NPHS1 — 2032 ClinVar variants

All ClinVar germline NPHS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 485 flagged for review →

131 Pathogenic · 75 Pathogenic/Likely pathogenic · 243 Likely pathogenic · 141 Conflicting · 40 Benign · 24 Benign/Likely benign · 893 Likely benign · 485 Uncertain significance

Full NPHS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 485

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 21

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

NPHS1 p.Arg367Cys Pathogenic/Likely pathogenic Multiple submitters
NPHS1-related disorder
NPHS1 p.Arg379Trp Pathogenic/Likely pathogenic Multiple submitters
NPHS1-related disorder
NPHS1 p.Arg407Trp Pathogenic/Likely pathogenic Multiple submitters
NPHS1-related disorder
NPHS1 p.Arg460Gln Pathogenic/Likely pathogenic Multiple submitters
NPHS1-related disorder
NPHS1 p.Arg711Cys Likely pathogenic Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg711His Likely pathogenic Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg743Cys Pathogenic/Likely pathogenic Multiple submitters
NPHS1-related disorder
NPHS1 p.Arg802Trp Pathogenic/Likely pathogenic Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg831Cys Pathogenic/Likely pathogenic Multiple submitters
NPHS1-related disorder
NPHS1 p.Arg888Lys Pathogenic/Likely pathogenic Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly796Glu Likely pathogenic Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Leu587Arg Pathogenic/Likely pathogenic Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Leu96Val Likely pathogenic Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Pro519Ser Likely pathogenic Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Val822Met Pathogenic/Likely pathogenic Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala806Thr Likely pathogenic Single submitter
NPHS1 p.Ser350Tyr Likely pathogenic Single submitter
NPHS1 p.Ala296Thr Likely pathogenic No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala739Val Likely pathogenic No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly1161Val Likely pathogenic No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Pro575Gln Likely pathogenic No assertion criteria
congenital nephrotic syndrome, Finnish type

Predictors agree, ClinVar conflicts 73

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

NPHS1 p.Ala1068Thr Conflicting Single submitter
NPHS1 p.Ala1078Asp Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala1188Thr Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala22Val Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala296Val Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Ala313Val Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala540Glu Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala712Ser Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Ala912Thr Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala916Ser Conflicting Single submitter
kidney disorder
NPHS1 p.Arg1092His Conflicting Single submitter
familial nephrotic syndrome
NPHS1 p.Arg1123Gly Conflicting Single submitter
NPHS1 p.Arg1140His Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Arg207Gln Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Arg256Trp Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg268Gln Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg367His Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg407Gln Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg456Gln Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg460Trp Conflicting Single submitter
familial nephrotic syndrome
NPHS1 p.Arg496Ser Conflicting Single submitter
Microscopic hematuria
NPHS1 p.Arg800Cys Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg800His Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg802Gln Conflicting Single submitter
nephrotic syndrome
NPHS1 p.Arg831His Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Arg864His Conflicting Single submitter
focal segmental glomerulosclerosis
NPHS1 p.Arg866Gln Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Asn188Ile Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Asp781Glu Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Cys265Ser Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Glu1044Lys Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Glu1113Lys Conflicting Single submitter
familial nephrotic syndrome
NPHS1 p.Glu246Lys Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Glu39Lys Conflicting Single submitter
focal segmental glomerulosclerosis
NPHS1 p.Glu45Lys Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Gly15Arg Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly241Glu Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly331Ser Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly347Glu Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly412Cys Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly958Glu Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.His1174Tyr Conflicting Single submitter
familial nephrotic syndrome
NPHS1 p.Ile245Leu Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ile446Asn Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Leu237Pro Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Lys136Arg Conflicting Single submitter
familial nephrotic syndrome
NPHS1 p.Lys430Arg Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Lys600Arg Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Met384Thr Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Pro1185Leu Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Pro1200Ser Conflicting Single submitter
familial nephrotic syndrome
NPHS1 p.Pro264Gln Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Pro340His Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Pro674Thr Conflicting Single submitter
NPHS1-related disorder
NPHS1 p.Ser1058Leu Conflicting Single submitter
familial nephrotic syndrome
NPHS1 p.Ser220Ala Conflicting Single submitter
NPHS1-related disorder
NPHS1 p.Ser350Phe Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Thr1034Ala Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Thr1051Ala Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Thr1129Pro Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Thr1152Met Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Thr1182Met Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Thr233Ala Conflicting Single submitter
focal segmental glomerulosclerosis
NPHS1 p.Thr5Met Conflicting Single submitter
familial nephrotic syndrome
NPHS1 p.Thr921Ala Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Tyr1217Asp Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Val1241Ala Conflicting Single submitter
Inborn genetic diseases
NPHS1 p.Val187Met Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Val216Leu Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Val43Ala Conflicting Single submitter
familial nephrotic syndrome
NPHS1 p.Val608Ile Conflicting Single submitter
familial nephrotic syndrome
NPHS1 p.Val957Leu Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly968Cys Conflicting No assertion criteria
congenital nephrotic syndrome, Finnish type

Predictors lean, ClinVar uncertain 298

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 298

NPHS1 p.Ala325Ser Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala457Val Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Ala597Thr Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala813Thr Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala916Thr Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala9Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Arg1088Gln Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Arg1092Cys Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Arg1140Cys Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg256Gln Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg827Gln Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg972Ser Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Asn159Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Asp1223Asn Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Asp1223Val Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Asp581Glu Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Asp942Glu Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Cys1080Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Gln178Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Gln839Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Gln896Glu Uncertain significance Multiple submitters
familial nephrotic syndrome
NPHS1 p.Glu1122Gln Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Glu143Gln Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Glu143Val Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Glu782Lys Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Glu99Lys Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Gly1222Arg Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Gly1222Glu Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Gly15Glu Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Gly412Ser Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly685Cys Uncertain significance Multiple submitters
NPHS1 p.His1239Leu Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.His720Pro Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.His842Pro Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ile871Val Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Leu1072Ile Uncertain significance Multiple submitters
NPHS1-related disorder
NPHS1 p.Leu215Gln Uncertain significance Multiple submitters
NPHS1 p.Leu237Gln Uncertain significance Multiple submitters
Microscopic hematuria
NPHS1 p.Leu734Arg Uncertain significance Multiple submitters
familial nephrotic syndrome
NPHS1 p.Lys582Glu Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Met389Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Met399Thr Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Phe526Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Pro1054Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Pro1061Ser Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Pro1147Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Pro222Leu Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Pro73Leu Uncertain significance Multiple submitters
familial nephrotic syndrome
NPHS1 p.Pro838Ser Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Pro845Thr Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Pro887Ala Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Ser209Thr Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Ser29Phe Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ser488Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Ser902Asn Uncertain significance Multiple submitters
familial nephrotic syndrome
NPHS1 p.Thr1101Lys Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Thr1182Ala Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Thr205Ser Uncertain significance Multiple submitters
familial nephrotic syndrome
NPHS1 p.Thr414Ala Uncertain significance Multiple submitters
nephrotic syndrome
NPHS1 p.Thr890Met Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Tyr1158Phe Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Val157Met Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Val204Met Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Val370Ile Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Val437Ile Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Val502Met Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Val621Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Val833Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Val899Ile Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Val909Met Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Ala100Ser Uncertain significance Single submitter
familial nephrotic syndrome
NPHS1 p.Ala165Thr Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala22Ser Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Ala274Pro Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Ala28Pro Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Ala28Val Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Ala36Thr Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Ala441Thr Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala47Thr Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala556Ser Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala597Val Uncertain significance Single submitter
NPHS1 p.Ala672Ser Uncertain significance Single submitter
NPHS1 p.Ala675Val Uncertain significance Single submitter
NPHS1 p.Ala691Glu Uncertain significance Single submitter
familial nephrotic syndrome
NPHS1 p.Ala739Pro Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Ala811Ser Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala813Val Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala823Val Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala907Thr Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala90Asp Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Ala922Asp Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala925Ser Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Arg1010Ser Uncertain significance Single submitter
NPHS1 p.Arg1088Trp Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg1123Trp Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Arg115Leu Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg1160Gln Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg1160Pro Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Arg256Leu Uncertain significance Single submitter
NPHS1 p.Arg299His Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg32Gln Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg489Trp Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg620Cys Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Arg624Leu Uncertain significance Single submitter
familial nephrotic syndrome
NPHS1 p.Arg743Ser Uncertain significance Single submitter
NPHS1 p.Arg777Lys Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg828Gln Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Arg84Pro Uncertain significance Single submitter
NPHS1 p.Arg940Cys Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Arg940His Uncertain significance Single submitter
NPHS1 p.Asn411Asp Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Asn641Ser Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Asn820Ser Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Asn878Asp Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Asn878Ile Uncertain significance Single submitter
NPHS1 p.Asp1166Glu Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Asp170His Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Asp182Ala Uncertain significance Single submitter
NPHS1 p.Asp390Tyr Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Asp481Tyr Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Asp714Asn Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Asp735His Uncertain significance Single submitter
NPHS1 p.Asp764Asn Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Asp88Glu Uncertain significance Single submitter
NPHS1 p.Cys1080Gly Uncertain significance Single submitter
NPHS1 p.Cys816Arg Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Cys920Gly Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gln1040Arg Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gln112Leu Uncertain significance Single submitter
NPHS1 p.Gln328Arg Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gln442Glu Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Gln885Leu Uncertain significance Single submitter
familial nephrotic syndrome
NPHS1 p.Glu1155Gly Uncertain significance Single submitter
NPHS1 p.Glu1155Lys Uncertain significance Single submitter
NPHS1 p.Glu121Asp Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Glu225Gln Uncertain significance Single submitter
NPHS1 p.Glu385Gly Uncertain significance Single submitter
NPHS1 p.Glu45Gln Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Glu677Lys Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Glu782Asp Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Gly1020Arg Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly1082Val Uncertain significance Single submitter
NPHS1 p.Gly1083Arg Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly1096Ser Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly1161Ser Uncertain significance Single submitter
NPHS1-related disorder
NPHS1 p.Gly1173Arg Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Gly1190Glu Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Gly1215Arg Uncertain significance Single submitter
NPHS1 p.Gly270Arg Uncertain significance Single submitter
NPHS1 p.Gly347Arg Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type

Predictors split 93

The independent predictors disagree with each other — read with care.

NPHS1 p.Ala765Val Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg115Cys Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg711Ser Pathogenic/Likely pathogenic Multiple submitters
NPHS1-related disorder
NPHS1 p.Glu725Lys Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly685Asp Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Leu1069Pro Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Leu533Pro Uncertain significance Multiple submitters
familial nephrotic syndrome
NPHS1 p.Pro368Ser Likely pathogenic Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ser162Cys Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ser432Leu Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Ser475Cys Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Ser937Asn Uncertain significance Multiple submitters
NPHS1-related disorder
NPHS1 p.Thr999Met Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Tyr1217Cys Uncertain significance Multiple submitters
Inborn genetic diseases
NPHS1 p.Val306Met Uncertain significance Multiple submitters
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala107Thr Conflicting Single submitter
NPHS1-related disorder
NPHS1 p.Ala200Thr Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Ala524Thr Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ala625Val Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Arg256Gly Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg299Cys Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg32Trp Likely benign Single submitter
NPHS1 p.Arg369Trp Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg456Trp Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Arg624Cys Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Arg684Cys Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg84Cys Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Arg864Cys Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Asn547Lys Likely benign Single submitter
NPHS1 p.Asn573Lys Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Asp88Tyr Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Asp88Val Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Gln971Arg Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Glu663Lys Likely benign Single submitter
NPHS1 p.Glu750Gly Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly1082Arg Uncertain significance Single submitter
NPHS1 p.Gly258Ala Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly448Arg Uncertain significance Single submitter
familial nephrotic syndrome
NPHS1 p.Gly469Glu Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Gly46Glu Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Gly796Ala Uncertain significance Single submitter
NPHS1 p.Gly79Cys Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Gly879Arg Uncertain significance Single submitter
NPHS1 p.Gly879Glu Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Gly981Val Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.His311Arg Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.His617Arg Uncertain significance Single submitter
NPHS1 p.His696Arg Uncertain significance Single submitter
NPHS1 p.His737Pro Uncertain significance Single submitter
NPHS1 p.Leu129Phe Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Leu704Val Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Leu70Phe Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Leu884Pro Uncertain significance Single submitter
NPHS1 p.Leu903His Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Leu903Pro Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Lys136Met Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Lys848Gln Uncertain significance Single submitter
NPHS1 p.Lys848Glu Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Lys848Thr Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Phe232Leu Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Phe599Leu Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Phe683Leu Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Pro169Thr Uncertain significance Single submitter
familial nephrotic syndrome
NPHS1 p.Pro240Leu Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Pro383Leu Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Pro544Leu Uncertain significance Single submitter
NPHS1 p.Pro574Ser Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Pro78Leu Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ser1022Thr Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Ser191Tyr Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ser572Gly Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Thr197Pro Uncertain significance Single submitter
NPHS1 p.Thr42Lys Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Thr42Met Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Thr537Met Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Thr999Arg Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Tyr1176Asp Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Tyr638Cys Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Val266Met Conflicting Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Val370Gly Uncertain significance Single submitter
congenital nephrotic syndrome, Finnish type
NPHS1 p.Val656Leu Uncertain significance Single submitter
Inborn genetic diseases
NPHS1 p.Val818Met Uncertain significance Single submitter
NPHS1 p.Arg802Pro Likely pathogenic No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Asp1021Tyr Uncertain significance No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Glu309Lys Uncertain significance No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Gly282Cys Uncertain significance No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Ile1033Thr Uncertain significance No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Leu14Pro Uncertain significance No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Lys166Asn Uncertain significance No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Met772Thr Uncertain significance No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Pro449Ala Uncertain significance No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Thr233Pro Uncertain significance No assertion criteria
congenital nephrotic syndrome, Finnish type
NPHS1 p.Thr856Pro Uncertain significance No assertion criteria
congenital nephrotic syndrome, Finnish type

All NPHS1 variants

Pathogenic 131

c.1440+1G>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.1758-8_1785del Multiple submitters congenital nephrotic syndrome, Finnish type
c.2335-1G>A Multiple submitters NPHS1-related disorder
c.2663+2T>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.3481+1G>T Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ala47fs Multiple submitters NPHS1-related disorder
p.Ala806Asp Multiple submitters NPHS1-related disorder
p.Arg1109Ter Multiple submitters NPHS1-related disorder
p.Arg1160Ter Multiple submitters NPHS1-related disorder
p.Arg207fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg511Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg606fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg827Ter Multiple submitters NPHS1-related disorder
p.Arg976Ser Multiple submitters NPHS1-related disorder
p.Asn878fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Asp310Asn Multiple submitters congenital nephrotic syndrome, Finnish type
p.Cys567Ter Multiple submitters Infantile Nephrotic syndrome
p.Cys623Phe Multiple submitters NPHS1-related disorder
p.Cys721fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gln1148Ter Multiple submitters NPHS1-related disorder
p.Gln178Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gln192Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Glu189Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Glu309Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Glu776fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gly412fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Leu1072fs Multiple submitters Inborn genetic diseases
p.Leu41fs Multiple submitters NPHS1-related disorder
p.Leu719fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Lys582fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser366Arg Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser494fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Thr179fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Thr847fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Trp247Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Trp289Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Tyr1009Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Tyr156Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Tyr83Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Val1084fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Val949_Val950insTer Multiple submitters
c.1757+1G>A Single submitter congenital nephrotic syndrome, Finnish type
c.2335-2A>G Single submitter
c.3481+2T>C Single submitter
c.526+1G>A Single submitter congenital nephrotic syndrome, Finnish type
c.527-2A>G Single submitter congenital nephrotic syndrome, Finnish type
c.58+1G>T Single submitter congenital nephrotic syndrome, Finnish type
c.840+1G>T Single submitter congenital nephrotic syndrome, Finnish type
p.Ala100fs Single submitter
p.Ala165fs Single submitter
p.Ala850fs Single submitter congenital nephrotic syndrome, Finnish type
p.Arg32fs Single submitter
p.Arg558Cys Single submitter NPHS1-related disorder
p.Arg620fs Single submitter
p.Asn870fs Single submitter congenital nephrotic syndrome, Finnish type
p.Asp764fs Single submitter
p.Asp942fs Single submitter
p.Cys160Ser Single submitter congenital nephrotic syndrome, Finnish type
p.Cys160Tyr Single submitter
p.Cys217_Glu218delinsTer Single submitter congenital nephrotic syndrome, Finnish type
p.Cys217fs Single submitter
p.Cys317Ter Single submitter
p.Cys465Tyr Single submitter congenital nephrotic syndrome, Finnish type
p.Cys863Arg Single submitter congenital nephrotic syndrome, Finnish type
p.Gln1040Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Gln1087Ter Single submitter
p.Gln154fs Single submitter
p.Gln23fs Single submitter congenital nephrotic syndrome, Finnish type
p.Gln523Ter Single submitter
p.Gln785Ter Single submitter
p.Gln815Ter Single submitter
p.Gln913Ter Single submitter
p.Gln934Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Glu1046fs Single submitter
p.Glu108Ter Single submitter
p.Glu1115Ter Single submitter
p.Glu1122Ter Single submitter
p.Glu121fs Single submitter congenital nephrotic syndrome, Finnish type
p.Glu246Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Glu386Ter Single submitter
p.Glu427Ter Single submitter
p.Glu585fs Single submitter
p.Gly1043fs Single submitter
p.Gly258Ter Single submitter
p.Gly290fs Single submitter congenital nephrotic syndrome, Finnish type
p.Gly470fs Single submitter congenital nephrotic syndrome, Finnish type
p.Gly796Ter Single submitter
p.Gly946_Leu947insTer Single submitter
p.Gly967Arg Single submitter congenital nephrotic syndrome, Finnish type
p.His293fs Single submitter
p.Ile173fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ile446fs Single submitter congenital nephrotic syndrome, Finnish type
p.Leu1175fs Single submitter congenital nephrotic syndrome, Finnish type
p.Leu302fs Single submitter NPHS1-related disorder
p.Leu609fs Single submitter
p.Leu71fs Single submitter
p.Met790fs Single submitter
p.Phe637delinsGluArgArgSerArgArgArgArgProGlnLysGlyArgArgArgArgGlyLeuGlySerValAlaTer Single submitter
p.Phe80fs Single submitter
p.Phe873fs Single submitter
p.Pro206_Arg207del Single submitter
p.Pro339_Pro340insTer Single submitter
p.Pro674Leu Single submitter congenital nephrotic syndrome, Finnish type
p.Pro845_Leu846insTer Single submitter
p.Ser432fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ser475fs Single submitter
p.Ser520Ter Single submitter
p.Ser555fs Single submitter
p.Ser569Arg Single submitter congenital nephrotic syndrome, Finnish type
p.Thr233_Val234insTer Single submitter
p.Thr387fs Single submitter
p.Thr5fs Single submitter
p.Thr844fs Single submitter
p.Thr982fs Single submitter congenital nephrotic syndrome, Finnish type
p.Trp1086fs Single submitter
p.Trp278fs Single submitter
p.Trp374Ter Single submitter
p.Trp375Ter Single submitter
p.Trp707Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Trp775Ter Single submitter
p.Tyr1139fs Single submitter congenital nephrotic syndrome, Finnish type
p.Tyr479Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Tyr638Ter Single submitter
p.Tyr814Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Tyr889Ter Single submitter
p.Tyr977Ter Single submitter
p.Val198fs Single submitter
p.Val590fs Single submitter
p.Val936fs Single submitter
p.Tyr83Ter No assertion criteria congenital nephrotic syndrome, Finnish type
p.Trp64Arg No assertion criteria congenital nephrotic syndrome, Finnish type

Pathogenic/Likely pathogenic 75

p.Leu16fs Multiple submitters congenital nephrotic syndrome, Finnish type
c.1172_1181del Multiple submitters congenital nephrotic syndrome, Finnish type
c.1172del Multiple submitters congenital nephrotic syndrome, Finnish type
c.1315+1G>A Multiple submitters congenital nephrotic syndrome, Finnish type
p.Val55fs Multiple submitters congenital nephrotic syndrome, Finnish type
c.2071+2T>C Multiple submitters NPHS1-related disorder
c.2663+2T>G Multiple submitters congenital nephrotic syndrome, Finnish type
c.2927+1G>A Multiple submitters NPHS1-related disorder
c.3595-2A>G Multiple submitters congenital nephrotic syndrome, Finnish type
c.713-1G>A Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ala658fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ala675fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ala712fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg268fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg268Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg367Cys Multiple submitters NPHS1-related disorder ⚠
p.Arg373Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg379Trp Multiple submitters NPHS1-related disorder ⚠
p.Arg407Trp Multiple submitters NPHS1-related disorder ⚠
p.Arg460Gln Multiple submitters NPHS1-related disorder ⚠
p.Arg511fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg697fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg711Ser Multiple submitters NPHS1-related disorder ⚠
p.Arg743Cys Multiple submitters NPHS1-related disorder ⚠
p.Arg76fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg802Trp Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Arg831Cys Multiple submitters NPHS1-related disorder ⚠
p.Arg866Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg888Lys Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Asn1112fs Multiple submitters NPHS1-related disorder
p.Asp713fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Cys265Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gln1004Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gln283Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gln611Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gln652Ter Multiple submitters NPHS1-related disorder
p.Gln896fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gln896Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Glu225fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Glu647Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Glu783Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Glu99Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gly270Cys Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gly796fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gly867Asp Multiple submitters focal segmental glomerulosclerosis
p.His804fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ile180_Ser181insTer Multiple submitters congenital nephrotic syndrome, Finnish type
p.Leu587Arg Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Leu734fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Leu947_Lys948delinsTer Multiple submitters congenital nephrotic syndrome, Finnish type
p.Leu969fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Met1Thr Multiple submitters congenital nephrotic syndrome, Finnish type
p.Phe998fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Pro1185fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Pro243fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Pro272_Leu273insTer Multiple submitters congenital nephrotic syndrome, Finnish type
p.Pro284fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser1186fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser208fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser231Ter Multiple submitters NPHS1-related disorder
p.Ser341fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser350Pro Multiple submitters NPHS1-related disorder
p.Ser572Asn Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser910Pro Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser928Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Thr205_Arg207delinsIle Multiple submitters NPHS1-related disorder
p.Trp150Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Trp35fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Trp35Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Trp445Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Trp478Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Tyr1183Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Val437fs Multiple submitters NPHS1-related disorder
p.Val822Met Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Leu643Pro No assertion criteria congenital nephrotic syndrome, Finnish type

Likely pathogenic 243

c.1012+2T>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.1930+5G>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.2179_2212+6del Multiple submitters congenital nephrotic syndrome, Finnish type
c.2506+1G>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.2663_2663+9del Multiple submitters congenital nephrotic syndrome, Finnish type
c.275-1G>C Multiple submitters congenital nephrotic syndrome, Finnish type
c.2816-2A>G Multiple submitters congenital nephrotic syndrome, Finnish type
c.3286+1G>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.3286+5G>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.3312-1G>C Multiple submitters congenital nephrotic syndrome, Finnish type
c.3387+1G>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.3594+1G>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.397+1G>C Multiple submitters congenital nephrotic syndrome, Finnish type
c.398-1G>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.398-1G>C Multiple submitters congenital nephrotic syndrome, Finnish type
c.526+1G>C Multiple submitters congenital nephrotic syndrome, Finnish type
c.527-1G>A Multiple submitters NPHS1-related disorder
c.58+1G>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.713-2A>T Multiple submitters congenital nephrotic syndrome, Finnish type
c.841-2A>C Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ala691fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg695fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg711Cys Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Arg711His Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Asp105Asn Multiple submitters nephrotic syndrome
p.Gln63Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Glu1207fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gly726fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gly796Glu Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.His705fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Leu96Val Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Phe918fs Multiple submitters congenital nephrotic syndrome, Finnish type
p.Pro167Leu Multiple submitters congenital nephrotic syndrome, Finnish type
p.Pro368Leu Multiple submitters congenital nephrotic syndrome, Finnish type
p.Pro368Ser Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Pro519Ser Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Trp961Ter Multiple submitters congenital nephrotic syndrome, Finnish type
p.Tyr977Cys Multiple submitters congenital nephrotic syndrome, Finnish type
p.Val709Gly Multiple submitters congenital nephrotic syndrome, Finnish type
p.Val736Ala Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg32fs Single submitter congenital nephrotic syndrome, Finnish type
c.1013-1G>T Single submitter congenital nephrotic syndrome, Finnish type
c.1171-1G>C Single submitter congenital nephrotic syndrome, Finnish type
c.1316-1G>C Single submitter congenital nephrotic syndrome, Finnish type
c.1441-1G>T Single submitter
c.1441-9G>A Single submitter congenital nephrotic syndrome, Finnish type
c.1627+1G>A Single submitter congenital nephrotic syndrome, Finnish type
c.1628-10C>A Single submitter congenital nephrotic syndrome, Finnish type
c.1628-1G>A Single submitter
c.1628-1G>C Single submitter congenital nephrotic syndrome, Finnish type
c.1628-2A>G Single submitter congenital nephrotic syndrome, Finnish type
p.Ala61fs Single submitter congenital nephrotic syndrome, Finnish type
c.1930+1G>A Single submitter congenital nephrotic syndrome, Finnish type
c.2071+1G>T Single submitter congenital nephrotic syndrome, Finnish type
c.2071+2del Single submitter
c.2212+2T>C Single submitter congenital nephrotic syndrome, Finnish type
c.2334+2T>C Single submitter congenital nephrotic syndrome, Finnish type
c.2507-2A>G Single submitter
c.2664-2A>G Single submitter congenital nephrotic syndrome, Finnish type
c.274+2T>A Single submitter
c.275-1G>A Single submitter congenital nephrotic syndrome, Finnish type
c.2815+1G>C Single submitter
c.2815+2_2815+5del Single submitter congenital nephrotic syndrome, Finnish type
c.2816-3T>G Single submitter congenital nephrotic syndrome, Finnish type
c.2927+1G>C Single submitter
c.2927+1G>T Single submitter
c.2927+2T>A Single submitter congenital nephrotic syndrome, Finnish type
c.2927+2T>C Single submitter
c.2928-1G>C Single submitter congenital nephrotic syndrome, Finnish type
c.3109+2T>G Single submitter
c.3110-2A>G Single submitter
c.3166+2C>G Single submitter
c.3167-2A>C Single submitter congenital nephrotic syndrome, Finnish type
c.3286+1_3286+6del Single submitter congenital nephrotic syndrome, Finnish type
c.3287-2A>G Single submitter congenital nephrotic syndrome, Finnish type
c.3311+1_3311+11del Single submitter congenital nephrotic syndrome, Finnish type
c.3311+1_3311+2delinsTC Single submitter congenital nephrotic syndrome, Finnish type
c.3387+2T>C Single submitter
c.3482-1G>A Single submitter congenital nephrotic syndrome, Finnish type
c.3482-2A>C Single submitter congenital nephrotic syndrome, Finnish type
c.3594+2T>C Single submitter congenital nephrotic syndrome, Finnish type
c.3595-6_3595-1delinsCA Single submitter congenital nephrotic syndrome, Finnish type
c.3600_3607del Single submitter congenital nephrotic syndrome, Finnish type
c.397+1G>A Single submitter congenital nephrotic syndrome, Finnish type
c.397+2T>A Single submitter
c.397+3A>G Single submitter congenital nephrotic syndrome, Finnish type
c.398-2A>G Single submitter congenital nephrotic syndrome, Finnish type
c.526+5G>T Single submitter congenital nephrotic syndrome, Finnish type
c.58+2T>C Single submitter
c.59-1G>T Single submitter congenital nephrotic syndrome, Finnish type
c.608+1G>T Single submitter
c.609-2A>C Single submitter congenital nephrotic syndrome, Finnish type
c.712+1G>A Single submitter
c.713-2_734del Single submitter congenital nephrotic syndrome, Finnish type
p.Ala168fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ala61fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ala672Thr Single submitter congenital nephrotic syndrome, Finnish type
p.Ala806Thr Single submitter ⚠
p.Arg460fs Single submitter congenital nephrotic syndrome, Finnish type
p.Arg483fs Single submitter congenital nephrotic syndrome, Finnish type
p.Arg695Trp Single submitter
p.Arg711Pro Single submitter
p.Arg835fs Single submitter congenital nephrotic syndrome, Finnish type
p.Asn641fs Single submitter congenital nephrotic syndrome, Finnish type
p.Asp1021fs Single submitter congenital nephrotic syndrome, Finnish type
p.Asp105Ala Single submitter
p.Asp106Tyr Single submitter NPHS1-related disorder
p.Asp164fs Single submitter congenital nephrotic syndrome, Finnish type
p.Asp170fs Single submitter congenital nephrotic syndrome, Finnish type
p.Asp310Tyr Single submitter
p.Asp410fs Single submitter congenital nephrotic syndrome, Finnish type
p.Cys111Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Cys265Arg Single submitter congenital nephrotic syndrome, Finnish type
p.Cys265fs Single submitter congenital nephrotic syndrome, Finnish type
p.Cys417Tyr Single submitter nephrotic syndrome
p.Cys623Arg Single submitter
p.Cys920Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Gln1004fs Single submitter congenital nephrotic syndrome, Finnish type
p.Gln1118fs Single submitter congenital nephrotic syndrome, Finnish type
p.Gln1118Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Gln178fs Single submitter congenital nephrotic syndrome, Finnish type
p.Gln785fs Single submitter congenital nephrotic syndrome, Finnish type
p.Gln810fs Single submitter congenital nephrotic syndrome, Finnish type
p.Gln839fs Single submitter congenital nephrotic syndrome, Finnish type
p.Gln839Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Glu117fs Single submitter congenital nephrotic syndrome, Finnish type
p.Glu45fs Single submitter congenital nephrotic syndrome, Finnish type
p.Glu651Ter Single submitter NPHS1-related disorder
p.Glu725fs Single submitter congenital nephrotic syndrome, Finnish type
p.Glu841Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Glu960Ter Single submitter NPHS1-related disorder
p.Gly1002fs Single submitter congenital nephrotic syndrome, Finnish type
p.Gly693fs Single submitter congenital nephrotic syndrome, Finnish type
p.Gly796Arg Single submitter congenital nephrotic syndrome, Finnish type
p.Gly79fs Single submitter congenital nephrotic syndrome, Finnish type
p.Gly92Cys Single submitter NPHS1-related disorder
p.Gly946Ter Single submitter congenital nephrotic syndrome, Finnish type
p.His805fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ile183fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ile397fs Single submitter congenital nephrotic syndrome, Finnish type
p.Leu1060fs Single submitter congenital nephrotic syndrome, Finnish type
p.Leu1075fs Single submitter congenital nephrotic syndrome, Finnish type
p.Leu1192fs Single submitter congenital nephrotic syndrome, Finnish type
p.Leu12fs Single submitter congenital nephrotic syndrome, Finnish type
p.Leu16_Leu17insTer Single submitter congenital nephrotic syndrome, Finnish type
p.Leu214Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Leu24Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Leu334Pro Single submitter congenital nephrotic syndrome, Finnish type
p.Leu37fs Single submitter congenital nephrotic syndrome, Finnish type
p.Leu649fs Single submitter congenital nephrotic syndrome, Finnish type
p.Leu947Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Leu96Gln Single submitter
p.Lys426fs Single submitter congenital nephrotic syndrome, Finnish type
p.Lys848fs Single submitter congenital nephrotic syndrome, Finnish type
p.Met1Ile Single submitter congenital nephrotic syndrome, Finnish type
p.Phe238fs Single submitter congenital nephrotic syndrome, Finnish type
p.Phe420Val Single submitter NPHS1-related disorder
p.Pro1233fs Single submitter congenital nephrotic syndrome, Finnish type
p.Pro142fs Single submitter congenital nephrotic syndrome, Finnish type
p.Pro243Leu Single submitter congenital nephrotic syndrome, Finnish type
p.Pro38fs Single submitter congenital nephrotic syndrome, Finnish type
p.Pro472fs Single submitter congenital nephrotic syndrome, Finnish type
p.Pro545del Single submitter congenital nephrotic syndrome, Finnish type
p.Pro58fs Single submitter congenital nephrotic syndrome, Finnish type
p.Pro838Thr Single submitter congenital nephrotic syndrome, Finnish type
p.Ser1042fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ser162fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ser191fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ser350Tyr Single submitter ⚠
p.Ser360fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ser366Asn Single submitter
p.Ser507fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ser534fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ser613fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ser613Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Ser627fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ser671fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ser937fs Single submitter congenital nephrotic syndrome, Finnish type
p.Ser951fs Single submitter congenital nephrotic syndrome, Finnish type
p.Thr149fs Single submitter congenital nephrotic syndrome, Finnish type
p.Thr876_Lys877insTer Single submitter congenital nephrotic syndrome, Finnish type
p.Trp1086Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Trp1119Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Trp1205fs Single submitter congenital nephrotic syndrome, Finnish type
p.Trp247fs Single submitter congenital nephrotic syndrome, Finnish type
p.Trp875fs Single submitter congenital nephrotic syndrome, Finnish type
p.Val1110fs Single submitter congenital nephrotic syndrome, Finnish type
p.Val148fs Single submitter congenital nephrotic syndrome, Finnish type
p.Val301fs Single submitter congenital nephrotic syndrome, Finnish type
p.Val485fs Single submitter congenital nephrotic syndrome, Finnish type
p.Val55fs Single submitter congenital nephrotic syndrome, Finnish type
p.Val736Met Single submitter congenital nephrotic syndrome, Finnish type
p.Val753fs Single submitter congenital nephrotic syndrome, Finnish type
p.Val834del Single submitter congenital nephrotic syndrome, Finnish type
p.Val834Phe Single submitter congenital nephrotic syndrome, Finnish type
p.Val957Glu Single submitter congenital nephrotic syndrome, Finnish type
c.1013-1G>C No assertion criteria congenital nephrotic syndrome, Finnish type
c.1316-2A>G No assertion criteria congenital nephrotic syndrome, Finnish type
c.1931-1G>A No assertion criteria congenital nephrotic syndrome, Finnish type
c.2664-4_2670del No assertion criteria congenital nephrotic syndrome, Finnish type
c.2815+5G>A No assertion criteria congenital nephrotic syndrome, Finnish type
c.2816-4_2822del No assertion criteria congenital nephrotic syndrome, Finnish type
c.3167-1G>A No assertion criteria congenital nephrotic syndrome, Finnish type
c.3312-1G>A No assertion criteria congenital nephrotic syndrome, Finnish type
c.3388-2A>G No assertion criteria congenital nephrotic syndrome, Finnish type
c.397+2T>C No assertion criteria congenital nephrotic syndrome, Finnish type
c.526+5G>C No assertion criteria congenital nephrotic syndrome, Finnish type
p.Ala296Thr No assertion criteria congenital nephrotic syndrome, Finnish type ⚠
p.Ala419Thr No assertion criteria NPHS1-related disorder
p.Ala457fs No assertion criteria congenital nephrotic syndrome, Finnish type
p.Ala739Val No assertion criteria congenital nephrotic syndrome, Finnish type ⚠
p.Arg379fs No assertion criteria congenital nephrotic syndrome, Finnish type
p.Arg743fs No assertion criteria congenital nephrotic syndrome, Finnish type
p.Arg802Pro No assertion criteria congenital nephrotic syndrome, Finnish type ⚠
p.Asn673Lys No assertion criteria congenital nephrotic syndrome, Finnish type
p.Asn924fs No assertion criteria congenital nephrotic syndrome, Finnish type
p.Cys417Phe No assertion criteria congenital nephrotic syndrome, Finnish type
p.Cys528Phe No assertion criteria congenital nephrotic syndrome, Finnish type
p.Gln380Ter No assertion criteria congenital nephrotic syndrome, Finnish type
p.Glu199fs No assertion criteria congenital nephrotic syndrome, Finnish type
p.Gly1161Val No assertion criteria congenital nephrotic syndrome, Finnish type ⚠
p.Gly270_Asn271insTer No assertion criteria congenital nephrotic syndrome, Finnish type
p.Gly531Val No assertion criteria
p.Gly59fs No assertion criteria congenital nephrotic syndrome, Finnish type
p.Gly601Arg No assertion criteria congenital nephrotic syndrome, Finnish type
p.His1039fs No assertion criteria congenital nephrotic syndrome, Finnish type
p.Ile171Asn No assertion criteria congenital nephrotic syndrome, Finnish type
p.Ile173Asn No assertion criteria congenital nephrotic syndrome, Finnish type
p.Ile742Thr No assertion criteria congenital nephrotic syndrome, Finnish type
p.Leu16fs No assertion criteria congenital nephrotic syndrome, Finnish type
p.Leu610Gln No assertion criteria congenital nephrotic syndrome, Finnish type
p.Leu832Pro No assertion criteria congenital nephrotic syndrome, Finnish type
p.Pro575Gln No assertion criteria congenital nephrotic syndrome, Finnish type ⚠
p.Ser221fs No assertion criteria congenital nephrotic syndrome, Finnish type
p.Ser724Cys No assertion criteria congenital nephrotic syndrome, Finnish type
p.Thr1120fs No assertion criteria congenital nephrotic syndrome, Finnish type
p.Trp378Ter No assertion criteria congenital nephrotic syndrome, Finnish type
p.Trp64Ser No assertion criteria congenital nephrotic syndrome, Finnish type
p.Trp681Cys No assertion criteria congenital nephrotic syndrome, Finnish type
p.Trp875Ter No assertion criteria congenital nephrotic syndrome, Finnish type
p.Tyr156fs No assertion criteria congenital nephrotic syndrome, Finnish type
p.Val1241fs No assertion criteria congenital nephrotic syndrome, Finnish type
p.Val642Ala No assertion criteria Congenital and infantile nephrotic syndrome

Conflicting classifications of pathogenicity 141

c.1170+8G>A Single submitter focal segmental glomerulosclerosis
c.1315+7C>T Single submitter familial nephrotic syndrome
c.1758-11C>G Single submitter familial nephrotic syndrome
c.1758-8T>G Single submitter familial nephrotic syndrome
c.1930+10C>T Single submitter atypical hemolytic-uremic syndrome
c.2072-5C>T Single submitter congenital nephrotic syndrome, Finnish type
c.2072-6C>A Single submitter congenital nephrotic syndrome, Finnish type
c.2072-6C>G Single submitter congenital nephrotic syndrome, Finnish type
c.2334+9C>A Single submitter familial nephrotic syndrome
c.2506+5G>T Single submitter congenital nephrotic syndrome, Finnish type
c.2507-11T>A Single submitter congenital nephrotic syndrome, Finnish type
c.2507-13C>T Single submitter familial nephrotic syndrome
c.2507-14C>T Single submitter familial nephrotic syndrome
c.275-14G>A Single submitter congenital nephrotic syndrome, Finnish type
c.2928-3del Single submitter congenital nephrotic syndrome, Finnish type
c.3109+3G>T Single submitter kidney disorder
c.3110-5C>T Single submitter focal segmental glomerulosclerosis
c.3287-2A>C Single submitter congenital nephrotic syndrome, Finnish type
c.3311+14T>C Single submitter familial nephrotic syndrome
c.3388-14C>T Single submitter familial nephrotic syndrome
c.3481+4A>T Single submitter congenital nephrotic syndrome, Finnish type
c.59-5C>G Single submitter congenital nephrotic syndrome, Finnish type
c.609-10C>T Single submitter congenital nephrotic syndrome, Finnish type
c.713-10T>C Single submitter congenital nephrotic syndrome, Finnish type
c.-140G>A Single submitter familial nephrotic syndrome
c.-57G>T Single submitter familial nephrotic syndrome
p.Ala1068Thr Single submitter ⚠
p.Ala1078Asp Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala107Thr Single submitter NPHS1-related disorder ⚠
p.Ala107Val Single submitter NPHS1-related disorder
p.Ala1188Thr Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala22Val Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala296Val Single submitter Inborn genetic diseases ⚠
p.Ala313Val Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala524Thr Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala540Glu Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala597Asp Single submitter congenital nephrotic syndrome, Finnish type
p.Ala712Ser Single submitter Inborn genetic diseases ⚠
p.Ala823= Single submitter familial nephrotic syndrome
p.Ala912Thr Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala916Ser Single submitter kidney disorder ⚠
p.Arg1008= Single submitter congenital nephrotic syndrome, Finnish type
p.Arg1092His Single submitter familial nephrotic syndrome ⚠
p.Arg1123Gly Single submitter ⚠
p.Arg1140His Single submitter Inborn genetic diseases ⚠
p.Arg207Gln Single submitter Inborn genetic diseases ⚠
p.Arg256Trp Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg268Gln Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg299Cys Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg367His Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg407Gln Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg456Gln Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg460Trp Single submitter familial nephrotic syndrome ⚠
p.Arg496Ser Single submitter Microscopic hematuria ⚠
p.Arg800Cys Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg800His Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg802Gln Single submitter nephrotic syndrome ⚠
p.Arg831His Single submitter Inborn genetic diseases ⚠
p.Arg864Cys Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg864His Single submitter focal segmental glomerulosclerosis ⚠
p.Arg866Gln Single submitter Inborn genetic diseases ⚠
p.Asn188Ile Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Asp1208fs Single submitter congenital nephrotic syndrome, Finnish type
p.Asp164= Single submitter familial nephrotic syndrome
p.Asp781Glu Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Asp942= Single submitter congenital nephrotic syndrome, Finnish type
p.Cys265Ser Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gln839= Single submitter focal segmental glomerulosclerosis
p.Gln885= Single submitter congenital nephrotic syndrome, Finnish type
p.Glu1044Lys Single submitter Inborn genetic diseases ⚠
p.Glu1113Lys Single submitter familial nephrotic syndrome ⚠
p.Glu199= Single submitter familial nephrotic syndrome
p.Glu246Lys Single submitter Inborn genetic diseases ⚠
p.Glu39Lys Single submitter focal segmental glomerulosclerosis ⚠
p.Glu447Lys Single submitter congenital nephrotic syndrome, Finnish type
p.Glu45Lys Single submitter Inborn genetic diseases ⚠
p.Glu583Lys Single submitter congenital nephrotic syndrome, Finnish type
p.Glu663= Single submitter familial nephrotic syndrome
p.Gly1083= Single submitter congenital nephrotic syndrome, Finnish type
p.Gly15Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly241Glu Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly331Ser Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly347Glu Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly395Ser Single submitter familial nephrotic syndrome
p.Gly412Cys Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly601Ala Single submitter congenital nephrotic syndrome, Finnish type
p.Gly879= Single submitter congenital nephrotic syndrome, Finnish type
p.Gly958Glu Single submitter Inborn genetic diseases ⚠
p.His1174Tyr Single submitter familial nephrotic syndrome ⚠
p.Ile245Leu Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ile446Asn Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Leu129Phe Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Leu237Pro Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Leu578= Single submitter focal segmental glomerulosclerosis
p.Leu969= Single submitter familial nephrotic syndrome
p.Lys136Arg Single submitter familial nephrotic syndrome ⚠
p.Lys430Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Lys600Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Lys848Thr Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Met384Thr Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Pro1185Leu Single submitter Inborn genetic diseases ⚠
p.Pro1200Ser Single submitter familial nephrotic syndrome ⚠
p.Pro1229= Single submitter familial nephrotic syndrome
p.Pro206Thr Single submitter congenital nephrotic syndrome, Finnish type
p.Pro264Gln Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Pro340His Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Pro674Thr Single submitter NPHS1-related disorder ⚠
p.Ser1055= Single submitter congenital nephrotic syndrome, Finnish type
p.Ser1058Leu Single submitter familial nephrotic syndrome ⚠
p.Ser220Ala Single submitter NPHS1-related disorder ⚠
p.Ser350Phe Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ser572Gly Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ser928= Single submitter congenital nephrotic syndrome, Finnish type
p.Thr1034Ala Single submitter Inborn genetic diseases ⚠
p.Thr1051Ala Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Thr1129Pro Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Thr1152= Single submitter
p.Thr1152Met Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Thr1182Met Single submitter Inborn genetic diseases ⚠
p.Thr172del Single submitter NPHS1-related disorder
p.Thr233Ala Single submitter focal segmental glomerulosclerosis ⚠
p.Thr42= Single submitter familial nephrotic syndrome
p.Thr537Met Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Thr546= Single submitter familial nephrotic syndrome
p.Thr5Met Single submitter familial nephrotic syndrome ⚠
p.Thr633= Single submitter familial nephrotic syndrome
p.Thr921Ala Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Tyr1009= Single submitter familial nephrotic syndrome
p.Tyr1217Asp Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Tyr638Cys Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Tyr987= Single submitter familial nephrotic syndrome
p.Val1241Ala Single submitter Inborn genetic diseases ⚠
p.Val187Met Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Val216Leu Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Val266Met Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Val370= Single submitter familial nephrotic syndrome
p.Val43Ala Single submitter familial nephrotic syndrome ⚠
p.Val608Ile Single submitter familial nephrotic syndrome ⚠
p.Val642= Single submitter familial nephrotic syndrome
p.Val957Leu Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly968Cys No assertion criteria congenital nephrotic syndrome, Finnish type ⚠

Benign 40

c.1012+68A>G Multiple submitters congenital nephrotic syndrome, Finnish type
c.1171-86C>T Multiple submitters congenital nephrotic syndrome, Finnish type
c.1440+19C>T Multiple submitters congenital nephrotic syndrome, Finnish type
c.1627+89A>G Multiple submitters
c.2213-107C>T Multiple submitters
c.2213-99= Multiple submitters
c.2334+192C>T Multiple submitters
c.3286+36C>T Multiple submitters congenital nephrotic syndrome, Finnish type
c.3287-54C>T Multiple submitters congenital nephrotic syndrome, Finnish type
c.3481+45C>T Multiple submitters congenital nephrotic syndrome, Finnish type
c.3594+221G>A Multiple submitters
c.3595-36C>G Multiple submitters
c.397+61A>G Multiple submitters congenital nephrotic syndrome, Finnish type
c.398-62G>A Multiple submitters
c.398-66T>C Multiple submitters
c.840+26A>T Multiple submitters
c.-489GA[10] Multiple submitters congenital nephrotic syndrome, Finnish type
c.-81C>G Multiple submitters congenital nephrotic syndrome, Finnish type
c.*146T>C Multiple submitters familial nephrotic syndrome
c.*457A>G Multiple submitters familial nephrotic syndrome
p.Asn1077Ser Multiple submitters familial nephrotic syndrome
p.Glu117Lys Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ile98= Multiple submitters familial nephrotic syndrome
p.Pro440= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Thr741= Multiple submitters familial nephrotic syndrome
c.1170+9G>A Single submitter congenital nephrotic syndrome, Finnish type
c.1628-10del Single submitter
c.2815+290C>T Single submitter
c.2816-223del Single submitter
c.3110-3del Single submitter
c.3312-19del Single submitter
c.527-254C>G Single submitter
c.609-302T>C Single submitter
c.-261del Single submitter
c.-262_-261del Single submitter
c.-340G>C Single submitter
c.*1119A>C Single submitter familial nephrotic syndrome
p.Arg802= Single submitter
p.Glu588Gly Single submitter
p.Phe1234= Single submitter congenital nephrotic syndrome, Finnish type

Benign/Likely benign 24

c.1930+12G>A Multiple submitters familial nephrotic syndrome
c.1931-33_1931-31del Multiple submitters
c.2072-6C>T Multiple submitters congenital nephrotic syndrome, Finnish type
c.2335-17G>A Multiple submitters
c.2507-20G>A Multiple submitters
c.2816-16A>G Multiple submitters
c.3482-7A>T Multiple submitters congenital nephrotic syndrome, Finnish type
c.3595-9G>T Multiple submitters focal segmental glomerulosclerosis
c.397+15C>T Multiple submitters familial nephrotic syndrome
c.59-19C>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.840+6G>A Multiple submitters focal segmental glomerulosclerosis
p.Arg1140Ser Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg408Gln Multiple submitters atypical hemolytic-uremic syndrome
p.Asn411= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Glu1107= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gly506= Multiple submitters
p.Leu132= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Leu392Pro Multiple submitters familial nephrotic syndrome
p.Pro264Arg Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser176= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Thr233= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Thr294Ile Multiple submitters familial nephrotic syndrome
p.Tyr915= Multiple submitters
p.Val991Leu Multiple submitters focal segmental glomerulosclerosis

Likely benign 893

Showing the top 300 by review status; the full set is in the sitemap.

c.1012+17G>C Multiple submitters congenital nephrotic syndrome, Finnish type
c.1012+72A>G Multiple submitters
c.1316-6C>T Multiple submitters congenital nephrotic syndrome, Finnish type
c.1441-4G>A Multiple submitters
c.1930+140A>G Multiple submitters
c.1931-92A>G Multiple submitters
c.2212+10_2212+27dup Multiple submitters
c.2212+76C>T Multiple submitters
c.2664-7T>C Multiple submitters congenital nephrotic syndrome, Finnish type
c.2927+13C>T Multiple submitters
c.2927+14G>A Multiple submitters
c.3110-190C>T Multiple submitters
c.3110-8C>T Multiple submitters
c.3387+9G>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.3482-7A>C Multiple submitters congenital nephrotic syndrome, Finnish type
c.3594+13G>T Multiple submitters congenital nephrotic syndrome, Finnish type
c.3594+9C>T Multiple submitters congenital nephrotic syndrome, Finnish type
c.59-16C>T Multiple submitters
c.608+124C>T Multiple submitters
c.840+7dup Multiple submitters
c.841-12C>G Multiple submitters congenital nephrotic syndrome, Finnish type
c.841-18G>T Multiple submitters
c.-61G>A Multiple submitters familial nephrotic syndrome
c.*538G>A Multiple submitters familial nephrotic syndrome
p.Ala1068= Multiple submitters
p.Ala313= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg52His Multiple submitters
p.Arg645= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Arg82= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Asn186= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Asn188= Multiple submitters
p.Asn436= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Asn878= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Asn908= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gln532= Multiple submitters
p.Glu143= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Glu385= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Glu841= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gly1238= Multiple submitters
p.Gly190= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gly377= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gly395= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Gly72= Multiple submitters
p.Gly958= Multiple submitters congenital nephrotic syndrome, Finnish type
p.His330= Multiple submitters
p.Ile131= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Leu1038= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Leu139= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Leu666= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser104= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser1076= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser1146= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser432= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Thr1182= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Thr305= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Thr6Met Multiple submitters Inborn genetic diseases
p.Thr798= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Thr874= Multiple submitters
p.Val1081= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Val234Met Multiple submitters Inborn genetic diseases
p.Val516= Multiple submitters
p.Val753= Multiple submitters congenital nephrotic syndrome, Finnish type
p.Val990= Multiple submitters congenital nephrotic syndrome, Finnish type
c.1012+10G>C Single submitter
c.1012+20G>A Single submitter
c.1012+30C>T Single submitter congenital nephrotic syndrome, Finnish type
c.1013-10G>C Single submitter
c.1013-12C>A Single submitter
c.1013-17C>T Single submitter
c.1013-20T>C Single submitter
c.1013-5T>C Single submitter
c.1013-7C>T Single submitter
c.1013-9T>C Single submitter
c.1170+10G>A Single submitter
c.1170+12G>A Single submitter
c.1170+14C>T Single submitter
c.1170+17G>A Single submitter
c.1170+17G>C Single submitter
c.1170+18C>A Single submitter
c.1171-11C>T Single submitter
c.1171-19G>A Single submitter
c.1171-4C>T Single submitter
c.1171-8C>T Single submitter
c.1315+11G>A Single submitter
c.1315+12C>A Single submitter
c.1315+15T>C Single submitter
c.1316-10del Single submitter
c.1316-18C>T Single submitter
c.1316-4C>A Single submitter
c.1316-5G>A Single submitter
c.1316-5G>C Single submitter
c.1316-5G>T Single submitter
c.1316-9C>T Single submitter
c.1440+10A>C Single submitter
c.1440+11C>T Single submitter
c.1440+12G>A Single submitter
c.1440+13_1440+15dup Single submitter
c.1440+14del Single submitter
c.1440+8C>T Single submitter
c.1440+9C>T Single submitter
c.1441-10C>T Single submitter
c.1441-11C>T Single submitter
c.1441-12C>G Single submitter
c.1441-13T>G Single submitter
c.1441-16C>T Single submitter
c.1441-20_1441-19del Single submitter
c.1441-310G>C Single submitter
c.1441-5C>T Single submitter
c.1441-6C>T Single submitter
c.1441-7C>T Single submitter
c.1441-8G>A Single submitter
c.1627+10C>A Single submitter
c.1627+15T>A Single submitter
c.1627+20A>G Single submitter
c.1627+8C>G Single submitter
c.1627+9T>C Single submitter
c.1628-10C>G Single submitter
c.1628-10C>T Single submitter
c.1628-11C>T Single submitter
c.1628-13C>T Single submitter
c.1628-4C>T Single submitter
c.1628-5C>T Single submitter
c.1757+11G>T Single submitter
c.1757+17T>A Single submitter
c.1757+18C>A Single submitter
c.1757+7G>C Single submitter
c.1757+9G>A Single submitter
c.1757+9G>T Single submitter
c.1758-10G>C Single submitter
c.1758-12C>G Single submitter
c.1758-13C>T Single submitter
c.1758-14C>A Single submitter
c.1758-15A>G Single submitter
c.1758-16G>T Single submitter
c.1758-9G>C Single submitter
c.1758-9G>T Single submitter
c.1930+11C>T Single submitter
c.1930+13G>T Single submitter
c.1930+8C>T Single submitter
c.1930+9C>T Single submitter
c.1931-10C>T Single submitter
c.1931-12C>A Single submitter
c.1931-12C>T Single submitter
c.1931-18G>T Single submitter
c.1931-20C>T Single submitter
c.1931-236T>C Single submitter
c.2071+10G>C Single submitter
c.2071+18G>A Single submitter
c.2071+7G>A Single submitter
c.2072-10C>T Single submitter
c.2072-11G>A Single submitter
c.2072-17A>C Single submitter
c.2072-18T>C Single submitter
c.2072-20C>G Single submitter
c.2072-20C>T Single submitter
c.2072-3del Single submitter
c.2072-4C>A Single submitter
c.2072-4C>G Single submitter
c.2072-8T>G Single submitter
c.2212+12C>T Single submitter
c.2212+13C>A Single submitter
c.2212+16C>T Single submitter
c.2212+17_2212+34del Single submitter
c.2212+17A>G Single submitter
c.2212+18T>C Single submitter
c.2212+18T>G Single submitter
c.2212+8C>G Single submitter
c.2212+9C>T Single submitter
c.2213-17C>T Single submitter
c.2213-4C>T Single submitter
c.2213-5A>G Single submitter
c.2213-8T>C Single submitter
c.2334+11A>G Single submitter
c.2334+7A>T Single submitter congenital nephrotic syndrome, Finnish type
c.2334+9C>T Single submitter congenital nephrotic syndrome, Finnish type
c.2335-11T>C Single submitter
c.2335-13C>T Single submitter
c.2335-17G>T Single submitter
c.2335-20C>G Single submitter
c.2335-20C>T Single submitter
c.2335-6C>T Single submitter
c.2335-7C>T Single submitter
c.2335-8G>A Single submitter
c.2506+10A>C Single submitter
c.2506+12C>T Single submitter
c.2506+13C>A Single submitter
c.2506+15A>G Single submitter
c.2506+16A>C Single submitter
c.2506+17C>T Single submitter
c.2506+18_2506+19del Single submitter
c.2506+19C>G Single submitter
c.2506+7A>G Single submitter
c.2506+8T>C Single submitter
c.2507-19A>T Single submitter
c.2507-8C>A Single submitter
c.2507-8C>G Single submitter
c.2507-9C>T Single submitter
c.2663+16G>A Single submitter
c.2663+9A>G Single submitter
c.2664-13_2664-10dup Single submitter
c.2664-16C>A Single submitter
c.2664-16C>T Single submitter
c.2664-17_2664-14dup Single submitter
c.2664-17C>T Single submitter
c.2664-18G>T Single submitter
c.2664-4C>T Single submitter
c.2664-5T>C Single submitter
c.274+11A>C Single submitter
c.274+14G>A Single submitter
c.274+7G>A Single submitter
c.274+9T>C Single submitter
c.275-10C>T Single submitter
c.275-12C>T Single submitter
c.275-13G>A Single submitter
c.275-15C>T Single submitter
c.275-5del Single submitter
c.275-6C>T Single submitter
c.275-7C>T Single submitter
c.2815+10G>C Single submitter congenital nephrotic syndrome, Finnish type
c.2815+14G>T Single submitter
c.2815+18G>A Single submitter
c.2815+19G>A Single submitter
c.2815+8G>T Single submitter
c.2815+95C>T Single submitter
c.2815+9G>A Single submitter
c.2816-15T>C Single submitter
c.2816-16A>T Single submitter
c.2816-187T>C Single submitter
c.2816-18C>G Single submitter
c.2816-20dup Single submitter
c.2816-6C>G Single submitter
c.2816-8C>T Single submitter
c.2927+14G>T Single submitter
c.2927+24G>C Single submitter congenital nephrotic syndrome, Finnish type
c.2927+8C>T Single submitter
c.2928-11C>G Single submitter
c.2928-13C>T Single submitter
c.2928-15C>G Single submitter
c.2928-16dup Single submitter
c.2928-16T>A Single submitter
c.2928-16T>C Single submitter
c.2928-17A>G Single submitter
c.2928-18T>C Single submitter
c.2928-4G>T Single submitter
c.2928-7_2928-5del Single submitter
c.2928-8T>A Single submitter
c.3109+13G>A Single submitter
c.3109+7A>G Single submitter
c.3109+8G>A Single submitter
c.3109+9G>A Single submitter
c.3110-11C>T Single submitter
c.3110-13A>C Single submitter
c.3110-13A>G Single submitter
c.3110-20T>C Single submitter
c.3110-3dup Single submitter
c.3110-5C>A Single submitter
c.3110-7C>A Single submitter
c.3110-7C>T Single submitter
c.3166+13T>C Single submitter
c.3166+14C>G Single submitter
c.3166+16C>G Single submitter
c.3166+18T>C Single submitter
c.3166+18T>G Single submitter
c.3166+19G>T Single submitter
c.3166+8C>T Single submitter
c.3167-10C>T Single submitter
c.3167-17G>A Single submitter
c.3167-18G>T Single submitter
c.3167-19G>T Single submitter
c.3167-4C>T Single submitter
c.3167-5C>T Single submitter
c.3167-8A>G Single submitter congenital nephrotic syndrome, Finnish type
c.3167-9C>T Single submitter
c.3286+10G>A Single submitter
c.3286+11A>C Single submitter
c.3286+12C>G Single submitter
c.3286+14C>G Single submitter
c.3286+17C>T Single submitter
c.3286+18C>T Single submitter
c.3286+8G>A Single submitter
c.3287-11G>A Single submitter congenital nephrotic syndrome, Finnish type
c.3287-13C>T Single submitter
c.3287-18T>C Single submitter
c.3287-6C>T Single submitter
c.3287-7C>G Single submitter
c.3287-7C>T Single submitter
c.3311+10G>A Single submitter
c.3311+13A>C Single submitter
c.3311+19C>T Single submitter
c.3311+48G>A Single submitter
c.3311+9G>A Single submitter
c.3312-14C>T Single submitter
c.3312-15C>T Single submitter
c.3312-16A>G Single submitter
c.3312-17C>A Single submitter
c.3312-17C>T Single submitter
c.3312-18A>G Single submitter
c.3312-19C>G Single submitter
c.3312-19C>T Single submitter
c.3312-20C>A Single submitter

Uncertain significance 485

Showing the top 300 by review status; the full set is in the sitemap.

c.1931-16G>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.2335-11T>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.527-40G>A Multiple submitters congenital nephrotic syndrome, Finnish type
c.58+3G>T Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ala325Ser Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Ala457Val Multiple submitters Inborn genetic diseases ⚠
p.Ala597Thr Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Ala765Val Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Ala813Thr Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Ala916Thr Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Ala9Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg1088Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg1092Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1140Cys Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Arg115Cys Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Arg256Gln Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Arg827Gln Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Arg835Thr Multiple submitters Inborn genetic diseases
p.Arg972Ser Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Asn159Tyr Multiple submitters Inborn genetic diseases ⚠
p.Asp1223Asn Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Asp1223Val Multiple submitters Inborn genetic diseases ⚠
p.Asp581Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp942Glu Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Cys1080Ser Multiple submitters Inborn genetic diseases ⚠
p.Gln178Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln839Leu Multiple submitters Inborn genetic diseases ⚠
p.Gln896Glu Multiple submitters familial nephrotic syndrome ⚠
p.Glu1122Gln Multiple submitters Inborn genetic diseases ⚠
p.Glu143Gln Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Glu143Val Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Glu725Lys Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Glu782Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu99Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly1222Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly1222Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly15Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly412Ser Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Gly685Asp Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Gly685Cys Multiple submitters ⚠
p.His1239Leu Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.His720Pro Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.His842Pro Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Ile871Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1069Pro Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Leu1072Ile Multiple submitters NPHS1-related disorder ⚠
p.Leu215Gln Multiple submitters ⚠
p.Leu237Gln Multiple submitters Microscopic hematuria ⚠
p.Leu490_Arg495dup Multiple submitters congenital nephrotic syndrome, Finnish type
p.Leu533Pro Multiple submitters familial nephrotic syndrome ⚠
p.Leu734Arg Multiple submitters familial nephrotic syndrome ⚠
p.Lys582Glu Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Met389Thr Multiple submitters Inborn genetic diseases ⚠
p.Met399Thr Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Phe526Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro1054Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro1061Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro1147Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro222Leu Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Pro73Leu Multiple submitters familial nephrotic syndrome ⚠
p.Pro838Ser Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Pro845Thr Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Pro887Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser162Cys Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Ser209Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser29Phe Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Ser432Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser475Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser488Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser536Pro Multiple submitters congenital nephrotic syndrome, Finnish type
p.Ser902Asn Multiple submitters familial nephrotic syndrome ⚠
p.Ser937Asn Multiple submitters NPHS1-related disorder ⚠
p.Thr1101Lys Multiple submitters Inborn genetic diseases ⚠
p.Thr1182Ala Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Thr205Ser Multiple submitters familial nephrotic syndrome ⚠
p.Thr414Ala Multiple submitters nephrotic syndrome ⚠
p.Thr890Met Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Thr999Met Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Tyr1158Phe Multiple submitters Inborn genetic diseases ⚠
p.Tyr1217Cys Multiple submitters Inborn genetic diseases ⚠
p.Val157Met Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Val204Met Multiple submitters Inborn genetic diseases ⚠
p.Val306Met Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Val370Ile Multiple submitters Inborn genetic diseases ⚠
p.Val437Ile Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Val502Met Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Val621Leu Multiple submitters Inborn genetic diseases ⚠
p.Val621Met Multiple submitters congenital nephrotic syndrome, Finnish type
p.Val833Leu Multiple submitters Inborn genetic diseases ⚠
p.Val899Ile Multiple submitters congenital nephrotic syndrome, Finnish type ⚠
p.Val909Met Multiple submitters Inborn genetic diseases ⚠
c.1170+7C>T Single submitter congenital nephrotic syndrome, Finnish type
c.1315+14C>T Single submitter congenital nephrotic syndrome, Finnish type
c.1627+6G>A Single submitter congenital nephrotic syndrome, Finnish type
c.1757+4G>T Single submitter
c.1758-10G>A Single submitter congenital nephrotic syndrome, Finnish type
c.1930+20A>G Single submitter congenital nephrotic syndrome, Finnish type
c.1931-34A>G Single submitter congenital nephrotic syndrome, Finnish type
c.2072-12G>A Single submitter congenital nephrotic syndrome, Finnish type
c.2335-3C>T Single submitter
c.2335-9G>A Single submitter
c.275-22T>G Single submitter congenital nephrotic syndrome, Finnish type
c.2815+3A>G Single submitter congenital nephrotic syndrome, Finnish type
c.2815+4T>C Single submitter
c.3110-3C>G Single submitter congenital nephrotic syndrome, Finnish type
c.3166+14C>A Single submitter familial nephrotic syndrome
c.3286+6G>C Single submitter
c.3311+8G>A Single submitter congenital nephrotic syndrome, Finnish type
c.3481+1G>A Single submitter congenital nephrotic syndrome, Finnish type
c.3481+5G>T Single submitter congenital nephrotic syndrome, Finnish type
c.3482-3C>G Single submitter Inborn genetic diseases
c.3482-7A>G Single submitter congenital nephrotic syndrome, Finnish type
c.3594+5G>A Single submitter congenital nephrotic syndrome, Finnish type
c.527-7C>A Single submitter congenital nephrotic syndrome, Finnish type
c.59-16C>A Single submitter
c.59-9T>G Single submitter focal segmental glomerulosclerosis
c.609-9T>G Single submitter congenital nephrotic syndrome, Finnish type
c.822_840+6dup Single submitter congenital nephrotic syndrome, Finnish type
c.840+5G>C Single submitter
c.-31C>T Single submitter familial nephrotic syndrome
c.-3G>A Single submitter
c.*1020C>T Single submitter familial nephrotic syndrome
c.*1021G>A Single submitter familial nephrotic syndrome
c.*1040C>T Single submitter familial nephrotic syndrome
c.*1111G>T Single submitter familial nephrotic syndrome
c.*250G>A Single submitter familial nephrotic syndrome
c.*272G>A Single submitter familial nephrotic syndrome
c.*272G>T Single submitter familial nephrotic syndrome
c.*287C>T Single submitter familial nephrotic syndrome
c.*419C>T Single submitter familial nephrotic syndrome
c.*483G>A Single submitter familial nephrotic syndrome
c.*529C>T Single submitter familial nephrotic syndrome
c.*609G>A Single submitter familial nephrotic syndrome
c.*751C>T Single submitter familial nephrotic syndrome
c.*757T>C Single submitter familial nephrotic syndrome
c.*759A>T Single submitter familial nephrotic syndrome
c.*760T>C Single submitter familial nephrotic syndrome
c.*765C>T Single submitter familial nephrotic syndrome
c.*82G>T Single submitter familial nephrotic syndrome
c.*865T>C Single submitter familial nephrotic syndrome
c.*888A>G Single submitter familial nephrotic syndrome
c.*958G>T Single submitter familial nephrotic syndrome
c.*962G>A Single submitter familial nephrotic syndrome
p.Ala100Ser Single submitter familial nephrotic syndrome ⚠
p.Ala107Glu Single submitter congenital nephrotic syndrome, Finnish type
p.Ala165Thr Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala200Thr Single submitter Inborn genetic diseases ⚠
p.Ala22Ser Single submitter Inborn genetic diseases ⚠
p.Ala274Pro Single submitter Inborn genetic diseases ⚠
p.Ala28Pro Single submitter Inborn genetic diseases ⚠
p.Ala28Val Single submitter Inborn genetic diseases ⚠
p.Ala296= Single submitter focal segmental glomerulosclerosis
p.Ala36Thr Single submitter Inborn genetic diseases ⚠
p.Ala441Thr Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala47Thr Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala556Ser Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala597Val Single submitter ⚠
p.Ala625Val Single submitter Inborn genetic diseases ⚠
p.Ala672Ser Single submitter ⚠
p.Ala675Val Single submitter ⚠
p.Ala691Glu Single submitter familial nephrotic syndrome ⚠
p.Ala739Pro Single submitter Inborn genetic diseases ⚠
p.Ala811Ser Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala813Val Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala823Val Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala907Thr Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala90Asp Single submitter Inborn genetic diseases ⚠
p.Ala922Asp Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ala925Ser Single submitter Inborn genetic diseases ⚠
p.Arg1010Ser Single submitter ⚠
p.Arg1088Trp Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg1123Trp Single submitter Inborn genetic diseases ⚠
p.Arg115Leu Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg1160Gln Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg1160Pro Single submitter Inborn genetic diseases ⚠
p.Arg256Gly Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg256Leu Single submitter ⚠
p.Arg299His Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg32Gln Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg369Trp Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg408Trp Single submitter Inborn genetic diseases
p.Arg456Trp Single submitter Inborn genetic diseases ⚠
p.Arg462Ser Single submitter
p.Arg489Trp Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg620Cys Single submitter Inborn genetic diseases ⚠
p.Arg624Cys Single submitter Inborn genetic diseases ⚠
p.Arg624Leu Single submitter familial nephrotic syndrome ⚠
p.Arg684Cys Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg743Ser Single submitter ⚠
p.Arg777Lys Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg828Gln Single submitter Inborn genetic diseases ⚠
p.Arg84Cys Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Arg84Pro Single submitter ⚠
p.Arg940Cys Single submitter Inborn genetic diseases ⚠
p.Arg940His Single submitter ⚠
p.Asn411Asp Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Asn573Lys Single submitter Inborn genetic diseases ⚠
p.Asn641Ser Single submitter Inborn genetic diseases ⚠
p.Asn774= Single submitter
p.Asn820Ser Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Asn878Asp Single submitter Inborn genetic diseases ⚠
p.Asn878Ile Single submitter ⚠
p.Asp1166Glu Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Asp1177del Single submitter congenital nephrotic syndrome, Finnish type
p.Asp170His Single submitter Inborn genetic diseases ⚠
p.Asp182Ala Single submitter ⚠
p.Asp390Tyr Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Asp481Tyr Single submitter Inborn genetic diseases ⚠
p.Asp714Asn Single submitter Inborn genetic diseases ⚠
p.Asp735His Single submitter ⚠
p.Asp764Asn Single submitter Inborn genetic diseases ⚠
p.Asp88Glu Single submitter ⚠
p.Asp88Tyr Single submitter Inborn genetic diseases ⚠
p.Asp88Val Single submitter Inborn genetic diseases ⚠
p.Cys1080Gly Single submitter ⚠
p.Cys816Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Cys920Gly Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gln1040Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gln112Leu Single submitter ⚠
p.Gln1197Ter Single submitter congenital nephrotic syndrome, Finnish type
p.Gln328Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gln442Glu Single submitter Inborn genetic diseases ⚠
p.Gln885Leu Single submitter familial nephrotic syndrome ⚠
p.Gln971Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Glu1155Gly Single submitter ⚠
p.Glu1155Lys Single submitter ⚠
p.Glu121Asp Single submitter Inborn genetic diseases ⚠
p.Glu225Gln Single submitter ⚠
p.Glu385Gly Single submitter ⚠
p.Glu45Gln Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Glu677Lys Single submitter Inborn genetic diseases ⚠
p.Glu750Gly Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Glu782Asp Single submitter Inborn genetic diseases ⚠
p.Gly1020Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly1082Arg Single submitter ⚠
p.Gly1082Val Single submitter ⚠
p.Gly1083Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly1096Ser Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly1104_Ser1105= Single submitter
p.Gly1161Ser Single submitter NPHS1-related disorder ⚠
p.Gly1173Arg Single submitter Inborn genetic diseases ⚠
p.Gly1190Glu Single submitter Inborn genetic diseases ⚠
p.Gly1215Arg Single submitter ⚠
p.Gly258Ala Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly270Arg Single submitter ⚠
p.Gly347Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly347Val Single submitter ⚠
p.Gly448Arg Single submitter familial nephrotic syndrome ⚠
p.Gly469Glu Single submitter Inborn genetic diseases ⚠
p.Gly46Glu Single submitter Inborn genetic diseases ⚠
p.Gly46Trp Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly4Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly584Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly693Ser Single submitter Inborn genetic diseases ⚠
p.Gly72Val Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly779Val Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly796Ala Single submitter ⚠
p.Gly79Cys Single submitter Inborn genetic diseases ⚠
p.Gly812= Single submitter familial nephrotic syndrome
p.Gly879Arg Single submitter ⚠
p.Gly879Glu Single submitter Inborn genetic diseases ⚠
p.Gly87Glu Single submitter congenital nephrotic syndrome, Finnish type
p.Gly87Trp Single submitter Inborn genetic diseases ⚠
p.Gly967Trp Single submitter ⚠
p.Gly967Val Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Gly981Val Single submitter Inborn genetic diseases ⚠
p.His1204Gln Single submitter Inborn genetic diseases ⚠
p.His254Tyr Single submitter Inborn genetic diseases ⚠
p.His311Arg Single submitter Inborn genetic diseases ⚠
p.His311Asn Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.His320Arg Single submitter Inborn genetic diseases ⚠
p.His320Gln Single submitter Inborn genetic diseases ⚠
p.His617Arg Single submitter ⚠
p.His696Arg Single submitter ⚠
p.His737Pro Single submitter ⚠
p.His805Tyr Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.His95Tyr Single submitter Inborn genetic diseases ⚠
p.His97Leu Single submitter Inborn genetic diseases ⚠
p.Ile397Leu Single submitter ⚠
p.Ile759Thr Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Ile933Phe Single submitter congenital nephrotic syndrome, Finnish type
p.Ile975Phe Single submitter congenital nephrotic syndrome, Finnish type
p.Leu1227Val Single submitter ⚠
p.Leu279Pro Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Leu376Val Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Leu402Pro Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Leu433Phe Single submitter familial nephrotic syndrome ⚠
p.Leu499Val Single submitter Inborn genetic diseases ⚠
p.Leu640Arg Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Leu704Val Single submitter Inborn genetic diseases ⚠
p.Leu70Phe Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Leu71= Single submitter congenital nephrotic syndrome, Finnish type
p.Leu71Pro Single submitter ⚠
p.Leu734Pro Single submitter Inborn genetic diseases ⚠
p.Leu769Phe Single submitter ⚠
p.Leu7Phe Single submitter Inborn genetic diseases ⚠
p.Leu801Gln Single submitter congenital nephrotic syndrome, Finnish type ⚠
p.Leu884Pro Single submitter ⚠
p.Leu903His Single submitter Inborn genetic diseases ⚠
p.Leu903Pro Single submitter congenital nephrotic syndrome, Finnish type ⚠