Unique variants in the NPHS2 gene

Information The variants shown are described using the NM_014625.2 transcript reference sequence.

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

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     
?/? 4 1_8 c.? r.? p.? - VUS g.? - - - NPHS2_000000 unknown variant 2nd chromosome - - - Germline - - - - - Johan den Dunnen
-/. 2 - c.-51G>T r.(?) p.(=) - benign g.179545050C>A g.179575915C>A NPHS2(NM_014625.3):c.-51G>T - NPHS2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 1 1 c.-26G>T r.(?) p.(=) - VUS g.179545025C>A g.179575890C>A - - NPHS2_000179 - - - - Germline - - - - - Judy Savige
?/? 1 1 c.17G>A r.(?) p.(Arg6Gln) - VUS g.179544983C>T g.179575848C>T - - NPHS2_000165 - Hinkes et al, 2008 (JASN) - - Germline - - - - - Olivier Gribouval
+/? 2 1 c.28dup r.(?) p.(Arg10Lysfs*60) - pathogenic g.179544972dup g.179575837dup - - NPHS2_000164 - Hinkes et al, 2008 (JASN), Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 1 1 c.29G>C r.(?) p.(Arg10Thr) - pathogenic g.179544971C>G g.179575836C>G - - NPHS2_000163 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - Olivier Gribouval
+/? 1 1 c.52A>T r.(?) p.(Arg18Trp) - pathogenic g.179544948T>A g.179575813T>A - - NPHS2_000162 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
+/?, -?/., ?/? 5 1 c.59C>T r.(?) p.(P20L), p.(Pro20Leu) - likely benign, pathogenic, VUS g.179544941G>A g.179575806G>A NPHS2(NM_014625.2):c.59C>T (p.(Pro20Leu)), NPHS2(NM_014625.3):c.59C>T (p.P20L) - NPHS2_000004 not in 80 control chromosomes, VKGL data sharing initiative Nederland {PMID10742096:Boute 2000}, OMIM:var0006 - rs74315344 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Utrecht
+/? 1 1 c.77G>T r.(?) p.(Arg26Met) - pathogenic g.179544923C>A g.179575788C>A - - NPHS2_000161 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 1 1 c.83A>T r.(?) p.(Lys28Met) - pathogenic g.179544917T>A g.179575782T>A - - NPHS2_000160 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
?/? 1 1 c.85G>A r.(?) p.(Ala29Thr) - VUS g.179544915C>T g.179575780C>T - - NPHS2_000159 - Weber et al, 2004 (Kid Int) - - Germline - - - - - Olivier Gribouval
+/? 1 1 c.88G>A r.(?) p.(Glu30Lys) - pathogenic g.179544912C>T g.179575777C>T - - NPHS2_000158 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
?/? 1 1 c.88G>C r.(?) p.(Glu30Gln) - VUS g.179544912C>G g.179575777C>G - - NPHS2_000157 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
-/. 3 - c.102A>G r.(?) p.(Gly34=) - benign g.179544898T>C g.179575763T>C NPHS2(NM_014625.3):c.102A>G (p.G34=) - NPHS2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/? 3 1 c.104dup r.(?) p.(Arg36Profs*34), p.(Arg36ProfsTer34) - pathogenic g.179544897dup g.179575762dup 104/4insG - NPHS2_000001 not in 80 control chromosomes Machuca et al, 2010 (JASN), Weber et al, 2004 (Kid Int), {PMID10742096:Boute 2000}, OMIM:var0003 - - Germline - - - - - Johan den Dunnen, Olivier Gribouval
+/? 1 1 c.115_116insT r.(?) p.(Gln39Leufs*31) - pathogenic g.179544884_179544885insA g.179575749_179575750insA - - NPHS2_000155 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
?/? 1 1 c.116A>T r.(?) p.(Gln39Leu) - VUS g.179544884T>A g.179575749T>A - - NPHS2_000156 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
-?/., ?/? 2 1 c.124G>A r.(?) p.(Gly42Arg) - likely benign, VUS g.179544876C>T g.179575741C>T NPHS2(NM_014625.3):c.124G>A (p.G42R) - NPHS2_000154 VKGL data sharing initiative Nederland He et al, 2007 (Clin J Am Soc Nephrol) - - CLASSIFICATION record, Germline - - - - - Olivier Gribouval, VKGL-NL_Utrecht
+/? 1 1 c.132dup r.(?) p.(Pro45Alafs*25) - pathogenic g.179544868dup g.179575733dup - - NPHS2_000153 - Bakr et al, 2008 (Indian J Pediatr) - - Germline - - - - - Olivier Gribouval
+/? 1 1 c.134del r.(?) p.(Pro45Argfs*54) - pathogenic g.179544867del g.179575732del - - NPHS2_000152 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - Olivier Gribouval
+/? 1 1 c.137C>A r.(?) p.(Ser46*) - pathogenic g.179544863G>T g.179575728G>T - - NPHS2_000151 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - Olivier Gribouval
-?/. 1 - c.138G>A r.(?) p.(Ser46=) - likely benign g.179544862C>T g.179575727C>T NPHS2(NM_014625.3):c.138G>A (p.S46=) - NPHS2_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 1 1 c.138_142dup r.(?) p.(Ser48Trpfs*53) - pathogenic g.179544858_179544862dup g.179575723_179575727dup - - NPHS2_000150 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - Olivier Gribouval
+/? 1 1 c.167del r.(?) p.(Glu56Glyfs*43) - pathogenic g.179544833del g.179575698del - - NPHS2_000149 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - Olivier Gribouval
-/., -?/. 2 - c.182C>T r.(?) p.(Ala61Val) - benign, likely benign g.179544818G>A g.179575683G>A NPHS2(NM_014625.3):c.182C>T (p.A61V) - NPHS2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/? 2 1 c.211C>T r.(?) p.(Arg71*) - pathogenic g.179544789G>A g.179575654G>A - - NPHS2_000148 - Sun et al, 2009 (Pathology), Vasudevan et al, 2012 (Indian Pediatrics) - - Germline - - - - - Olivier Gribouval
-?/. 1 - c.220G>A r.(?) p.(Gly74Ser) - likely benign g.179544780C>T - NPHS2(NM_014625.3):c.220G>A (p.G74S) - NPHS2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 1 1 c.249del r.(?) p.(Leu84Trpfs*15) - pathogenic g.179544751del g.179575616del - - NPHS2_000147 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - Olivier Gribouval
?/? 1 1 c.259G>A r.(?) p.(Glu87Lys) - VUS g.179544741C>T g.179575606C>T - - NPHS2_000146 - Lahdenkari et al, 2005 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 2 1 c.259G>T r.(?) p.(Glu87*) - pathogenic g.179544741C>A g.179575606C>A - - NPHS2_000145 - Hinkes et al, 2008 (JASN), Tikhomirov et al, 2007 (Hum Genet) - - Germline - - - - - Olivier Gribouval
+/? 1 1 c.264_265del r.(?) p.(Pro89Argfs*13) - pathogenic g.179544735_179544736del g.179575600_179575601del - - NPHS2_000143 - Hinkes et al, 2008 (JASN) - - Germline - - - - - Olivier Gribouval
?/? 1 1 c.265C>A r.(?) p.(Pro89Thr) - VUS g.179544735G>T g.179575600G>T - - NPHS2_000144 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
+/?, +?/., ?/? 10 1 c.274G>T r.(?), r.(spl?) p.(?), p.(Gly92Cys) - likely pathogenic, pathogenic, VUS g.179544726C>A, g.179544726G>T g.179575591C>A - - NPHS2_000002 not in 80 control chromosomes, 1 more item Santin et al, 2011 (Clin J Am Soc Nephrol), Weber et al, 2004 (Kid Int), PubMed: Santín et al. 2011, 1 more item - rs74315345 Germline, Unknown - - - - - Johan den Dunnen, Olivier Gribouval, Elisabet Ars Criach
+/? 1 1i c.274+2T>A r.spl p.? - pathogenic g.179544724A>T g.179575589A>T - - NPHS2_000142 - Hinkes et al, 2008 (JASN) - - Germline - - - - - Olivier Gribouval
-/. 1 - c.274+138G>A r.(=) p.(=) - benign g.179544588C>T g.179575453C>T NPHS2(NM_014625.3):c.274+138G>A - NPHS2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 1 1i c.275-1G>C r.spl p.? - pathogenic g.179533929C>G g.179564794C>G - - NPHS2_000141 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - Olivier Gribouval
+/? 2 2 c.275G>A r.(spl?) p.(Gly92Asp) - pathogenic g.179533928C>T g.179564793C>T - - NPHS2_000140 - Hinkes et al, 2007 (Pediatrics), Hinkes et al, 2008 (JASN) - - Germline - - - - - Olivier Gribouval
-/. 1 - c.288C>T r.(?) p.(Ser96=) - benign g.179533915G>A g.179564780G>A - - NPHS2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/., ?/? 2 2 c.289G>A r.(?) p.(Gly97Ser) - VUS g.179533914C>T g.179564779C>T NPHS2(NM_014625.3):c.289G>A (p.G97S) - NPHS2_000139 VKGL data sharing initiative Nederland Bouchireb et al, 2013 (Hum Mutat) - - CLASSIFICATION record, Germline - - - - - Olivier Gribouval, VKGL-NL_Rotterdam
+/. 1 - c.293_294del r.(?) p.(Leu98Trpfs*4) ACMG pathogenic g.179533909_179533910del g.179564774_179564775del - - NPHS2_000193 - - - - Germline - - - - - Kar-Hui Ng
+/? 2 2 c.304G>A r.(?) p.(Glu102Lys) - pathogenic g.179533899C>T g.179564764C>T - - NPHS2_000138 - Hinkes et al, 2008 (JASN), Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - Olivier Gribouval
+/?, +?/? 2 2 c.320T>C r.(?) p.(Leu107Pro) - likely pathogenic, pathogenic g.179533883A>G, g.179533883T>C g.179564748A>G - - NPHS2_000137 1 more item Bouchireb et al, 2013 (Hum Mutat), PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - - - Olivier Gribouval, Elisabet Ars Criach
?/? 1 2 c.322A>G r.(?) p.(Ile108Val) - VUS g.179533881T>C g.179564746T>C - - NPHS2_000136 - Lipska et al, 2013 (J Appl Genetics) - - Germline - - - - - Olivier Gribouval
+/? 2 2 c.344T>C r.(?) p.(Met115Thr) - pathogenic g.179533859A>G g.179564724A>G - - NPHS2_000135 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 3 2 c.346A>C r.(?) p.(Thr116Pro) - pathogenic g.179533857T>G g.179564722T>G - - NPHS2_000134 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - Olivier Gribouval
+/., +/? 22 2 c.353C>T r.(?) p.(Pro118Leu) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 VKGL data sharing initiative Nederland Berdeli et al, 2007 (Pediatr Nephrol), Ekim et al, 2004 (Am J Kid Dis), Hinkes et al, 2008 (JASN), 5 more items - - CLASSIFICATION record, Germline - - - - - Olivier Gribouval, VKGL-NL_Nijmegen
+/? 1 2 c.365G>C r.(?) p.(Trp122Ser) - pathogenic g.179533838C>G g.179564703C>G - - NPHS2_000132 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - Olivier Gribouval
?/? 1 2 c.365G>T r.(?) p.(Trp122Leu) - VUS g.179533838C>A g.179564703C>A - - NPHS2_000131 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 2 2 c.377_378insT r.(?) p.(Lys126Asnfs*7) - pathogenic g.179533825_179533826insA g.179564690_179564691insA - - NPHS2_000129 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 6 2 c.378G>C r.(spl?) p.(Lys126Asn) - pathogenic g.179533825C>G g.179564690C>G - - NPHS2_000130 - Abid et al, 2012 (Gene), Hinkes et al, 2007 (Pediatrics), Hinkes et al, 2008 (JASN), 1 more item - - Germline - - - - - Olivier Gribouval
+/? 1 2i c.378+5G>A r.spl p.? - pathogenic g.179533820C>T g.179564685C>T - - NPHS2_000128 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - Olivier Gribouval
+/? 1 2i c.379-1G>A r.spl p.? - pathogenic g.179530497C>T g.179561362C>T - - NPHS2_000127 - Hinkes et al, 2008 (JASN) - - Germline - - - - - Olivier Gribouval
+/? 1 2i c.379-1G>C r.spl p.? - pathogenic g.179530497C>G g.179561362C>G - - NPHS2_000126 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - Olivier Gribouval
+/? 1 3 c.379G>T r.(spl?) p.(Val127Phe) - pathogenic g.179530496C>A g.179561361C>A - - NPHS2_000125 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - Olivier Gribouval
+/? 2 3 c.382_384del r.(?) p.(Val128del) - pathogenic g.179530491_179530493del g.179561356_179561358del - - NPHS2_000124 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 3 3 c.385C>T r.(?) p.(Gln129*) - pathogenic g.179530490G>A g.179561355G>A - - NPHS2_000123 - El hamed et al, 2010 (NDT plus) - - Germline - - - - - Olivier Gribouval
+/? 1 3 c.395_397del r.(?) p.(Glu132_Arg133delinsGly) - pathogenic g.179530478_179530480del g.179561343_179561345del - - NPHS2_000121 - Gbadegesin et al, 2007 (Ped Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 1 3 c.397del r.(?) p.(Arg133Glufs*2) - pathogenic g.179530480del g.179561345del - - NPHS2_000122 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - Olivier Gribouval
+/? 1 3 c.399_400del r.(?) p.(Arg133Serfs*33) - pathogenic g.179530477_179530478del g.179561342_179561343del - - NPHS2_000120 - Hinkes et al, 2008 (JASN) - - Germline - - - - - Olivier Gribouval
+/?, ?/? 20 3 c.412C>T r.(?) p.(Arg138*), p.(R138*) - pathogenic, VUS g.179530463G>A g.179561328G>A - - NPHS2_000005 not in 80 control chromosomes; RNA reduced Becker-Cohen et al, 2007 (Am J Transplant), Berdeli et al, 2007 (Pediatr Nephrol), 12 more items - rs74315343 Germline - - - - - Johan den Dunnen, Olivier Gribouval
+/., +/?, +?/., ?/? 238 3 c.413G>A r.(?) p.(Arg138Gln), p.(R138Q) - likely pathogenic, pathogenic, VUS g.179530462C>T, g.179530462G>A g.179561327C>T NPHS2(NM_014625.3):c.413G>A (p.R138Q) - NPHS2_000006 not in 136 control chromosomes, VKGL data sharing initiative Nederland, 1 more item Berdeli et al, 2007 (Pediatr Nephrol), Bertelli et al, 2003 (Am J Kid Dis), Hinkes et al, 2008 (JASN), 28 more items - rs74315342 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Olivier Gribouval, Judy Savige, Elisabet Ars Criach, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+?/? 1 3 c.413G>C r.(?) p.(Arg138Pro) - likely pathogenic g.179530462G>C g.179561327C>G - - NPHS2_000166 1 more item PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - - - Elisabet Ars Criach
+/., +/? 45 3 c.419del r.(?) p.(Gly140Aspfs*41), p.(Gly140AspfsTer41) - pathogenic g.179530458del g.179561323del - - NPHS2_000003, NPHS2_000186 not in 80 control chromosomes, VKGL data sharing initiative Nederland Berdeli et al, 2007 (Pediatr Nephrol), Bertelli et al, 2003 (Am J Kid Dis), Hinkes et al, 2008 (JASN), 16 more items - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Olivier Gribouval, VKGL-NL_Nijmegen
+/? 1 3 c.436del r.(?) p.(Arg146Glufs*35) - pathogenic g.179530440del g.179561305del - - NPHS2_000119 - Koziell et al, 2002 (Hum Mol Genet) - - Germline - - - - - Olivier Gribouval
-/. 1 - c.447C>T r.(?) p.(Gly149=) - benign g.179530428G>A - - - NPHS2_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 3i c.? r.spl p.? - pathogenic g.179528895C>A - c.452+1G>T - NPHS2_000000 1 more item Hinkes et al, 2008 (JASN) - - Germline - - - - - Olivier Gribouval
+/? 1 3i c.451+2T>A r.spl p.? - pathogenic g.179530422A>T g.179561287A>T - - NPHS2_000118 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 1 3i c.451+3A>T r.spl p.? - pathogenic g.179530421T>A g.179561286T>A - - NPHS2_000117 - Kerti et al, 2013 (Ped Nephrol) - - Germline - - - - - Olivier Gribouval
+/?, -?/. 2 3i c.451+9dup r.(=), r.spl p.(=) - likely benign, pathogenic g.179530421dup g.179561286dup c.451+3insA, NPHS2(NM_014625.3):c.451+9dupA - NPHS2_000116 VKGL data sharing initiative Nederland Caridi et al, 2009 (Clin J Am Soc Nephrol) - - CLASSIFICATION record, Germline - - - - - Olivier Gribouval, VKGL-NL_Utrecht
-/. 1 - c.452-67G>A r.(=) p.(=) - benign g.179528963C>T g.179559828C>T NPHS2(NM_014625.3):c.452-67G>A - NPHS2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 1 3i c.452-2A>C r.spl p.? - pathogenic g.179528898T>G g.179559763T>G - - NPHS2_000115 - Hinkes et al, 2008 (JASN) - - Germline - - - - - Olivier Gribouval
+/? 1 3i c.452-1G>T r.spl p.? - pathogenic g.179528897C>A g.179559762C>A - - NPHS2_000114 - Hinkes et al, 2008 (JASN) - - Germline - - - - - Olivier Gribouval
+/., +/? 2 4 c.467del r.(?) p.(Leu156Cysfs*25) - pathogenic g.179528888del g.179559753del NPHS2(NM_014625.3):c.467delT (p.L156Cfs*25) - NPHS2_000112 VKGL data sharing initiative Nederland Weber et al, 2004 (Kid Int) - - CLASSIFICATION record, Germline - - - - - Olivier Gribouval, VKGL-NL_Utrecht
+/? 49 4 c.467dup r.(?) p.(Leu156Phefs*11) - pathogenic g.179528888dup g.179559753dup - - NPHS2_000113 - Berdeli et al, 2007 (Pediatr Nephrol), Bertelli et al, 2003 (Am J Kid Dis), Hinkes et al, 2008 (JASN), 15 more items - - Germline - - - - - Olivier Gribouval
?/. 1 - c.478G>T r.(?) p.(Asp160Tyr) - VUS g.179528870C>A g.179559735C>A - - NPHS2_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/?, ?/? 4 4 c.479A>G r.(?) p.(Asp160Gly), p.(D160G) - pathogenic, VUS g.179528869T>C g.179559734T>C - - NPHS2_000007 not in 80 control chromosomes Weber et al, 2004 (Kid Int), {PMID10742096:Boute 2000}, OMIM:var0008 - rs74315346 Germline - - - - - Johan den Dunnen, Olivier Gribouval
+/? 1 4 c.486C>A r.(?) p.(Tyr162*) - pathogenic g.179528862G>T g.179559727G>T - - NPHS2_000111 - Chernin et al, 2010 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 1 4 c.502C>A r.(?) p.(Arg168Ser) - pathogenic g.179528846G>T g.179559711G>T - - NPHS2_000110 - Weber et al, 2004 (Kid Int) - - Germline - - - - - Olivier Gribouval
+/? 2 4 c.502C>T r.(?) p.(Arg168Cys) - pathogenic g.179528846G>A g.179559711G>A - - NPHS2_000109 - Kitamura et al, 2008 (Kidney int), Weber et al, 2004 (Kid Int) - - Germline - - - - - Olivier Gribouval
+/? 1 4 c.503del r.(?) p.(Arg168Leufs*13) - pathogenic g.179528845del g.179559710del - - NPHS2_000108 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 27 4 c.503G>A r.(?) p.(Arg168His) - pathogenic g.179528845C>T g.179559710C>T - - NPHS2_000107 - Berdeli et al, 2007 (Pediatr Nephrol), Buscher et al, 2010 (Clin J Am Soc Nephrol), 10 more items - - Germline - - - - - Olivier Gribouval
+/., +/?, +?/. 15 4 c.506T>C r.(?) p.(Leu169Pro) - likely pathogenic, pathogenic g.179528842A>G, g.179528842T>C g.179559707A>G NPHS2(NM_014625.3):c.506T>C (p.L169P) - NPHS2_000106 VKGL data sharing initiative Nederland, 1 more item Berdeli et al, 2007 (Pediatr Nephrol), Caridi el al, 2007 (Nephrol Dial Transplant), 8 more items - - CLASSIFICATION record, Germline, Unknown - - - - - Olivier Gribouval, Elisabet Ars Criach, VKGL-NL_Utrecht
+/? 1 4 c.514C>G r.(?) p.(Leu172Val) - pathogenic g.179528834G>C g.179559699G>C - - NPHS2_000105 - Weber et al, 2004 (Kid Int) - - Germline - - - - - Olivier Gribouval
+/? 1 4 c.522_524delinsTGT r.(?) p.(Pro175Val) - pathogenic g.179528824_179528826delinsACA g.179559689_179559691delinsACA - - NPHS2_000104 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - Olivier Gribouval
+/? 1 4i c.534+1G>T r.spl p.? - pathogenic g.179528813C>A g.179559678C>A - - NPHS2_000103 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - Olivier Gribouval
-/. 1 - c.535-128T>A r.(=) p.(=) - benign g.179526493A>T g.179557358A>T NPHS2(NM_014625.3):c.535-128T>A - NPHS2_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 3 4i c.535-1G>T r.spl p.? - pathogenic g.179526366C>A g.179557231C>A - - NPHS2_000102 - Hocker et al, 2006 (Pediatr Nephrol), Karle et al, 2002 (J Am Soc Nephrol), 1 more item - - Germline - - - - - Olivier Gribouval
+/?, ?/? 33 5 c.538G>A r.(?) p.(V180M), p.(Val180Met) - pathogenic, VUS g.179526362C>T g.179557227C>T - - NPHS2_000008 not in 80 control chromosomes Berdeli et al, 2007 (Pediatr Nephrol), Bertelli et al, 2003 (Am J Kid Dis), Hinkes et al, 2008 (JASN), 13 more items - rs74315347 Germline - - - - - Johan den Dunnen, Olivier Gribouval
+/?, ?/. 2 5 c.547G>T r.(?) p.(Asp183Tyr) - pathogenic, VUS g.179526353C>A g.179557218C>A - - NPHS2_000101 VKGL data sharing initiative Nederland Bouchireb et al, 2013 (Hum Mutat) - - CLASSIFICATION record, Germline - - - - - Olivier Gribouval, VKGL-NL_Nijmegen
+/? 4 5 c.555del r.(?) p.(Phe185Leufs*2) - pathogenic g.179526347del g.179557212del - - NPHS2_000100 - Bertelli et al, 2003 (Am J Kid Dis), Caridi et al, 2003 (Clin J Am Soc Nephrol), 2 more items - - Germline - - - - - Olivier Gribouval
+/? 2 5 c.556A>C r.(?) p.(Ile186Leu) - pathogenic g.179526344T>G g.179557209T>G - - NPHS2_000099 - Bakr et al, 2008 (Indian J Pediatr) - - Germline - - - - - Olivier Gribouval
+/? 1 5 c.557_560del r.(?) p.(Ile186Argfs*3) - pathogenic g.179526340_179526343del g.179557205_179557208del - - NPHS2_000098 - Sharma et al, 2008 (Genomic Med) - - Germline - - - - - Olivier Gribouval
+/? 1 5 c.561G>A r.(?) p.(Met187Ile) - pathogenic g.179526339C>T g.179557204C>T - - NPHS2_000097 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 1 5 c.564G>T r.(?) p.(Glu188Asp) - pathogenic g.179526336C>A g.179557201C>A - - NPHS2_000096 - Mao et al, 2006 (Pediatr Res) - - Germline - - - - - Olivier Gribouval
+/? 3 5 c.574A>G r.(?) p.(Ile192Val) - pathogenic g.179526326T>C g.179557191T>C - - NPHS2_000095 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
+/? 5 5 c.587G>C r.(?) p.(Arg196Pro) - pathogenic g.179526313C>G g.179557178C>G - - NPHS2_000094 - Hinkes et al, 2008 (JASN), Karle et al, 2002 (J Am Soc Nephrol), Ruf et al, 2004 (J Am Soc Nephrol), 1 more item - - Germline - - - - - Olivier Gribouval
+/? 4 5 c.593A>C r.(?) p.(Glu198Ala) - pathogenic g.179526307T>G g.179557172T>G - - NPHS2_000093 - Buscher et al, 2010 (Clin J Am Soc Nephrol), Hinkes et al, 2008 (JASN) - - Germline - - - - - Olivier Gribouval
?/? 1 5 c.608T>C r.(?) p.(Leu203Pro) - VUS g.179526292A>G g.179557157A>G - - NPHS2_000092 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - Olivier Gribouval
?/? 2 5 c.617G>T r.(?) p.(Ser206Ile) - VUS g.179526283C>A g.179557148C>A - - NPHS2_000091 - Mao et al, 2006 (Pediatr Res) - - Germline - - - - - Olivier Gribouval
+/? 1 5 c.619C>A r.(?) p.(Leu207Ile) - pathogenic g.179526281G>T g.179557146G>T - - NPHS2_000090 - Jungraithmayr et al, 2011 (JASN) - - Germline - - - - - Olivier Gribouval
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »