Full data view for gene NPHS1

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

341 entries on 4 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     
?/. - c.-16905C>A r.(?) p.(=) Unknown - VUS g.36359644G>T - APLP1(NM_001024807.2):c.106G>T (p.A36S) - NPHS1_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 00 c.-475_-468delGAGAGAGA r.? p.? Unknown - VUS g.36343221_36343228del g.35852319_35852326del 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 - VUS g.36343227_36343228del g.35852325_35852326del 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 - likely pathogenic 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 r.(?) p.(=) Unknown - benign g.36342800C>T g.35851898C>T NPHS1(NM_004646.3):c.-61G>A - NPHS1_000172 VKGL data sharing initiative Nederland - - - 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 r.(?) p.(Thr6Met) Unknown - benign g.36342723G>A g.35851821G>A NPHS1(NM_004646.3):c.17C>T (p.T6M) - NPHS1_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? i01 c.58+1G>T r.spl? p.? Maternal (confirmed) - likely pathogenic 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 r.spl? p.? Unknown - benign g.36342579G>C g.35851677G>C NPHS1(NM_004646.3):c.59-5C>G - NPHS1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.59-5C>G r.spl? p.? Unknown - benign g.36342579G>C g.35851677G>C NPHS1(NM_004646.3):c.59-5C>G - NPHS1_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.65C>T r.(?) p.(Ala22Val) Unknown - likely benign g.36342568G>A g.35851666G>A - - NPHS1_000212 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.015 - 0 - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - 0 - - 1 Global Variome, with Curator vacancy
+/+ - c.106del r.(?) p.(Ala36Profs*6) Paternal (confirmed) - pathogenic g.36342529del g.35851627del - - NPHS1_000145 1 African patient (com-het) with probable CNF PubMed: Sabi et al. 2013 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 02 c.121_122del r.(?) p.(Leu41Aspfs*50) Unknown - pathogenic g.36342511_36342512del g.35851609_35851610del 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 - - - - - - - - - - - - - - - - - - - - -
+/. - c.121_122del r.(?) p.(Leu41AspfsTer50) Unknown - pathogenic g.36342511_36342512del g.35851609_35851610del NPHS1(NM_004646.3):c.121_122delCT (p.L41Dfs*50) - NPHS1_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 02 c.139del r.(?) p.(Ala47Profs*81) Unknown - pathogenic g.36342498del g.35851596del 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 - - - - - - - - - - - - - - - - - - -
+?/+? 02 c.191G>C r.(191g>c) p.(Trp64Ser) Unknown - likely pathogenic 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.248dup r.(?) p.(Tyr83*) Maternal (confirmed) - pathogenic g.36342385dup g.35851483dup 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 r.spl? p.? Unknown - VUS g.36342356T>A g.35851454T>A - - NPHS1_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.286C>G r.(286c>g) p.(Leu96Val) Paternal (confirmed) - likely pathogenic 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 r.(?) p.(Ile98=) Unknown - benign g.36342267G>A g.35851365G>A - - NPHS1_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 03 c.313G>A r.(313g>a) p.(Asp105Asn) Unknown - likely pathogenic 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) - likely pathogenic 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 - VUS 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) - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Both (homozygous) - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Both (homozygous) - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - ADPKD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Both (homozygous) - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Both (homozygous) - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Both (homozygous) - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Both (homozygous) - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
?/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - VUS g.36342212C>T g.35851310C>T - - NPHS1_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - benign g.36342212C>T g.35851310C>T NPHS1(NM_004646.3):c.349G>A (p.E117K) - NPHS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - benign g.36342212C>T g.35851310C>T NPHS1(NM_004646.3):c.349G>A (p.E117K) - NPHS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.349G>A r.(?) p.(Glu117Lys) Unknown - benign g.36342212C>T g.35851310C>T NPHS1(NM_004646.3):c.349G>A (p.E117K) - NPHS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.349G>A r.(?) p.(Glu117Lys) Both (homozygous) - likely benign g.36342212C>T g.35851310C>T - - NPHS1_000001 - PubMed: Aya 2000 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - NPHS Pat1 PubMed: Aya 2000 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives - - Japan - - 0 - - 1 Johan den Dunnen
?/. 3 c.361G>A r.(?) p.(Glu121Lys) Maternal (confirmed) - VUS 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 r.(=) p.(=) Unknown - benign g.36342149G>A g.35851247G>A NPHS1(NM_004646.3):c.397+15C>T - NPHS1_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? i03 c.398-1G>A r.spl? p.? Unknown - likely pathogenic 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 - pathogenic 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) - pathogenic 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 r.(?) p.(Tyr156Ter) Unknown - pathogenic g.36341921G>C g.35851019G>C - - NPHS1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 04 c.479G>C r.(479g>c) p.(Cys160Ser) Paternal (confirmed) - likely pathogenic 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) - likely pathogenic 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 - likely pathogenic 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 - - - - - - - - - - - - - - - - - - - - -
+?/+? 04 c.515_517del r.(?) p.(Thr172del) Unknown - likely pathogenic g.36341874_36341876del g.35850972_35850974del 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 - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.515_517del r.(?) p.(Thr172del) Paternal (confirmed) - pathogenic g.36341874_36341876del g.35850972_35850974del - - 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 r.(?) p.(Thr172del) Unknown - pathogenic g.36341874_36341876del g.35850972_35850974del - - NPHS1_000146 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - ? - (Germany) - - 0 - - 1 IMGAG
+/+ 04 c.516del r.(?) p.(Ile173Phefs*3) Unknown - pathogenic g.36341874del g.35850972del 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 - likely pathogenic 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 - likely pathogenic 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 r.(=) p.(=) Unknown - benign g.36341780G>A g.35850878G>A NPHS1(NM_004646.3):c.526+83C>T - NPHS1_000167 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 05 c.532C>T r.(532c>u) p.(Gln178*) Unknown - pathogenic 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.534del r.(?) p.(Thr179Glnfs*9) Unknown - pathogenic g.36341340del g.35850438del 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 r.(?) p.(Asn188Ile) Unknown - benign g.36341311T>A g.35850409T>A NPHS1(NM_004646.3):c.563A>T (p.N188I) - NPHS1_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 05 c.574C>T r.(574c>u) p.(Gln192*) Unknown - pathogenic 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) - likely pathogenic 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_621delinsTT r.(?) p.(Thr205_Arg207delinsIle) Unknown - pathogenic 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 r.(?) p.(Leu215Arg) Unknown - pathogenic g.36340520A>C g.35849618A>C - - NPHS1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.656C>T r.(?) p.(Ala219Val) Unknown - likely benign g.36340508G>A g.35849606G>A NPHS1(NM_004646.3):c.656C>T (p.(Ala219Val)) - NPHS1_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.658T>G r.(?) p.(Ser220Ala) Unknown - VUS g.36340506A>C g.35849604A>C - - NPHS1_000005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.658T>G r.(?) p.(Ser220Ala) Unknown - VUS g.36340506A>C g.35849604A>C - - NPHS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 06 c.661_662del r.(?) p.(Ser221Profs*31) Unknown - pathogenic g.36340502_36340503del g.35849600_35849601del 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 - pathogenic 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 - likely pathogenic 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 - pathogenic 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 r.(?) p.(Trp247Cys) Unknown - likely pathogenic g.36340237C>A g.35849335C>A - - NPHS1_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 07 c.766C>T r.(766c>u) p.(Arg256Trp) Unknown - likely pathogenic 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.766C>T r.(?) p.(Arg256Trp) Parent #1 - likely pathogenic g.36340212G>A g.35849310G>A - - NPHS1_000039 7 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs386833960 Germline - 7/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 7 Mohammed Faruq
?/. - c.791C>G r.(?) p.(Pro264Arg) Unknown - VUS g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.791C>G r.(?) p.(Pro264Arg) Unknown - VUS g.36340187G>C g.35849285G>C - - NPHS1_000006 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - 0 - - 1 Global Variome, with Curator vacancy
+?/+? 07 c.791C>G r.(791c>g) p.(Pro264Arg) Unknown - likely pathogenic 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) - VUS 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
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