CCBE1 — 550 ClinVar variants
All ClinVar germline CCBE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 166 flagged for review →
12 Pathogenic · 5 Likely pathogenic · 24 Conflicting · 73 Benign · 3 Benign/Likely benign · 175 Likely benign · 258 Uncertain significance
Full CCBE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 166
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 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CCBE1 p.Arg167Gln
Conflicting
Single submitter
Inborn genetic diseases
-
CCBE1 p.Arg360Gln
Conflicting
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Asp388Gly
Conflicting
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Cys75Ser
Conflicting
Single submitter
Fetal anomalies with a likely genetic cause
-
CCBE1 p.Thr234Ala
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CCBE1 p.Ala28Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Arg127Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Arg282Gln
Uncertain significance
Multiple submitters
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Arg301Gln
Uncertain significance
Multiple submitters
CCBE1-related disorder
-
CCBE1 p.Arg346Cys
Uncertain significance
Multiple submitters
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Arg346Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Asn224Ser
Uncertain significance
Multiple submitters
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Asn347Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Asp178Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Gly235Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Gly386Ala
Uncertain significance
Multiple submitters
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Ile149Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Leu383Pro
Uncertain significance
Multiple submitters
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Met285Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Phe269Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Tyr119Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Val92Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CCBE1 p.Ala310Val Uncertain significance Single submitter
- CCBE1 p.Ala400Thr Uncertain significance Single submitter
- CCBE1 p.Arg158His Uncertain significance Single submitter
- CCBE1 p.Arg176Ser Uncertain significance Single submitter
- CCBE1 p.Arg302Lys Uncertain significance Single submitter
- CCBE1 p.Arg392Ile Uncertain significance Single submitter
- CCBE1 p.Arg399Lys Uncertain significance Single submitter
-
CCBE1 p.Arg8Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Asn182Ile
Uncertain significance
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Asp183Tyr
Uncertain significance
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
- CCBE1 p.Asp344His Uncertain significance Single submitter
- CCBE1 p.Asp41Asn Uncertain significance Single submitter
- CCBE1 p.Asp91Asn Uncertain significance Single submitter
-
CCBE1 p.Cys146Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Cys199Tyr Uncertain significance Single submitter
-
CCBE1 p.Cys47Ser
Uncertain significance
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Cys85Arg
Uncertain significance
Single submitter
CCBE1-related disorder
- CCBE1 p.Gln101His Uncertain significance Single submitter
- CCBE1 p.Gln255Arg Uncertain significance Single submitter
-
CCBE1 p.Gln353Arg
Uncertain significance
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Gln372His
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Glu187Gly Uncertain significance Single submitter
- CCBE1 p.Glu190Gly Uncertain significance Single submitter
- CCBE1 p.Glu40Gln Uncertain significance Single submitter
-
CCBE1 p.Gly10Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Gly116Ala Uncertain significance Single submitter
-
CCBE1 p.Gly116Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Gly315Asp Uncertain significance Single submitter
- CCBE1 p.Gly318Trp Uncertain significance Single submitter
- CCBE1 p.Gly358Arg Uncertain significance Single submitter
-
CCBE1 p.Gly83Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.His359Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.His389Arg Uncertain significance Single submitter
- CCBE1 p.Ile233Met Uncertain significance Single submitter
-
CCBE1 p.Ile297Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Ile349Val Uncertain significance Single submitter
-
CCBE1 p.Ile86Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Leu154Val
Uncertain significance
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
- CCBE1 p.Leu229Met Uncertain significance Single submitter
-
CCBE1 p.Leu245Val
Uncertain significance
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
- CCBE1 p.Lys317Glu Uncertain significance Single submitter
-
CCBE1 p.Lys56Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Lys56Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Lys76Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Met192Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Met341Thr
Uncertain significance
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
- CCBE1 p.Met381Thr Uncertain significance Single submitter
- CCBE1 p.Met381Val Uncertain significance Single submitter
- CCBE1 p.Phe374Ile Uncertain significance Single submitter
- CCBE1 p.Pro275Leu Uncertain significance Single submitter
-
CCBE1 p.Pro292Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Pro331Ser Uncertain significance Single submitter
- CCBE1 p.Pro371Ser Uncertain significance Single submitter
- CCBE1 p.Pro39Leu Uncertain significance Single submitter
- CCBE1 p.Pro406Gln Uncertain significance Single submitter
- CCBE1 p.Pro97Ser Uncertain significance Single submitter
- CCBE1 p.Ser19Arg Uncertain significance Single submitter
-
CCBE1 p.Ser241Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Ser260Pro Uncertain significance Single submitter
- CCBE1 p.Ser376Gly Uncertain significance Single submitter
-
CCBE1 p.Ser7Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Thr211Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Thr350Ile Uncertain significance Single submitter
-
CCBE1 p.Tyr131His
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Tyr405Ser Uncertain significance Single submitter
- CCBE1 p.Val193Ala Uncertain significance Single submitter
Predictors split 78
The independent predictors disagree with each other — read with care.
-
CCBE1 p.Ala322Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Ala96Gly
Uncertain significance
Multiple submitters
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Arg121Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Arg125Trp
Uncertain significance
Multiple submitters
Hennekam lymphangiectasia-lymphedema syndrome 1
- CCBE1 p.Arg127Trp Uncertain significance Multiple submitters
-
CCBE1 p.Arg162Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Arg162Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Arg167Trp
Benign
Multiple submitters
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Arg301Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Glu160Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Glu40Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Glu65Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CCBE1 p.Gly196Arg Uncertain significance Multiple submitters
-
CCBE1 p.Gly64Ser
Uncertain significance
Multiple submitters
CCBE1-related disorder
-
CCBE1 p.Leu222Phe
Uncertain significance
Multiple submitters
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Leu222Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Leu24Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Phe335Leu
Uncertain significance
Multiple submitters
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Pro290Leu
Uncertain significance
Multiple submitters
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Pro4Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CCBE1 p.Pro87Ser
Uncertain significance
Multiple submitters
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Thr34Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CCBE1 p.Arg118Gln Uncertain significance Single submitter
- CCBE1 p.Arg118Leu Uncertain significance Single submitter
- CCBE1 p.Arg121Trp Uncertain significance Single submitter
-
CCBE1 p.Arg158Cys
Conflicting
Single submitter
CCBE1-related disorder
- CCBE1 p.Arg282Trp Uncertain significance Single submitter
- CCBE1 p.Arg326Gly Uncertain significance Single submitter
- CCBE1 p.Arg346His Uncertain significance Single submitter
-
CCBE1 p.Arg360Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Arg391Lys
Conflicting
Single submitter
Inborn genetic diseases
-
CCBE1 p.Arg8Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Asn152Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Asp104Asn
Conflicting
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
- CCBE1 p.Asp169His Uncertain significance Single submitter
- CCBE1 p.Asp170Asn Uncertain significance Single submitter
-
CCBE1 p.Gln210His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Glu168Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Glu319Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Glu351Gly
Uncertain significance
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Glu95Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Glu95Lys Uncertain significance Single submitter
- CCBE1 p.Gly14Val Uncertain significance Single submitter
- CCBE1 p.Gly164Asp Uncertain significance Single submitter
- CCBE1 p.Gly259Ser Uncertain significance Single submitter
- CCBE1 p.Gly271Ser Uncertain significance Single submitter
- CCBE1 p.Gly30Val Uncertain significance Single submitter
-
CCBE1 p.Gly315Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Ile52Thr Uncertain significance Single submitter
-
CCBE1 p.Leu23Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Lys218Asn Uncertain significance Single submitter
-
CCBE1 p.Lys355Thr
Conflicting
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
-
CCBE1 p.Lys56Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CCBE1 p.Lys56Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Met288Ile Uncertain significance Single submitter
- CCBE1 p.Pro115Leu Uncertain significance Single submitter
- CCBE1 p.Pro223Leu Uncertain significance Single submitter
- CCBE1 p.Pro249Leu Uncertain significance Single submitter
- CCBE1 p.Pro267Leu Uncertain significance Single submitter
- CCBE1 p.Pro270Ser Uncertain significance Single submitter
- CCBE1 p.Pro287Ser Uncertain significance Single submitter
-
CCBE1 p.Pro307Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Pro323His Uncertain significance Single submitter
-
CCBE1 p.Pro325Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Pro58Leu Uncertain significance Single submitter
-
CCBE1 p.Pro87Gln
Conflicting
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
- CCBE1 p.Pro97Ala Uncertain significance Single submitter
- CCBE1 p.Ser19Asn Uncertain significance Single submitter
-
CCBE1 p.Ser334Ala
Uncertain significance
Single submitter
Hennekam lymphangiectasia-lymphedema syndrome 1
- CCBE1 p.Thr103Lys Uncertain significance Single submitter
-
CCBE1 p.Thr144Met
Conflicting
Single submitter
CCBE1-related disorder
- CCBE1 p.Thr153Ile Uncertain significance Single submitter
-
CCBE1 p.Thr201Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CCBE1 p.Thr201Ile Uncertain significance Single submitter
- CCBE1 p.Tyr70His Uncertain significance Single submitter
- CCBE1 p.Val212Met Uncertain significance Single submitter
-
CCBE1 p.Thr153Asn
Uncertain significance
No assertion criteria
CCBE1-related disorder
-
CCBE1 p.Tyr405Cys
Uncertain significance
No assertion criteria
CCBE1-related disorder
All CCBE1 variants
Pathogenic 12
- p.Arg108Ter Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Arg118Ter Single submitter
- p.Arg13fs Single submitter
- p.Cys159Ter Single submitter
- p.Cys174Arg Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Cys98Ter Single submitter
- p.Glu88Ter Single submitter
- p.His296fs Single submitter
- p.Leu229fs Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Met1Ile Single submitter
- p.Cys102Ser No assertion criteria Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Gly327Arg No assertion criteria Hennekam lymphangiectasia-lymphedema syndrome 1
Likely pathogenic 5
- c.265+1G>A Single submitter
- c.400+1del Single submitter
- c.916-2A>T Single submitter
- c.951+1G>A Single submitter
- p.Cys98Tyr Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
Conflicting classifications of pathogenicity 24
- c.131+10G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.213-1G>A Single submitter
- c.265+8A>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.654+10G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.654+5G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.916-2A>G Single submitter Inborn genetic diseases
- c.*2728A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Arg118= Single submitter
- p.Arg158Cys Single submitter CCBE1-related disorder ⚠
- p.Arg167Gln Single submitter Inborn genetic diseases ⚠
- p.Arg360Gln Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Arg391Lys Single submitter Inborn genetic diseases ⚠
- p.Asp104Asn Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Asp388Gly Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Cys75Ser Single submitter Fetal anomalies with a likely genetic cause ⚠
- p.Leu339= Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Lys355Thr Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Pro270= Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Pro87Gln Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Thr144Met Single submitter CCBE1-related disorder ⚠
- p.Thr184= Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Thr234Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr114= Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Tyr57= Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
Benign 73
- c.132-148C>G Multiple submitters
- c.212+233A>G Multiple submitters
- c.213-209G>T Multiple submitters
- c.265+26C>A Multiple submitters
- c.265+28G>C Multiple submitters
- c.265+67C>T Multiple submitters
- c.266-104C>T Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.266-156C>T Multiple submitters
- c.266-30T>C Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.266-45C>T Multiple submitters
- c.266-63G>T Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.400+165A>G Multiple submitters
- c.401-174G>T Multiple submitters
- c.401-225G>C Multiple submitters
- c.401-29T>C Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.553+109A>T Multiple submitters
- c.654+214A>G Multiple submitters
- c.655-155A>T Multiple submitters
- c.655-197C>T Multiple submitters
- c.655-229T>C Multiple submitters
- c.775+12A>G Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.775+171C>T Multiple submitters
- c.775+82A>G Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.776-164G>A Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.952-260T>C Multiple submitters
- c.988-10A>G Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1040C>T Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*14C>T Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2020C>T Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2227G>A Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2242T>C Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2361G>A Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2372C>T Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2673G>A Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2730A>G Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2758C>T Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2825A>G Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3036C>G Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3162T>C Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3475G>C Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3780A>T Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3805T>C Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4398C>A Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4504G>C Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4749C>T Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4788T>C Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4796G>A Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4945C>A Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*814T>G Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Arg167Trp Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Asp41Glu Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Ile52= Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Pro279= Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.132-232C>A Single submitter
- c.265+204C>T Single submitter
- c.553+17T>A Single submitter
- c.553+249A>G Single submitter
- c.553+301A>T Single submitter
- c.951+314C>T Single submitter
- c.988-154dup Single submitter
- c.988-179C>T Single submitter
- c.*1258C>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*154G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1697G>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1969A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2787T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2833C>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2978T>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3533C>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3777A>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4180A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4846G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*616A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
Benign/Likely benign 3
- p.Glu65= Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- p.His186Arg Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Pro181Ser Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
Likely benign 175
- c.131+18C>T Multiple submitters
- c.775+17G>A Multiple submitters
- c.*4934G>T Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Ala94= Multiple submitters
- p.Asn224= Multiple submitters Inborn genetic diseases
- p.Lys179= Multiple submitters
- p.Pro58= Multiple submitters
- p.Ser63= Multiple submitters
- c.131+11_131+12insT Single submitter
- c.131+12A>G Single submitter
- c.131+14G>A Single submitter
- c.131+16C>T Single submitter
- c.131+17C>G Single submitter
- c.132-14_132-13delinsCT Single submitter
- c.132-18C>T Single submitter
- c.132-19C>T Single submitter
- c.132-20T>C Single submitter
- c.212+13G>A Single submitter
- c.212+16C>T Single submitter
- c.212+18G>A Single submitter
- c.212+19C>A Single submitter
- c.212+20G>A Single submitter
- c.212+9G>C Single submitter
- c.213-11_213-8del Single submitter
- c.213-19A>G Single submitter
- c.213-5C>T Single submitter
- c.213-7C>G Single submitter
- c.265+10A>G Single submitter
- c.266-11T>C Single submitter
- c.266-16C>G Single submitter
- c.266-8T>C Single submitter
- c.400+17C>T Single submitter
- c.401-11G>C Single submitter
- c.401-16A>G Single submitter
- c.401-16del Single submitter
- c.401-16dup Single submitter
- c.401-17C>T Single submitter
- c.401-6A>T Single submitter
- c.553+10G>T Single submitter
- c.553+18A>G Single submitter
- c.553+8G>A Single submitter
- c.554-10C>A Single submitter
- c.554-12C>T Single submitter
- c.554-20G>A Single submitter
- c.654+13G>C Single submitter
- c.654+15G>A Single submitter
- c.654+20del Single submitter
- c.654+9C>T Single submitter
- c.655-10C>A Single submitter
- c.655-4G>C Single submitter
- c.655-4G>T Single submitter
- c.655-7C>T Single submitter
- c.655-8_655-6del Single submitter
- c.775+16G>A Single submitter
- c.775+19A>G Single submitter
- c.775+7G>T Single submitter
- c.776-11T>C Single submitter
- c.776-19A>T Single submitter
- c.776-8G>C Single submitter
- c.915+15A>G Single submitter
- c.916-19A>C Single submitter
- c.916-20C>G Single submitter
- c.916-20C>T Single submitter
- c.916-20del Single submitter
- c.916-8T>C Single submitter
- c.951+11T>C Single submitter
- c.951+17G>T Single submitter
- c.951+7C>T Single submitter
- c.952-11T>C Single submitter
- c.987+12del Single submitter
- c.987+13_987+14del Single submitter
- c.987+17_987+18del Single submitter
- c.988-18T>C Single submitter
- c.988-19A>T Single submitter
- c.*1434C>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1942T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2158C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2178C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2403dup Single submitter
- c.*2460T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3080A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3182T>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*337T>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3710A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*378G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3853C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3931G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4498T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4550AAT[1] Single submitter
- p.Ala11= Single submitter
- p.Ala12= Single submitter
- p.Ala195= Single submitter
- p.Ala220= Single submitter
- p.Ala227= Single submitter
- p.Ala28= Single submitter
- p.Ala322= Single submitter
- p.Ala400= Single submitter
- p.Ala53= Single submitter
- p.Arg127= Single submitter
- p.Arg13= Single submitter
- p.Arg167= Single submitter
- p.Arg36= Single submitter
- p.Arg391= Single submitter
- p.Arg399Gly Single submitter Inborn genetic diseases
- p.Arg8= Single submitter
- p.Asn347= Single submitter
- p.Asp236= Single submitter
- p.Asp314= Single submitter
- p.Asp388= Single submitter
- p.Asp41= Single submitter
- p.Asp43= Single submitter
- p.Asp89= Single submitter
- p.Asp91= Single submitter
- p.Cys159= Single submitter
- p.Cys199= Single submitter
- p.Cys202= Single submitter
- p.Gln84= Single submitter
- p.Glu128= Single submitter
- p.Glu204= Single submitter
- p.Glu367= Single submitter
- p.Gly107= Single submitter
- p.Gly143= Single submitter
- p.Gly155= Single submitter
- p.Gly230= Single submitter
- p.Gly274= Single submitter
- p.Gly303= Single submitter
- p.Gly309= Single submitter
- p.Gly64= Single submitter
- p.His148= Single submitter
- p.His296= Single submitter
- p.His362= Single submitter
- p.Ile149= Single submitter
- p.Ile151= Single submitter
- p.Ile349= Single submitter
- p.Ile46= Single submitter
- p.Leu145= Single submitter
- p.Leu213= Single submitter
- p.Leu229= Single submitter
- p.Leu239= Single submitter
- p.Leu294= Single submitter
- p.Lys172= Single submitter
- p.Lys231= Single submitter
- p.Lys264= Single submitter
- p.Lys298= Single submitter
- p.Phe335= Single submitter
- p.Phe357= Single submitter
- p.Phe404= Single submitter
- p.Pro115= Single submitter
- p.Pro181= Single submitter
- p.Pro22= Single submitter
- p.Pro246= Single submitter
- p.Pro261= Single submitter
- p.Pro276= Single submitter
- p.Pro281= Single submitter
- p.Pro4= Single submitter
- p.Ser189= Single submitter
- p.Thr103= Single submitter
- p.Thr144= Single submitter
- p.Thr153= Single submitter
- p.Thr173= Single submitter
- p.Thr175= Single submitter
- p.Thr201= Single submitter
- p.Thr211= Single submitter
- p.Thr243Ala Single submitter Inborn genetic diseases
- p.Thr67= Single submitter
- p.Thr68= Single submitter
- p.Tyr165= Single submitter
- p.Tyr206= Single submitter
- p.Tyr35= Single submitter
- p.Tyr70= Single submitter
- p.Tyr78= Single submitter
- p.Tyr90= Single submitter
- p.Val2= Single submitter
- c.131+5G>A No assertion criteria CCBE1-related disorder
- c.*19C>T No assertion criteria CCBE1-related disorder
Uncertain significance 258
- c.654+5G>C Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*203A>G Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4173A>G Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Ala28Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala322Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala96Gly Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Arg121Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg125Trp Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Arg127Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg127Trp Multiple submitters ⚠
- p.Arg162Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg162Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg282Gln Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Arg301Gln Multiple submitters CCBE1-related disorder ⚠
- p.Arg301Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg346Cys Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Arg346Leu Multiple submitters Inborn genetic diseases ⚠
- p.Asn224Ser Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Asn347Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp178Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu160Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu40Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu65Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly196Arg Multiple submitters ⚠
- p.Gly235Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly386Ala Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Gly64Ser Multiple submitters CCBE1-related disorder ⚠
- p.Ile149Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu222Phe Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Leu222Pro Multiple submitters Inborn genetic diseases ⚠
- p.Leu24Met Multiple submitters Inborn genetic diseases ⚠
- p.Leu383Pro Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Met285Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe269Ser Multiple submitters Inborn genetic diseases ⚠
- p.Phe335Leu Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Pro290Leu Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Pro4Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro87Ser Multiple submitters Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Thr34Asn Multiple submitters Inborn genetic diseases ⚠
- p.Tyr119Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val92Ile Multiple submitters Inborn genetic diseases ⚠
- c.554-3C>T Single submitter
- c.654+4C>G Single submitter
- c.654+4C>T Single submitter
- c.-27G>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.-30G>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1021T>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1190C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1251G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1257T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*126G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1346G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1347C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1401G>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1489G>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*160A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1628T>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1655T>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1724C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1725G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1737C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1771G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*182C>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1861C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*194A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*1992A>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2017G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2023G>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2051C>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2058G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2080C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*20G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2121C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2143G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2210T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2299T>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2340T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2373C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2389C>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2411C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*261T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2635A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2771A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2810A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2891G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2901T>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2903G>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2912G>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*2953C>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3140G>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3143T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3147T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3231G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3239G>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3257A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3430T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3623A>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3704C>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3788T>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3800G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3801G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3809C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3862G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3883G>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3893C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*3922T>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4215A>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4246C>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4282G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4375T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4525T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4710G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4715T>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4738G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4755A>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4773C>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4796G>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4799G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4818G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4877C>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4940A>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*4956A>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*504T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*610G>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*645T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*70A>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*739A>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*752T>C Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*781A>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*803C>G Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*835T>A Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*836C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*938G>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- c.*942C>T Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Ala310fs Single submitter
- p.Ala310Val Single submitter ⚠
- p.Ala400Thr Single submitter ⚠
- p.Arg118Gln Single submitter ⚠
- p.Arg118Leu Single submitter ⚠
- p.Arg121Trp Single submitter ⚠
- p.Arg158His Single submitter ⚠
- p.Arg176Ser Single submitter ⚠
- p.Arg282Trp Single submitter ⚠
- p.Arg302Lys Single submitter ⚠
- p.Arg326Gly Single submitter ⚠
- p.Arg346His Single submitter ⚠
- p.Arg360Trp Single submitter Inborn genetic diseases ⚠
- p.Arg392Ile Single submitter ⚠
- p.Arg399Lys Single submitter ⚠
- p.Arg8Gln Single submitter Inborn genetic diseases ⚠
- p.Arg8Leu Single submitter Inborn genetic diseases ⚠
- p.Asn152Ser Single submitter Inborn genetic diseases ⚠
- p.Asn182Ile Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Asp169His Single submitter ⚠
- p.Asp170Asn Single submitter ⚠
- p.Asp183Tyr Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Asp344His Single submitter ⚠
- p.Asp41Asn Single submitter ⚠
- p.Asp91Asn Single submitter ⚠
- p.Cys146Arg Single submitter Inborn genetic diseases ⚠
- p.Cys199Tyr Single submitter ⚠
- p.Cys47Ser Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Cys85Arg Single submitter CCBE1-related disorder ⚠
- p.Gln101His Single submitter ⚠
- p.Gln210His Single submitter Inborn genetic diseases ⚠
- p.Gln255Arg Single submitter ⚠
- p.Gln353Arg Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Gln372His Single submitter Inborn genetic diseases ⚠
- p.Glu168Lys Single submitter Inborn genetic diseases ⚠
- p.Glu187Gly Single submitter ⚠
- p.Glu190Gly Single submitter ⚠
- p.Glu319Lys Single submitter Inborn genetic diseases ⚠
- p.Glu351Gly Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Glu40Gln Single submitter ⚠
- p.Glu95Gly Single submitter Inborn genetic diseases ⚠
- p.Glu95Lys Single submitter ⚠
- p.Gly10Arg Single submitter Inborn genetic diseases ⚠
- p.Gly116Ala Single submitter ⚠
- p.Gly116Val Single submitter Inborn genetic diseases ⚠
- p.Gly14Val Single submitter ⚠
- p.Gly164Asp Single submitter ⚠
- p.Gly259Ser Single submitter ⚠
- p.Gly271Ser Single submitter ⚠
- p.Gly30Val Single submitter ⚠
- p.Gly315Asp Single submitter ⚠
- p.Gly315Ser Single submitter Inborn genetic diseases ⚠
- p.Gly318Trp Single submitter ⚠
- p.Gly358Arg Single submitter ⚠
- p.Gly358fs Single submitter
- p.Gly83Glu Single submitter Inborn genetic diseases ⚠
- p.His359Leu Single submitter Inborn genetic diseases ⚠
- p.His389Arg Single submitter ⚠
- p.Ile233Met Single submitter ⚠
- p.Ile297Val Single submitter Inborn genetic diseases ⚠
- p.Ile349Val Single submitter ⚠
- p.Ile52Thr Single submitter ⚠
- p.Ile86Met Single submitter Inborn genetic diseases ⚠
- p.Leu154Val Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Leu20= Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Leu229Met Single submitter ⚠
- p.Leu23Pro Single submitter Inborn genetic diseases ⚠
- p.Leu245Val Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Lys218Asn Single submitter ⚠
- p.Lys317Glu Single submitter ⚠
- p.Lys56Asn Single submitter Inborn genetic diseases ⚠
- p.Lys56Gln Single submitter Inborn genetic diseases ⚠
- p.Lys56Glu Single submitter Inborn genetic diseases ⚠
- p.Lys56Thr Single submitter Inborn genetic diseases ⚠
- p.Lys76Gln Single submitter Inborn genetic diseases ⚠
- p.Met192Ile Single submitter Inborn genetic diseases ⚠
- p.Met1Arg Single submitter renal tubular acidosis, distal, 4, with hemolytic anemia
- p.Met1Thr Single submitter Inborn genetic diseases
- p.Met288Ile Single submitter ⚠
- p.Met341Thr Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Met381Thr Single submitter ⚠
- p.Met381Val Single submitter ⚠
- p.Phe374Ile Single submitter ⚠
- p.Pro115Leu Single submitter ⚠
- p.Pro223= Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1
- p.Pro223Leu Single submitter ⚠
- p.Pro249Leu Single submitter ⚠
- p.Pro258= Single submitter
- p.Pro267Leu Single submitter ⚠
- p.Pro270Ser Single submitter ⚠
- p.Pro275Leu Single submitter ⚠
- p.Pro287Ser Single submitter ⚠
- p.Pro292Ala Single submitter Inborn genetic diseases ⚠
- p.Pro307Leu Single submitter Inborn genetic diseases ⚠
- p.Pro323His Single submitter ⚠
- p.Pro325Arg Single submitter Inborn genetic diseases ⚠
- p.Pro331Ser Single submitter ⚠
- p.Pro371Ser Single submitter ⚠
- p.Pro39Leu Single submitter ⚠
- p.Pro406Gln Single submitter ⚠
- p.Pro58Leu Single submitter ⚠
- p.Pro97Ala Single submitter ⚠
- p.Pro97Ser Single submitter ⚠
- p.Ser19Arg Single submitter ⚠
- p.Ser19Asn Single submitter ⚠
- p.Ser241Ala Single submitter Inborn genetic diseases ⚠
- p.Ser260Pro Single submitter ⚠
- p.Ser334Ala Single submitter Hennekam lymphangiectasia-lymphedema syndrome 1 ⚠
- p.Ser376Gly Single submitter ⚠
- p.Ser7Arg Single submitter Inborn genetic diseases ⚠
- p.Thr103Lys Single submitter ⚠
- p.Thr153Ile Single submitter ⚠
- p.Thr201Ala Single submitter Inborn genetic diseases ⚠
- p.Thr201Ile Single submitter ⚠
- p.Thr211Ala Single submitter Inborn genetic diseases ⚠
- p.Thr350Ile Single submitter ⚠
- p.Trp33fs Single submitter CCBE1-related disorder
- p.Tyr131His Single submitter Inborn genetic diseases ⚠
- p.Tyr405Ser Single submitter ⚠
- p.Tyr70His Single submitter ⚠
- p.Val193Ala Single submitter ⚠
- p.Val212Met Single submitter ⚠
- p.Thr153Asn No assertion criteria CCBE1-related disorder ⚠
- p.Tyr405Cys No assertion criteria CCBE1-related disorder ⚠