KLF1 — 223 ClinVar variants
All ClinVar germline KLF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →
13 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 15 Conflicting · 9 Benign · 5 Benign/Likely benign · 49 Likely benign · 121 Uncertain significance
Full KLF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 113
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 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
KLF1 p.Ala104Val
Conflicting
Single submitter
congenital dyserythropoietic anemia type 4
-
KLF1 p.Glu160Lys
Conflicting
Single submitter
congenital dyserythropoietic anemia type 4
-
KLF1 p.Glu253Lys
Conflicting
Single submitter
congenital dyserythropoietic anemia type 4
-
KLF1 p.Ile258Thr
Conflicting
Single submitter
Inborn genetic diseases
-
KLF1 p.Pro87Ala
Conflicting
Single submitter
congenital dyserythropoietic anemia type 4
-
KLF1 p.Ser270Trp
Conflicting
Single submitter
BLOOD GROUP--LUTHERAN INHIBITOR
Predictors lean, ClinVar uncertain 78
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
KLF1 p.Ala142Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KLF1 p.Ala165Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KLF1 p.Ala262Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KLF1 p.Arg137Cys
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 4
- KLF1 p.Arg328His Uncertain significance Multiple submitters
-
KLF1 p.Arg340His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KLF1 p.Arg360His
Uncertain significance
Multiple submitters
congenital dyserythropoietic anemia type 4
-
KLF1 p.Pro107Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KLF1 p.Ser264Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KLF1 p.Thr302Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KLF1 p.Trp318Cys Uncertain significance Multiple submitters
-
KLF1 p.Val53Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KLF1 p.Ala104Gly Uncertain significance Single submitter
- KLF1 p.Ala115Ser Uncertain significance Single submitter
- KLF1 p.Ala139Pro Uncertain significance Single submitter
- KLF1 p.Ala142Thr Uncertain significance Single submitter
- KLF1 p.Ala144Asp Uncertain significance Single submitter
-
KLF1 p.Ala144Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KLF1 p.Ala165Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KLF1 p.Ala175Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
KLF1 p.Ala226Thr
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 4
- KLF1 p.Ala252Val Uncertain significance Single submitter
- KLF1 p.Ala262Gly Uncertain significance Single submitter
- KLF1 p.Ala262Thr Uncertain significance Single submitter
- KLF1 p.Ala347Thr Uncertain significance Single submitter
- KLF1 p.Ala355Val Uncertain significance Single submitter
- KLF1 p.Ala90Val Uncertain significance Single submitter
- KLF1 p.Arg141Gln Uncertain significance Single submitter
-
KLF1 p.Arg220His
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.Arg331Gly Uncertain significance Single submitter
-
KLF1 p.Cys281Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.Gln105Glu Uncertain significance Single submitter
- KLF1 p.Gln217Arg Uncertain significance Single submitter
- KLF1 p.Gln342Glu Uncertain significance Single submitter
-
KLF1 p.Gln37Lys
Uncertain significance
Single submitter
KLF1-related disorder
-
KLF1 p.Glu260Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.Glu34Lys Uncertain significance Single submitter
- KLF1 p.Glu35Lys Uncertain significance Single submitter
- KLF1 p.Glu61Lys Uncertain significance Single submitter
-
KLF1 p.Gly118Asp
Uncertain significance
Single submitter
congenital dyserythropoietic anemia type 4
- KLF1 p.Gly121Glu Uncertain significance Single submitter
- KLF1 p.Gly128Ala Uncertain significance Single submitter
- KLF1 p.Gly150Asp Uncertain significance Single submitter
-
KLF1 p.Gly174Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.Gly179Cys Uncertain significance Single submitter
-
KLF1 p.Gly228Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.Gly245Ser Uncertain significance Single submitter
- KLF1 p.Gly285Ala Uncertain significance Single submitter
- KLF1 p.Gly285Asp Uncertain significance Single submitter
-
KLF1 p.Gly84Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.His279Gln Uncertain significance Single submitter
- KLF1 p.His353Tyr Uncertain significance Single submitter
- KLF1 p.His357Pro Uncertain significance Single submitter
- KLF1 p.His361Tyr Uncertain significance Single submitter
- KLF1 p.Ile258Val Uncertain significance Single submitter
- KLF1 p.Leu113Met Uncertain significance Single submitter
- KLF1 p.Leu218Val Uncertain significance Single submitter
- KLF1 p.Leu326Arg Uncertain significance Single submitter
- KLF1 p.Leu75Met Uncertain significance Single submitter
-
KLF1 p.Phe320Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
KLF1 p.Pro107Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
KLF1 p.Pro120Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.Pro190Arg Uncertain significance Single submitter
-
KLF1 p.Pro208Gln
Uncertain significance
Single submitter
KLF1-related disorder
- KLF1 p.Pro227Leu Uncertain significance Single submitter
- KLF1 p.Pro85Gln Uncertain significance Single submitter
- KLF1 p.Pro98Leu Uncertain significance Single submitter
- KLF1 p.Ser133Leu Uncertain significance Single submitter
- KLF1 p.Ser293Asn Uncertain significance Single submitter
- KLF1 p.Ser293Ile Uncertain significance Single submitter
-
KLF1 p.Thr185Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
KLF1 p.Thr243Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
KLF1 p.Thr251Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.Thr6Ser Uncertain significance Single submitter
- KLF1 p.Trp318Arg Uncertain significance Single submitter
- KLF1 p.Val244Leu Uncertain significance Single submitter
- KLF1 p.Val53Met Uncertain significance Single submitter
-
KLF1 p.Gly68Arg
Uncertain significance
No assertion criteria
KLF1-related disorder
Predictors split 29
The independent predictors disagree with each other — read with care.
- KLF1 p.Gln342His Uncertain significance Multiple submitters
- KLF1 p.Phe148Cys Uncertain significance Multiple submitters
-
KLF1 p.Phe182Leu
Benign/Likely benign
Multiple submitters
congenital dyserythropoietic anemia type 4
-
KLF1 p.Ser237Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KLF1 p.Trp73Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
KLF1 p.Tyr116Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- KLF1 p.Ala310Pro Uncertain significance Single submitter
-
KLF1 p.Arg268Leu
Conflicting
Single submitter
congenital dyserythropoietic anemia type 4
- KLF1 p.Arg268Pro Uncertain significance Single submitter
-
KLF1 p.Arg273Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.Gln24His Uncertain significance Single submitter
- KLF1 p.Glu111Lys Uncertain significance Single submitter
-
KLF1 p.Glu5Lys
Conflicting
Single submitter
BLOOD GROUP--LUTHERAN INHIBITOR
-
KLF1 p.Gly180Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KLF1 p.Gly186Arg
Uncertain significance
Single submitter
KLF1-related disorder
- KLF1 p.Gly18Asp Uncertain significance Single submitter
- KLF1 p.Gly202Arg Uncertain significance Single submitter
-
KLF1 p.Gly224Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
KLF1 p.His283Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.Leu78Phe Uncertain significance Single submitter
- KLF1 p.Lys265Glu Uncertain significance Single submitter
-
KLF1 p.Phe27Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.Pro21Leu Uncertain significance Single submitter
-
KLF1 p.Ser10Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
KLF1 p.Thr280Met
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.Thr327Ser Uncertain significance Single submitter
-
KLF1 p.Trp135Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- KLF1 p.Tyr170Asn Uncertain significance Single submitter
- KLF1 p.Tyr330Cys Uncertain significance Single submitter
All KLF1 variants
Pathogenic 13
- p.Ala298Pro Multiple submitters KLF1-related disorder
- p.Arg268Ter Single submitter
- p.Gly256fs Single submitter
- p.Tyr203Ter Single submitter
- p.Val136fs Single submitter
- p.Gln58Ter No assertion criteria anemia, congenital dyserythropoietic, type IVb
- p.His299Tyr No assertion criteria BLOOD GROUP--LUTHERAN INHIBITOR
- p.His357Gln No assertion criteria BLOOD GROUP--LUTHERAN INHIBITOR
- p.Lys292Ter No assertion criteria BLOOD GROUP--LUTHERAN INHIBITOR
- p.Pro190fs No assertion criteria BLOOD GROUP--LUTHERAN INHIBITOR
- p.Pro338Ser No assertion criteria congenital dyserythropoietic anemia type 4
- p.Pro338Thr No assertion criteria anemia, congenital dyserythropoietic, type IVb
- p.Tyr197Ter No assertion criteria BLOOD GROUP--LUTHERAN INHIBITOR
Pathogenic/Likely pathogenic 2
- p.Arg319fs Multiple submitters KLF1-related disorder
- p.Thr302fs Multiple submitters anemia, congenital dyserythropoietic, type IVb
Likely pathogenic 9
- c.87+1G>A Single submitter
- c.913+1G>A Single submitter congenital dyserythropoietic anemia type 4
- p.Ala124fs Single submitter anemia, congenital dyserythropoietic, type IVb
- p.Cys286Ter Single submitter congenital dyserythropoietic anemia type 4
- p.Cys94Ter Single submitter KLF1-related disorder
- p.Trp30Ter Single submitter
- p.Cys341Tyr No assertion criteria
- p.His299Asp No assertion criteria
- p.Thr334Arg No assertion criteria
Conflicting classifications of pathogenicity 15
- c.88-4G>A Single submitter
- p.Ala104Val Single submitter congenital dyserythropoietic anemia type 4 ⚠
- p.Ala230= Single submitter congenital dyserythropoietic anemia type 4
- p.Arg268Leu Single submitter congenital dyserythropoietic anemia type 4 ⚠
- p.Gln217Ter Single submitter anemia, congenital dyserythropoietic, type IVb
- p.Glu160Lys Single submitter congenital dyserythropoietic anemia type 4 ⚠
- p.Glu253Lys Single submitter congenital dyserythropoietic anemia type 4 ⚠
- p.Glu5Lys Single submitter BLOOD GROUP--LUTHERAN INHIBITOR ⚠
- p.Gly176fs Single submitter BLOOD GROUP--LUTHERAN INHIBITOR
- p.Gly202= Single submitter congenital dyserythropoietic anemia type 4
- p.Ile258Thr Single submitter Inborn genetic diseases ⚠
- p.Leu326= Single submitter
- p.Lys288= Single submitter
- p.Pro87Ala Single submitter congenital dyserythropoietic anemia type 4 ⚠
- p.Ser270Trp Single submitter BLOOD GROUP--LUTHERAN INHIBITOR ⚠
Benign 9
- c.*277C>T Multiple submitters congenital dyserythropoietic anemia type 4
- c.*296G>A Multiple submitters congenital dyserythropoietic anemia type 4
- p.Ser102Pro Multiple submitters congenital dyserythropoietic anemia type 4
- c.913+18dup Single submitter
- c.*185G>A Single submitter congenital dyserythropoietic anemia type 4
- c.*22T>A Single submitter congenital dyserythropoietic anemia type 4
- c.*254C>T Single submitter congenital dyserythropoietic anemia type 4
- c.*291A>G Single submitter congenital dyserythropoietic anemia type 4
- c.*454C>G Single submitter congenital dyserythropoietic anemia type 4
Benign/Likely benign 5
- p.Ala298= Multiple submitters
- p.Leu96= Multiple submitters congenital dyserythropoietic anemia type 4
- p.Phe182Leu Multiple submitters congenital dyserythropoietic anemia type 4 ⚠
- p.Pro109Ser Multiple submitters congenital dyserythropoietic anemia type 4
- p.Pro210Arg Multiple submitters congenital dyserythropoietic anemia type 4
Likely benign 49
- p.Ala163= Multiple submitters
- p.Ala7Thr Multiple submitters
- p.Arg268= Multiple submitters
- p.Gly84= Multiple submitters
- p.Pro227= Multiple submitters
- p.Ser178= Multiple submitters
- p.Ser270= Multiple submitters
- c.88-16C>T Single submitter
- c.88-5C>T Single submitter
- c.88-6C>T Single submitter
- c.88-7C>T Single submitter
- c.913+13G>A Single submitter
- c.914-12C>T Single submitter
- c.914-7C>T Single submitter
- c.-1C>T Single submitter
- c.-21del Single submitter
- p.Ala147= Single submitter
- p.Ala165= Single submitter
- p.Ala16Thr Single submitter Inborn genetic diseases
- p.Ala175= Single submitter
- p.Ala226= Single submitter
- p.Ala262= Single submitter
- p.Ala90= Single submitter
- p.Arg328= Single submitter
- p.Asp57= Single submitter
- p.Gln342Leu Single submitter
- p.Glu111= Single submitter
- p.Glu48= Single submitter
- p.Gly134= Single submitter
- p.Gly242= Single submitter
- p.Gly250= Single submitter
- p.Gly267= Single submitter
- p.Gly315= Single submitter
- p.His353= Single submitter
- p.Leu153= Single submitter
- p.Leu300= Single submitter
- p.Lys359= Single submitter
- p.Pro151= Single submitter
- p.Pro157= Single submitter
- p.Pro168= Single submitter
- p.Pro204= Single submitter
- p.Pro59= Single submitter
- p.Ser193= Single submitter
- p.Ser293= Single submitter
- p.Thr15= Single submitter
- p.Thr302= Single submitter
- p.Thr312= Single submitter
- c.914-12_914-9del No assertion criteria KLF1-related disorder
- p.Gly128= No assertion criteria KLF1-related disorder
Uncertain significance 121
- c.*263C>T Multiple submitters congenital dyserythropoietic anemia type 4
- p.Ala142Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala165Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala262Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg137Cys Multiple submitters congenital dyserythropoietic anemia type 4 ⚠
- p.Arg328His Multiple submitters ⚠
- p.Arg340His Multiple submitters Inborn genetic diseases ⚠
- p.Arg360His Multiple submitters congenital dyserythropoietic anemia type 4 ⚠
- p.Gln342His Multiple submitters ⚠
- p.Phe148Cys Multiple submitters ⚠
- p.Pro107Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser237Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser264Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr302Lys Multiple submitters Inborn genetic diseases ⚠
- p.Trp318Cys Multiple submitters ⚠
- p.Trp73Arg Multiple submitters Inborn genetic diseases ⚠
- p.Tyr116Asp Multiple submitters Inborn genetic diseases ⚠
- p.Val53Leu Multiple submitters Inborn genetic diseases ⚠
- c.88-12T>G Single submitter
- c.-123C>T Single submitter
- c.-146C>T Single submitter
- c.-149dup Single submitter
- c.*2C>T Single submitter congenital dyserythropoietic anemia type 4
- c.*311A>G Single submitter congenital dyserythropoietic anemia type 4
- c.*312G>C Single submitter congenital dyserythropoietic anemia type 4
- c.*367C>G Single submitter congenital dyserythropoietic anemia type 4
- p.Ala104Gly Single submitter ⚠
- p.Ala115Ser Single submitter ⚠
- p.Ala139Pro Single submitter ⚠
- p.Ala142Thr Single submitter ⚠
- p.Ala144Asp Single submitter ⚠
- p.Ala144Thr Single submitter Inborn genetic diseases ⚠
- p.Ala165Thr Single submitter Inborn genetic diseases ⚠
- p.Ala175Thr Single submitter Inborn genetic diseases ⚠
- p.Ala226Thr Single submitter congenital dyserythropoietic anemia type 4 ⚠
- p.Ala252Val Single submitter ⚠
- p.Ala262Gly Single submitter ⚠
- p.Ala262Thr Single submitter ⚠
- p.Ala310Pro Single submitter ⚠
- p.Ala347Thr Single submitter ⚠
- p.Ala355Val Single submitter ⚠
- p.Ala90Val Single submitter ⚠
- p.Arg141Gln Single submitter ⚠
- p.Arg220His Single submitter Inborn genetic diseases ⚠
- p.Arg268Pro Single submitter ⚠
- p.Arg273Cys Single submitter Inborn genetic diseases ⚠
- p.Arg331Gly Single submitter ⚠
- p.Cys281Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys316Ter Single submitter
- p.Gln105Glu Single submitter ⚠
- p.Gln217Arg Single submitter ⚠
- p.Gln24His Single submitter ⚠
- p.Gln342Glu Single submitter ⚠
- p.Gln342Ter Single submitter
- p.Gln37Lys Single submitter KLF1-related disorder ⚠
- p.Glu111Lys Single submitter ⚠
- p.Glu260Ala Single submitter Inborn genetic diseases ⚠
- p.Glu34Lys Single submitter ⚠
- p.Glu35Lys Single submitter ⚠
- p.Glu61Lys Single submitter ⚠
- p.Gly118Asp Single submitter congenital dyserythropoietic anemia type 4 ⚠
- p.Gly121Glu Single submitter ⚠
- p.Gly128Ala Single submitter ⚠
- p.Gly150Asp Single submitter ⚠
- p.Gly174Ser Single submitter Inborn genetic diseases ⚠
- p.Gly179Cys Single submitter ⚠
- p.Gly180Arg Single submitter Inborn genetic diseases ⚠
- p.Gly186Arg Single submitter KLF1-related disorder ⚠
- p.Gly18Asp Single submitter ⚠
- p.Gly202Arg Single submitter ⚠
- p.Gly224Arg Single submitter Inborn genetic diseases ⚠
- p.Gly228Arg Single submitter Inborn genetic diseases ⚠
- p.Gly245Ser Single submitter ⚠
- p.Gly285Ala Single submitter ⚠
- p.Gly285Asp Single submitter ⚠
- p.Gly84Asp Single submitter Inborn genetic diseases ⚠
- p.His279Gln Single submitter ⚠
- p.His283Asn Single submitter Inborn genetic diseases ⚠
- p.His353Tyr Single submitter ⚠
- p.His357Pro Single submitter ⚠
- p.His361Tyr Single submitter ⚠
- p.Ile258Val Single submitter ⚠
- p.Leu113Met Single submitter ⚠
- p.Leu218Val Single submitter ⚠
- p.Leu326Arg Single submitter ⚠
- p.Leu75Met Single submitter ⚠
- p.Leu78Phe Single submitter ⚠
- p.Leu79del Single submitter
- p.Lys265Glu Single submitter ⚠
- p.Met1fs Single submitter
- p.Phe27Cys Single submitter Inborn genetic diseases ⚠
- p.Phe320Leu Single submitter Inborn genetic diseases ⚠
- p.Pro107= Single submitter
- p.Pro107Ser Single submitter Inborn genetic diseases ⚠
- p.Pro120Leu Single submitter Inborn genetic diseases ⚠
- p.Pro159Ser Single submitter
- p.Pro190Arg Single submitter ⚠
- p.Pro208Gln Single submitter KLF1-related disorder ⚠
- p.Pro21Leu Single submitter ⚠
- p.Pro227Leu Single submitter ⚠
- p.Pro284Leu Single submitter
- p.Pro85= Single submitter congenital dyserythropoietic anemia type 4
- p.Pro85Gln Single submitter ⚠
- p.Pro98Leu Single submitter ⚠
- p.Ser10Phe Single submitter Inborn genetic diseases ⚠
- p.Ser133Leu Single submitter ⚠
- p.Ser293Asn Single submitter ⚠
- p.Ser293Ile Single submitter ⚠
- p.Thr185Pro Single submitter Inborn genetic diseases ⚠
- p.Thr243Met Single submitter Inborn genetic diseases ⚠
- p.Thr251Ile Single submitter Inborn genetic diseases ⚠
- p.Thr280Met Single submitter Inborn genetic diseases ⚠
- p.Thr327Ser Single submitter ⚠
- p.Thr6Ser Single submitter ⚠
- p.Trp135Cys Single submitter Inborn genetic diseases ⚠
- p.Trp318Arg Single submitter ⚠
- p.Tyr170Asn Single submitter ⚠
- p.Tyr330Cys Single submitter ⚠
- p.Val244Leu Single submitter ⚠
- p.Val53Met Single submitter ⚠
- p.Gly68Arg No assertion criteria KLF1-related disorder ⚠