FTL — 220 ClinVar variants
All ClinVar germline FTL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
17 Pathogenic · 9 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 11 Conflicting · 3 Benign · 3 Benign/Likely benign · 34 Likely benign · 136 Uncertain significance
Full FTL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
FTL p.Thr30Ile
Pathogenic/Likely pathogenic
Multiple submitters
Iron metabolism disorders
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
FTL p.Arg121His
Conflicting
Single submitter
Inborn genetic diseases
-
FTL p.Glu57Lys
Conflicting
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Phe52Cys
Conflicting
Single submitter
Inborn genetic diseases
- FTL p.Tyr31Cys Conflicting Single submitter
Predictors lean, ClinVar uncertain 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FTL p.Arg121Cys Uncertain significance Multiple submitters
-
FTL p.Glu104Gly
Uncertain significance
Multiple submitters
neuroferritinopathy
-
FTL p.Glu164Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTL p.Glu64Lys
Uncertain significance
Multiple submitters
neuroferritinopathy
-
FTL p.Gly156Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
FTL p.Ala27Asp
Uncertain significance
Single submitter
neuroferritinopathy
- FTL p.Ala44Pro Uncertain significance Single submitter
-
FTL p.Ala56Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTL p.Ala77Thr
Uncertain significance
Single submitter
neuroferritinopathy
-
FTL p.Ala86Pro
Uncertain significance
Single submitter
neuroferritinopathy
-
FTL p.Arg73Leu
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
- FTL p.Asn71Lys Uncertain significance Single submitter
-
FTL p.Asp41Asn
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Asp88Gly
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Cys127Arg
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Glu131Lys
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Glu64Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTL p.Glu87Asp
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Gly163Asp
Uncertain significance
Single submitter
neuroferritinopathy
-
FTL p.Gly47Arg
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Gly47Cys
Uncertain significance
Single submitter
neuroferritinopathy
-
FTL p.Gly62Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTL p.Leu107Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- FTL p.Leu111His Uncertain significance Single submitter
- FTL p.Leu112Ser Uncertain significance Single submitter
-
FTL p.Leu34Met
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Leu78Phe
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
- FTL p.Leu78Val Uncertain significance Single submitter
-
FTL p.Lys144Asn
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Lys144Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- FTL p.Lys83Arg Uncertain significance Single submitter
-
FTL p.Lys83Glu
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Met101Thr
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Met97Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- FTL p.Phe134Leu Uncertain significance Single submitter
-
FTL p.Phe38Ser
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Pro158Leu
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Pro85Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTL p.Pro85Ser
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Tyr24Phe
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
- FTL p.Tyr31Ser Uncertain significance Single submitter
-
FTL p.Val17Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTL p.Glu61Asp
Uncertain significance
No assertion criteria
essential tremor
Predictors split 15
The independent predictors disagree with each other — read with care.
-
FTL p.His174Tyr
Likely benign
Multiple submitters
neuroferritinopathy
- FTL p.Leu103Val Uncertain significance Multiple submitters
-
FTL p.Met69Ile
Uncertain significance
Multiple submitters
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Ala99Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTL p.Arg60Cys
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
- FTL p.Arg65Cys Uncertain significance Single submitter
-
FTL p.Arg65His
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Asn18Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTL p.Asp42Asn
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Gln4His
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Glu138Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
FTL p.Glu61Lys
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
-
FTL p.Gly91Cys
Uncertain significance
Single submitter
hereditary hyperferritinemia with congenital cataracts
- FTL p.Ile82Met Uncertain significance Single submitter
-
FTL p.Lys84Arg
Uncertain significance
Single submitter
neuroferritinopathy
All FTL variants
Pathogenic 17
- c.-160A>G Multiple submitters FTL-related disorders
- c.-167C>T Multiple submitters hereditary hyperferritinemia with congenital cataracts
- c.-168G>T Multiple submitters FTL-related disorders
- p.Glu104Ter Multiple submitters Inborn genetic diseases
- c.-151A>G Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-161C>G Single submitter FTL-related disorders
- c.-164C>G Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Arg154fs Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Glu168fs Single submitter neuroferritinopathy
- p.Glu58Ter Single submitter
- p.Gly118fs Single submitter neuroferritinopathy
- c.-159G>C No assertion criteria hereditary hyperferritinemia with congenital cataracts
- c.-175_-170del No assertion criteria hereditary hyperferritinemia with congenital cataracts
- c.-189_-161del No assertion criteria hereditary hyperferritinemia with congenital cataracts
- p.Ala96Thr No assertion criteria neuroferritinopathy
- p.His153fs No assertion criteria neuroferritinopathy
- p.Phe167fs No assertion criteria neuroferritinopathy
Pathogenic/Likely pathogenic 9
- c.-149G>C Multiple submitters FTL-related disorders
- c.-150C>A Multiple submitters neuroferritinopathy
- c.-157G>A Multiple submitters hereditary hyperferritinemia with congenital cataracts
- c.-161C>T Multiple submitters FTL-related disorders
- c.-164C>A Multiple submitters neuroferritinopathy
- c.-168G>A Multiple submitters hereditary hyperferritinemia with congenital cataracts
- c.-168G>C Multiple submitters FTL-related disorders
- p.Glu164fs Multiple submitters neuroferritinopathy
- p.Thr30Ile Multiple submitters Iron metabolism disorders ⚠
Likely pathogenic 7
- c.102+1G>A Single submitter
- c.103-1G>A Single submitter Iron metabolism disorders
- c.-153G>A Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-166T>C Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Leu112fs Single submitter L-ferritin deficiency
- p.Leu162fs Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Pro124fs Single submitter
Conflicting classifications of pathogenicity 11
- c.103-14A>C Single submitter neuroferritinopathy
- c.375+4C>T Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-121C>T Single submitter neuroferritinopathy
- c.-164C>T Single submitter FTL-related disorders
- c.*8C>T Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Arg121His Single submitter Inborn genetic diseases ⚠
- p.Glu57Lys Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Met1Val Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Phe52Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr31= Single submitter Inborn genetic diseases
- p.Tyr31Cys Single submitter ⚠
Benign 3
Benign/Likely benign 3
- c.103-14A>G Multiple submitters hereditary hyperferritinemia with congenital cataracts
- c.250-6A>G Multiple submitters neuroferritinopathy
- p.His174= Multiple submitters hereditary hyperferritinemia with congenital cataracts
Likely benign 34
- c.249+4A>G Multiple submitters hereditary hyperferritinemia with congenital cataracts
- c.250-12C>T Multiple submitters hereditary hyperferritinemia with congenital cataracts
- c.376-15C>T Multiple submitters hereditary hyperferritinemia with congenital cataracts
- p.Ala16= Multiple submitters hereditary hyperferritinemia with congenital cataracts
- p.His174Tyr Multiple submitters neuroferritinopathy ⚠
- p.Leu107= Multiple submitters hereditary hyperferritinemia with congenital cataracts
- p.Leu155= Multiple submitters hereditary hyperferritinemia with congenital cataracts
- p.Thr122= Multiple submitters hereditary hyperferritinemia with congenital cataracts
- c.102+14A>G Single submitter hereditary hyperferritinemia with congenital cataracts
- c.102+20C>T Single submitter hereditary hyperferritinemia with congenital cataracts
- c.103-18C>T Single submitter
- c.103-4G>T Single submitter neuroferritinopathy
- c.249+8G>C Single submitter neuroferritinopathy
- c.249+9T>G Single submitter hereditary hyperferritinemia with congenital cataracts
- c.250-126G>A Single submitter
- c.250-7T>C Single submitter hereditary hyperferritinemia with congenital cataracts
- c.375+15C>A Single submitter neuroferritinopathy
- c.375+15C>T Single submitter hereditary hyperferritinemia with congenital cataracts
- c.375+8C>T Single submitter neuroferritinopathy
- c.376-11T>C Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-9C>T Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Ala77= Single submitter
- p.Ala96= Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Asp95= Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Glu14= Single submitter neuroferritinopathy
- p.Leu112= Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Leu130= Single submitter
- p.Leu67= Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Phe167= Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Phe52= Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Pro158= Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Ser10= Single submitter
- p.Thr11= Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Val139= Single submitter neuroferritinopathy
Uncertain significance 136
- c.-134A>T Multiple submitters FTL-related disorder
- c.-173C>G Multiple submitters hereditary hyperferritinemia with congenital cataracts
- c.-182C>T Multiple submitters neuroferritinopathy
- c.-186C>A Multiple submitters hereditary hyperferritinemia with congenital cataracts
- c.-46C>A Multiple submitters neuroferritinopathy
- c.-92T>C Multiple submitters hereditary hyperferritinemia with congenital cataracts
- p.Arg121Cys Multiple submitters ⚠
- p.Glu104Gly Multiple submitters neuroferritinopathy ⚠
- p.Glu164Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu64Lys Multiple submitters neuroferritinopathy ⚠
- p.Gly146Ser Multiple submitters hereditary hyperferritinemia with congenital cataracts
- p.Gly156Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu103Val Multiple submitters ⚠
- p.Lys144Met Multiple submitters Inborn genetic diseases
- p.Met69Ile Multiple submitters hereditary hyperferritinemia with congenital cataracts ⚠
- c.249+3A>G Single submitter hereditary hyperferritinemia with congenital cataracts
- c.249+6T>C Single submitter hereditary hyperferritinemia with congenital cataracts
- c.249+6T>G Single submitter
- c.358_375+6del Single submitter
- c.375+5G>A Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-105A>G Single submitter
- c.-10C>T Single submitter neuroferritinopathy
- c.-111C>T Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-120T>C Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-125C>A Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-126C>A Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-136_-115delinsA Single submitter
- c.-139C>T Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-143G>A Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-144A>G Single submitter
- c.-144A>T Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-148G>C Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-153G>C Single submitter
- c.-153G>T Single submitter neuroferritinopathy
- c.-155T>C Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-161_-160del Single submitter
- c.-167_-153del Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-170T>C Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-176T>C Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-177C>T Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-179G>A Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-17CTT[1] Single submitter
- c.-181G>A Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-184C>G Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-184C>T Single submitter
- c.-186C>T Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-189G>C Single submitter
- c.-189G>T Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-190C>T Single submitter neuroferritinopathy
- c.-193C>G Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-196G>C Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-24T>C Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-51dup Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-56G>T Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-60T>C Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-86C>A Single submitter hereditary hyperferritinemia with congenital cataracts
- c.-86C>T Single submitter neuroferritinopathy
- c.-95C>A Single submitter neuroferritinopathy
- c.*131A>T Single submitter neuroferritinopathy
- c.*76G>A Single submitter neuroferritinopathy
- p.Ala100Val Single submitter
- p.Ala16Asp Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Ala16Val Single submitter
- p.Ala27Asp Single submitter neuroferritinopathy ⚠
- p.Ala44Pro Single submitter ⚠
- p.Ala56Pro Single submitter Inborn genetic diseases ⚠
- p.Ala77Thr Single submitter neuroferritinopathy ⚠
- p.Ala86Pro Single submitter neuroferritinopathy ⚠
- p.Ala99Gly Single submitter Inborn genetic diseases ⚠
- p.Arg60Cys Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Arg65Cys Single submitter ⚠
- p.Arg65His Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Arg6His Single submitter neuroferritinopathy
- p.Arg73Leu Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Asn108= Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Asn18Ser Single submitter Inborn genetic diseases ⚠
- p.Asn71Lys Single submitter ⚠
- p.Asp175Tyr Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Asp41Asn Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Asp42Asn Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Asp81Gly Single submitter neuroferritinopathy
- p.Asp88Gly Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Cys127Arg Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Gln4His Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Glu131Lys Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Glu138Gly Single submitter Inborn genetic diseases ⚠
- p.Glu168Gly Single submitter
- p.Glu168Ter Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Glu58del Single submitter
- p.Glu61Lys Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Glu64Gln Single submitter Inborn genetic diseases ⚠
- p.Glu87Asp Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Gly163Asp Single submitter neuroferritinopathy ⚠
- p.Gly47Arg Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Gly47Asp Single submitter
- p.Gly47Cys Single submitter neuroferritinopathy ⚠
- p.Gly62Ala Single submitter Inborn genetic diseases ⚠
- p.Gly91Asp Single submitter Inborn genetic diseases
- p.Gly91Cys Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Gly91Val Single submitter Inborn genetic diseases
- p.His125= Single submitter hereditary hyperferritinemia with congenital cataracts
- p.His174fs Single submitter neuroferritinopathy
- p.Ile82Met Single submitter ⚠
- p.Leu107Arg Single submitter Inborn genetic diseases ⚠
- p.Leu111His Single submitter ⚠
- p.Leu112Ser Single submitter ⚠
- p.Leu126Val Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Leu130fs Single submitter
- p.Leu172fs Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Leu32= Single submitter
- p.Leu34= Single submitter neuroferritinopathy
- p.Leu34Met Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Leu78Phe Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Leu78Val Single submitter ⚠
- p.Lys105fs Single submitter
- p.Lys144Asn Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Lys144Gln Single submitter Inborn genetic diseases ⚠
- p.Lys59fs Single submitter
- p.Lys83Arg Single submitter ⚠
- p.Lys83Glu Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Lys84Arg Single submitter neuroferritinopathy ⚠
- p.Met101Thr Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Met1Arg Single submitter hereditary hyperferritinemia with congenital cataracts
- p.Met97Thr Single submitter Inborn genetic diseases ⚠
- p.Phe134Leu Single submitter ⚠
- p.Phe38Ser Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Pro158Leu Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Pro85Leu Single submitter Inborn genetic diseases ⚠
- p.Pro85Ser Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Tyr24Phe Single submitter hereditary hyperferritinemia with congenital cataracts ⚠
- p.Tyr31Ser Single submitter ⚠
- p.Tyr63Ter Single submitter neuroferritinopathy
- p.Val13Gly Single submitter Inborn genetic diseases
- p.Val17Ile Single submitter Inborn genetic diseases ⚠
- p.Val48Gly Single submitter
- p.Glu61Asp No assertion criteria essential tremor ⚠