Full data view for gene NPHS2

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

1069 entries on 11 pages. Showing entries 1 - 100.
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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     
?/? 1_8 c.? r.? p.? Maternal (inferred) - VUS g.? - - - NPHS2_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SSCA, SEQ - - NPHS Fam9 PubMed: Boute 2000 - ? ? - (Europe) - 0 - - 1 Johan den Dunnen
?/? 1_8 c.? r.? p.? Maternal (inferred) - VUS g.? - - - NPHS2_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
?/? 1_8 c.? r.? p.? Maternal (inferred) - VUS g.? - - - NPHS2_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - PubMed: Boute 2000 - ? ? - (Europe) - 0 - - 1 Johan den Dunnen
?/? 1_8 c.? r.? p.? Maternal (inferred) - VUS g.? - - - NPHS2_000000 unknown variant 2nd chromosome - - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
-/. - c.-51G>T r.(?) p.(=) Unknown - benign g.179545050C>A g.179575915C>A NPHS2(NM_014625.3):c.-51G>T - NPHS2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-51G>T r.(?) p.(=) Unknown - benign g.179545050C>A g.179575915C>A NPHS2(NM_014625.3):c.-51G>T - NPHS2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.-26G>T r.(?) p.(=) Unknown - VUS g.179545025C>A g.179575890C>A - - NPHS2_000179 - - - - Germline - - - 0 - DNA SEQ - - ATS2 - - - F - United Kingdom (Great Britain) - - 0 - - 1 Judy Savige
?/? 1 c.17G>A r.(?) p.(Arg6Gln) Unknown - VUS g.179544983C>T g.179575848C>T - - NPHS2_000165 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 1 c.28dup r.(?) p.(Arg10Lysfs*60) Parent #1 - pathogenic g.179544972dup g.179575837dup - - NPHS2_000164 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 1 c.28dup r.(?) p.(Arg10Lysfs*60) Parent #1 - pathogenic g.179544972dup g.179575837dup - - NPHS2_000164 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 1 c.29G>C r.(?) p.(Arg10Thr) Parent #1 - pathogenic g.179544971C>G g.179575836C>G - - NPHS2_000163 - Tonna et al, 2008 (BMC Nephrology) - - Germline - - - - - DNA SEQ - - NPHS2 - Tonna et al, 2008 (BMC Nephrology) - - - - - - - - - 1 Olivier Gribouval
+/? 1 c.52A>T r.(?) p.(Arg18Trp) Both (homozygous) - pathogenic g.179544948T>A g.179575813T>A - - NPHS2_000162 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 1 c.59C>T r.(?) p.(P20L) Paternal (confirmed) - pathogenic g.179544941G>A g.179575806G>A - - NPHS2_000004 not in 80 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0006 - - Germline - - - - - DNA SEQ, SSCA - - NPHS Fam15 PubMed: Boute 2000 - ? yes - (Europe) - 0 - - 1 Johan den Dunnen
+/? 1 c.59C>T r.(?) p.(P20L) Maternal (confirmed) - pathogenic g.179544941G>A g.179575806G>A - - NPHS2_000004 not in 80 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0006 - - Germline - - - - - DNA SEQ, SSCA - - NPHS Fam15 PubMed: Boute 2000 - ? yes - (Europe) - 0 - - 1 Johan den Dunnen
?/? 1 c.59C>T r.(?) p.(P20L) Unknown - VUS g.179544941G>A g.179575806G>A - - NPHS2_000004 - - - rs74315344 Germline - - - - - DNA SEQ - - Healthy/Control - - - ? no - - - - - - 1 Johan den Dunnen
-?/. - c.59C>T r.(?) p.(Pro20Leu) Unknown - likely benign 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.59C>T r.(?) p.(Pro20Leu) Unknown - likely benign g.179544941G>A - NPHS2(NM_014625.2):c.59C>T (p.(Pro20Leu)), NPHS2(NM_014625.3):c.59C>T (p.P20L) - NPHS2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.77G>T r.(?) p.(Arg26Met) Parent #2 - pathogenic g.179544923C>A g.179575788C>A - - NPHS2_000161 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 1 c.83A>T r.(?) p.(Lys28Met) Parent #2 - pathogenic g.179544917T>A g.179575782T>A - - NPHS2_000160 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
?/? 1 c.85G>A r.(?) p.(Ala29Thr) Unknown - VUS g.179544915C>T g.179575780C>T - - NPHS2_000159 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 1 c.88G>A r.(?) p.(Glu30Lys) Parent #2 - pathogenic g.179544912C>T g.179575777C>T - - NPHS2_000158 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
?/? 1 c.88G>C r.(?) p.(Glu30Gln) Unknown - VUS g.179544912C>G g.179575777C>G - - NPHS2_000157 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
-/. - c.102A>G r.(?) p.(Gly34=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.102A>G r.(?) p.(Gly34=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.102A>G r.(?) p.(Gly34=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 1 c.104dup r.(?) p.(Arg36ProfsTer34) Parent #1 - pathogenic g.179544897dup g.179575762dup 104/4insG - NPHS2_000001 not in 80 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0003 - - Germline - - - 0 - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
+/? 1 c.104dup r.(?) p.(Arg36Profs*34) Parent #1 - pathogenic g.179544897dup g.179575762dup - - NPHS2_000001 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 1 c.104dup r.(?) p.(Arg36Profs*34) Parent #1 - pathogenic g.179544897dup g.179575762dup - - NPHS2_000001 - Machuca et al, 2010 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Machuca et al, 2010 (JASN) - - - Italy - - - - - 1 Olivier Gribouval
+/? 1 c.115_116insT r.(?) p.(Gln39Leufs*31) Both (homozygous) - pathogenic g.179544884_179544885insA g.179575749_179575750insA - - NPHS2_000155 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
?/? 1 c.116A>T r.(?) p.(Gln39Leu) Unknown - VUS g.179544884T>A g.179575749T>A - - NPHS2_000156 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
?/? 1 c.124G>A r.(?) p.(Gly42Arg) Unknown - VUS g.179544876C>T g.179575741C>T - - NPHS2_000154 - He et al, 2007 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - He et al, 2007 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
-?/. - c.124G>A r.(?) p.(Gly42Arg) Unknown - likely benign g.179544876C>T - NPHS2(NM_014625.3):c.124G>A (p.G42R) - NPHS2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.132dup r.(?) p.(Pro45Alafs*25) Unknown - pathogenic g.179544868dup g.179575733dup - - NPHS2_000153 - Bakr et al, 2008 (Indian J Pediatr) - - Germline - - - - - DNA SEQ - - NPHS2 - Bakr et al, 2008 (Indian J Pediatr) - - - Egypt - - - - - 1 Olivier Gribouval
+/? 1 c.134del r.(?) p.(Pro45Argfs*54) Both (homozygous) - pathogenic g.179544867del g.179575732del - - NPHS2_000152 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - DNA SEQ - - NPHS2 - Bouchireb et al, 2013 (Hum Mutat) - - - - North Africa - - - - 1 Olivier Gribouval
+/? 1 c.137C>A r.(?) p.(Ser46*) Parent #1 - pathogenic g.179544863G>T g.179575728G>T - - NPHS2_000151 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - DNA SEQ - - NPHS2 - Bouchireb et al, 2013 (Hum Mutat) - - - France - - - - - 1 Olivier Gribouval
-?/. - c.138G>A r.(?) p.(Ser46=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 1 c.138_142dup r.(?) p.(Ser48Trpfs*53) Parent #1 - pathogenic g.179544858_179544862dup g.179575723_179575727dup - - NPHS2_000150 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - DNA SEQ - - NPHS2 - Bouchireb et al, 2013 (Hum Mutat) - - - France - - - - - 1 Olivier Gribouval
+/? 1 c.167del r.(?) p.(Glu56Glyfs*43) Both (homozygous) - pathogenic g.179544833del g.179575698del - - NPHS2_000149 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - DNA SEQ - - NPHS2 - Bouchireb et al, 2013 (Hum Mutat) - - - - North Africa - - - - 1 Olivier Gribouval
-/. - c.182C>T r.(?) p.(Ala61Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.182C>T r.(?) p.(Ala61Val) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 1 c.211C>T r.(?) p.(Arg71*) Parent #1 - pathogenic g.179544789G>A g.179575654G>A - - NPHS2_000148 - Sun et al, 2009 (Pathology) - - Germline - - - - - DNA SEQ - - NPHS2 - Sun et al, 2009 (Pathology) - - - China - - - - - 1 Olivier Gribouval
+/? 1 c.211C>T r.(?) p.(Arg71*) Both (homozygous) - pathogenic g.179544789G>A g.179575654G>A - - NPHS2_000148 - Vasudevan et al, 2012 (Indian Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Vasudevan et al, 2012 (Indian Pediatrics) - - - India - - - - - 1 Olivier Gribouval
-?/. - c.220G>A r.(?) p.(Gly74Ser) Unknown - likely benign g.179544780C>T - NPHS2(NM_014625.3):c.220G>A (p.G74S) - NPHS2_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.249del r.(?) p.(Leu84Trpfs*15) Parent #1 - pathogenic g.179544751del g.179575616del - - NPHS2_000147 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - DNA SEQ - - NPHS2 - Bouchireb et al, 2013 (Hum Mutat) - - - Italy - - - - - 1 Olivier Gribouval
?/? 1 c.259G>A r.(?) p.(Glu87Lys) Unknown - VUS g.179544741C>T g.179575606C>T - - NPHS2_000146 - Lahdenkari et al, 2005 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Lahdenkari et al, 2005 (Pediatr Nephrol) - - - Finland - - - - - 1 Olivier Gribouval
+/? 1 c.259G>T r.(?) p.(Glu87*) Unknown - pathogenic g.179544741C>A g.179575606C>A - - NPHS2_000145 - Tikhomirov et al, 2007 (Hum Genet) - - Germline - - - - - DNA SEQ - - NPHS2 - Tikhomirov et al, 2007 (Hum Genet) - - - Russian Federation - - - - - 1 Olivier Gribouval
+/? 1 c.259G>T r.(?) p.(Glu87*) Parent #1 - pathogenic g.179544741C>A g.179575606C>A - - NPHS2_000145 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 1 c.264_265del r.(?) p.(Pro89Argfs*13) Parent #1 - pathogenic g.179544735_179544736del g.179575600_179575601del - - NPHS2_000143 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
?/? 1 c.265C>A r.(?) p.(Pro89Thr) Unknown - VUS g.179544735G>T g.179575600G>T - - NPHS2_000144 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 1 c.274G>T r.(spl?) p.(?) Paternal (confirmed) - pathogenic g.179544726C>A g.179575591C>A - - NPHS2_000002 not in 80 control chromosomes {PMID10742096:Boute 2000}, OMIM:var0007 - - Germline - - - - - DNA SSCA, SEQ - - NPHS2 - {PMID10742096:Boute 2000} - ? ? - (Europe) - - - - 1 Johan den Dunnen
?/? 1 c.274G>T r.(spl?) p.(?) Unknown - VUS g.179544726C>A g.179575591C>A - - NPHS2_000002 - - - rs74315345 Germline - - - - - DNA SEQ - - Healthy/Control - - - ? no - - - - - - 1 Johan den Dunnen
+/? 1 c.274G>T r.(spl?) p.(Gly92Cys) Parent #1 - pathogenic g.179544726C>A g.179575591C>A - - NPHS2_000002 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 1 c.274G>T r.(spl?) p.(Gly92Cys) Parent #1 - pathogenic g.179544726C>A g.179575591C>A - - NPHS2_000002 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 1 c.274G>T r.(spl?) p.(Gly92Cys) Parent #1 - pathogenic g.179544726C>A g.179575591C>A - - NPHS2_000002 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 1 c.274G>T r.(spl?) p.(Gly92Cys) Parent #1 - pathogenic g.179544726C>A g.179575591C>A - - NPHS2_000002 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 1 c.274G>T r.(spl?) p.(Gly92Cys) Parent #1 - pathogenic g.179544726C>A g.179575591C>A - - NPHS2_000002 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 1 c.274G>T r.(spl?) p.(Gly92Cys) Parent #1 - pathogenic g.179544726C>A g.179575591C>A - - NPHS2_000002 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 1 c.274G>T r.(spl?) p.(Gly92Cys) Parent #1 - pathogenic g.179544726C>A g.179575591C>A - - NPHS2_000002 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+?/. 1 c.274G>T r.(?) p.(Gly92Cys) Unknown - likely pathogenic g.179544726G>T g.179575591C>A - - NPHS2_000002 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Santín et al. 2011 - - Unknown - - - 0 - DNA SEQ-NG, SEQ-NG-I - - NPHS - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - 0 - - 1 Elisabet Ars Criach
+/? 1i c.274+2T>A r.spl p.? Parent #1 - pathogenic g.179544724A>T g.179575589A>T - - NPHS2_000142 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
-/. - c.274+138G>A r.(=) p.(=) Unknown - benign g.179544588C>T g.179575453C>T NPHS2(NM_014625.3):c.274+138G>A - NPHS2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 1i c.275-1G>C r.spl p.? Both (homozygous) - pathogenic g.179533929C>G g.179564794C>G - - NPHS2_000141 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - DNA SEQ - - NPHS2 - Bouchireb et al, 2013 (Hum Mutat) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 2 c.275G>A r.(spl?) p.(Gly92Asp) Parent #1 - pathogenic g.179533928C>T g.179564793C>T - - NPHS2_000140 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 2 c.275G>A r.(spl?) p.(Gly92Asp) Parent #1 - pathogenic g.179533928C>T g.179564793C>T - - NPHS2_000140 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
-/. - c.288C>T r.(?) p.(Ser96=) Unknown - benign g.179533915G>A g.179564780G>A - - NPHS2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.289G>A r.(?) p.(Gly97Ser) Unknown - VUS g.179533914C>T g.179564779C>T - - NPHS2_000139 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - DNA SEQ - - NPHS2 - Bouchireb et al, 2013 (Hum Mutat) - - - Italy - - - - - 1 Olivier Gribouval
?/. - c.289G>A r.(?) p.(Gly97Ser) Unknown - VUS g.179533914C>T - NPHS2(NM_014625.3):c.289G>A (p.G97S) - NPHS2_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.293_294del r.(?) p.(Leu98Trpfs*4) Unknown ACMG pathogenic g.179533909_179533910del g.179564774_179564775del - - NPHS2_000193 - - - - Germline - - - 0 - DNA SEQ-NG - - NPHS DRAGoN_5 - - - - Viet Nam - - - - - 1 Kar-Hui Ng
+/? 2 c.304G>A r.(?) p.(Glu102Lys) Parent #2 - pathogenic g.179533899C>T g.179564764C>T - - NPHS2_000138 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.304G>A r.(?) p.(Glu102Lys) Parent #2 - pathogenic g.179533899C>T g.179564764C>T - - NPHS2_000138 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.320T>C r.(?) p.(Leu107Pro) Both (homozygous) - pathogenic g.179533883A>G g.179564748A>G - - NPHS2_000137 - Bouchireb et al, 2013 (Hum Mutat) - - Germline - - - - - DNA SEQ - - NPHS2 - Bouchireb et al, 2013 (Hum Mutat) - - - Morocco - - - - - 1 Olivier Gribouval
+?/? 2 c.320T>C r.(?) p.(Leu107Pro) Both (homozygous) - likely pathogenic g.179533883T>C g.179564748A>G - - NPHS2_000137 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - 0 - DNA SEQ-NG, SEQ-NG-I - - NPHS2 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - 0 - - 1 Elisabet Ars Criach
?/? 2 c.322A>G r.(?) p.(Ile108Val) Unknown - VUS g.179533881T>C g.179564746T>C - - NPHS2_000136 - Lipska et al, 2013 (J Appl Genetics) - - Germline - - - - - DNA SEQ - - NPHS2 - Lipska et al, 2013 (J Appl Genetics) - - - Poland - - - - - 1 Olivier Gribouval
+/? 2 c.344T>C r.(?) p.(Met115Thr) Parent #1 - pathogenic g.179533859A>G g.179564724A>G - - NPHS2_000135 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 2 c.344T>C r.(?) p.(Met115Thr) Both (homozygous) - pathogenic g.179533859A>G g.179564724A>G - - NPHS2_000135 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 2 c.346A>C r.(?) p.(Thr116Pro) Both (homozygous) - pathogenic g.179533857T>G g.179564722T>G - - NPHS2_000134 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - Spain - - - - - 1 Olivier Gribouval
+/? 2 c.346A>C r.(?) p.(Thr116Pro) Both (homozygous) - pathogenic g.179533857T>G g.179564722T>G - - NPHS2_000134 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.346A>C r.(?) p.(Thr116Pro) Both (homozygous) - pathogenic g.179533857T>G g.179564722T>G - - NPHS2_000134 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Santin et al, 2011 (Clin J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Parent #1 - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Both (homozygous) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Weber et al, 2004 (Kid Int) - - Germline - - - - - DNA SEQ - - NPHS2 - Weber et al, 2004 (Kid Int) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Parent #1 - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Both (homozygous) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Both (homozygous) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Ruf et al, 2004 (J Am Soc Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ruf et al, 2004 (J Am Soc Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Parent #1 - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Ekim et al, 2004 (Am J Kid Dis) - - Germline - - - - - DNA SEQ - - NPHS2 - Ekim et al, 2004 (Am J Kid Dis) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Parent #1 - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Ekim et al, 2004 (Am J Kid Dis) - - Germline - - - - - DNA SEQ - - NPHS2 - Ekim et al, 2004 (Am J Kid Dis) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Parent #1 - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Ekim et al, 2004 (Am J Kid Dis) - - Germline - - - - - DNA SEQ - - NPHS2 - Ekim et al, 2004 (Am J Kid Dis) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Parent #1 - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Ozcakar et al, 2006 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ozcakar et al, 2006 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Parent #1 - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Ozcakar et al, 2006 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ozcakar et al, 2006 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Parent #1 - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Hinkes et al, 2007 (Pediatrics) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2007 (Pediatrics) - - - Germany - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Both (homozygous) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Both (homozygous) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Both (homozygous) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Both (homozygous) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Berdeli et al, 2007 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Berdeli et al, 2007 (Pediatr Nephrol) - - - Turkey - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Both (homozygous) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Ozaltin et al, 2008 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ozaltin et al, 2008 (Pediatr Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Both (homozygous) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Ozaltin et al, 2008 (Pediatr Nephrol) - - Germline - - - - - DNA SEQ - - NPHS2 - Ozaltin et al, 2008 (Pediatr Nephrol) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Parent #1 - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Both (homozygous) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Both (homozygous) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/? 2 c.353C>T r.(?) p.(Pro118Leu) Both (homozygous) - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 - Hinkes et al, 2008 (JASN) - - Germline - - - - - DNA SEQ - - NPHS2 - Hinkes et al, 2008 (JASN) - - - - - - - - - 1 Olivier Gribouval
+/. - c.353C>T r.(?) p.(Pro118Leu) Unknown - pathogenic g.179533850G>A g.179564715G>A - - NPHS2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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