Full data view for gene NPHS1

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

305 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 00 c.-475_-468delGAGAGAGA - r.? p.? Unknown 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 - - - - - - - - - - - - - - - - - - - - -
?/? 00 c.-469_-468delGA - r.? p.? Unknown 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 - - - - - - - - - - - - - - - - - - - - -
+?/+? 00 c.-340G>C - r.? p.? Unknown 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 - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-61G>A benign r.(=) p.(=) Unknown g.36342800C>T - NPHS1:c.-61G>A - NPHS1_000172 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.? - r.? p.? Both (homozygous) g.? - c.3426A>G; p.T1182A - NPHS1_000138 variant not possible (incorrect nucleotide/amino acid); 1 early onset nephrotic syndrome patient from Pakistan (hom) PubMed: Abid et al. 2012 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.17C>T benign r.(?) p.(Thr6Met) Unknown g.36342723G>A - NPHS1:c.17C>T (T6M) - NPHS1_000171 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? i01 c.58+1G>T - r.spl? p.? Maternal (confirmed) 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 - - - - - - - - - - - - - - - - - - - - -
-/. - c.59-5C>G benign r.spl? p.? Unknown g.36342579G>C - NPHS1:c.59-5C>G - NPHS1_000170 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.59-5C>G benign r.spl? p.? Unknown g.36342579G>C - NPHS1:NM_004646.3:c.59-5C>G (?) - NPHS1_000170 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ - c.106delG - r.(?) p.(Ala36Profs*6) Paternal (confirmed) g.36342527delC g.35851625delC - - NPHS1_000145 1 African patient (com-het) with probable CNF PubMed: Sabi et al. 2013 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.121_122del pathogenic r.(?) p.(Leu41Aspfs*50) Unknown g.36342511_36342512del - NPHS1:c.121_122delCT (L41Dfs*50) - NPHS1_000169 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.121_122del pathogenic r.(?) p.(Leu41Aspfs*50) Unknown g.36342511_36342512del - NPHS1:NM_004646.3:c.121_122del (Leu41fs) - NPHS1_000169 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 02 c.121_122delCT - r.(121_122delcu) p.(Leu41Aspfs*50) Unknown g.36342511_36342512delAG g.35851609_35851610delAG Deletion of nucleotides 121-122 (CT) in exon 2; nt121(del2): frameshift, truncated 90-residue protein. Finmajor mutation. - NPHS1_000014 Finnish Major CNF mutation (Finmajor): >44 Finnish CNF patients (most hom), 1 North American CNF patient (com-het) and 2 Swedish CNF families (1 hom and 1 com-het) PubMed: Kestila et al. 1998,PubMed: Lenkkeri at al. 1999 - - SUMMARY record yes 1/83 FIN CON (h - - - - - - - - - - - - - - - - - - - - -
+/+ 02 c.139delG - r.(139delg) p.(Ala47Profs*81) Unknown 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 - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.162_176del likely pathogenic r.(?) p.(Val55_Gly59del) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 02 c.191G>C - r.(191g>c) p.(Trp64Ser) Unknown 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 - - - - - - - - - - - - - - - - - - - - -
+/+ 02 c.248dupA - r.(248dupa) p.(Tyr83*) Maternal (confirmed) g.36342385dup g.35851483dupT c.248insA: frameshift resulting in a premature termination of translation and truncated protein of 83 amino acids - NPHS1_000017 1 Italian CNF family PubMed: Gigante et al. 2005 - - SUMMARY record yes 0/50 CON - - - - - - - - - - - - - - - - - - - - -
?/. - c.274+3A>T VUS r.spl? p.? Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.286C>G - r.(286c>g) p.(Leu96Val) Paternal (confirmed) 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 - - - - - - - - - - - - - - - - - - - - -
-/. - c.294C>T benign r.(=) p.(=) Unknown g.36342267G>A - NPHS1:NM_004646.3:c.294C>T (=) - NPHS1_000190 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.313G>A - r.(313g>a) p.(Asp105Asn) Unknown 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 - - - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.319G>A - r.(319g>a) p.(Ala107Thr) Paternal (confirmed) 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 - - - - - - - - - - - - - - - - - - - - -
?/? 03 c.320C>T - r.(320c>u) p.(Ala107Val) Unknown 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 - - - - - - - - - - - - - - - - - - - - -
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - ? - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Both (homozygous) g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
?/. - c.349G>A - r.(?) p.(Glu117Lys) Unknown g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA NGS - - autism - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
-/. - c.349G>A benign r.(?) p.(Glu117Lys) Unknown g.36342212C>T - NPHS1:c.349G>A (E117K) - NPHS1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.349G>A benign r.(?) p.(Glu117Lys) Unknown g.36342212C>T - NPHS1:c.349G>A (E117K) - NPHS1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.349G>A benign r.(?) p.(Glu117Lys) Unknown g.36342212C>T - NPHS1:NM_004646:c.349G>A (Glu117Lys) - NPHS1_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.361G>A - r.(?) p.(Glu121Lys) Maternal (confirmed) g.36342200C>T g.35851298C>T - - NPHS1_000147 - PubMed: Santín et al. 2009 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - NPHS - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - 0 - - 1 Elisabet Ars Criach
-/. - c.397+15C>T benign r.(=) p.(=) Unknown g.36342149G>A - NPHS1:c.397+15C>T - NPHS1_000168 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? i03 c.398-1G>A - r.spl? p.? Unknown 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 - - - - - - - - - - - - - - - - - - - - - -
+/+ 04 c.468C>G - r.(468c>g) p.(Tyr156*) Unknown g.36341921G>C g.35851019G>C 468C>G: Y156X - NPHS1_000023 CNF patients with non specified number and origin. PubMed: Beltcheva et al. 2001, PubMed: Philippe et al. 2008 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 04 c.468C>G - r.(?) p.(Tyr156*) Paternal (confirmed) g.36341921G>C g.35851019G>C - - NPHS1_000023 - PubMed: Bullich 2015, Journal: Bullich 2015 - - Germline - - - 0 - DNA DGGE, SEQ, SEQ-NG-I - - NPHS-1 - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - 0 - - 1 Elisabet Ars Criach
+/. - c.468C>G pathogenic r.(?) p.(Tyr156*) Unknown g.36341921G>C - NPHS1:NM_004646.2:c.468C>G (Tyr156*) - NPHS1_000023 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 04 c.479G>C - r.(479g>c) p.(Cys160Ser) Paternal (confirmed) 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 - - - - - - - - - - - - - - - - - - - - - -
+?/+? 04 c.500C>T - r.(500c>u) p.(Pro167Leu) Both (homozygous) 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 - - - - - - - - - - - - - - - - - - - - -
+?/+? 04 c.512T>A - r.(512u>a) p.(Ile171Asn) Unknown 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 - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.515_517del - r.(?) p.(Thr172del) Paternal (confirmed) g.36341872_36341874del g.35850970_35850972del - - NPHS1_000146 - PubMed: Santín et al. 2011 - - Germline - - - 0 - DNA SEQ-NG, SEQ-NG-I - - NPHS - PubMed: Bullich 2015, Journal: Bullich 2015 - - - Spain - - 0 - - 1 Elisabet Ars Criach
+?/. - c.515_517del likely pathogenic r.(?) p.(Thr172del) Unknown g.36341872_36341874del - NPHS1:NM_004646.3:c.515_517del (Thr172del) - NPHS1_000146 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 04 c.515_517delCCA - r.(515_517delcca) p.(Thr172del) Unknown g.36341872_36341874delTGG g.35850970_35850972delTGG nt514(delACC): delT172; 513-5delCAC: del172T; c.514_516delACC: p.T172del - NPHS1_000027 1 Dutch CNF family (com-het), 1 Middle Eastern (hom) and 1 Egyptian (hom) CNF patient and CNF patients with non specified number and origin PubMed: Lenkkeri at al. 1999, PubMed: Beltcheva et al. 2001, PubMed: Koziell et al. 2002, PubMed: Schoeb et al. 2010 - - SUMMARY record yes 0/93 CON - - - - - - - - - - - - - - - - - - - - -
+/+ 04 c.516delC - r.(516delc) p.(Ile173Phefs*3) Unknown g.36341873delG g.35850971delG c.516delC: p.T712fs175X - NPHS1_000028 2 CNF patients (com-het) PubMed: Philippe et al. 2008 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 04 c.518T>A - r.(518u>a) p.(Ile173Asn) Unknown 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 - - - - - - - - - - - - - - - - - - - - -
+?/+? i04 c.526+5G>C - r.spl? p.? Unknown 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 - - - - - - - - - - - - - - - - - - - - -
-/. - c.526+83C>T benign r.(=) p.(=) Unknown g.36341780G>A - NPHS1:c.526+83C>T - NPHS1_000167 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 05 c.532C>T - r.(532c>u) p.(Gln178*) Unknown 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 - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 05 c.534delG - r.(534delg) p.(Thr179Glnfs*9) Unknown 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 - - - - - - - - - - - - - - - - - - - - -
-/. - c.563A>T benign r.(?) p.(Asn188Ile) Unknown g.36341311T>A - NPHS1:c.563A>T (N188I) - NPHS1_000166 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 05 c.574C>T - r.(574c>u) p.(Gln192*) Unknown 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 - - - - - - - - - - - - - - - - - - - - -
+?/+? i05 c.609-2A>C - r.spl? p.? Maternal (confirmed) 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 - - - - - - - - - - - - - - - - - - - - - -
+/+ 06 c.614_621delCACCCCGGinsTT - r.(614_621delcaccccgginsuu) p.(Thr205_Arg207delinsIle) Unknown g.36340543_36340550delinsAA g.35849641_35849648delinsAA exon 6, nt603(delCACCCCGG,insTT): Tyr205, Pro206, Arg207→Ile205; Ex6, c.603del8ins2: Y205,P206,R207 = I205; c.613_620delinsTT: p.T205,P206,R207>I205 - NPHS1_000035 1 Turkish CNF family (hom), 2 European CNF patients (com-het), 1 Pakistan CNF patient (hom), 1 Caucasian CNF patient (com-het) and 1 Tunisian CNF patient (hom) PubMed: Lenkkeri at al. 1999, PubMed: Koziell et al. 2002, PubMed: Heeringa et al. 2008, PubMed: Schoeb et al. 2010, PubMed: Mbarek et al. 2011 - - SUMMARY record yes 0/93 CON - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.644T>G pathogenic r.(?) p.(Leu215Arg) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.658T>G - r.(?) p.(Ser220Ala) Unknown g.36340506A>C g.35849604A>C - - NPHS1_000005 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.658T>G VUS r.(?) p.(Ser220Ala) Unknown g.36340506A>C - NPHS1:NM_004646.3:c.658T>G (Ser220Ala) - NPHS1_000005 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 06 c.661_662delAG - r.(661_662delag) p.(Ser221Profs*31) Unknown 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 - - - - - - - - - - - - - - - - - - - - - -
+/+ 06 c.692C>A - r.(692c>a) p.(Ser231*) Unknown 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 - - - - - - - - - - - - - - - - - - - - - -
+?/+? 07 c.710T>C - r.(?) p.(Leu237Pro) Parent #1 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 - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 07 c.736G>T - r.(736g>u) p.(Glu246*) Unknown 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 - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.741G>T likely pathogenic r.(?) p.(Trp247Cys) Unknown 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 07 c.766C>T - r.(766c>u) p.(Arg256Trp) Unknown 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 - - - - - - - - - - - - - - - - - - - - - -
?/. - c.791C>G - r.(?) p.(Pro264Arg) Unknown g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - - - - 1 LOVD-team, but with Curator vacancy
?/. - c.791C>G - r.(?) p.(Pro264Arg) Unknown g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - - - DNA NGS - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 LOVD-team, but with Curator vacancy
+?/+? 07 c.791C>G - r.(791c>g) p.(Pro264Arg) Unknown g.36340187G>C g.35849285G>C nt791 (C→G): P264R - NPHS1_000006 1 English/Indian CNF patient (com-het) PubMed: Koziell et al. 2002 - rs34982899 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) Both (homozygous) g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline yes - - 0 - DNA SEQ-NG Blood - CTRCT - - 2-generation family, 2 affecteds, patient I.2 F yes Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) Both (homozygous) g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline yes - - 0 - DNA SEQ-NG Blood - CTRCT - - 2-generation family, sister of PatI.2 F yes Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) Unknown g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - 0 - DNA SEQ-NG Blood - Healthy/Control - - Father of 00025020 and 00025118 M ? Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
?/. 7 c.791C>G - r.(?) p.(Pro264Arg) Unknown g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - 0 - DNA SEQ-NG Blood - Healthy/Control - - Mother of 00025020 and 00025118 F ? Germany Caucasian - 0 - - 1 Inst.Human Genetics - Heidelberg
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