GSN — 951 ClinVar variants

All ClinVar germline GSN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 420 flagged for review →

3 Pathogenic · 2 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 58 Conflicting · 49 Benign · 38 Benign/Likely benign · 294 Likely benign · 506 Uncertain significance

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

⚑ Evidence disagreements 420

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 agree, ClinVar conflicts 30

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

GSN c.-9-2068T>G Conflicting Single submitter
Inborn genetic diseases
GSN p.Ala237Thr Conflicting Single submitter
Inborn genetic diseases
GSN p.Ala237Val Conflicting Single submitter
GSN p.Ala241Val Conflicting Single submitter
Inborn genetic diseases
GSN p.Ala482Thr Conflicting Single submitter
Inborn genetic diseases
GSN p.Ala519Thr Conflicting Single submitter
Inborn genetic diseases
GSN p.Ala551Thr Conflicting Single submitter
Finnish type amyloidosis
GSN p.Arg145His Conflicting Single submitter
Inborn genetic diseases
GSN p.Arg197Gln Conflicting Single submitter
Inborn genetic diseases
GSN p.Arg21Cys Conflicting Single submitter
Inborn genetic diseases
GSN p.Arg368Gln Conflicting Single submitter
Inborn genetic diseases
GSN p.Arg526Gln Conflicting Single submitter
Inborn genetic diseases
GSN p.Arg687Gln Conflicting Single submitter
Finnish type amyloidosis
GSN p.Arg690Gln Conflicting Single submitter
Inborn genetic diseases
GSN p.Arg91Leu Conflicting Single submitter
GSN p.Arg91Trp Conflicting Single submitter
Inborn genetic diseases
GSN p.Asp391Asn Conflicting Single submitter
Finnish type amyloidosis
GSN p.Glu529Lys Conflicting Single submitter
Finnish type amyloidosis
GSN p.Gly143Arg Conflicting Single submitter
Finnish type amyloidosis
GSN p.Gly387Ser Conflicting Single submitter
Inborn genetic diseases
GSN p.Gly394Ser Conflicting Single submitter
Inborn genetic diseases
GSN p.Pro411Ser Conflicting Single submitter
Inborn genetic diseases
GSN p.Ser473Gly Conflicting Single submitter
Inborn genetic diseases
GSN p.Val133Met Conflicting Single submitter
Finnish type amyloidosis
GSN p.Val209Met Conflicting Single submitter
Inborn genetic diseases
GSN p.Val366Met Conflicting Single submitter
Inborn genetic diseases
GSN p.Val3Leu Conflicting Single submitter
Finnish type amyloidosis
GSN p.Val45Ile Conflicting Single submitter
Inborn genetic diseases
GSN p.Val629Ala Conflicting Single submitter
Inborn genetic diseases
GSN p.Val647Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 292

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 292

GSN c.-9-1983C>T Uncertain significance Multiple submitters
Inborn genetic diseases
GSN c.-9-1986C>T Uncertain significance Multiple submitters
Inborn genetic diseases
GSN c.-9-1987G>A Uncertain significance Multiple submitters
Inborn genetic diseases
GSN c.-9-2022C>T Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN c.-9-2026C>T Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN c.-9-2043C>G Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN c.-9-2077G>A Uncertain significance Multiple submitters
Inborn genetic diseases
GSN c.-9-2088G>T Uncertain significance Multiple submitters
Inborn genetic diseases
GSN c.-9-2091A>G Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Ala218Val Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Ala231Val Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Ala271Thr Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Ala274Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Ala453Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Ala460Val Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Ala524Val Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Ala685Gly Uncertain significance Multiple submitters
GSN p.Arg137Ile Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Arg144Trp Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Arg197Trp Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Arg206Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Arg21His Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Arg346Gln Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Arg434His Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Arg474Cys Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Arg518His Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Arg575Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Arg601His Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Arg605Trp Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Arg627His Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Arg678Trp Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Arg687Trp Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Arg689Trp Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Arg91Gln Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Arg96Cys Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Asn182Lys Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Asn254Ser Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Asn428Ser Uncertain significance Multiple submitters
GSN p.Asn54Lys Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Asn686Ser Uncertain significance Multiple submitters
GSN-related disorder
GSN p.Asp26Asn Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Gln350Arg Uncertain significance Multiple submitters
GSN p.Gln397Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Glu132Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Glu217Lys Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Glu234Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Glu402Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Glu503Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Glu681Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Glu7Lys Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Gly108Ser Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Gly273Arg Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Gly333Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Gly596Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Gly90Val Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Ile425Phe Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Ile79Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Leu618Phe Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Leu61Phe Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Leu9Phe Uncertain significance Multiple submitters
GSN p.Lys194Arg Uncertain significance Multiple submitters
GSN p.Lys251Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Lys607Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Met493Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Met648Val Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Met726Val Uncertain significance Multiple submitters
GSN p.Phe281Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Ser103Leu Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Ser327Leu Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Thr301Met Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Thr335Ser Uncertain significance Multiple submitters
GSN p.Thr351Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Thr40Met Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Thr557Ala Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Thr81Ala Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Trp442Arg Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Tyr440Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Tyr44Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Val133Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Val152Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Val261Ile Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN c.-2G>A Uncertain significance Single submitter
GSN c.-4C>G Uncertain significance Single submitter
Finnish type amyloidosis
GSN c.-9-1959G>T Uncertain significance Single submitter
GSN c.-9-1990G>T Uncertain significance Single submitter
GSN c.-9-2001C>T Uncertain significance Single submitter
GSN c.-9-2010C>T Uncertain significance Single submitter
GSN c.-9-2013C>A Uncertain significance Single submitter
GSN c.-9-2014G>A Uncertain significance Single submitter
GSN c.-9-2016C>T Uncertain significance Single submitter
Finnish type amyloidosis
GSN c.-9-2023G>A Uncertain significance Single submitter
GSN c.-9-2023G>T Uncertain significance Single submitter
GSN c.-9-2025G>T Uncertain significance Single submitter
GSN c.-9-2043C>T Uncertain significance Single submitter
GSN c.-9-2044G>A Uncertain significance Single submitter
GSN c.-9-2046G>T Uncertain significance Single submitter
GSN c.-9-2052C>T Uncertain significance Single submitter
GSN c.-9-2058C>T Uncertain significance Single submitter
GSN c.-9-2059T>C Uncertain significance Single submitter
GSN c.-9-2064C>T Uncertain significance Single submitter
GSN c.-9-2067G>C Uncertain significance Single submitter
Inborn genetic diseases
GSN c.-9-2079C>T Uncertain significance Single submitter
GSN c.-9-2082C>T Uncertain significance Single submitter
GSN c.-9-2088G>A Uncertain significance Single submitter
GSN c.-9-2088G>C Uncertain significance Single submitter
Finnish type amyloidosis
GSN c.-9-2090C>G Uncertain significance Single submitter
Inborn genetic diseases
GSN c.-9-2091A>C Uncertain significance Single submitter
Inborn genetic diseases
GSN c.-9-2094C>T Uncertain significance Single submitter
GSN p.Ala189Ser Uncertain significance Single submitter
GSN p.Ala205Asp Uncertain significance Single submitter
GSN p.Ala218Gly Uncertain significance Single submitter
GSN p.Ala228Ser Uncertain significance Single submitter
GSN p.Ala231Ser Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.Ala241Thr Uncertain significance Single submitter
GSN p.Ala256Gly Uncertain significance Single submitter
GSN p.Ala274Ser Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.Ala374Thr Uncertain significance Single submitter
GSN p.Ala43Thr Uncertain significance Single submitter
GSN p.Ala508Thr Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.Ala522Thr Uncertain significance Single submitter
GSN p.Ala527Ser Uncertain significance Single submitter
GSN p.Ala559Thr Uncertain significance Single submitter
GSN p.Ala567Asp Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Ala599Val Uncertain significance Single submitter
GSN p.Ala672Asp Uncertain significance Single submitter
GSN p.Ala672Gly Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Ala672Val Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.Ala76Glu Uncertain significance Single submitter
GSN p.Ala92Ser Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Arg137Gly Uncertain significance Single submitter
GSN p.Arg145Leu Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Arg204Trp Uncertain significance Single submitter
GSN p.Arg206Leu Uncertain significance Single submitter
GSN p.Arg244His Uncertain significance Single submitter
GSN p.Arg400Thr Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Arg430His Uncertain significance Single submitter
GSN p.Arg53Gly Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.Arg572Gly Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Arg575Gly Uncertain significance Single submitter
GSN p.Arg575Leu Uncertain significance Single submitter
GSN p.Arg601Cys Uncertain significance Single submitter
GSN p.Arg605Gln Uncertain significance Single submitter
GSN p.Arg627Cys Uncertain significance Single submitter
GSN p.Arg678Gln Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.Arg689Gln Uncertain significance Single submitter
GSN p.Arg689Gly Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Arg690Trp Uncertain significance Single submitter
GSN p.Arg724Lys Uncertain significance Single submitter
GSN p.Arg91Gly Uncertain significance Single submitter
GSN p.Arg96His Uncertain significance Single submitter
Finnish type amyloidosis

Predictors split 98

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

GSN p.Ala205Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Ala76Val Benign/Likely benign Multiple submitters
GSN p.Arg144Gln Likely benign Multiple submitters
Inborn genetic diseases
GSN p.Arg148His Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Arg201Gln Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Arg204Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Arg434Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Arg575Trp Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Asn160Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Asn268Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Gly162Ser Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Gly170Ala Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Gly213Asp Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Gly478Asp Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Leu722Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Lys624Glu Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Met259Thr Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Phe25Leu Benign/Likely benign Multiple submitters
GSN p.Phe417Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Pro230Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Pro330Leu Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Pro481Thr Uncertain significance Multiple submitters
Finnish type amyloidosis
GSN p.Pro532Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Thr691Met Uncertain significance Multiple submitters
Inborn genetic diseases
GSN p.Val93Met Uncertain significance Multiple submitters
GSN c.-9-2046G>A Uncertain significance Single submitter
GSN c.-9-2050C>A Uncertain significance Single submitter
GSN c.-9-2061T>C Uncertain significance Single submitter
GSN p.Ala205Gly Uncertain significance Single submitter
GSN p.Ala247Val Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Ala384Thr Uncertain significance Single submitter
GSN p.Ala456Ser Uncertain significance Single submitter
GSN p.Ala542Thr Uncertain significance Single submitter
GSN p.Ala567Thr Uncertain significance Single submitter
GSN p.Ala620Thr Uncertain significance Single submitter
GSN p.Ala643Thr Uncertain significance Single submitter
GSN p.Ala672Thr Uncertain significance Single submitter
GSN p.Ala725Asp Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Ala77Thr Uncertain significance Single submitter
GSN p.Ala78Gly Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.Arg183Gln Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Arg183Trp Conflicting Single submitter
Inborn genetic diseases
GSN p.Arg201Trp Uncertain significance Single submitter
GSN p.Arg244Cys Uncertain significance Single submitter
GSN p.Arg244Leu Uncertain significance Single submitter
GSN p.Arg346Trp Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Arg368Trp Uncertain significance Single submitter
GSN p.Arg502Cys Uncertain significance Single submitter
GSN p.Arg502Leu Uncertain significance Single submitter
GSN p.Arg502Ser Uncertain significance Single submitter
GSN p.Arg513Cys Uncertain significance Single submitter
GSN p.Arg513His Conflicting Single submitter
Inborn genetic diseases
GSN p.Asn441Ile Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.Asn441Lys Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Asp26Tyr Uncertain significance Single submitter
GSN p.Asp372Glu Uncertain significance Single submitter
GSN p.Asp37Ala Uncertain significance Single submitter
GSN p.Asp37Gly Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Asp450Glu Uncertain significance Single submitter
GSN p.Asp588Tyr Conflicting Single submitter
Inborn genetic diseases
GSN p.Cys621Phe Uncertain significance Single submitter
GSN p.Cys621Tyr Uncertain significance Single submitter
GSN p.Gly286Ser Conflicting Single submitter
Inborn genetic diseases
GSN p.Gly333Asp Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Gly333Val Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.Gly355Asp Uncertain significance Single submitter
GSN p.Gly419Glu Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.Gly566Glu Uncertain significance Single submitter
GSN p.His127Leu Uncertain significance Single submitter
GSN p.His174Gln Uncertain significance Single submitter
GSN p.His5Asn Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.His95Tyr Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Leu107Val Uncertain significance Single submitter
GSN p.Leu27Pro Uncertain significance Single submitter
GSN p.Lys194Glu Uncertain significance Single submitter
GSN p.Lys564Asn Uncertain significance Single submitter
GSN p.Lys564Glu Conflicting Single submitter
Finnish type amyloidosis
GSN p.Met219Ile Uncertain significance Single submitter
GSN p.Phe38Leu Uncertain significance Single submitter
GSN p.Phe80Ser Uncertain significance Single submitter
GSN p.Pro15Ser Uncertain significance Single submitter
GSN p.Pro227Leu Uncertain significance Single submitter
GSN p.Pro330Ser Uncertain significance Single submitter
GSN p.Pro481Ser Uncertain significance Single submitter
GSN p.Pro532Thr Uncertain significance Single submitter
GSN p.Pro548Leu Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Pro634His Uncertain significance Single submitter
GSN p.Pro692Thr Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.Pro703Ser Uncertain significance Single submitter
Finnish type amyloidosis
GSN p.Ser260Phe Uncertain significance Single submitter
GSN p.Thr512Pro Uncertain significance Single submitter
GSN p.Thr682Lys Uncertain significance Single submitter
Inborn genetic diseases
GSN p.Val128Leu Uncertain significance Single submitter
GSN p.Val30Met Uncertain significance Single submitter
GSN p.Val475Leu Conflicting Single submitter
Finnish type amyloidosis
GSN p.Val475Met Uncertain significance Single submitter
GSN p.Val93Leu Uncertain significance Single submitter
GSN p.Gly699Asp Uncertain significance No assertion criteria
GSN-related disorder

All GSN variants

Pathogenic 3

p.Asn160Lys Multiple submitters Finnish type amyloidosis
p.Tyr250Cys No assertion criteria Finnish type amyloidosis
p.Tyr423His No assertion criteria Finnish type amyloidosis

Pathogenic/Likely pathogenic 2

p.Asp163Asn Multiple submitters GSN-related disorders
p.Asp163Tyr Multiple submitters Finnish type amyloidosis

Likely pathogenic 1

c.-9-1987dup Single submitter Finnish type amyloidosis

Conflicting classifications of pathogenicity 58

c.1191+4C>T Single submitter Inborn genetic diseases
c.1588-5C>T Single submitter Inborn genetic diseases
c.1763-7C>G Single submitter Finnish type amyloidosis
c.352-8C>A Single submitter
c.886+12A>C Single submitter Finnish type amyloidosis
c.-9-2021G>A Single submitter Inborn genetic diseases
c.-9-2057_-9-2037del Single submitter Finnish type amyloidosis
c.-9-2068T>G Single submitter Inborn genetic diseases ⚠
c.-9-2079_-9-2035del Single submitter Inborn genetic diseases
c.-9-2091_-9-2064del Single submitter Inborn genetic diseases
p.Ala237Thr Single submitter Inborn genetic diseases ⚠
p.Ala237Val Single submitter ⚠
p.Ala241Val Single submitter Inborn genetic diseases ⚠
p.Ala482Thr Single submitter Inborn genetic diseases ⚠
p.Ala519Thr Single submitter Inborn genetic diseases ⚠
p.Ala551Thr Single submitter Finnish type amyloidosis ⚠
p.Ala76= Single submitter Finnish type amyloidosis
p.Arg145His Single submitter Inborn genetic diseases ⚠
p.Arg183Trp Single submitter Inborn genetic diseases ⚠
p.Arg197Gln Single submitter Inborn genetic diseases ⚠
p.Arg21Cys Single submitter Inborn genetic diseases ⚠
p.Arg368Gln Single submitter Inborn genetic diseases ⚠
p.Arg474His Single submitter Inborn genetic diseases
p.Arg502= Single submitter Finnish type amyloidosis
p.Arg513His Single submitter Inborn genetic diseases ⚠
p.Arg526Gln Single submitter Inborn genetic diseases ⚠
p.Arg687Gln Single submitter Finnish type amyloidosis ⚠
p.Arg690Gln Single submitter Inborn genetic diseases ⚠
p.Arg91Leu Single submitter ⚠
p.Arg91Trp Single submitter Inborn genetic diseases ⚠
p.Asn171= Single submitter Inborn genetic diseases
p.Asp163= Single submitter Finnish type amyloidosis
p.Asp391Asn Single submitter Finnish type amyloidosis ⚠
p.Asp588Tyr Single submitter Inborn genetic diseases ⚠
p.Glu529Lys Single submitter Finnish type amyloidosis ⚠
p.Glu668del Single submitter Finnish type amyloidosis
p.Gly143Arg Single submitter Finnish type amyloidosis ⚠
p.Gly286Ser Single submitter Inborn genetic diseases ⚠
p.Gly387Ser Single submitter Inborn genetic diseases ⚠
p.Gly394Ser Single submitter Inborn genetic diseases ⚠
p.Gly467Arg Single submitter Inborn genetic diseases
p.Gly504= Single submitter Finnish type amyloidosis
p.Gly595= Single submitter Finnish type amyloidosis
p.Lys295= Single submitter Finnish type amyloidosis
p.Lys564Glu Single submitter Finnish type amyloidosis ⚠
p.Pro29= Single submitter Finnish type amyloidosis
p.Pro411Ser Single submitter Inborn genetic diseases ⚠
p.Ser327= Single submitter Finnish type amyloidosis
p.Ser473Gly Single submitter Inborn genetic diseases ⚠
p.Tyr418Cys Single submitter Inborn genetic diseases
p.Val133Met Single submitter Finnish type amyloidosis ⚠
p.Val209Met Single submitter Inborn genetic diseases ⚠
p.Val366Met Single submitter Inborn genetic diseases ⚠
p.Val3Leu Single submitter Finnish type amyloidosis ⚠
p.Val45Ile Single submitter Inborn genetic diseases ⚠
p.Val475Leu Single submitter Finnish type amyloidosis ⚠
p.Val629Ala Single submitter Inborn genetic diseases ⚠
p.Val647Ile Single submitter Inborn genetic diseases ⚠

Benign 49

c.1192-75C>T Multiple submitters
c.1417-22T>C Multiple submitters Finnish type amyloidosis
c.1417-59A>G Multiple submitters
c.1588-76G>T Multiple submitters
c.1763-34G>A Multiple submitters Finnish type amyloidosis
c.1965+192G>A Multiple submitters
c.2026+36T>C Multiple submitters
c.2027-122A>T Multiple submitters
c.351+173G>A Multiple submitters
c.513+53T>C Multiple submitters
c.514-197G>A Multiple submitters
c.663+199G>C Multiple submitters
c.663+25T>G Multiple submitters
c.664-196G>A Multiple submitters
c.753+28G>A Multiple submitters
c.754-11C>T Multiple submitters Finnish type amyloidosis
c.975+43G>C Multiple submitters
c.-10+1155C>T Multiple submitters
c.-10+4458G>A Multiple submitters
c.-10+4621T>C Multiple submitters
c.-9-2278G>A Multiple submitters
c.-9-2339C>T Multiple submitters
p.Ala78Thr Multiple submitters Finnish type amyloidosis
p.Asn180Asp Multiple submitters Finnish type amyloidosis
p.Glu211Gln Multiple submitters
p.Gly420= Multiple submitters Finnish type amyloidosis
p.Lys10Arg Multiple submitters Finnish type amyloidosis
p.Phe705= Multiple submitters Finnish type amyloidosis
p.Ser262= Multiple submitters
p.Thr512Ser Multiple submitters Finnish type amyloidosis
p.Thr565Met Multiple submitters Finnish type amyloidosis
c.1192-126G>A Single submitter
c.1326-7del Single submitter
c.1416+108TCCA[10] Single submitter
c.1416+108TCCA[12] Single submitter
c.1416+108TCCA[9] Single submitter
c.1587+46A>G Single submitter
c.1588-77del Single submitter
c.1762+11G>A Single submitter
c.1887+12C>T Single submitter
c.2026+19G>A Single submitter
c.-10+4288C>T Single submitter
c.-10+4781A>G Single submitter
c.-9-185C>G Single submitter
c.-9-1942del Single submitter
c.-9-1942dup Single submitter
c.-9-2000G>T Single submitter
c.-9-2406C>T Single submitter
p.Gly55Arg Single submitter Finnish type amyloidosis

Benign/Likely benign 38

c.1191+14G>A Multiple submitters Finnish type amyloidosis
c.1416+16C>T Multiple submitters Finnish type amyloidosis
c.1762+20del Multiple submitters Finnish type amyloidosis
c.1887+11G>T Multiple submitters Finnish type amyloidosis
c.196+7C>T Multiple submitters Finnish type amyloidosis
c.197-4G>A Multiple submitters Inborn genetic diseases
c.2026+23del Multiple submitters
c.513+19T>C Multiple submitters Finnish type amyloidosis
c.664-4A>G Multiple submitters Finnish type amyloidosis
c.886+19G>T Multiple submitters Finnish type amyloidosis
c.-9-1967C>T Multiple submitters Finnish type amyloidosis
c.-9-2084C>G Multiple submitters
p.Ala43Ser Multiple submitters Inborn genetic diseases
p.Ala576Gly Multiple submitters Inborn genetic diseases
p.Ala76Val Multiple submitters ⚠
p.Arg430Cys Multiple submitters Inborn genetic diseases
p.Arg617Leu Multiple submitters Finnish type amyloidosis
p.Asn199= Multiple submitters Finnish type amyloidosis
p.Asp390= Multiple submitters Inborn genetic diseases
p.Gly505Arg Multiple submitters Inborn genetic diseases
p.His62= Multiple submitters Finnish type amyloidosis
p.Ile495= Multiple submitters Finnish type amyloidosis
p.Ile625Thr Multiple submitters Inborn genetic diseases
p.Leu337= Multiple submitters Finnish type amyloidosis
p.Leu594= Multiple submitters Inborn genetic diseases
p.Lys546Arg Multiple submitters Finnish type amyloidosis
p.Phe25Leu Multiple submitters ⚠
p.Ser521= Multiple submitters Inborn genetic diseases
p.Ser560= Multiple submitters Finnish type amyloidosis
p.Thr413= Multiple submitters Inborn genetic diseases
p.Thr644= Multiple submitters Finnish type amyloidosis
p.Thr644Met Multiple submitters Inborn genetic diseases
p.Thr682= Multiple submitters Inborn genetic diseases
p.Tyr496Cys Multiple submitters Inborn genetic diseases
p.Val128Met Multiple submitters Finnish type amyloidosis
p.Val366= Multiple submitters Finnish type amyloidosis
p.Val409Met Multiple submitters Finnish type amyloidosis
p.Val555Met Multiple submitters Finnish type amyloidosis

Likely benign 294

c.1325+14G>A Multiple submitters Finnish type amyloidosis
c.1416+17G>A Multiple submitters Finnish type amyloidosis
c.1587+11G>C Multiple submitters
c.1762+19G>A Multiple submitters Finnish type amyloidosis
c.1763-10C>T Multiple submitters Finnish type amyloidosis
c.197-5C>T Multiple submitters Inborn genetic diseases
c.514-11C>G Multiple submitters Finnish type amyloidosis
c.754-8C>T Multiple submitters Finnish type amyloidosis
c.886+10A>G Multiple submitters Finnish type amyloidosis
c.886+19G>A Multiple submitters Finnish type amyloidosis
c.-9-1942G>A Multiple submitters Finnish type amyloidosis
c.-9-1943G>A Multiple submitters Finnish type amyloidosis
c.-9-1951G>T Multiple submitters Finnish type amyloidosis
c.-9-1962C>A Multiple submitters Inborn genetic diseases
c.-9-1982C>T Multiple submitters
c.-9-2063G>A Multiple submitters
p.Ala241= Multiple submitters Inborn genetic diseases
p.Ala247= Multiple submitters Finnish type amyloidosis
p.Ala92= Multiple submitters Finnish type amyloidosis
p.Arg144Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn131= Multiple submitters Finnish type amyloidosis
p.Asn365= Multiple submitters
p.Asn89= Multiple submitters
p.Asp42= Multiple submitters Finnish type amyloidosis
p.Gly41= Multiple submitters Inborn genetic diseases
p.His208= Multiple submitters
p.His386= Multiple submitters
p.His95= Multiple submitters Finnish type amyloidosis
p.Ile680= Multiple submitters Finnish type amyloidosis
p.Phe101= Multiple submitters Finnish type amyloidosis
p.Phe39= Multiple submitters
p.Pro348= Multiple submitters
p.Ser277= Multiple submitters
p.Ser585= Multiple submitters
p.Ser74= Multiple submitters
p.Thr316Asn Multiple submitters Inborn genetic diseases
p.Thr565= Multiple submitters
p.Thr682Met Multiple submitters Finnish type amyloidosis
p.Thr694= Multiple submitters Finnish type amyloidosis
c.1191+13C>T Single submitter
c.1191+16G>A Single submitter
c.1191+7T>C Single submitter
c.1191+9A>G Single submitter
c.1192-7C>T Single submitter
c.1192-8T>C Single submitter
c.1326-10C>A Single submitter
c.1326-14A>C Single submitter
c.1326-3dup Single submitter
c.1326-4C>T Single submitter
c.1326-8C>T Single submitter
c.1416+14A>G Single submitter
c.1416+19C>G Single submitter
c.1417-10T>G Single submitter
c.1417-16C>G Single submitter
c.1417-20C>T Single submitter
c.1587+8C>T Single submitter
c.1588-12G>A Single submitter
c.1588-17A>C Single submitter
c.1588-4C>T Single submitter
c.1588-9C>T Single submitter
c.1762+15G>C Single submitter
c.1762+19_1762+20del Single submitter
c.1762+20G>A Single submitter
c.1762+20G>C Single submitter
c.1762+9C>T Single submitter
c.1763-17G>A Single submitter
c.1763-18C>T Single submitter
c.1763-24_1763-13del Single submitter
c.1763-7C>T Single submitter
c.1763-8C>T Single submitter
c.1763-9C>A Single submitter
c.1887+11G>A Single submitter
c.1887+13G>A Single submitter
c.1888-12G>A Single submitter
c.1888-12G>T Single submitter
c.1888-13C>T Single submitter
c.1888-19C>G Single submitter
c.1888-4C>G Single submitter
c.196+25_196+36dup Single submitter
c.1965+13C>A Single submitter
c.1965+16G>A Single submitter
c.1966-11C>G Single submitter
c.1966-15G>A Single submitter
c.1966-6C>T Single submitter
c.197-14C>T Single submitter
c.197-15T>C Single submitter
c.197-17G>A Single submitter
c.197-20A>G Single submitter
c.197-4G>T Single submitter
c.197-7C>G Single submitter
c.197-7C>T Single submitter
c.2026+10C>G Single submitter
c.2026+11G>A Single submitter
c.2026+13G>A Single submitter
c.2026+15del Single submitter
c.2026+9C>T Single submitter
c.2027-10G>A Single submitter
c.2027-12G>A Single submitter
c.2027-13C>T Single submitter
c.2027-32G>A Single submitter
c.2027-9T>G Single submitter
c.351+10G>A Single submitter
c.351+16C>T Single submitter
c.351+17C>T Single submitter
c.352-10G>C Single submitter
c.352-15T>G Single submitter
c.352-19T>C Single submitter
c.513+15C>T Single submitter
c.514-126G>A Single submitter
c.514-19C>G Single submitter
c.663+15_663+26del Single submitter
c.663+15C>T Single submitter
c.663+16G>A Single submitter
c.663+17C>A Single submitter
c.663+18A>G Single submitter
c.663+19A>G Single submitter
c.664-11A>C Single submitter
c.664-11A>G Single submitter
c.753+14G>A Single submitter
c.753+19G>A Single submitter
c.754-10del Single submitter
c.754-10G>A Single submitter
c.754-13T>C Single submitter
c.754-6C>T Single submitter
c.754-9T>C Single submitter
c.886+10A>T Single submitter
c.886+11_886+12dup Single submitter
c.886+11C>T Single submitter
c.886+12A>G Single submitter
c.886+15G>C Single submitter
c.886+17A>G Single submitter
c.887-18T>A Single submitter
c.975+14G>A Single submitter
c.975+18G>C Single submitter
c.975+8T>C Single submitter
c.975+9T>C Single submitter
c.-10+2T>A Single submitter
c.-10+4572C>A Single submitter
c.-10+4632C>T Single submitter
c.-10+894A>G Single submitter
c.-4C>T Single submitter
c.-7C>G Single submitter
c.-7C>T Single submitter
c.-9-14C>G Single submitter
c.-9-1942G>T Single submitter
c.-9-1944G>A Single submitter
c.-9-1947G>A Single submitter
c.-9-1947G>T Single submitter
c.-9-1948C>T Single submitter
c.-9-1964G>A Single submitter
c.-9-1985G>A Single submitter
c.-9-1991G>A Single submitter
c.-9-1997C>A Single submitter
c.-9-2006G>A Single submitter
c.-9-2009G>A Single submitter
c.-9-2012G>A Single submitter
c.-9-2018C>T Single submitter
c.-9-2030C>A Single submitter
c.-9-2030C>T Single submitter
c.-9-2035C>T Single submitter
c.-9-2039G>C Single submitter
c.-9-2072G>T Single submitter
c.-9-2084C>T Single submitter
c.-9-20T>C Single submitter
c.-9-8C>G Single submitter
c.*9A>G Single submitter
p.Ala11= Single submitter
p.Ala189= Single submitter
p.Ala205= Single submitter
p.Ala218= Single submitter
p.Ala242= Single submitter
p.Ala373= Single submitter
p.Ala383= Single submitter
p.Ala454= Single submitter
p.Ala524= Single submitter
p.Ala527= Single submitter
p.Ala536= Single submitter
p.Ala550= Single submitter
p.Ala567= Single submitter
p.Ala576= Single submitter
p.Ala613= Single submitter
p.Ala725= Single submitter
p.Ala77= Single submitter
p.Arg144= Single submitter
p.Arg304= Single submitter
p.Arg368= Single submitter
p.Arg400= Single submitter
p.Arg434= Single submitter
p.Arg526Leu Single submitter
p.Arg678= Single submitter
p.Asn172= Single submitter
p.Asn54= Single submitter
p.Asp235Asn Single submitter
p.Asp372= Single submitter
p.Asp391His Single submitter
p.Asp421= Single submitter
p.Asp60= Single submitter
p.Asp608Asn Single submitter Inborn genetic diseases
p.Asp646= Single submitter
p.Gln140= Single submitter
p.Gln298= Single submitter
p.Gln340= Single submitter
p.Gln385= Single submitter
p.Gln446= Single submitter
p.Glu132= Single submitter
p.Glu157= Single submitter
p.Glu212= Single submitter
p.Glu23= Single submitter
p.Glu302= Single submitter Inborn genetic diseases
p.Glu367= Single submitter
p.Gly120= Single submitter
p.Gly143= Single submitter
p.Gly162= Single submitter
p.Gly195= Single submitter
p.Gly332= Single submitter
p.Gly498= Single submitter
p.Gly505= Single submitter
p.Gly584= Single submitter
p.Gly75= Single submitter
p.Gly90= Single submitter
p.His285= Single submitter
p.His5= Single submitter
p.Ile363= Single submitter
p.Ile401= Single submitter
p.Ile630= Single submitter
p.Leu138= Single submitter
p.Leu229= Single submitter
p.Leu246= Single submitter
p.Leu263= Single submitter
p.Leu458= Single submitter
p.Leu466= Single submitter
p.Leu52= Single submitter
p.Leu57= Single submitter
p.Leu606= Single submitter
p.Leu618= Single submitter
p.Leu642= Single submitter
p.Leu722= Single submitter
p.Leu84= Single submitter
p.Leu9= Single submitter
p.Lys10= Single submitter
p.Lys188= Single submitter
p.Lys305= Single submitter
p.Lys322= Single submitter
p.Lys610= Single submitter
p.Phe125= Single submitter
p.Phe25= Single submitter
p.Phe270= Single submitter
p.Phe292= Single submitter
p.Phe342= Single submitter
p.Phe371= Single submitter
p.Phe543= Single submitter
p.Phe628= Single submitter
p.Pro227= Single submitter
p.Pro321= Single submitter
p.Pro408= Single submitter
p.Pro481= Single submitter
p.Pro492= Single submitter
p.Pro6= Single submitter
p.Ser103= Single submitter
p.Ser179= Single submitter
p.Ser260= Single submitter
p.Ser360= Single submitter
p.Ser361= Single submitter
p.Ser422= Single submitter
p.Ser473= Single submitter
p.Ser511= Single submitter
p.Thr150= Single submitter
p.Thr233= Single submitter
p.Thr236= Single submitter
p.Thr301= Single submitter
p.Thr32= Single submitter
p.Thr378= Single submitter
p.Thr380= Single submitter
p.Thr40= Single submitter
p.Thr469= Single submitter
p.Thr49= Single submitter
p.Thr500= Single submitter
p.Thr691= Single submitter
p.Thr81= Single submitter
p.Tyr184= Single submitter
p.Tyr44= Single submitter
p.Tyr59= Single submitter
p.Val128= Single submitter
p.Val22= Single submitter
p.Val30= Single submitter
p.Val407= Single submitter
p.Val452= Single submitter
p.Val555= Single submitter
p.Val581= Single submitter
p.Val658= Single submitter
p.Val695= Single submitter
p.Val696= Single submitter
c.-10+4624G>T No assertion criteria GSN-related disorder
c.-10+908C>T No assertion criteria GSN-related disorder

Uncertain significance 506

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

c.1762+2T>C Multiple submitters Finnish type amyloidosis
c.513+1G>A Multiple submitters Finnish type amyloidosis
c.753+1G>A Multiple submitters Inborn genetic diseases
c.754-1G>T Multiple submitters Finnish type amyloidosis
c.-9-1981C>T Multiple submitters Finnish type amyloidosis
c.-9-1983C>T Multiple submitters Inborn genetic diseases ⚠
c.-9-1986C>T Multiple submitters Inborn genetic diseases ⚠
c.-9-1987G>A Multiple submitters Inborn genetic diseases ⚠
c.-9-1999_-9-1985del Multiple submitters Inborn genetic diseases
c.-9-2002dup Multiple submitters
c.-9-2022C>T Multiple submitters Finnish type amyloidosis ⚠
c.-9-2026C>T Multiple submitters Finnish type amyloidosis ⚠
c.-9-2043C>G Multiple submitters Finnish type amyloidosis ⚠
c.-9-2057_-9-2037dup Multiple submitters Inborn genetic diseases
c.-9-2058_-9-2047dup Multiple submitters Finnish type amyloidosis
c.-9-2077G>A Multiple submitters Inborn genetic diseases ⚠
c.-9-2084del Multiple submitters Inborn genetic diseases
c.-9-2088G>T Multiple submitters Inborn genetic diseases ⚠
c.-9-2091A>G Multiple submitters Inborn genetic diseases ⚠
c.*98T>A Multiple submitters Finnish type amyloidosis
p.Ala205Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala218Val Multiple submitters Finnish type amyloidosis ⚠
p.Ala231Val Multiple submitters Finnish type amyloidosis ⚠
p.Ala271Thr Multiple submitters Finnish type amyloidosis ⚠
p.Ala274Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala453Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala460Val Multiple submitters Finnish type amyloidosis ⚠
p.Ala524Val Multiple submitters Finnish type amyloidosis ⚠
p.Ala685Gly Multiple submitters ⚠
p.Arg137Ile Multiple submitters Finnish type amyloidosis ⚠
p.Arg144Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg148His Multiple submitters Inborn genetic diseases ⚠
p.Arg197Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg201fs Multiple submitters Inborn genetic diseases
p.Arg201Gln Multiple submitters Finnish type amyloidosis ⚠
p.Arg204Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg206Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg206Ter Multiple submitters Finnish type amyloidosis
p.Arg21His Multiple submitters Inborn genetic diseases ⚠
p.Arg346Gln Multiple submitters Finnish type amyloidosis ⚠
p.Arg434Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg434His Multiple submitters Finnish type amyloidosis ⚠
p.Arg474Cys Multiple submitters Finnish type amyloidosis ⚠
p.Arg518His Multiple submitters Finnish type amyloidosis ⚠
p.Arg526Trp Multiple submitters Finnish type amyloidosis
p.Arg575Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg575Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg601His Multiple submitters Inborn genetic diseases ⚠
p.Arg605Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg617His Multiple submitters Finnish type amyloidosis
p.Arg627His Multiple submitters Inborn genetic diseases ⚠
p.Arg678Trp Multiple submitters Finnish type amyloidosis ⚠
p.Arg687Trp Multiple submitters Finnish type amyloidosis ⚠
p.Arg689Trp Multiple submitters Finnish type amyloidosis ⚠
p.Arg91Gln Multiple submitters Finnish type amyloidosis ⚠
p.Arg96Cys Multiple submitters Finnish type amyloidosis ⚠
p.Asn160Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn182Lys Multiple submitters Finnish type amyloidosis ⚠
p.Asn254Ser Multiple submitters Finnish type amyloidosis ⚠
p.Asn268Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn428Ser Multiple submitters ⚠
p.Asn54Lys Multiple submitters Finnish type amyloidosis ⚠
p.Asn686Ser Multiple submitters GSN-related disorder ⚠
p.Asp26Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp713fs Multiple submitters Finnish type amyloidosis
p.Gln350Arg Multiple submitters ⚠
p.Gln397Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln472Leu Multiple submitters Inborn genetic diseases
p.Gln516His Multiple submitters Inborn genetic diseases
p.Gln639Ter Multiple submitters Finnish type amyloidosis
p.Gln665Ter Multiple submitters Finnish type amyloidosis
p.Glu132Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu217Lys Multiple submitters Finnish type amyloidosis ⚠
p.Glu234Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu402Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu503Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu681Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu7fs Multiple submitters Inborn genetic diseases
p.Glu7Lys Multiple submitters Finnish type amyloidosis ⚠
p.Gly108Ser Multiple submitters Finnish type amyloidosis ⚠
p.Gly162Ser Multiple submitters Finnish type amyloidosis ⚠
p.Gly170Ala Multiple submitters Finnish type amyloidosis ⚠
p.Gly213Asp Multiple submitters Finnish type amyloidosis ⚠
p.Gly273Arg Multiple submitters Finnish type amyloidosis ⚠
p.Gly333Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly387fs Multiple submitters Inborn genetic diseases
p.Gly478Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly596Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly90Ser Multiple submitters Inborn genetic diseases
p.Gly90Val Multiple submitters Inborn genetic diseases ⚠
p.Ile425Phe Multiple submitters Inborn genetic diseases ⚠
p.Ile79Leu Multiple submitters Inborn genetic diseases ⚠
p.Leu618Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu61Phe Multiple submitters Finnish type amyloidosis ⚠
p.Leu722Ser Multiple submitters Inborn genetic diseases ⚠
p.Leu9Phe Multiple submitters ⚠
p.Lys194Arg Multiple submitters ⚠
p.Lys251Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys607Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys624Glu Multiple submitters Finnish type amyloidosis ⚠
p.Met259Thr Multiple submitters Finnish type amyloidosis ⚠
p.Met493Leu Multiple submitters Inborn genetic diseases ⚠
p.Met648Val Multiple submitters Finnish type amyloidosis ⚠
p.Met726Val Multiple submitters ⚠
p.Phe281Leu Multiple submitters Inborn genetic diseases ⚠
p.Phe417Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro230Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro330Leu Multiple submitters Finnish type amyloidosis ⚠
p.Pro481Thr Multiple submitters Finnish type amyloidosis ⚠
p.Pro532Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser103Leu Multiple submitters Finnish type amyloidosis ⚠
p.Ser327Leu Multiple submitters Finnish type amyloidosis ⚠
p.Thr301Met Multiple submitters Finnish type amyloidosis ⚠
p.Thr335Ser Multiple submitters ⚠
p.Thr351Arg Multiple submitters Inborn genetic diseases ⚠
p.Thr40Met Multiple submitters Inborn genetic diseases ⚠
p.Thr557Ala Multiple submitters Finnish type amyloidosis ⚠
p.Thr691Met Multiple submitters Inborn genetic diseases ⚠
p.Thr81Ala Multiple submitters Finnish type amyloidosis ⚠
p.Trp442Arg Multiple submitters Finnish type amyloidosis ⚠
p.Trp554Ter Multiple submitters Finnish type amyloidosis
p.Tyr440Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr44Cys Multiple submitters Inborn genetic diseases ⚠
p.Val133Leu Multiple submitters Inborn genetic diseases ⚠
p.Val152Leu Multiple submitters Inborn genetic diseases ⚠
p.Val261Ile Multiple submitters Finnish type amyloidosis ⚠
p.Val93Met Multiple submitters ⚠
c.1171_1191+1del Single submitter
c.1191+17G>A Single submitter Finnish type amyloidosis
c.1191+1G>T Single submitter
c.1191+5G>A Single submitter
c.1325+4A>G Single submitter
c.1325+6G>C Single submitter
c.1326-1036C>T Single submitter Finnish type amyloidosis
c.1326-12T>A Single submitter Finnish type amyloidosis
c.1326-3C>T Single submitter
c.1417-14T>A Single submitter
c.1587+17G>T Single submitter Finnish type amyloidosis
c.1757_1762+10dup Single submitter
c.1762+2T>A Single submitter
c.1762+3A>C Single submitter Inborn genetic diseases
c.1763-2A>G Single submitter
c.1887+5G>A Single submitter
c.196+5G>A Single submitter
c.1965+4G>A Single submitter Inborn genetic diseases
c.1965+6T>C Single submitter
c.351+1G>A Single submitter Inborn genetic diseases
c.351+2T>C Single submitter
c.351+3G>A Single submitter
c.351+5G>A Single submitter Finnish type amyloidosis
c.663+13T>C Single submitter
c.663+14G>A Single submitter
c.663+3G>A Single submitter Finnish type amyloidosis
c.753+2T>A Single submitter
c.887-3C>G Single submitter
c.887-4A>G Single submitter
c.976-3C>T Single submitter
c.-10+1754dup Single submitter Finnish type amyloidosis
c.-10+5174_-10+5203del Single submitter
c.-10+5185A>T Single submitter
c.-10+5192T>C Single submitter
c.-2G>A Single submitter ⚠
c.-4C>G Single submitter Finnish type amyloidosis ⚠
c.-9-1846_-9-1841del Single submitter
c.-9-1958G>T Single submitter
c.-9-1959G>T Single submitter ⚠
c.-9-1967_-9-1966insACCC Single submitter
c.-9-1968_-9-1954del Single submitter
c.-9-1972del Single submitter
c.-9-1990G>T Single submitter ⚠
c.-9-2001C>T Single submitter ⚠
c.-9-2002del Single submitter Finnish type amyloidosis
c.-9-2010C>T Single submitter ⚠
c.-9-2013C>A Single submitter ⚠
c.-9-2014G>A Single submitter ⚠
c.-9-2016C>T Single submitter Finnish type amyloidosis ⚠
c.-9-2023G>A Single submitter ⚠
c.-9-2023G>T Single submitter ⚠
c.-9-2025G>T Single submitter ⚠
c.-9-2030_-9-1981del Single submitter
c.-9-2043C>T Single submitter ⚠
c.-9-2044G>A Single submitter ⚠
c.-9-2046G>A Single submitter ⚠
c.-9-2046G>T Single submitter ⚠
c.-9-2050C>A Single submitter ⚠
c.-9-2052C>T Single submitter ⚠
c.-9-2053del Single submitter
c.-9-2058C>T Single submitter ⚠
c.-9-2059T>C Single submitter ⚠
c.-9-2061_-9-2032dup Single submitter
c.-9-2061_-9-2045dup Single submitter
c.-9-2061T>C Single submitter ⚠
c.-9-2064C>T Single submitter ⚠
c.-9-2066_-9-2060del Single submitter
c.-9-2067G>C Single submitter Inborn genetic diseases ⚠
c.-9-2079C>T Single submitter ⚠
c.-9-2082C>T Single submitter ⚠
c.-9-2088G>A Single submitter ⚠
c.-9-2088G>C Single submitter Finnish type amyloidosis ⚠
c.-9-2090C>G Single submitter Inborn genetic diseases ⚠
c.-9-2091A>C Single submitter Inborn genetic diseases ⚠
c.-9-2094C>T Single submitter ⚠
c.-9-2101_-9-2095del Single submitter
c.-9-2101A>G Single submitter
c.-9-2137C>T Single submitter Finnish type amyloidosis
c.*126T>C Single submitter Finnish type amyloidosis
c.*185G>A Single submitter Finnish type amyloidosis
c.*194G>A Single submitter Finnish type amyloidosis
c.*205G>A Single submitter Finnish type amyloidosis
c.*28G>A Single submitter Finnish type amyloidosis
c.*97GT[11] Single submitter
p.Ala189Ser Single submitter ⚠
p.Ala205Asp Single submitter ⚠
p.Ala205Gly Single submitter ⚠
p.Ala218Gly Single submitter ⚠
p.Ala228Ser Single submitter ⚠
p.Ala231Ser Single submitter Finnish type amyloidosis ⚠
p.Ala241Thr Single submitter ⚠
p.Ala247Val Single submitter Inborn genetic diseases ⚠
p.Ala256Gly Single submitter ⚠
p.Ala274Ser Single submitter Finnish type amyloidosis ⚠
p.Ala374Thr Single submitter ⚠
p.Ala384Thr Single submitter ⚠
p.Ala412fs Single submitter
p.Ala43Thr Single submitter ⚠
p.Ala454fs Single submitter
p.Ala456Ser Single submitter ⚠
p.Ala508Thr Single submitter Finnish type amyloidosis ⚠
p.Ala522Thr Single submitter ⚠
p.Ala527Ser Single submitter ⚠
p.Ala542Thr Single submitter ⚠
p.Ala559Thr Single submitter ⚠
p.Ala559Val Single submitter
p.Ala567Asp Single submitter Inborn genetic diseases ⚠
p.Ala567Thr Single submitter ⚠
p.Ala599Val Single submitter ⚠
p.Ala620Thr Single submitter ⚠
p.Ala643Thr Single submitter ⚠
p.Ala672Asp Single submitter ⚠
p.Ala672Gly Single submitter Inborn genetic diseases ⚠
p.Ala672Thr Single submitter ⚠
p.Ala672Val Single submitter Finnish type amyloidosis ⚠
p.Ala725Asp Single submitter Inborn genetic diseases ⚠
p.Ala76Glu Single submitter ⚠
p.Ala77Thr Single submitter ⚠
p.Ala78Gly Single submitter Finnish type amyloidosis ⚠
p.Ala92Ser Single submitter Inborn genetic diseases ⚠
p.Arg137Gly Single submitter ⚠
p.Arg145Leu Single submitter Inborn genetic diseases ⚠
p.Arg148Cys Single submitter
p.Arg183Gln Single submitter Inborn genetic diseases ⚠
p.Arg183Pro Single submitter Inborn genetic diseases
p.Arg201Trp Single submitter ⚠
p.Arg204Trp Single submitter ⚠
p.Arg206Leu Single submitter ⚠
p.Arg244Cys Single submitter ⚠
p.Arg244His Single submitter ⚠
p.Arg244Leu Single submitter ⚠
p.Arg346Trp Single submitter Inborn genetic diseases ⚠
p.Arg368Trp Single submitter ⚠
p.Arg400Thr Single submitter Inborn genetic diseases ⚠
p.Arg430His Single submitter ⚠
p.Arg502Cys Single submitter ⚠
p.Arg502His Single submitter
p.Arg502Leu Single submitter ⚠
p.Arg502Ser Single submitter ⚠
p.Arg513Cys Single submitter ⚠
p.Arg518= Single submitter
p.Arg518Cys Single submitter
p.Arg53Gly Single submitter Finnish type amyloidosis ⚠
p.Arg572Gly Single submitter Inborn genetic diseases ⚠
p.Arg575Gly Single submitter ⚠
p.Arg575Leu Single submitter ⚠
p.Arg601Cys Single submitter ⚠
p.Arg605Gln Single submitter ⚠
p.Arg627Cys Single submitter ⚠
p.Arg678Gln Single submitter Finnish type amyloidosis ⚠
p.Arg689Gln Single submitter ⚠
p.Arg689Gly Single submitter Inborn genetic diseases ⚠
p.Arg690Trp Single submitter ⚠
p.Arg724Lys Single submitter ⚠
p.Arg91Gly Single submitter ⚠
p.Arg96His Single submitter Finnish type amyloidosis ⚠
p.Arg96Ser Single submitter ⚠
p.Asn268= Single submitter Finnish type amyloidosis
p.Asn33Lys Single submitter ⚠
p.Asn33Thr Single submitter Inborn genetic diseases ⚠
p.Asn365Asp Single submitter ⚠
p.Asn405Asp Single submitter Finnish type amyloidosis ⚠
p.Asn441Ile Single submitter Finnish type amyloidosis ⚠
p.Asn441Lys Single submitter Inborn genetic diseases ⚠
p.Asn441Ser Single submitter Inborn genetic diseases ⚠
p.Asn520His Single submitter ⚠
p.Asn538Lys Single submitter Inborn genetic diseases ⚠
p.Asn540Ser Single submitter Inborn genetic diseases ⚠
p.Asn56Ser Single submitter ⚠
p.Asn67Lys Single submitter ⚠
p.Asn686Ile Single submitter ⚠
p.Asn89Lys Single submitter Finnish type amyloidosis ⚠
p.Asn89Ser Single submitter ⚠