TRNT1 — 622 ClinVar variants
All ClinVar germline TRNT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 255 flagged for review →
60 Pathogenic · 11 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 18 Conflicting · 37 Benign · 8 Benign/Likely benign · 188 Likely benign · 293 Uncertain significance
Full TRNT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 255
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TRNT1 p.Ala148Val
Conflicting
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Arg203Lys
Conflicting
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp128Gly
Conflicting
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp163Val
Conflicting
Single submitter
TRNT1-related disorder
-
TRNT1 p.His215Arg
Conflicting
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Lys328Glu
Conflicting
Single submitter
Inborn genetic diseases
-
TRNT1 p.Pro270Arg
Conflicting
Single submitter
retinitis pigmentosa and erythrocytic microcytosis
-
TRNT1 p.Pro356Ser
Conflicting
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Thr87Ala
Conflicting
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Predictors lean, ClinVar uncertain 199
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 199
-
TRNT1 p.Ala273Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Ala316Thr
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ala358Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Arg150Cys
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Arg150His
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
TRNT1 p.Arg361His
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp132Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Asp132Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Gln145His
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gln189His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Gln189Lys
Uncertain significance
Multiple submitters
retinitis pigmentosa and erythrocytic microcytosis
-
TRNT1 p.Gln25Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Glu276Lys
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Glu36Val
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Glu423Asp
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Glu426Asp
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Glu55Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Gly109Arg
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gly213Ala
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.His57Gln
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.His9Gln
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile155Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Ile208Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Ile233Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Ile255Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Ile431Val
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu22Arg
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu296Val
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu309Val
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu40Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Leu70Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Lys211Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Lys228Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Lys283Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Lys331Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Lys331Glu
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Met30Val
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Phe167Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Phe183Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Phe300Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Pro217Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Thr360Ile
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Thr434Ser
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Tyr259Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
TRNT1 p.Val263Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Ala148Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ala224Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ala227Ser
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ala231Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ala264Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ala271Thr
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ala62Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ala84Pro
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Arg126Trp
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Arg15Cys
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Arg182Lys
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- TRNT1 p.Arg197Lys Uncertain significance Single submitter
- TRNT1 p.Arg237Gly Uncertain significance Single submitter
-
TRNT1 p.Arg237Lys
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- TRNT1 p.Arg237Ser Uncertain significance Single submitter
-
TRNT1 p.Arg330Lys
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Arg330Thr
Uncertain significance
Single submitter
inherited retinal dystrophy
-
TRNT1 p.Arg361Cys
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Arg361Leu
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Arg412Gln
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Arg60Ile
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Arg60Thr
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asn156Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Asn71Ser
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp128Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Asp168His
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp168Tyr
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp194Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp214Asn
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp260Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp286Asn
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp286Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp332His
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp338Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp341Asn
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp352His
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Cys363Ser
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Cys373Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Gln25Arg
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gln25His
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gln25Lys
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gln303Glu
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gln303His
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gln33Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Gln379Glu
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gln380His
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Gln38Glu
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gln38His
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gln409Glu
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gln414Glu
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gln88Glu
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gln94His
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Glu121Lys
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Glu137Ala
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Glu193Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Glu318Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Glu319Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Glu36Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- TRNT1 p.Glu377Gln Uncertain significance Single submitter
-
TRNT1 p.Glu413Lys
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Glu426Gln
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Glu58Lys
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gly105Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Gly133Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gly172Ser
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gly185Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Gly213Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gly229Asp
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- TRNT1 p.Gly248Asp Uncertain significance Single submitter
-
TRNT1 p.Gly405Arg
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gly72Ala
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.His108Asp
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.His116Gln
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.His186Leu
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.His186Tyr
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.His256Asn
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile208Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Ile223Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile255Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Ile258Met
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile258Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile315Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile334Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Ile351Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile393Asn
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile393Phe
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile61Arg
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile98Ser
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu13Pro
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu196Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu20Pro
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu22Phe
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu242Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu246Phe
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu27Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu313Phe
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu324Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu408Ser
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu428Pro
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu51Ile
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu70Phe
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Lys107Arg
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Lys177Arg
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Lys211Arg
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Lys283Glu
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Predictors split 47
The independent predictors disagree with each other — read with care.
-
TRNT1 p.Glu36Lys
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gly44Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TRNT1 p.Ile78Thr
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu275Ser
Uncertain significance
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Lys416Glu
Pathogenic/Likely pathogenic
Multiple submitters
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Met100Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- TRNT1 p.Ala136Gly Uncertain significance Single submitter
-
TRNT1 p.Ala358Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ala65Pro
Conflicting
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Arg182Thr
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Arg394Ser
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asn272Ile
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp216Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp425Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Asp425Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- TRNT1 p.Gln88Arg Uncertain significance Single submitter
-
TRNT1 p.Gln88His
Uncertain significance
Single submitter
retinitis pigmentosa and erythrocytic microcytosis
-
TRNT1 p.Glu364Asp
Likely pathogenic
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Glu371Gly
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Glu377Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gly248Ser
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Gly323Asp
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.His250Arg
Uncertain significance
Single submitter
inherited retinal dystrophy
-
TRNT1 p.His57Arg
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile223Met
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile267Thr
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile351Lys
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile431Thr
Conflicting
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ile78Met
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu257Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Leu261Ile
Conflicting
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu295Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu299Ile
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Leu322Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Lys54Glu
Uncertain significance
Single submitter
inherited retinal dystrophy
-
TRNT1 p.Phe167Leu
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Phe278Cys
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Phe349Val
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Pro292Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Ser234Ala
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ser382Pro
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Ser382Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Ser418Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
TRNT1 p.Ser429Ile
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Thr131Ala
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Thr165Ala
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
-
TRNT1 p.Val138Ile
Uncertain significance
Single submitter
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
All TRNT1 variants
Pathogenic 60
- p.Arg190fs Multiple submitters Inborn genetic diseases
- p.Arg190Ile Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile223Thr Multiple submitters TRNT1-related disorder
- p.Ser289fs Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1056+1G>A Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1056+1G>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.608+1G>A Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.608+1G>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.609-26T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ala148fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Arg182fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asn171fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asn178fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asn284fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp143fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp168Ter Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp260fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp332fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp338fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp348fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp352Ter Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gln145Ter Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gln25Ter Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gln410Ter Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gln414_Trp415insTer Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gln414fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gln88fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Glu43Ter Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Glu58_Leu59insTer Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gly172fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gly397fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile208fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile223fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile238fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile245fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile393fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu13fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu230fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu2fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu324_Phe325insTer Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu324Ter Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu48fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu51fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Lys180Ter Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Lys283Ter Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Met158fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Phe80fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro270fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro384fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ser339_Ser340insTer Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ser339delinsArgTer Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ser389fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ser418fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Thr112fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Thr337_Asp338insTer Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Val327fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asn171Ter No assertion criteria inherited retinal dystrophy
- p.Leu166Ser No assertion criteria congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Thr154Ile No assertion criteria congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Trp381Ter No assertion criteria congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Pathogenic/Likely pathogenic 11
- c.1055_1056+5del Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Arg412Ter Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Glu277Ter Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Glu403fs Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.His108fs Multiple submitters TRNT1-related disorder
- p.Leu125fs Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Lys416Glu Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Phe167fs Multiple submitters retinitis pigmentosa and erythrocytic microcytosis
- p.Thr337fs Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Val181fs Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Val73_Lys74insArgAspLeuLeuAsnTyrLysPheIleLysTrpIleTyrTer Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Likely pathogenic 7
- c.342+1G>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.802+2T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.803-2A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asn56fs Single submitter TRNT1-related disorder
- p.Gln33Ter Single submitter retinitis pigmentosa and erythrocytic microcytosis
- p.Glu364Asp Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Pro75fs Single submitter TRNT1-related disorder
Conflicting classifications of pathogenicity 18
- c.1056+4_1056+7dup Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1057-7C>G Single submitter TRNT1-related disorder
- c.149-5C>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.802+6A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ala148Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ala65Pro Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg203Lys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg99Trp Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp128Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp163Val Single submitter TRNT1-related disorder ⚠
- p.Glu43del Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.His215Arg Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile431Thr Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu261Ile Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys328Glu Single submitter Inborn genetic diseases ⚠
- p.Pro270Arg Single submitter retinitis pigmentosa and erythrocytic microcytosis ⚠
- p.Pro356Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Thr87Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
Benign 37
- c.1056+45G>A Multiple submitters
- c.148+150C>T Multiple submitters
- c.148+151A>G Multiple submitters
- c.148+209G>A Multiple submitters
- c.148+253G>A Multiple submitters
- c.148+28T>C Multiple submitters
- c.148+38A>G Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.148+94T>C Multiple submitters
- c.342+125A>T Multiple submitters
- c.481+153A>G Multiple submitters
- c.481+168G>C Multiple submitters
- c.609-98A>G Multiple submitters
- c.802+139G>T Multiple submitters
- c.802+55A>G Multiple submitters
- c.803-74G>A Multiple submitters
- c.803-75T>C Multiple submitters
- c.-28+98C>A Multiple submitters
- c.*101T>C Multiple submitters
- c.148+630C>A Single submitter
- c.148+843_148+844insTGACTCC Single submitter
- c.342+234A>T Single submitter
- c.342+263A>G Single submitter
- c.343-207A>T Single submitter
- c.343-215_343-214insA Single submitter
- c.481+19dup Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.482-24T>A Single submitter
- c.608+178T>C Single submitter
- c.608+237C>T Single submitter
- c.608+325T>G Single submitter
- c.803-220C>G Single submitter
- c.803-233A>C Single submitter
- c.-27-237_-27-235dup Single submitter
- c.-27-289G>C Single submitter
- c.-27-67C>G Single submitter
- p.Gly248= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro23= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro23Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Benign/Likely benign 8
- c.1056+11A>G Multiple submitters retinitis pigmentosa and erythrocytic microcytosis
- p.Asp77= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile111Val Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile315= Multiple submitters inherited retinal dystrophy
- p.Leu45= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro23Ala Multiple submitters inherited retinal dystrophy
- p.Pro270_Ala271insLysLeu Multiple submitters inherited retinal dystrophy
- p.Pro35= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Likely benign 188
- c.1057-5C>T Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.148+133G>A Multiple submitters
- c.148+14A>G Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.148+17C>T Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.342+11A>G Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.343-14G>A Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.482-16C>G Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.482-3dup Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.802+16A>G Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.803-6C>T Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.-27-68C>T Multiple submitters
- p.Ala148= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Arg15= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asn171= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp260= Multiple submitters inherited retinal dystrophy
- p.Gln189= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.His108= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.His250= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.His9= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile208= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu20= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Phe288Ile Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro292= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ser339= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ser95= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Tyr205= Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1056+12C>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1056+13T>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1056+14A>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1056+18T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1056+6TA[2] Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1056+86G>T Single submitter
- c.1057-15G>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1057-16T>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1057-17T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1057-19G>C Single submitter
- c.1057-4G>A Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1057-7C>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1057-8A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.148+12G>A Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.148+15T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.148+19T>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.148+20_148+29del Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.148+36C>T Single submitter
- c.148+7G>A Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.149-10C>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.149-16T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.149-171A>G Single submitter
- c.149-180C>T Single submitter
- c.149-19T>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.149-9T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.342+10A>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.342+12G>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.342+17A>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.342+8A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.342+94A>G Single submitter
- c.342+9A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.343-16A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.343-20C>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.343-214T>A Single submitter
- c.481+15T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.481+20C>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.482-130C>T Single submitter
- c.482-14T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.482-20C>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.482-292G>A Single submitter
- c.482-5A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.482-7T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.482-9A>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.482-9A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.608+19A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.608+7A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.609-18G>A Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.609-26T>A Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.609-4G>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.609-4G>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.609-7C>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.802+15T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.802+16A>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.802+18dup Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.802+19G>A Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.802+19G>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.802+20T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.802+20T>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.802+22_802+25del Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.803-10G>A Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.803-10G>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.803-147G>A Single submitter
- c.803-14T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.803-166A>G Single submitter
- c.803-17T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.803-231T>C Single submitter
- c.803-4A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.803-8C>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.-23G>A Single submitter
- c.-27-13A>T Single submitter
- c.-27-17_-27-14del Single submitter
- c.-27-20C>G Single submitter
- c.-28+17C>G Single submitter
- p.Ala113= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ala187= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ala231= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ala316= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ala406= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ala96= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Arg16Ser Single submitter Inborn genetic diseases
- p.Arg19= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Arg200= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Arg354= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Arg394= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Arg412= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Arg99= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asn178= Single submitter
- p.Asn249= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asn252= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asn272= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asn284= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asn56= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp128= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp175= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp210= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp262= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp279= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp304= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp341= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Cys21= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gln145= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gln369= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gln94= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Glu174= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Glu426= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gly133= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gly185= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gly232= Single submitter
- p.Gly370= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gly405= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.His253= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.His256= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.His57= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile258= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu160= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu2= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu27= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu295= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu296= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu311= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu343= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu375= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu40= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu407= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu427= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu428= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu5= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Lys211= Single submitter
- p.Lys31= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Lys331= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Lys432= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Lys54= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Lys74= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Lys90= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Phe140= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Phe170= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Phe325= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Phe349= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro23Leu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro265= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro290= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro342= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro345= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro356= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Pro385= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ser18= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ser298= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ser382= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ser389= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Thr123= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Thr154= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Thr42= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Thr87= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Tyr201= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Tyr266= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Val12= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Val129= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Val138= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Val281= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Val302= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Val66= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu309= No assertion criteria TRNT1-related disorder
Uncertain significance 293
- p.Ala273Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala316Thr Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ala358Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg150Cys Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg150His Multiple submitters inherited retinal dystrophy ⚠
- p.Arg361His Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp132Ala Multiple submitters Inborn genetic diseases ⚠
- p.Asp132Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gln145His Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gln189His Multiple submitters Inborn genetic diseases ⚠
- p.Gln189Lys Multiple submitters retinitis pigmentosa and erythrocytic microcytosis ⚠
- p.Gln25Pro Multiple submitters Inborn genetic diseases ⚠
- p.Glu276Lys Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu36Lys Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu36Val Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu423Asp Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu426Asp Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu55Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly109Arg Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gly213Ala Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gly229Ala Multiple submitters Inborn genetic diseases
- p.Gly44Arg Multiple submitters Inborn genetic diseases ⚠
- p.His57Gln Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.His9Gln Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile155Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile208Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile233Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile255Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile404Thr Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile431Val Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile78Thr Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu22Arg Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu275Ser Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu296Val Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu309Val Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu40Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu70Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys211Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys228Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys283Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys331Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys331Glu Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Met100Val Multiple submitters Inborn genetic diseases ⚠
- p.Met30Val Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Phe167Ser Multiple submitters Inborn genetic diseases ⚠
- p.Phe183Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe300Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro217Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro270Ser Multiple submitters Inborn genetic diseases
- p.Thr360Ile Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Thr434Ser Multiple submitters congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Tyr259Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Val263Met Multiple submitters Inborn genetic diseases ⚠
- c.1056+3A>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.1056+6T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.148+3G>A Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.148+5G>C Single submitter
- c.149-6_149-2del Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.342+20G>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.343-69_343-8del Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.481+4A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.481+5T>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.482-4A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.482-8A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.608+6A>G Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.608+6A>T Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- c.802+5G>C Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ala136= Single submitter inherited retinal dystrophy
- p.Ala136Gly Single submitter ⚠
- p.Ala148Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ala187Val Single submitter
- p.Ala224Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ala227Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ala231Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ala264Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ala271Thr Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ala316Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ala358Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ala62Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ala62Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ala84Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ala84Pro Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg126Trp Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg15Cys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg182Lys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg182Thr Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg197Lys Single submitter ⚠
- p.Arg203= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Arg237Gly Single submitter ⚠
- p.Arg237Lys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg237Ser Single submitter ⚠
- p.Arg330Lys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg330Thr Single submitter inherited retinal dystrophy ⚠
- p.Arg361Cys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg361Leu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg394Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg412Gln Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg60Ile Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg60Thr Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Arg99Gln Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asn102Tyr Single submitter Inborn genetic diseases
- p.Asn156Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn272Ile Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asn71Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp128Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp168His Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp168Tyr Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp194Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp214Asn Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp216Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp260Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp286Asn Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp286Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp310Tyr Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp332His Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp338Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp341Asn Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp348Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Asp352His Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp425Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Asp425Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Cys363Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Cys373Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys4= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gln25Arg Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gln25His Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gln25Lys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gln303Glu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gln303His Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gln33Leu Single submitter Inborn genetic diseases ⚠
- p.Gln379Glu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gln380His Single submitter Inborn genetic diseases ⚠
- p.Gln38Glu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gln38His Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gln409Glu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gln410dup Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gln414Glu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gln88= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gln88Arg Single submitter ⚠
- p.Gln88Glu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gln88His Single submitter retinitis pigmentosa and erythrocytic microcytosis ⚠
- p.Gln94His Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu121Lys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu137Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu193Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu318Gln Single submitter Inborn genetic diseases ⚠
- p.Glu319Gly Single submitter Inborn genetic diseases ⚠
- p.Glu36Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu371Gly Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu377Gln Single submitter ⚠
- p.Glu377Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu413Lys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu426Gln Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Glu58Lys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gly105Arg Single submitter Inborn genetic diseases ⚠
- p.Gly133Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gly172Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gly185Arg Single submitter Inborn genetic diseases ⚠
- p.Gly213Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gly229Asp Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gly248Asp Single submitter ⚠
- p.Gly248Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gly323Asp Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gly397Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Gly405Arg Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Gly72Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.His108Asp Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.His116Gln Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.His135Tyr Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.His186Leu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.His186Tyr Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.His250Arg Single submitter inherited retinal dystrophy ⚠
- p.His250Asp Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.His256Asn Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.His57Arg Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile191Met Single submitter Inborn genetic diseases
- p.Ile198Leu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile208Thr Single submitter Inborn genetic diseases ⚠
- p.Ile223Met Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile223Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile255Ser Single submitter Inborn genetic diseases ⚠
- p.Ile258Met Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile258Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile267Thr Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile315Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile334Thr Single submitter Inborn genetic diseases ⚠
- p.Ile351Lys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile351Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile393Asn Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile393Phe Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile431fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ile61Arg Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile78Met Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ile98Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu13Pro Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu196Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu20Pro Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu22Phe Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu242Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu246Phe Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu257Phe Single submitter Inborn genetic diseases ⚠
- p.Leu27Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu295Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu299Ile Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu313Phe Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu322Phe Single submitter Inborn genetic diseases ⚠
- p.Leu324Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu408Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu428_Ser429insLeu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Leu428Pro Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu51Ile Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Leu70Phe Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys107Arg Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys177Arg Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys211Arg Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys283Glu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys301Asn Single submitter Inborn genetic diseases ⚠
- p.Lys301Thr Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys317Glu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Lys395Glu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys402Arg Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys416Arg Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys417Glu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys417Thr Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys432Asn Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Lys433del Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Lys54Glu Single submitter inherited retinal dystrophy ⚠
- p.Met158Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Met1Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Met92Val Single submitter Inborn genetic diseases ⚠
- p.Phe120Val Single submitter Inborn genetic diseases ⚠
- p.Phe162Leu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Phe167Leu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Phe170Leu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Phe170Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Phe204Cys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Phe278Cys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Phe300Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Phe349Val Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Phe52Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Phe93Ile Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Pro11Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Pro11Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Pro292Leu Single submitter Inborn genetic diseases ⚠
- p.Pro342Leu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Pro345Ala Single submitter Inborn genetic diseases ⚠
- p.Pro345Leu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Pro384Thr Single submitter Inborn genetic diseases ⚠
- p.Ser157Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ser234Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ser274Arg Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ser274Thr Single submitter ⚠
- p.Ser339Gly Single submitter Inborn genetic diseases ⚠
- p.Ser382Pro Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ser382Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser418Cys Single submitter Inborn genetic diseases ⚠
- p.Ser429Ile Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ser47Ile Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ser95Leu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Ter435= Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Ter435Tyr Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Thr112Ala Single submitter Inborn genetic diseases
- p.Thr112Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Thr123Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Thr130Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Thr131Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Thr131Ser Single submitter Inborn genetic diseases ⚠
- p.Thr141Ile Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Thr154Pro Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Thr165Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Thr337Lys Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Thr359Ala Single submitter Inborn genetic diseases ⚠
- p.Thr360Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Thr360Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Thr49= Single submitter
- p.Thr49Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Thr85= Single submitter inherited retinal dystrophy
- p.Trp239Ser Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Trp381Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr169Asp Single submitter inherited retinal dystrophy ⚠
- p.Tyr169His Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Tyr259Asp Single submitter
- p.Tyr420Ter Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Tyr430fs Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
- p.Tyr430Phe Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Tyr430Ter Single submitter
- p.Val138Ile Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Val184Ile Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Val247Phe Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Val285Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Val388Ile Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Val396Ala Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠
- p.Val66Leu Single submitter congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome ⚠