX2(NM_003988.5):c.43+10G>C - PAX2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.58_64dup r.(?) p.(Gln22Argfs*34) Unknown - pathogenic g.102509517_102509523dup g.100749760_100749766dup 57_58insGTGAACC - PAX2_000094 - PubMed: Okumura et al.,2015 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - kidney disease - PubMed: Okumura et al.,2015 - - - - - - - - - 1 Matthew Bower
+/+ 2 c.59del r.(?) p.(Val20Glyfs*9) Unknown - pathogenic g.102509518del g.100749761del - - PAX2_000002 somatic mosaicism PubMed: Chung 2001 - - Somatic - - - - - DNA SEQ - - kidney disease - PubMed: Chung 2001 De novo with normal Allele specific oligonucleotide test in parents. F - - - - - - - 1 Matthew Bower
+/+ 2 c.68del r.(?) p.(Leu23Profs*6) Unknown - pathogenic g.102509527del g.100749770del - - PAX2_000003 - PubMed: Cunliffe 1998 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Cunliffe 1998 Patient 985 in original published report. M - Netherlands - - - - - 1 Matthew Bower
+/+ 2 c.69del r.(?) p.(Val26Cysfs*3) Unknown - pathogenic g.102509528del g.100749771del - - PAX2_000004 - PubMed: Negrisolo 2010 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Negrisolo 2010 De novo with normal parental sequencing. F - - - - - - - 1 Matthew Bower
?/. - c.70G>C r.(?) p.(Gly24Arg) Unknown - VUS g.102509529G>C g.100749772G>C - - PAX2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.71G>A r.(?) p.(Gly24Glu) Unknown - likely pathogenic g.102509530G>A g.100749773G>A - - PAX2_000005 - PubMed: Thomas 2011 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Thomas 2011 - F - - - - - - - 1 Matthew Bower
?/. - c.73G>C r.(?) p.(Gly25Arg) Unknown - VUS g.102509532G>C g.100749775G>C - - PAX2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.74G>T r.(?) p.(Gly25Val) Unknown - likely pathogenic g.102509533G>T - - - PAX2_000045 - PubMed: Bower 2012 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 Mother of family 7; patient 1 - - - - - - - - 1 Matthew Bower
+?/+? 2 c.74G>T r.(?) p.(Gly25Val) Maternal (confirmed) - likely pathogenic g.102509533G>T - - - PAX2_000045 de novo in mother PubMed: Bower 2012 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 Child of family 7; patient 1 - - - - - - - - 1 Matthew Bower
+/+ 2 c.75_76dup r.(?) p.(Val26Glyfs*4) Unknown - pathogenic g.102509534_102509535dup g.100749777_100749778dup - - PAX2_000007 - PubMed: Amiel 2000 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Amiel 2000 Normal sequencing in mother; father unavailable for analysis. - - - - - - - - 1 Matthew Bower
+/+ 2 c.76del r.(?) p.(Val26Cysfs*3) Maternal (confirmed) - pathogenic g.102509535del g.100749778del - - PAX2_000006 de novo in mother {PMID:Schimmenti 1999} - - Germline - - - - - DNA SEQ - - kidney disease - {PMID:Schimmenti 1999} Daughter of family 8; patient 2. Patient 12961 in original published report. F - - white - - - - 1 Matthew Bower
+/+ 2 c.76del r.(?) p.(Val26Cysfs*3) Unknown - pathogenic g.102509535del g.100749778del - - PAX2_000006 - PubMed: Schimmenti 1999 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Schimmenti 1999 Mother of family 8; patient 1. Patient 12962 in original published report. F - - white - - - - 1 Matthew Bower
+/+ 2 c.76del r.(?) p.(Val26Cysfs*3) Maternal (confirmed) - pathogenic g.102509535del g.100749778del - - PAX2_000006 de novo in mother PubMed: Heidet 2017, {PMID:Schimmenti 1999} - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Heidet 2017, {PMID:Schimmenti 1999} Patient K133 in published report - - - - - - - - 1 Matthew Bower
+/. - c.76dup r.(?) p.(Val26GlyfsTer28) Unknown - pathogenic g.102509535dup g.100749778dup PAX2(NM_003987.3):c.76dup (p.(Val26GlyfsTer28)), PAX2(NM_003987.5):c.76dupG (p.V26Gfs*28) - PAX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Sanyanusin 1995 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Sanyanusin 1995 Sibling to Family 31; patient 2. Parents had normal ophthalmological exam and no renal disease; mother normal SSCP M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Sanyanusin 1995 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Sanyanusin 1995 Sibling to Family 31; patient 1. Parents had normal ophthalmological exam and no renal disease; mother normal SSCP M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Bower 2012 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 Inherited from affected father (Family 32; patient 2) M - United States - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Bower 2012 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 Father of Family32;patient 1. Apparently de novo origin for this patient. - - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Cheong 2007 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Cheong 2007 patient 3 in publication M - Korea - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Cheong 2007 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Cheong 2007 Patient 4 in publication F - Korea - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Cheong 2007 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Cheong 2007 Patient 5 in publication M - Korea - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Maternal (inferred) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Cheong 2007 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Cheong 2007 Sibling of Family 18; patient 1. Maternal germline mosaicism. Patient 1 in publication - - Korea - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Maternal (inferred) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Cheong 2007 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Cheong 2007 Sibling to Family 18; patient 1. Maternal germline mosaicism. Patient 2 in publication M - Korea - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Amiel 2000 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Amiel 2000 Patient RA in publication. - - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Paternal (inferred) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Amiel 2000 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Amiel 2000 Patient PE in publication. - - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Paternal (inferred) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Amiel 2000 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Amiel 2000 Sibling to Family 21;patients 2 &3. Paternal germline mosaicism. Patient AR-II1 in publication. - - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Paternal (inferred) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Amiel 2000 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Amiel 2000 Sibling to Family 21; Patients 1&3. Paternal germline mosaicism. Patient AR-II2 in publication. - - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Paternal (inferred) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Amiel 2000 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Amiel 2000 Sibling to family 21; patients 1 &2. Paternal germline mosaicism. Patient AR-II3 in publication. - - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Weber 2006 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Weber 2006 Sibling to Family 22;Patient 2. PAX2 mutation inherited from clinically affected father. Patient also harbored a maternally inherited p.(Asp227Tyr) variant in the SIX1 gene. Patient GDA3 in publication. F - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Weber 2006 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Weber 2006 Sibling to Family 22;Patient 2. PAX2 mutation inherited from clinically affected father. Patient also harbored a maternally inherited p.(Asp227Tyr) variant in the SIX1 gene. Patient GDA4 in publication. F - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Weber 2006 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Weber 2006 Patient PRA9 in original publication. M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Weber 2006 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Weber 2006 Patient PAR16 in original publication. De novo with normal parental testing. F - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Salomon 2001 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Salomon 2001 Patient 2 in original published report. - - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 germline mosaicism PubMed: Salomon 2001 - - Somatic - - - - - DNA SEQ - - kidney disease - PubMed: Salomon 2001 Patient 3 in original published report. de novo with normal parental sequencing. - - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Schimmenti 1997 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Schimmenti 1997 Mother of family 27;patient 2. Unknown origin. Patient 656 in original report. F - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Maternal (confirmed) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Schimmenti 1997 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Schimmenti 1997 Child of family 27;patient 1. Patient 657 in original published report. - - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Weber 2006 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Weber 2006 Father of Family 22; patients 1 and 2. Did not come to clinical attention until diagnosis in daughters. Normal ophthalmological exam. M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Schimmenti 1997 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Schimmenti 1997 Patient 2646 in original published report F - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Schimmenti 1999 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Schimmenti 1999 Patient 8691 in original report. F - United States African American - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Paternal (inferred) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 germline and somatic mosaicism PubMed: Bower 2012 - - Somatic - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 Sibling to Family 10; patient 2. Inherited from father with optic nerve coloboma. Father is mutation negative in blood, fibroblast, and oral mucosa. F - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 germline and somatic mosaicism PubMed: Bower 2012 - - Somatic - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 Sibling to Family 10; patient 1. Inherited from father with optic nerve coloboma. Father is mutation negative in blood, fibroblast, and oral mucosa. M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Bower 2012 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 de novo with normal parental sequencing. M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Bower 2012 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 de novo with normal parental sequencing. M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Bower 2012 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 De novo with normal parental sequencing. M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Tagami 2010 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Tagami 2010 - - - Japan - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Bower 2012 - - Germline - - - - - DNA SEQ - - ? - PubMed: Bower 2012 Offspring of Family 31; patient 2. - - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Maternal (inferred) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Bower 2012 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 Paternal half niece to family 31; patients 1&2. F - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Porteous 2000 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Porteous 2000 Patient X2003 in original report. M - Japan - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Beby 2010 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Beby 2010 - F - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26Glyfs*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Thomas 2011 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Thomas 2011 Noted as c.69_70insC in original manuscript. M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Paternal (confirmed) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Ford 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Ford 2001 Patient IV-7 in original published report. Child of family 84; patient 2. Male sibling had severe renal hypoplasia and olighydramnios prenatally, but not tested for mutation. M - Switzerland;United Kingdom (Great Britain) - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Paternal (confirmed) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Ford 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Ford 2001 Individual III-19 in original publication. Father of family 84; patient 1. Two pregnancies with severe oligohydramnios. Brother to family 84; patient 3. M - Switzerland;United Kingdom (Great Britain) - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Paternal (confirmed) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Ford 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Ford 2001 Individual III-21 in original publication. Sister to family 84; patient 2. F - Switzerland;United Kingdom (Great Britain) - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Ford 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Ford 2001 Individual II-3 in original publication. Father of family 84; patients 2 and 3. M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - - - - Germline - - - - - DNA SEQ - - kidney disease - - - M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Gucev 2009 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Gucev 2009 - F - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Yoshimura 2005 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Yoshimura 2005 De novo with normal parental sequencing and normal parental renal and ophthalmological exams. F - Japan - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Maternal (confirmed) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Madariaga 2013 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Madariaga 2013 Patient P1 in manuscript - - - - 0y - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Madariaga 2013 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Madariaga 2013 Mother of patient P1 in manuscript F - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Paternal (inferred) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Ohtsubo 2012 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Ohtsubo et al. 2012 Patient 1 in published manuscript F - Japan - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Paternal (inferred) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Ohtsubo 2012 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Ohtsubo 2012 Patient 2 in published manuscript- father died after 4th renal transplant. He was not tested for familial mutation. F - Japan - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Maternal (confirmed) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Sato 2013 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Sato 2013 Proband (patient III-4) in published report. F - Japan - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Maternal (confirmed) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Sato 2013 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Sato 2013 Individual III-7 in published report (younger brother of proband) M - Japan - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Maternal (inferred) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Sato 2013 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Sato 2013 Individual II-4 in the published report. Mother of proband. F - Japan - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Hwang 2013 - - Germline - - - - - DNA SEQ - - CAKUT - PubMed: Hwang 2013 Individual A3148-21 in published report M - - European - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 presumed de novo- no prior family history PubMed: Iwafuchi 2016 - - De novo - - - - - DNA SEQ - - kidney disease - PubMed: Iwafuchi 2016 Father in published report M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Paternal (confirmed) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Iwafuchi 2016 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Iwafuchi 2016 - M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Paternal (confirmed) - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Iwafuchi 2016 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Iwafuchi 2016 younger child in published report M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup NM_003987.3:69_70insG - PAX2_000001 - PubMed: Nicolaou 2016 - - Germline - - - - - DNA SEQ-NG-I - - CAKUT - PubMed: Nicolaou 2016 - M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup NM_003987.3:69_70insG - PAX2_000001 - PubMed: Nicolaou 2016 - - Germline - - - - - DNA SEQ-NG-I - - CAKUT - PubMed: Nicolaou 2016 - M - - - - - - - 1 Matthew Bower
+/+ 2 c.76dup r.(?) p.(Val26GlyFS*28) Unknown - pathogenic g.102509535dup g.100749778dup - - PAX2_000001 - PubMed: Heidet 2017 - - Germline - - - - - DNA SEQ-NG-I - - kidney disease - PubMed: Heidet 2017 Patient K148 in published report - - - - - - - - 1 Matthew Bower
+/. - c.76dup r.(?) p.(Val26GlyfsTer28) Unknown - pathogenic g.102509535dup - PAX2(NM_003987.3):c.76dup (p.(Val26GlyfsTer28)), PAX2(NM_003987.5):c.76dupG (p.V26Gfs*28) - PAX2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.92_97del r.(?) p.(Arg31_Pro32del) Unknown - likely pathogenic g.102509551_102509556del g.100749794_100749799del - - PAX2_000008 - PubMed: Weber 2006 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Weber 2006 Patient PRA1 in original published report. - - - - - - - - 1 Matthew Bower
+?/. - c.95C>G r.(?) p.(Pro32Arg) Unknown ACMG VUS g.102509554C>G - - - PAX2_000165 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - PAPRS IR_GH_0135 - - M - Korea, South (Republic) - - - - - 1 Jinu Han
-?/. - c.96C>G r.(?) p.(Pro32=) Unknown - likely benign g.102509555C>G - PAX2(NM_003988.4):c.96C>G (p.P32=) - PAX2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.97C>T r.(?) p.(Leu33=) Unknown - likely benign g.102509556C>T - PAX2(NM_003988.4):c.97C>T (p.L33=) - PAX2_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.98T>G r.(?) p.(Leu33Arg) Unknown - likely pathogenic g.102509557T>G g.100749800T>G - - PAX2_000046 - PubMed: Bower 2012 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Bower 2012 no reported family history - - - - - - - - 1 Matthew Bower
?/. - c.103G>C r.(?) p.(Asp35His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.115_120del r.(?) p.(Gln39_Arg40del) Unknown - likely pathogenic g.102509574_102509579del g.100749817_100749822del - - PAX2_000009 - PubMed: Salomon 2001 - - Germline - - - - - DNA SEQ - - kidney disease - PubMed: Salomon 2001 - - - - - - - - - 1 Matthew Bower
+/+ 2 c.119_120del r.(?) p.(Arg40Hisfs*13) Maternal (confirmed) - pathogenic g.102509578_102509579del g.100749821_100749822del - - PAX2_000092 - PubMed: Okumura 2015 - - Germline - - - - - DNA SEQ-NG-I - - kidney disease - PubMed: Okumura 2015 Case1 in published report - - - - - - - - 1 Matthew Bower
+/+ 2 c.119_120del r.(?) p.(Arg40Hisfs*13) Maternal (confirmed) - pathogenic g.102509578_102509579del g.100749821_100749822del - - PAX2_000092 - PubMed: Okumura 2015 - - Germline - - - - - DNA SEQ-NG-I - - kidney disease - PubMed: Okumura 2015 Case 2 in published report M - - - - - - - 1 Matthew Bower
+/+ 2 c.119_120del r.(?) p.(Arg40Hisfs*13) Unknown - pathogenic g.102509578_102509579del g.100749821_100749822del - - PAX2_000092 - PubMed: Okumura 2015 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - kidney disease - PubMed: Okumura 2015 Case 3 in published report F - - - - - - - 1 Matthew Bower
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »