CYP4F22 — 307 ClinVar variants
All ClinVar germline CYP4F22 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →
37 Pathogenic · 4 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 22 Conflicting · 54 Benign · 4 Benign/Likely benign · 59 Likely benign · 112 Uncertain significance
Full CYP4F22 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 120
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CYP4F22 p.Arg362Gln
Pathogenic/Likely pathogenic
Multiple submitters
lamellar ichthyosis
-
CYP4F22 p.Arg372Trp
Likely pathogenic
Multiple submitters
lamellar ichthyosis
- CYP4F22 p.Arg495Cys Pathogenic Single submitter
-
CYP4F22 p.Arg283Trp
Pathogenic
No assertion criteria
autosomal recessive congenital ichthyosis 5
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CYP4F22 p.Ala23Val
Conflicting
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Arg246Cys
Conflicting
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Arg246His
Conflicting
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Arg7His
Conflicting
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Pro127Ser
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CYP4F22 p.Arg397His
Uncertain significance
Multiple submitters
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Asp338Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4F22 p.Gly290Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4F22 p.Pro105Leu
Uncertain significance
Multiple submitters
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Ala124Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Ala126Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Ala18Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Ala23Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Ala470Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Arg187Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Arg284Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4F22 p.Arg37Leu Uncertain significance Single submitter
-
CYP4F22 p.Arg419His
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4F22 p.Arg451Ser Uncertain significance Single submitter
-
CYP4F22 p.Arg515Leu
Uncertain significance
Single submitter
atopic eczema
-
CYP4F22 p.Asp304Glu
Uncertain significance
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Asp324Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4F22 p.Asp330Glu Uncertain significance Single submitter
-
CYP4F22 p.Asp330Val
Uncertain significance
Single submitter
autosomal recessive congenital ichthyosis 5
- CYP4F22 p.Asp84Val Uncertain significance Single submitter
-
CYP4F22 p.Cys475Tyr
Uncertain significance
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Gln212Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Gln288Lys
Uncertain significance
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Gln398His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Gly477Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Ile167Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Ile426Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Leu348Pro
Uncertain significance
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Leu404Pro
Uncertain significance
Single submitter
atopic eczema
-
CYP4F22 p.Leu498Arg
Uncertain significance
Single submitter
autosomal recessive congenital ichthyosis 5
- CYP4F22 p.Lys128Glu Uncertain significance Single submitter
-
CYP4F22 p.Lys509Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Met199Val
Uncertain significance
Single submitter
autosomal recessive congenital ichthyosis 5
- CYP4F22 p.Met333Ile Uncertain significance Single submitter
-
CYP4F22 p.Phe30Ser
Uncertain significance
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Phe334Ser
Uncertain significance
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Pro449Ser
Uncertain significance
Single submitter
Ichthyosis and erythrokeratoderma
-
CYP4F22 p.Pro467His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Pro77Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4F22 p.Ser237Arg Uncertain significance Single submitter
- CYP4F22 p.Ser341Phe Uncertain significance Single submitter
- CYP4F22 p.Ser469Pro Uncertain significance Single submitter
-
CYP4F22 p.Thr207Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4F22 p.Thr339Lys Uncertain significance Single submitter
-
CYP4F22 p.Thr339Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4F22 p.Thr492Ile Uncertain significance Single submitter
-
CYP4F22 p.Tyr250His
Uncertain significance
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Val108Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Val241Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Val466Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 61
The independent predictors disagree with each other — read with care.
-
CYP4F22 p.Arg154Gln
Uncertain significance
Multiple submitters
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Arg154Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4F22 p.Arg262Gln
Likely benign
Multiple submitters
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Arg284Trp
Uncertain significance
Multiple submitters
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Arg57Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4F22 p.Glu292Lys
Uncertain significance
Multiple submitters
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Pro355Leu
Uncertain significance
Multiple submitters
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Ser196Cys
Benign
Multiple submitters
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Tyr432Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYP4F22 p.Ala162Gly
Conflicting
Single submitter
Inborn genetic diseases
- CYP4F22 p.Ala162Thr Likely benign Single submitter
- CYP4F22 p.Ala179Thr Likely benign Single submitter
-
CYP4F22 p.Ala259Gly
Conflicting
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Arg157Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Arg157His
Conflicting
Single submitter
autosomal recessive congenital ichthyosis 5
- CYP4F22 p.Arg187Trp Likely benign Single submitter
-
CYP4F22 p.Arg242Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4F22 p.Arg257Cys Likely benign Single submitter
- CYP4F22 p.Arg257His Uncertain significance Single submitter
-
CYP4F22 p.Arg262Trp
Uncertain significance
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Arg265Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4F22 p.Arg282Gln Conflicting Single submitter
-
CYP4F22 p.Arg283Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Arg287His
Likely benign
Single submitter
Inborn genetic diseases
- CYP4F22 p.Arg37Cys Likely benign Single submitter
-
CYP4F22 p.Arg41Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Arg41Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4F22 p.Arg451His Uncertain significance Single submitter
-
CYP4F22 p.Arg54Cys
Conflicting
Single submitter
Inborn genetic diseases
- CYP4F22 p.Arg54His Uncertain significance Single submitter
-
CYP4F22 p.Arg55Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Arg65His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Arg7Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Asn219Lys
Conflicting
Single submitter
Inborn genetic diseases
- CYP4F22 p.Asp142Tyr Uncertain significance Single submitter
-
CYP4F22 p.Asp198Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Asp252Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Asp453Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Cys214Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Gln244Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4F22 p.Gln280Leu Uncertain significance Single submitter
- CYP4F22 p.Gln458Arg Likely benign Single submitter
-
CYP4F22 p.Glu511Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Glu517Asp
Uncertain significance
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Glu525Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Glu525Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4F22 p.His155Tyr Conflicting Single submitter
-
CYP4F22 p.Ile476Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Leu396Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CYP4F22 p.Leu485Val Benign Single submitter
-
CYP4F22 p.Leu493Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Leu69Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Pro117Leu
Conflicting
Single submitter
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Pro60Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Ser220Thr
Conflicting
Single submitter
autosomal recessive congenital ichthyosis 5
- CYP4F22 p.Ser406Phe Uncertain significance Single submitter
-
CYP4F22 p.Thr17Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYP4F22 p.Arg486Cys
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
-
CYP4F22 p.Glu511Gly
Pathogenic
No assertion criteria
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Ile233Leu
Pathogenic
No assertion criteria
autosomal recessive congenital ichthyosis 5
-
CYP4F22 p.Ile306Thr
Pathogenic
No assertion criteria
autosomal recessive congenital ichthyosis 5
All CYP4F22 variants
Pathogenic 37
- p.Arg156Cys Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Arg243His Multiple submitters lamellar ichthyosis
- p.Arg326Ter Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Arg362Ter Multiple submitters lamellar ichthyosis
- p.His435Tyr Multiple submitters lamellar ichthyosis
- p.Ile21fs Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Trp99Ter Multiple submitters autosomal recessive congenital ichthyosis 5
- c.1007-2A>G Single submitter
- p.Arg282Trp Single submitter lamellar ichthyosis
- p.Arg495Cys Single submitter ⚠
- p.Asn219fs Single submitter
- p.Cys46fs Single submitter
- p.Gln223Ter Single submitter autosomal recessive congenital ichthyosis 5
- p.Gly81Asp Single submitter lamellar ichthyosis
- p.Thr403fs Single submitter lamellar ichthyosis
- p.Tyr465Ter Single submitter
- p.Val241fs Single submitter autosomal recessive congenital ichthyosis 5
- c.1137-18_1137-4del No assertion criteria autosomal recessive congenital ichthyosis 5
- c.1138del No assertion criteria autosomal recessive congenital ichthyosis 5
- c.367+1G>A No assertion criteria autosomal recessive congenital ichthyosis 5
- c.421+1G>A No assertion criteria autosomal recessive congenital ichthyosis 5
- c.549+5G>C No assertion criteria autosomal recessive congenital ichthyosis 5
- c.550-2A>T No assertion criteria autosomal recessive congenital ichthyosis 5
- p.Arg156His No assertion criteria autosomal recessive congenital ichthyosis 5
- p.Arg283Trp No assertion criteria autosomal recessive congenital ichthyosis 5 ⚠
- p.Arg362Gly No assertion criteria autosomal recessive congenital ichthyosis 5
- p.Arg451Pro No assertion criteria autosomal recessive congenital ichthyosis 5
- p.Asp198Tyr No assertion criteria autosomal recessive congenital ichthyosis 5
- p.Glu328fs No assertion criteria autosomal recessive congenital ichthyosis 5
- p.Glu511Gly No assertion criteria autosomal recessive congenital ichthyosis 5 ⚠
- p.His436Asp No assertion criteria autosomal recessive congenital ichthyosis 5
- p.Ile233Leu No assertion criteria autosomal recessive congenital ichthyosis 5 ⚠
- p.Ile306Thr No assertion criteria autosomal recessive congenital ichthyosis 5 ⚠
- p.Phe165_Ile167delinsLeuAspPhe No assertion criteria autosomal recessive congenital ichthyosis 5
- p.Thr388Lys No assertion criteria autosomal recessive congenital ichthyosis 5
- p.Trp521Ter No assertion criteria autosomal recessive congenital ichthyosis 5
- p.Val215fs No assertion criteria autosomal recessive congenital ichthyosis 5
Pathogenic/Likely pathogenic 4
- p.Arg243Cys Multiple submitters lamellar ichthyosis
- p.Arg362Gln Multiple submitters lamellar ichthyosis ⚠
- p.Leu144fs Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Phe59Leu Multiple submitters lamellar ichthyosis
Likely pathogenic 15
- c.223-10C>G Multiple submitters
- c.940-1G>A Multiple submitters lamellar ichthyosis
- p.Arg372Trp Multiple submitters lamellar ichthyosis ⚠
- c.1419-1G>A Single submitter
- p.Arg397Cys Single submitter lamellar ichthyosis
- p.Arg407Cys Single submitter autosomal recessive congenital ichthyosis 5
- p.Arg451Cys Single submitter autosomal recessive congenital ichthyosis 5
- p.Glu328Lys Single submitter lamellar ichthyosis
- p.Glu79Gly Single submitter autosomal recessive congenital ichthyosis 5
- p.Ile254fs Single submitter lamellar ichthyosis
- p.Leu404fs Single submitter autosomal recessive congenital ichthyosis 5
- p.Leu520Pro Single submitter autosomal recessive congenital ichthyosis 5
- p.Lys393del Single submitter autosomal recessive congenital ichthyosis 5
- p.Phe496Leu Single submitter lamellar ichthyosis
- p.Val308fs Single submitter autosomal recessive congenital ichthyosis 5
Conflicting classifications of pathogenicity 22
- c.1006+13G>A Single submitter autosomal recessive congenital ichthyosis 5
- c.1137-15C>G Single submitter autosomal recessive congenital ichthyosis 5
- c.222+15G>A Single submitter autosomal recessive congenital ichthyosis 5
- c.672-9C>T Single submitter autosomal recessive congenital ichthyosis 5
- p.Ala162Gly Single submitter Inborn genetic diseases ⚠
- p.Ala23Val Single submitter Inborn genetic diseases ⚠
- p.Ala259Gly Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Ala291= Single submitter autosomal recessive congenital ichthyosis 5
- p.Arg157His Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Arg246Cys Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Arg246His Single submitter Inborn genetic diseases ⚠
- p.Arg282Gln Single submitter ⚠
- p.Arg54Cys Single submitter Inborn genetic diseases ⚠
- p.Arg7His Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Asn219Lys Single submitter Inborn genetic diseases ⚠
- p.Asp129= Single submitter autosomal recessive congenital ichthyosis 5
- p.Glu511Gln Single submitter Inborn genetic diseases ⚠
- p.His155Tyr Single submitter ⚠
- p.Leu251= Single submitter autosomal recessive congenital ichthyosis 5
- p.Pro117Leu Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Pro127Ser Single submitter Inborn genetic diseases ⚠
- p.Ser220Thr Single submitter autosomal recessive congenital ichthyosis 5 ⚠
Benign 54
- c.1136+63C>G Multiple submitters
- c.1136+78C>T Multiple submitters
- c.1137-106A>T Multiple submitters
- c.1137-108A>T Multiple submitters
- c.1137-112G>A Multiple submitters
- c.1419-229A>G Multiple submitters
- c.367+5G>A Multiple submitters autosomal recessive congenital ichthyosis 5
- c.368-176C>T Multiple submitters
- c.368-24C>T Multiple submitters autosomal recessive congenital ichthyosis 5
- c.368-9C>G Multiple submitters autosomal recessive congenital ichthyosis 5
- c.671+63G>T Multiple submitters
- c.672-169G>A Multiple submitters
- c.939+15_939+16del Multiple submitters autosomal recessive congenital ichthyosis 5
- c.939+21_939+22del Multiple submitters autosomal recessive congenital ichthyosis 5
- c.939+23T>G Multiple submitters
- c.939+25C>G Multiple submitters autosomal recessive congenital ichthyosis 5
- c.939+32C>G Multiple submitters
- c.939+36A>T Multiple submitters
- c.939+40C>A Multiple submitters
- c.-1-29A>G Multiple submitters
- c.*183T>G Multiple submitters autosomal recessive congenital ichthyosis 5
- c.*262C>A Multiple submitters autosomal recessive congenital ichthyosis 5
- c.*450C>A Multiple submitters autosomal recessive congenital ichthyosis 5
- c.*90C>A Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Ala194= Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Gly149= Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Lys505Gln Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Ser178Cys Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Ser196Cys Multiple submitters autosomal recessive congenital ichthyosis 5 ⚠
- c.1136+220A>G Single submitter
- c.1137-105GT[25] Single submitter
- c.1137-112_1137-105del Single submitter
- c.1137-112_1137-107del Single submitter
- c.1137-112_1137-99del Single submitter
- c.1137-114_1137-103del Single submitter
- c.1137-114_1137-105del Single submitter
- c.1137-114_1137-95del Single submitter
- c.1137-139GA[12] Single submitter
- c.1335+17C>G Single submitter
- c.1336-101del Single submitter
- c.222+313T>A Single submitter
- c.223-232G>T Single submitter
- c.367+308G>A Single submitter
- c.368-289G>A Single submitter
- c.421+8C>A Single submitter
- c.939+147C>T Single submitter
- c.939+28_939+29insAGC Single submitter
- c.939+35del Single submitter
- c.940-151G>A Single submitter
- c.940-95_940-94del Single submitter
- p.Ala259= Single submitter
- p.Asp6= Single submitter
- p.Leu485Val Single submitter ⚠
- p.Pro105= Single submitter
Benign/Likely benign 4
- c.939+15_939+40delinsTGGAGGGTGGAGCCCTGCCTGGGA Multiple submitters
- p.Phe59= Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Ser231= Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Thr17= Multiple submitters autosomal recessive congenital ichthyosis 5
Likely benign 59
- c.*191G>T Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Ala238Thr Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Arg262Gln Multiple submitters autosomal recessive congenital ichthyosis 5 ⚠
- c.1006+12G>C Single submitter
- c.1007-15C>T Single submitter
- c.1137-7_1137-4dup Single submitter
- c.1270+17G>A Single submitter
- c.1271-13T>C Single submitter
- c.1271-7C>T Single submitter
- c.1335+15C>T Single submitter
- c.222+11C>A Single submitter
- c.223-14C>T Single submitter
- c.368-13T>C Single submitter
- c.550-18C>A Single submitter
- c.671+20G>A Single submitter
- c.672-16C>T Single submitter
- c.940-6T>C Single submitter
- c.940-7A>G Single submitter
- c.*26G>A Single submitter autosomal recessive congenital ichthyosis 5
- p.Ala162Thr Single submitter ⚠
- p.Ala179Thr Single submitter ⚠
- p.Ala194Val Single submitter
- p.Ala80= Single submitter
- p.Arg187Trp Single submitter ⚠
- p.Arg257Cys Single submitter ⚠
- p.Arg282= Single submitter
- p.Arg287His Single submitter Inborn genetic diseases ⚠
- p.Arg37Cys Single submitter ⚠
- p.Arg41= Single submitter
- p.Arg419Cys Single submitter
- p.Arg44= Single submitter
- p.Arg64= Single submitter
- p.Asp322= Single submitter
- p.Cys361= Single submitter
- p.Gln289= Single submitter
- p.Gln458Arg Single submitter ⚠
- p.Gly519= Single submitter
- p.Ile181= Single submitter
- p.Ile476= Single submitter
- p.Leu208= Single submitter
- p.Leu32= Single submitter
- p.Leu498= Single submitter
- p.Leu72= Single submitter
- p.Lys296= Single submitter
- p.Pro161= Single submitter
- p.Pro462= Single submitter
- p.Ser237= Single submitter
- p.Thr26Ala Single submitter Inborn genetic diseases
- p.Thr339= Single submitter
- p.Thr410= Single submitter
- p.Thr439= Single submitter
- p.Thr516= Single submitter
- p.Tyr22= Single submitter
- p.Tyr245Cys Single submitter
- p.Tyr357His Single submitter
- p.Val446= Single submitter
- p.Val95= Single submitter
- p.Arg486Cys No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
- p.Asp380= No assertion criteria CYP4F22-related disorder
Uncertain significance 112
- c.-1-1G>A Multiple submitters autosomal recessive congenital ichthyosis 5
- c.*15C>T Multiple submitters autosomal recessive congenital ichthyosis 5
- c.*422A>C Multiple submitters autosomal recessive congenital ichthyosis 5
- c.*432A>C Multiple submitters autosomal recessive congenital ichthyosis 5
- p.Arg154Gln Multiple submitters autosomal recessive congenital ichthyosis 5 ⚠
- p.Arg154Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg284Trp Multiple submitters autosomal recessive congenital ichthyosis 5 ⚠
- p.Arg397His Multiple submitters autosomal recessive congenital ichthyosis 5 ⚠
- p.Arg57Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp338Asn Multiple submitters Inborn genetic diseases ⚠
- p.Glu292Lys Multiple submitters autosomal recessive congenital ichthyosis 5 ⚠
- p.Gly290Trp Multiple submitters Inborn genetic diseases ⚠
- p.Pro105Leu Multiple submitters autosomal recessive congenital ichthyosis 5 ⚠
- p.Pro355Leu Multiple submitters autosomal recessive congenital ichthyosis 5 ⚠
- p.Tyr432Cys Multiple submitters Inborn genetic diseases ⚠
- c.1270+5C>T Single submitter autosomal recessive congenital ichthyosis 5
- c.1418+8C>T Single submitter autosomal recessive congenital ichthyosis 5
- c.550-11_550-4delinsGGTGACATCTGG Single submitter autosomal recessive congenital ichthyosis 5
- c.671+5G>A Single submitter autosomal recessive congenital ichthyosis 5
- c.-123G>A Single submitter autosomal recessive congenital ichthyosis 5
- c.*150T>C Single submitter autosomal recessive congenital ichthyosis 5
- c.*187C>T Single submitter autosomal recessive congenital ichthyosis 5
- c.*314G>A Single submitter autosomal recessive congenital ichthyosis 5
- c.*426C>T Single submitter autosomal recessive congenital ichthyosis 5
- c.*427C>G Single submitter autosomal recessive congenital ichthyosis 5
- c.*429C>G Single submitter autosomal recessive congenital ichthyosis 5
- c.*430C>G Single submitter autosomal recessive congenital ichthyosis 5
- c.*45C>T Single submitter autosomal recessive congenital ichthyosis 5
- c.*612C>A Single submitter autosomal recessive congenital ichthyosis 5
- c.*650C>T Single submitter autosomal recessive congenital ichthyosis 5
- c.*812T>G Single submitter autosomal recessive congenital ichthyosis 5
- c.*95C>G Single submitter autosomal recessive congenital ichthyosis 5
- p.Ala124Ser Single submitter Inborn genetic diseases ⚠
- p.Ala126Asn Single submitter
- p.Ala126Asp Single submitter Inborn genetic diseases ⚠
- p.Ala18Val Single submitter Inborn genetic diseases ⚠
- p.Ala23Thr Single submitter Inborn genetic diseases ⚠
- p.Ala470Val Single submitter Inborn genetic diseases ⚠
- p.Arg157Cys Single submitter Inborn genetic diseases ⚠
- p.Arg187Gln Single submitter Inborn genetic diseases ⚠
- p.Arg242Trp Single submitter Inborn genetic diseases ⚠
- p.Arg257His Single submitter ⚠
- p.Arg262Trp Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Arg265Trp Single submitter Inborn genetic diseases ⚠
- p.Arg283Gln Single submitter Inborn genetic diseases ⚠
- p.Arg284Gln Single submitter Inborn genetic diseases ⚠
- p.Arg37Leu Single submitter ⚠
- p.Arg419His Single submitter Inborn genetic diseases ⚠
- p.Arg41Pro Single submitter Inborn genetic diseases ⚠
- p.Arg41Trp Single submitter Inborn genetic diseases ⚠
- p.Arg451His Single submitter ⚠
- p.Arg451Ser Single submitter ⚠
- p.Arg515Leu Single submitter atopic eczema ⚠
- p.Arg54His Single submitter ⚠
- p.Arg55Trp Single submitter Inborn genetic diseases ⚠
- p.Arg65His Single submitter Inborn genetic diseases ⚠
- p.Arg7Cys Single submitter Inborn genetic diseases ⚠
- p.Asn518fs Single submitter
- p.Asp142Tyr Single submitter ⚠
- p.Asp198Glu Single submitter Inborn genetic diseases ⚠
- p.Asp252Asn Single submitter Inborn genetic diseases ⚠
- p.Asp304Glu Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Asp324Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp330Glu Single submitter ⚠
- p.Asp330Val Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Asp453Val Single submitter Inborn genetic diseases ⚠
- p.Asp84Val Single submitter ⚠
- p.Cys214Ser Single submitter Inborn genetic diseases ⚠
- p.Cys475Tyr Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Gln212Leu Single submitter Inborn genetic diseases ⚠
- p.Gln244Arg Single submitter Inborn genetic diseases ⚠
- p.Gln280Leu Single submitter ⚠
- p.Gln288Lys Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Gln398His Single submitter Inborn genetic diseases ⚠
- p.Glu517Asp Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Glu525Asp Single submitter Inborn genetic diseases ⚠
- p.Glu525Gly Single submitter Inborn genetic diseases ⚠
- p.Gly477Glu Single submitter Inborn genetic diseases ⚠
- p.Ile167Thr Single submitter Inborn genetic diseases ⚠
- p.Ile21_Tyr22insLeu Single submitter
- p.Ile426Val Single submitter Inborn genetic diseases ⚠
- p.Ile476Val Single submitter Inborn genetic diseases ⚠
- p.Leu348Pro Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Leu396Met Single submitter Inborn genetic diseases ⚠
- p.Leu404Pro Single submitter atopic eczema ⚠
- p.Leu493Met Single submitter Inborn genetic diseases ⚠
- p.Leu498Arg Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Leu69Val Single submitter Inborn genetic diseases ⚠
- p.Lys128Glu Single submitter ⚠
- p.Lys509Asn Single submitter Inborn genetic diseases ⚠
- p.Met199Val Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Met333Ile Single submitter ⚠
- p.Phe30Ser Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Phe334Ser Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Pro449Ser Single submitter Ichthyosis and erythrokeratoderma ⚠
- p.Pro467His Single submitter Inborn genetic diseases ⚠
- p.Pro60Arg Single submitter Inborn genetic diseases ⚠
- p.Pro77Ser Single submitter Inborn genetic diseases ⚠
- p.Ser237Arg Single submitter ⚠
- p.Ser341Phe Single submitter ⚠
- p.Ser406Phe Single submitter ⚠
- p.Ser469Pro Single submitter ⚠
- p.Thr17Arg Single submitter Inborn genetic diseases ⚠
- p.Thr207Ile Single submitter Inborn genetic diseases ⚠
- p.Thr339Lys Single submitter ⚠
- p.Thr339Ser Single submitter Inborn genetic diseases ⚠
- p.Thr492Ile Single submitter ⚠
- p.Tyr250His Single submitter autosomal recessive congenital ichthyosis 5 ⚠
- p.Val108Ala Single submitter Inborn genetic diseases ⚠
- p.Val241Leu Single submitter Inborn genetic diseases ⚠
- p.Val466Ala Single submitter Inborn genetic diseases ⚠
- c.549+3G>A No assertion criteria autosomal recessive congenital ichthyosis 5