CYBC1 — 184 ClinVar variants
All ClinVar germline CYBC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 3 Conflicting · 14 Benign · 8 Benign/Likely benign · 94 Likely benign · 60 Uncertain significance
Full CYBC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYBC1 p.Arg147Cys Uncertain significance Multiple submitters
- CYBC1 p.Asp98Asn Uncertain significance Multiple submitters
-
CYBC1 p.Ala152Thr
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, 5
- CYBC1 p.Arg12His Uncertain significance Single submitter
- CYBC1 p.Arg147His Uncertain significance Single submitter
- CYBC1 p.Asp177Asn Uncertain significance Single submitter
- CYBC1 p.Asp72Asn Uncertain significance Single submitter
- CYBC1 p.Cys165Phe Uncertain significance Single submitter
- CYBC1 p.Glu114Lys Uncertain significance Single submitter
- CYBC1 p.Glu167Ala Uncertain significance Single submitter
-
CYBC1 p.Gly121Arg
Uncertain significance
Single submitter
granulomatous disease, chronic, autosomal recessive, 5
- CYBC1 p.Gly181Ser Uncertain significance Single submitter
- CYBC1 p.Gly42Arg Uncertain significance Single submitter
- CYBC1 p.Gly54Asp Uncertain significance Single submitter
- CYBC1 p.His164Tyr Uncertain significance Single submitter
- CYBC1 p.His97Tyr Uncertain significance Single submitter
- CYBC1 p.Ile33Thr Uncertain significance Single submitter
- CYBC1 p.Leu138Val Uncertain significance Single submitter
- CYBC1 p.Leu45Pro Uncertain significance Single submitter
- CYBC1 p.Lys155Arg Uncertain significance Single submitter
- CYBC1 p.Lys48Thr Uncertain significance Single submitter
- CYBC1 p.Ser10Thr Uncertain significance Single submitter
- CYBC1 p.Ser141Asn Uncertain significance Single submitter
- CYBC1 p.Ser168Thr Uncertain significance Single submitter
- CYBC1 p.Ser23Phe Uncertain significance Single submitter
- CYBC1 p.Ser74Asn Uncertain significance Single submitter
- CYBC1 p.Ser84Gly Uncertain significance Single submitter
- CYBC1 p.Thr170Ile Uncertain significance Single submitter
- CYBC1 p.Thr75Ile Uncertain significance Single submitter
- CYBC1 p.Trp24Gly Uncertain significance Single submitter
- CYBC1 p.Val101Ala Uncertain significance Single submitter
- CYBC1 p.Val107Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
-
CYBC1 p.Asp43Asn
Uncertain significance
Multiple submitters
granulomatous disease, chronic, autosomal recessive, 5
- CYBC1 p.Thr82Met Uncertain significance Multiple submitters
- CYBC1 p.Arg118Gln Uncertain significance Single submitter
- CYBC1 p.Arg118Trp Uncertain significance Single submitter
- CYBC1 p.Gln61Lys Uncertain significance Single submitter
- CYBC1 p.Gly145Arg Uncertain significance Single submitter
- CYBC1 p.Lys48Asn Uncertain significance Single submitter
- CYBC1 p.Lys81Glu Uncertain significance Single submitter
- CYBC1 p.Ser32Leu Uncertain significance Single submitter
- CYBC1 p.Thr132Met Uncertain significance Single submitter
- CYBC1 p.Thr139Ala Uncertain significance Single submitter
- CYBC1 p.Thr139Met Uncertain significance Single submitter
- CYBC1 p.Thr91Ala Uncertain significance Single submitter
- CYBC1 p.Tyr119Asp Uncertain significance Single submitter
- CYBC1 p.Val126Met Uncertain significance Single submitter
All CYBC1 variants
Pathogenic 3
Likely pathogenic 2
- c.201+1G>A Single submitter
- c.202-2A>C Single submitter
Conflicting classifications of pathogenicity 3
- c.298+8G>A Single submitter
- c.444-1G>C Single submitter granulomatous disease, chronic, autosomal recessive, 5
- p.Ala131Val Single submitter ⚠
Benign 14
- c.128-150G>T Multiple submitters
- c.201+173C>A Multiple submitters
- c.201+19C>T Multiple submitters
- c.202-115G>A Multiple submitters
- c.202-58C>T Multiple submitters
- c.299-23G>A Multiple submitters
- c.443+27C>T Multiple submitters
- c.444-154G>T Multiple submitters
- c.444-41C>T Multiple submitters
- c.444-45A>G Multiple submitters
- c.86-55A>G Multiple submitters
- c.*230G>A Multiple submitters
- p.Val52Ile Multiple submitters
- c.127+14dup Single submitter
Benign/Likely benign 8
- c.127+13C>A Multiple submitters
- c.127+14del Multiple submitters
- c.201+13C>G Multiple submitters
- c.444-6G>A Multiple submitters
- p.His97= Multiple submitters
- p.Leu166= Multiple submitters
- p.Leu49Phe Multiple submitters
- p.Phe120= Multiple submitters
Likely benign 94
- c.127+16C>T Multiple submitters
- c.201+14G>A Multiple submitters
- c.201+9G>A Multiple submitters
- c.444-19C>T Multiple submitters
- p.Ala180= Multiple submitters
- p.Arg22= Multiple submitters
- p.Asn62Asp Multiple submitters
- p.Leu128= Multiple submitters
- c.127+12C>G Single submitter
- c.127+12C>T Single submitter
- c.127+14C>T Single submitter
- c.127+15G>T Single submitter
- c.127+9C>T Single submitter
- c.128-16C>T Single submitter
- c.128-18C>T Single submitter
- c.128-19G>A Single submitter
- c.128-19G>C Single submitter
- c.128-19G>T Single submitter
- c.128-20C>T Single submitter
- c.201+13C>T Single submitter
- c.201+14G>T Single submitter
- c.201+16G>T Single submitter
- c.201+17T>C Single submitter
- c.201+20G>A Single submitter
- c.201+20G>C Single submitter
- c.201+8C>T Single submitter
- c.202-12G>A Single submitter
- c.202-12G>T Single submitter
- c.202-13T>C Single submitter
- c.202-14A>C Single submitter
- c.298+11G>A Single submitter
- c.298+15_298+23del Single submitter
- c.298+15G>C Single submitter
- c.298+17G>A Single submitter
- c.298+18T>G Single submitter
- c.298+7C>A Single submitter
- c.298+7C>T Single submitter
- c.299-12G>A Single submitter
- c.299-13C>G Single submitter
- c.299-13C>T Single submitter
- c.299-17T>C Single submitter
- c.299-5C>T Single submitter
- c.299-8C>T Single submitter
- c.443+15C>T Single submitter
- c.444-11G>A Single submitter
- c.444-13C>T Single submitter
- c.444-14C>T Single submitter
- c.444-18G>A Single submitter
- c.85+14C>T Single submitter
- c.86-10C>G Single submitter
- c.86-20C>T Single submitter
- c.86-4A>G Single submitter
- c.-4C>A Single submitter
- c.*266G>A Single submitter
- p.Ala152= Single submitter
- p.Ala69= Single submitter
- p.Arg12= Single submitter
- p.Asp106= Single submitter
- p.Asp109= Single submitter
- p.Asp65= Single submitter
- p.Asp98= Single submitter
- p.Gln174= Single submitter
- p.Glu114= Single submitter
- p.Glu171= Single submitter
- p.Glu64= Single submitter
- p.Gly123= Single submitter
- p.Gly34= Single submitter
- p.His136= Single submitter
- p.Ile153= Single submitter
- p.Ile157= Single submitter
- p.Ile157Val Single submitter
- p.Leu156= Single submitter
- p.Leu172= Single submitter
- p.Leu26= Single submitter
- p.Leu45= Single submitter
- p.Leu89= Single submitter
- p.Leu92= Single submitter
- p.Lys116= Single submitter
- p.Lys77= Single submitter
- p.Phe71= Single submitter
- p.Phe83= Single submitter
- p.Pro137= Single submitter
- p.Ser176= Single submitter
- p.Ser41= Single submitter
- p.Thr132= Single submitter
- p.Thr139= Single submitter
- p.Thr53= Single submitter
- p.Thr7= Single submitter
- p.Thr82= Single submitter
- p.Tyr119= Single submitter
- p.Tyr51= Single submitter
- p.Tyr86= Single submitter
- p.Val110= Single submitter
- p.Val78= Single submitter
Uncertain significance 60
- p.Arg129Trp Multiple submitters
- p.Arg147Cys Multiple submitters ⚠
- p.Asp43Asn Multiple submitters granulomatous disease, chronic, autosomal recessive, 5 ⚠
- p.Asp98Asn Multiple submitters ⚠
- p.Thr82Met Multiple submitters ⚠
- c.299-3C>T Single submitter
- c.444-12G>A Single submitter
- c.444-20_444-19delinsTA Single submitter
- c.85+5G>C Single submitter
- p.Ala152Thr Single submitter granulomatous disease, chronic, autosomal recessive, 5 ⚠
- p.Arg118Gln Single submitter ⚠
- p.Arg118Trp Single submitter ⚠
- p.Arg12His Single submitter ⚠
- p.Arg147His Single submitter ⚠
- p.Arg22Gln Single submitter
- p.Arg22Trp Single submitter
- p.Asp177Asn Single submitter ⚠
- p.Asp72Asn Single submitter ⚠
- p.Cys165Phe Single submitter ⚠
- p.Gln140Lys Single submitter
- p.Gln61Lys Single submitter ⚠
- p.Glu114Lys Single submitter ⚠
- p.Glu167Ala Single submitter ⚠
- p.Gly121Arg Single submitter granulomatous disease, chronic, autosomal recessive, 5 ⚠
- p.Gly123fs Single submitter
- p.Gly145Arg Single submitter ⚠
- p.Gly181Ser Single submitter ⚠
- p.Gly42Arg Single submitter ⚠
- p.Gly54Asp Single submitter ⚠
- p.His164Tyr Single submitter ⚠
- p.His97Tyr Single submitter ⚠
- p.Ile33Thr Single submitter ⚠
- p.Leu138Val Single submitter ⚠
- p.Leu45Pro Single submitter ⚠
- p.Lys155= Single submitter
- p.Lys155Arg Single submitter ⚠
- p.Lys48Asn Single submitter ⚠
- p.Lys48Thr Single submitter ⚠
- p.Lys81Glu Single submitter ⚠
- p.Met125fs Single submitter
- p.Met1Ile Single submitter
- p.Ser10Thr Single submitter ⚠
- p.Ser141Asn Single submitter ⚠
- p.Ser168Thr Single submitter ⚠
- p.Ser23Phe Single submitter ⚠
- p.Ser32Leu Single submitter ⚠
- p.Ser74Asn Single submitter ⚠
- p.Ser84Gly Single submitter ⚠
- p.Ter188Gly Single submitter
- p.Thr132Met Single submitter ⚠
- p.Thr139Ala Single submitter ⚠
- p.Thr139Met Single submitter ⚠
- p.Thr170Ile Single submitter ⚠
- p.Thr75Ile Single submitter ⚠
- p.Thr91Ala Single submitter ⚠
- p.Trp24Gly Single submitter ⚠
- p.Tyr119Asp Single submitter ⚠
- p.Val101Ala Single submitter ⚠
- p.Val107Ile Single submitter ⚠
- p.Val126Met Single submitter ⚠