Unique variants in gene NPHS1

Information The variants shown are described using the NM_004646.3 transcript reference sequence.

188 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 00 c.-475_-468delGAGAGAGA - r.? p.? g.36343207_36343214delTCTCTCTC g.35852305_35852312delTCTCTCTC promoter, nt-489(del(GA)4) - NPHS1_000012 1 North American CNF family (hom) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
?/? 1 00 c.-469_-468delGA - r.? p.? g.36343207_36343208delTC g.35852305_35852306delTC promoter, nt-489(delGA) - NPHS1_000011 1 North African CNF family (hom) PubMed: Lenkkeri at al. 1999 - rs139954720 SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 00 c.-340G>C - r.? p.? g.36343079C>G g.35852177C>G nt340 (G→C): Promoter change - NPHS1_000010 2 English CNF patients (com-het) PubMed: Koziell et al. 2002 - rs1137844 SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.-61G>A benign r.(=) p.(=) g.36342800C>T - NPHS1:c.-61G>A - NPHS1_000172 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
./. 1 - c.? - r.? p.? g.? - c.3426A>G; p.T1182A - NPHS1_000138 1 more item PubMed: Abid et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.17C>T benign r.(?) p.(Thr6Met) g.36342723G>A - NPHS1:c.17C>T (T6M) - NPHS1_000171 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/+? 1 i01 c.58+1G>T - r.spl? p.? g.36342681C>A g.35851779C>A c.58+1G>T: Splice error - NPHS1_000013 1 Indian CNF family (com-het) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
-/. 2 - c.59-5C>G benign r.spl? p.? g.36342579G>C - NPHS1:c.59-5C>G, NPHS1:NM_004646.3:c.59-5C>G (?) - NPHS1_000170 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/+ 1 - c.106delG - r.(?) p.(Ala36Profs*6) g.36342527delC g.35851625delC - - NPHS1_000145 1 African patient (com-het) with probable CNF PubMed: Sabi et al. 2013 - - SUMMARY record yes - - - - Anne Polvi
+/. 2 - c.121_122del pathogenic r.(?) p.(Leu41Aspfs*50) g.36342511_36342512del - NPHS1:NM_004646.3:c.121_122del (Leu41fs), NPHS1:c.121_122delCT (L41Dfs*50) - NPHS1_000169 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Groningen
+/+ 1 02 c.121_122delCT - r.(121_122delcu) p.(Leu41Aspfs*50) g.36342511_36342512delAG g.35851609_35851610delAG 1 more item - NPHS1_000014 1 more item PubMed: Kestila et al. 1998,PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 1/83 FIN CON (h - - - Anne Polvi
+/+ 1 02 c.139delG - r.(139delg) p.(Ala47Profs*81) g.36342494delC g.35851592delC Ex2, c.139delG(h) = E46fsX127 - NPHS1_000015 3 Hispanic (com-het) and 1 African American (hom) CNF patient PubMed: Heeringa et al. 2008, PubMed: Ovunc et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+?/. 1 - c.162_176del likely pathogenic r.(?) p.(Val55_Gly59del) g.36342457_36342471del - NPHS1:NM_004646.3:c.162_176del (Val55del) - NPHS1_000192 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 02 c.191G>C - r.(191g>c) p.(Trp64Ser) g.36342442C>G g.35851540C>G exon 2 nt191(G>C): Trp64>Ser - NPHS1_000016 1 Finnish CNF family (com-het) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
+/+ 1 02 c.248dupA - r.(248dupa) p.(Tyr83*) g.36342385dup g.35851483dupT 1 more item - NPHS1_000017 1 Italian CNF family PubMed: Gigante et al. 2005 - - SUMMARY record yes 0/50 CON - - - Anne Polvi
?/. 1 - c.274+3A>T VUS r.spl? p.? g.36342356T>A - NPHS1:NM_004646.3:c.274+3A>T (?) - NPHS1_000191 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 03 c.286C>G - r.(286c>g) p.(Leu96Val) g.36342275G>C g.35851373G>C c.286C>G: p.L96V - NPHS1_000018 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - - SUMMARY record yes 0/94 CON - - - Anne Polvi
-/. 1 - c.294C>T benign r.(=) p.(=) g.36342267G>A - NPHS1:NM_004646.3:c.294C>T (=) - NPHS1_000190 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 03 c.313G>A - r.(313g>a) p.(Asp105Asn) g.36342248C>T g.35851346C>T 313G>A: D105N - NPHS1_000019 2 Japanese CNF patients (com-het) PubMed: Sako et al. 2005 - - SUMMARY record yes 0/200 JAP CON - - - Anne Polvi
+?/+? 1 03 c.319G>A - r.(319g>a) p.(Ala107Thr) g.36342242C>T g.35851340C>T c.319G>A: p.A107T - NPHS1_000020 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - - SUMMARY record yes 0/94 CON - - - Anne Polvi
?/? 1 03 c.320C>T - r.(320c>u) p.(Ala107Val) g.36342241G>A g.35851339G>A c.C320T: p.A107V - NPHS1_000021 2 Indian CNF patients (1 com-het and 1 het) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
?/., -/. 39 - c.349G>A benign r.(?) p.(Glu117Lys) g.36342212C>T g.35851310C>T NPHS1:c.349G>A (E117K), NPHS1:NM_004646:c.349G>A (Glu117Lys) - NPHS1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - Germline, CLASSIFICATION record - - - - - Gerard C.P. Schaafsma, VKGL-NL_Utrecht, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 3 c.361G>A - r.(?) p.(Glu121Lys) g.36342200C>T g.35851298C>T - - NPHS1_000147 - PubMed: Santín et al. 2009 - - Germline - - - - - Elisabet Ars Criach
-/. 1 - c.397+15C>T benign r.(=) p.(=) g.36342149G>A - NPHS1:c.397+15C>T - NPHS1_000168 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/+? 1 i03 c.398-1G>A - r.spl? p.? g.36341992C>T g.35851090C>T 275–1G>A(h) = splice site - NPHS1_000022 1 European CNF patient (com-het) PubMed: Heeringa et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
+/+, +/. 3 04 c.468C>G pathogenic r.(468c>g), r.(?) p.(Tyr156*) g.36341921G>C g.35851019G>C 468C>G: Y156X, NPHS1:NM_004646.2:c.468C>G (Tyr156*) - NPHS1_000023 CNF patients with non specified number and origin., 1 more item PubMed: Beltcheva et al. 2001, PubMed: Philippe et al. 2008, 1 more item - - SUMMARY record, Germline, CLASSIFICATION record yes - - - - Anne Polvi, Elisabet Ars Criach, VKGL-NL_Nijmegen
+?/+? 1 04 c.479G>C - r.(479g>c) p.(Cys160Ser) g.36341910C>G g.35851008C>G 479G>C: Cys160Ser - NPHS1_000024 1 Japanese CNF family (com-het) PubMed: Aya et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 04 c.500C>T - r.(500c>u) p.(Pro167Leu) g.36341889G>A g.35850987G>A c.C500T: p.P167L - NPHS1_000025 1 Indian CNF family (hom) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 04 c.512T>A - r.(512u>a) p.(Ile171Asn) g.36341877A>T g.35850975A>T exon 4 nt512(T>A): Ile171>Asn - NPHS1_000026 1 Turkish CNF family (hom) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/., +/. 2 4 c.515_517del likely pathogenic r.(?) p.(Thr172del) g.36341872_36341874del g.35850970_35850972del NPHS1:NM_004646.3:c.515_517del (Thr172del) - NPHS1_000146 VKGL data sharing initiative Nederland; correct HGVS to be checked PubMed: Santín et al. 2011 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, Elisabet Ars Criach
+?/+? 1 04 c.515_517delCCA - r.(515_517delcca) p.(Thr172del) g.36341872_36341874delTGG g.35850970_35850972delTGG nt514(delACC): delT172; 513-5delCAC: del172T; c.514_516delACC: p.T172del - NPHS1_000027 1 more item 1 more item - - SUMMARY record yes 0/93 CON - - - Anne Polvi
+/+ 1 04 c.516delC - r.(516delc) p.(Ile173Phefs*3) g.36341873delG g.35850971delG c.516delC: p.T712fs175X - NPHS1_000028 2 CNF patients (com-het) PubMed: Philippe et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 04 c.518T>A - r.(518u>a) p.(Ile173Asn) g.36341871A>T g.35850969A>T exon 4 nt518(T>A): Ile173>Asn - NPHS1_000029 1 French CNF family (com-het) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 i04 c.526+5G>C - r.spl? p.? g.36341858C>G g.35850956C>G intron 4, nt526+5(G>C): Splice-site mutation - NPHS1_000030 1 Swedish CNF family (com-het) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
-/. 1 - c.526+83C>T benign r.(=) p.(=) g.36341780G>A - NPHS1:c.526+83C>T - NPHS1_000167 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 05 c.532C>T - r.(532c>u) p.(Gln178*) g.36341342G>A g.35850440G>A 532C>T: Q178X - NPHS1_000031 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 05 c.534delG - r.(534delg) p.(Thr179Glnfs*9) g.36341340delC g.35850438delC exon 5, nt534(delG): frameshift and trunc. 180-res. protein - NPHS1_000032 1 North American CNF family (com-het) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
-/. 1 - c.563A>T benign r.(?) p.(Asn188Ile) g.36341311T>A - NPHS1:c.563A>T (N188I) - NPHS1_000166 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 05 c.574C>T - r.(574c>u) p.(Gln192*) g.36341300G>A g.35850398G>A c.C574T: p.Q193X - NPHS1_000033 1 Arabic CNF patient (com-het) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 i05 c.609-2A>C - r.spl? p.? g.36340557T>G g.35849655T>G c.609-2A>C - NPHS1_000034 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 06 c.614_621delCACCCCGGinsTT - r.(614_621delcaccccgginsuu) p.(Thr205_Arg207delinsIle) g.36340543_36340550delinsAA g.35849641_35849648delinsAA 1 more item - NPHS1_000035 1 more item 1 more item - - SUMMARY record yes 0/93 CON - - - Anne Polvi
+/. 1 - c.644T>G pathogenic r.(?) p.(Leu215Arg) g.36340520A>C - NPHS1:NM_004646.2:c.644T>G (Leu215Arg) - NPHS1_000189 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.658T>G VUS r.(?) p.(Ser220Ala) g.36340506A>C g.35849604A>C NPHS1:NM_004646.3:c.658T>G (Ser220Ala) - NPHS1_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - Germline, CLASSIFICATION record - - - - - Gerard C.P. Schaafsma, VKGL-NL_Nijmegen
+/+ 1 06 c.661_662delAG - r.(661_662delag) p.(Ser221Profs*31) g.36340502_36340503delCT g.35849600_35849601delCT nt661 (delAG): Frameshift and truncation - NPHS1_000036 1 English CNF patient (com-het) PubMed: Koziell et al. 2002 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 06 c.692C>A - r.(692c>a) p.(Ser231*) g.36340472G>T g.35849570G>T 692C>A: S231X - NPHS1_000037 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 07 c.710T>C - r.(?) p.(Leu237Pro) g.36340454A>G g.35849552A>G - - NPHS1_000136 1 early onset nephrotic syndrome patient from Pakistan (com-het) PubMed: Abid et al. 2012 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 07 c.736G>T - r.(736g>u) p.(Glu246*) g.36340242C>A g.35849340C>A 736G>T: E246X - NPHS1_000038 3 Japanese CNF families (1 hom and 2 com-het)) PubMed: Sako et al. 2005, PubMed: Aya et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+?/. 1 - c.741G>T likely pathogenic r.(?) p.(Trp247Cys) g.36340237C>A - NPHS1:NM_004646.3:c.741G>T (Trp247Cys) - NPHS1_000188 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 07 c.766C>T - r.(766c>u) p.(Arg256Trp) g.36340212G>A g.35849310G>A Ex7, c.767C>T(h) = R256W - NPHS1_000039 1 Arabic CNF patient (hom) PubMed: Heeringa et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
?/., -/., +?/+? 8 7, 07 c.791C>G benign r.(?), r.(791c>g) p.(Pro264Arg) g.36340187G>C g.35849285G>C NPHS1:c.791C>G (P264R), nt791 (C→G): P264R - NPHS1_000006 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Koziell et al. 2002 - rs34982899 Germline, CLASSIFICATION record, SUMMARY record yes, - - - - - Inst.Human Genetics - Heidelberg, Gerard C.P. Schaafsma, VKGL-NL_Utrecht, Anne Polvi
+?/+? 1 07 c.808G>T - r.(808g>u) p.(Gly270Cys) g.36340170C>A g.35849268C>A exon 7 nt808(G>T): Gly270>Cys - NPHS1_000041 1 English CNF family (com-het) and 1 English CNF patient (com-het) PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
-/. 1 - c.840+6G>A benign r.(=) p.(=) g.36340132C>T - NPHS1:NM_004646.3:c.840+6G>A (?) - NPHS1_000187 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.881C>T benign r.(?) p.(Thr294Ile) g.36340009G>A - NPHS1:c.881C>T (T294I) - NPHS1_000165 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/+? 1 08 c.886G>A - c.886G>A p.(Ala296Thr) g.36340004C>T g.35849102C>T c.G886A: p.W289X - NPHS1_000042 1 Turkish CNF patient (com-het) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
-/. 1 - c.1012+68A>G benign r.(=) p.(=) g.36339810T>C - NPHS1:c.1012+68A>G - NPHS1_000164 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/+? 1 09 c.1019C>A - r.(1019c>a) p.(Pro340His) g.36339690G>T g.35848788G>T c.C1019A: p.P340H - NPHS1_000043 1 Afghanistanian (hom) and 1 Asian (com-het) CNF patient (hom) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 09 c.1040G>A - r.(1040g>a) p.(Gly347Glu) g.36339669C>T g.35848767C>T c.G1040A: p.G347E - NPHS1_000044 1 Arabic CNF patient (hom) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 09 c.1048T>C - r.(1048u>c) p.(Ser350Pro) g.36339661A>G g.35848759A>G exon 9 nt1048(T>C): Ser350>Pro; c.T1048C: p.S350P - NPHS1_000045 1 French CNF family (com-het) and 1 Romanian CNF patient (com-het) PubMed: Lenkkeri at al. 1999, PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 09 c.1096A>C - r.(1096a>c) p.(Ser366Arg) g.36339613T>G g.35848711T>G exon 9 nt1096(A>C): Ser366>Arg; c.A1096C: p.S366R - NPHS1_000046 1 more item PubMed: Lenkkeri at al. 1999, PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/., +?/+? 2 9, 09 c.1099C>T - r.(?), r.(1099c>u) p.(Arg367Cys) g.36339610G>A g.35848708G>A exon 9 nt1099(C>T): Arg367>Cys; c.C1099T: p.R367C - NPHS1_000047 1 more item PubMed: Santín et al. 2009, 1 more item - - Germline, SUMMARY record yes 0/93 CON - - - Elisabet Ars Criach, Anne Polvi
+?/+? 1 09 c.1100G>A - r.(1100g>a) p.(Arg367His) g.36339609C>T g.35848707C>T 1100G>A: R367H - NPHS1_000048 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 09 c.1102C>T - r.(1102c>u) p.(Pro368Ser) g.36339607G>A g.35848705G>A exon 9 nt1102 (C>T): Pro368>Ser - NPHS1_000049 1 Dutch CNF family (hom) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/+? 1 09 c.1103C>T - r.(1103c>u) p.(Pro368Leu) g.36339606G>A g.35848704G>A 1103C>T: P368L - NPHS1_000050 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
-?/., +?/+? 2 09 c.1126C>G likely benign r.(?), r.(1126c>g) p.(Leu376Val) g.36339583G>C g.35848681G>C NPHS1:c.1126C>G (L376V), exon 9 nt1126 (C>G): Leu376>Val - NPHS1_000051 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 Dutch CNF family (com-het) PubMed: Lenkkeri at al. 1999 - - CLASSIFICATION record, SUMMARY record yes 0/30 CON 9 - - VKGL-NL_Utrecht, Anne Polvi
+/+ 1 09 c.1134G>A - r.(1134g>a) p.(Trp378*) g.36339575C>T g.35848673C>T c.G1134A: p.W378X - NPHS1_000052 1 Arabic CNF family (hom) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 09 c.1135C>T - r.(1135c>u) p.(Arg379Trp) g.36339574G>A g.35848672G>A 1135C>T: R379W - NPHS1_000054 1 Japanese CNF patient (hom) and CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001, PubMed: Aya et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 09 c.1135_1136delCG - r.(1135_1136delcg) p.(Arg379Alafs*39) g.36339573_36339574delCG g.35848671_35848672delCG c.1134-1135delGC: p.R379fs417X - NPHS1_000053 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 09 c.1138C>T - r.(1138c>t) p.(Gln380*) g.36339571G>A g.35848669G>A c.1138C>T:p.Gln380X - NPHS1_000055 4 CNF patients (2 hom and 2 com-het) in 2 large partly consangenous Arab-Muslim CNF families PubMed: Frishberg et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 i09 c.1170+2T>C - r.spl? p.? g.36339537A>G g.35848635A>G - - NPHS1_000140 2 Tunisian siblings with CNF (hom) PubMed: Mbarek et al. 2011 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.1170+8G>A benign r.(=) p.(=) g.36339531C>T - NPHS1:c.1170+8G>A - NPHS1_000163 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1175T>C benign r.(?) p.(Leu392Pro) g.36339295A>G - NPHS1:c.1175T>C (L392P) - NPHS1_000162 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1192T>C pathogenic r.(?) p.(Ser398Pro) g.36339278A>G - NPHS1:NM_004646.3:c.1192T>C (Ser398Pro) - NPHS1_000185 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1199C>A VUS r.(?) p.(Ser400Tyr) g.36339271G>T - NPHS1:NM_004646.3:c.1199C>A (Ser400Tyr) - NPHS1_000184 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 10 c.1219C>T - r.(1219c>u) p.(Arg407Trp) g.36339251G>A g.35848349G>A c.C1219T: p.R407W - NPHS1_000056 1 Jordanian CNF family (hom) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
?/., -/., +?/+? 17 10 c.1223G>A benign r.(?), r.(1223g>a) p.(Arg408Gln) g.36339247C>T g.35848345C>T NPHS1:NM_004646.3:c.1223G>A (Arg408Gln), NPHS1:c.1223G>A (R408Q), 1 more item - NPHS1_000003 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Lenkkeri at al. 1999, PubMed: Schoeb et al. 2010 - rs33950747 Germline, CLASSIFICATION record, SUMMARY record yes 4/30 CON (het) - - - Gerard C.P. Schaafsma, VKGL-NL_Nijmegen, VKGL-NL_Utrecht, VKGL-NL_Groningen, Anne Polvi
+?/+? 1 10 c.1234G>T - r.(1234g>u) p.(Gly412Cys) g.36339236C>A g.35848334C>A Ex10, c.1234G>T(h) = G412C - NPHS1_000058 1 Caucasian CNF family (com-het) PubMed: Heeringa et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 10 c.1250G>T - r.(1250g>u) p.(Cys417Phe) g.36339220C>A g.35848318C>A 1250G>T: C417F - NPHS1_000059 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 10 c.1275delC - r.(1275delc) p.(Lys426Argfs*10) g.36339195delG g.35848293delG exon 10, nt1275(delC): frameshift and trunc. 435-res. protein - NPHS1_000060 1 North American CNF family (het) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
+/+ 1 10 c.1292dupA - r.(1292dupa) p.(Ser432Valfs*16) g.36339178dup g.35848276dupT nt1291 (insA): Frameshift and truncation - NPHS1_000061 1 Middle Eastern CNF patient (hom) PubMed: Koziell et al. 2002 - - SUMMARY record yes - - - - Anne Polvi
+/. 1 - c.1307_1308dup pathogenic r.(?) p.(Val437Thrfs*2) g.36339162_36339163dup - NPHS1:NM_004646.3:c.1307_1308dup (Val437fs) - NPHS1_000062 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ 1 10 c.1307_1308dupAC - r.(1307_1308dupac) p.(Val437Thrfs*2) g.36339162_36339163dup g.35848260_35848261dupGT 1 more item - NPHS1_000062 1 more item PubMed: Kestila et al. 1998, PubMed: Beltcheva et al. 2001, PubMed: Heeringa et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.1320C>T benign r.(=) p.(=) g.36339063G>A - NPHS1:NM_004646.3:c.1320C>T (=) - NPHS1_000183 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 11 c.1337T>A - r.(1337u>a) p.(Ile446Asn) g.36339046A>T g.35848144A>T nt1337 (T→A): I446N - NPHS1_000063 1 English/Indian CNF patient (com-het) PubMed: Koziell et al. 2002 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 11 c.1379G>A - r.(1379g>a) p.(Arg460Gln) g.36339004C>T g.35848102C>T 1379G>A: R460Q; c.1379G>A:R460Q; c.1381G>A: p.R460Q; c.G1379A: p.R460Q - NPHS1_000064 1 more item 1 more item - - SUMMARY record yes 0/295 CON - - - Anne Polvi
+?/+? 1 11 c.1394G>A - r.(1394g>a) p.(Cys465Tyr) g.36338989C>T g.35848087C>T exon 11 nt1384(G>A): Cys465>Tyr - NPHS1_000065 1 Finnish CNF family (com-het) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
+/. 1 i c.1440+1G>A - r.spl? p.? g.36338942C>T g.35848040C>T - - NPHS1_000151 - PubMed: Slavotinek 2015, Journal: Slavotinek 2015 - - Germline - - - - - Johan den Dunnen
+/+ 1 12 c.1481delC - r.(1481delc) p.(Ser494Cysfs*55) g.36337056delG g.35846154delG 1 more item - NPHS1_000066 Mennonite CNF founder mutation (North American/Mennonite) PubMed: Bolk et al. 1999, PubMed: Philippe et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 12 c.1555C>T - r.(1555c>u) p.(Pro519Ser) g.36336982G>A g.35846080G>A Ex12, c.1555C>T(h) = P519S - NPHS1_000067 1 European CNF patient (com-het) PubMed: Heeringa et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 12 c.1583G>T - r.(1583g>u) p.(Cys528Phe) g.36336954C>A g.35846052C>A exon 12 nt1583(G>T): Cys528>Phe - NPHS1_000068 1 French CNF family (com-het) PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 0/30 CON - - - Anne Polvi
+?/? 1 - c.1655C>A - r.(?) p.(Ala552Asp) g.36336673G>T g.35845771G>T - - NPHS1_000141 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - - - Elisabet Ars Criach
+?/+? 1 13 c.1672C>T - r.(1672c>u) p.(Arg558Cys) g.36336656G>A g.35845754G>A 1672C>T: R558C; c.C1672T: p.R558C - NPHS1_000069 1 Turkish twin pair (hom) with CNF and CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001, PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
+/., +?/., +/+ 4 13 c.1701C>A - r.(?), r.(1701c>a) p.(Cys567*) g.36336627G>T g.35845725G>T 1701C>A: C567X - NPHS1_000070 4 Hispanic CNF patients (com-het) and other CNF patients with non specified number and origin. PubMed: Santín et al. 2009, 1 more item - - Germline, SUMMARY record yes - - - - Elisabet Ars Criach, Elena Semina, Anne Polvi
-?/. 1 - c.1703T>C likely benign r.(?) p.(Val568Ala) g.36336625A>G - NPHS1:NM_004646.3:c.1703T>C (Val568Ala) - NPHS1_000182 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., +?/+? 2 13 c.1707C>G likely pathogenic r.(?), r.(1707c>g) p.(Ser569Arg) g.36336621G>C g.35845719G>C NPHS1:c.1707C>G (S569R), c.1707C>G:p.Ser569Arg - NPHS1_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Frishberg et al. 2007, PubMed: Heeringa et al. 2008 - - CLASSIFICATION record, SUMMARY record yes - - - - VKGL-NL_Groningen, Anne Polvi
+?/., +?/+? 2 13 c.1715G>A likely pathogenic r.(?), r.(1715g>a) p.(Ser572Asn) g.36336613C>T g.35845711C>T NPHS1:NM_004646.3:c.1715G>A (Ser572Asn), c.1715G>A: p.S572N; c.G1715A: p.S572N - NPHS1_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item PubMed: Gigante et al. 2005, PubMed: Schoeb et al. 2010 - - CLASSIFICATION record, SUMMARY record yes 0/93 CON - - - VKGL-NL_Nijmegen, Anne Polvi
+?/+? 1 13 c.1724C>A - r.(1724c>a) p.(Pro575Gln) g.36336604G>T g.35845702G>T c.1724C>A: p.P575Q - NPHS1_000073 1 CNF patient (com-het) PubMed: Philippe et al. 2008 - - SUMMARY record yes 0/91 CON - - - Anne Polvi
+?/. 1 - c.1756A>G likely pathogenic r.(?) p.(Arg586Gly) g.36336572T>C - NPHS1:NM_004646.3:c.1756A>G (Arg586Gly, ?) - NPHS1_000181 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 i14-15 c.1758-15_1778del - r.? p.? g.36336422_36336457del g.35845520_35845555del c.1759-15_1778del: Splice error - NPHS1_000121 1 CNF patient of unknown origin (hom) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
+?/+? 1 - c.1758-8_1785del - r.? p.? g.36336415_36336450del g.35845513_35845548del - - NPHS1_000150 1 CNF patient (hom) PubMed: Kari et al. 2014 - - SUMMARY record - - - - - Anne Polvi
+?/+? 1 14 c.1760T>G - r.(1760u>g) p.(Leu587Arg) g.36336440A>C g.35845538A>C c.T1760G: p.L587R - NPHS1_000074 1 Pakistan (hom) and 1 Asian (hom) CNF family, 1 Turkish CNF patient (com-het) PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - Anne Polvi
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