CYLD — 426 ClinVar variants
All ClinVar germline CYLD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →
64 Pathogenic · 2 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 7 Conflicting · 62 Benign · 9 Benign/Likely benign · 51 Likely benign · 220 Uncertain significance
Full CYLD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 157
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CYLD p.Arg703Lys
Pathogenic
Single submitter
Brooke-Spiegler syndrome
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CYLD p.Ile20Ser
Conflicting
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ile391Thr
Conflicting
Single submitter
familial cylindromatosis
-
CYLD p.Met719Val
Conflicting
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Predictors lean, ClinVar uncertain 110
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CYLD p.Arg147Cys
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Arg53His
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Arg758Gln Uncertain significance Multiple submitters
-
CYLD p.Gly593Asp
Uncertain significance
Multiple submitters
familial cylindromatosis
-
CYLD p.Ile232Val
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ile588Thr
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ile70Val
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Leu212Ser
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Leu24Phe
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Thr389Arg
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ala217Thr
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ala339Val
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ala381Ser
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Ala381Val Uncertain significance Single submitter
-
CYLD p.Ala748Thr
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ala884Ser
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Arg156Lys
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Arg397His
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Arg53Cys
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Arg59Lys Uncertain significance Single submitter
-
CYLD p.Asn271Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Asn300Ser
Uncertain significance
Single submitter
CYLD-related disorder
-
CYLD p.Asn430Ser
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Asn574Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Asn628Asp
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Asn68Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Asn832Ser
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Asp221Glu Uncertain significance Single submitter
-
CYLD p.Asp277Asn
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Asp281Asn
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Asp394Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CYLD p.Asp618Val Uncertain significance Single submitter
-
CYLD p.Asp681His
Uncertain significance
Single submitter
familial cylindromatosis
-
CYLD p.Asp804Asn
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Asp846Glu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Asp882Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Asp889Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Asp893Gly
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Cys129Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Cys510Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CYLD p.Cys866Arg Uncertain significance Single submitter
-
CYLD p.Gln124His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Gln34Lys
Uncertain significance
Single submitter
familial cylindromatosis
-
CYLD p.Gln403Pro
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Gln857Leu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Gln8His Uncertain significance Single submitter
-
CYLD p.Glu226Lys
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Glu308Asp Uncertain significance Single submitter
-
CYLD p.Glu569Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Glu76Asp
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Glu911Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Gly674Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Gly852Ser
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.His417Tyr
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.His57Arg
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.His57Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CYLD p.His833Arg Uncertain significance Single submitter
-
CYLD p.Ile244Val
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ile299Val
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ile391Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Ile650Lys
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ile92Val
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Leu112Gln
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Leu204Pro
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Leu227Pro
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Leu319Arg
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Leu319Phe Uncertain significance Single submitter
-
CYLD p.Leu423Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- CYLD p.Leu640Pro Uncertain significance Single submitter
-
CYLD p.Leu781Pro
Uncertain significance
Single submitter
Brooke-Spiegler syndrome
-
CYLD p.Leu82Phe
Uncertain significance
Single submitter
familial cylindromatosis
-
CYLD p.Lys336Asn
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Lys33Arg
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Lys425Glu Uncertain significance Single submitter
-
CYLD p.Lys479Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CYLD p.Lys578Asn Uncertain significance Single submitter
-
CYLD p.Lys724Asn
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Lys812Glu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Lys95Arg
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Met426Leu
Uncertain significance
Single submitter
CYLD-related disorder
-
CYLD p.Met426Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Met719Thr
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Met952Leu Uncertain significance Single submitter
-
CYLD p.Pro14Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Pro229Ser
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Pro316Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Pro384Leu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Pro453Arg Uncertain significance Single submitter
-
CYLD p.Pro453Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Pro749Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Ser214Gly
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Ser398Ala Uncertain significance Single submitter
-
CYLD p.Ser809Leu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ser839Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Thr222Lys
Uncertain significance
Single submitter
familial cylindromatosis
-
CYLD p.Thr243Ala
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Thr340Ala Uncertain significance Single submitter
-
CYLD p.Thr343Ala
Uncertain significance
Single submitter
familial cylindromatosis
-
CYLD p.Thr374Ile
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Thr424Asn
Uncertain significance
Single submitter
familial cylindromatosis
-
CYLD p.Thr575Ile
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Thr822Ile
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Tyr797Phe Uncertain significance Single submitter
-
CYLD p.Val363Leu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Val478Ala
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Val81Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Val81Phe
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Val838Leu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Ala502Thr Uncertain significance No assertion criteria
-
CYLD p.Leu662Pro
Uncertain significance
No assertion criteria
CYLD-related disorder
Predictors split 43
The independent predictors disagree with each other — read with care.
-
CYLD p.Gly431Glu
Benign/Likely benign
Multiple submitters
trichoepithelioma, multiple familial, 1
-
CYLD p.Thr311Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CYLD p.Val645Ile
Uncertain significance
Multiple submitters
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ala102Val
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Ala546Glu Uncertain significance Single submitter
-
CYLD p.Ala562Pro
Uncertain significance
Single submitter
familial cylindromatosis
- CYLD p.Arg172Cys Benign Single submitter
-
CYLD p.Arg19Trp
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Arg929Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Asn821Ser
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Asp383Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- CYLD p.Asp85Val Uncertain significance Single submitter
-
CYLD p.Asp882Asn
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Cys513Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Gln174His
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Gln34Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Gln707Lys
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Gln948His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Glu203Ala
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Glu213Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CYLD p.Glu801Val Uncertain significance Single submitter
-
CYLD p.Glu860Gln
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Gly128Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Gly360Arg
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.His468Tyr
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ile161Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CYLD p.Leu826Phe Likely benign Single submitter
-
CYLD p.Lys141Gln
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Lys479Glu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Lys64Glu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Lys95Asn
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- CYLD p.Met587Thr Uncertain significance Single submitter
-
CYLD p.Phe113Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Pro42Leu
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Pro806Leu
Conflicting
Single submitter
Inborn genetic diseases
-
CYLD p.Pro828Ser
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Ser432Arg
Uncertain significance
Single submitter
Brooke-Spiegler syndrome
-
CYLD p.Ser444Cys
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Val197Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CYLD p.Val254Gly
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Val838Met
Uncertain significance
Single submitter
frontotemporal dementia and/or amyotrophic lateral sclerosis 8
-
CYLD p.Glu242Gly
Uncertain significance
No assertion criteria
CYLD-related disorder
-
CYLD p.Tyr797Cys
Likely benign
No assertion criteria
CYLD-related disorder
All CYLD variants
Pathogenic 64
- p.Arg758Ter Multiple submitters Brooke-Spiegler syndrome
- p.Asp277fs Multiple submitters familial cylindromatosis
- p.Cys513fs Multiple submitters Brooke-Spiegler syndrome
- p.Lys764fs Multiple submitters Brooke-Spiegler syndrome
- p.Lys767Ter Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- p.Ser371Ter Multiple submitters Brooke-Spiegler syndrome
- c.1950-2_1953del Single submitter familial cylindromatosis
- c.2108+2T>C Single submitter Multiple monogenic benign skin tumours
- c.2215_2241+289del Single submitter
- c.2241+5G>A Single submitter familial cylindromatosis
- c.2242-2A>G Single submitter familial cylindromatosis
- c.2350+1G>T Single submitter familial cylindromatosis
- c.2469+1G>A Single submitter familial cylindromatosis
- p.Ala305fs Single submitter familial cylindromatosis
- p.Arg235Ter Single submitter
- p.Arg703Lys Single submitter Brooke-Spiegler syndrome ⚠
- p.Asn553fs Single submitter familial cylindromatosis
- p.Asp762_Phe763insTer Single submitter
- p.Asp762fs Single submitter Multiple monogenic benign skin tumours
- p.Cys751fs Single submitter
- p.Cys791Ter Single submitter
- p.Cys802_Tyr803delinsTer Single submitter familial cylindromatosis
- p.Gln443Ter Single submitter familial cylindromatosis
- p.Gln455Ter Single submitter familial cylindromatosis
- p.Gln493Ter Single submitter
- p.Gln554Ter Single submitter
- p.Gln707Ter Single submitter
- p.Gln755Ter Single submitter CYLD-related disorder
- p.Gln857Ter Single submitter familial cylindromatosis
- p.Gln905Ter Single submitter
- p.Glu720fs Single submitter
- p.Gly330fs Single submitter familial cylindromatosis
- p.Ile644fs Single submitter
- p.Leu297fs Single submitter
- p.Leu419Ter Single submitter
- p.Leu561fs Single submitter
- p.Lys591Ter Single submitter familial cylindromatosis
- p.Lys592Ter Single submitter
- p.Lys664Ter Single submitter Multiple monogenic benign skin tumours
- p.Lys680Arg Single submitter familial cylindromatosis
- p.Lys829fs Single submitter Multiple monogenic benign skin tumours
- p.Met796_Tyr797insTer Single submitter familial cylindromatosis
- p.Phe321fs Single submitter
- p.Phe714fs Single submitter Brooke-Spiegler syndrome
- p.Phe766fs Single submitter
- p.Ser323fs Single submitter Brooke-Spiegler syndrome
- p.Ser365Ter Single submitter
- p.Ser614fs Single submitter
- p.Ser839fs Single submitter familial cylindromatosis
- p.Ser839Ter Single submitter
- p.Thr389fs Single submitter Multiple monogenic benign skin tumours
- p.Thr619fs Single submitter
- p.Trp490Ter Single submitter
- p.Trp847Ter Single submitter
- p.Tyr376fs Single submitter
- p.Tyr632Ter Single submitter
- p.Val534fs Single submitter Brooke-Spiegler syndrome
- c.1826+2T>G No assertion criteria familial multiple trichoepithelioma
- c.1950-1_1952del No assertion criteria familial cylindromatosis
- p.Gln188fs No assertion criteria familial cylindromatosis
- p.Glu747fs No assertion criteria familial multiple trichoepithelioma
- p.Glu747Gly No assertion criteria familial multiple trichoepithelioma
- p.Gly465fs No assertion criteria Brooke-Spiegler syndrome
- p.Val725fs No assertion criteria Brooke-Spiegler syndrome
Pathogenic/Likely pathogenic 2
- p.Arg936Ter Multiple submitters familial cylindromatosis
- p.Ser371fs Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Likely pathogenic 11
- c.1684+1G>A Single submitter
- c.1684+2T>C Single submitter
- c.1950-2A>T Single submitter
- c.808-2A>C Single submitter
- p.Cys909fs Single submitter Brooke-Spiegler syndrome
- p.Gly596Asp Single submitter hereditary neoplastic syndrome
- p.His871_Tyr872insTer Single submitter Brooke-Spiegler syndrome
- p.Leu152fs Single submitter
- p.Thr819fs Single submitter Brooke-Spiegler syndrome
- p.Asp681fs No assertion criteria plasma cell myeloma
- p.Lys761fs No assertion criteria CYLD-related disorder
Conflicting classifications of pathogenicity 7
- c.*3148T>C Single submitter familial multiple trichoepithelioma
- c.*779G>A Single submitter familial multiple trichoepithelioma
- p.Ile20Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ile391Thr Single submitter familial cylindromatosis ⚠
- p.Met719Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Pro806Leu Single submitter Inborn genetic diseases ⚠
- p.Tyr715= Single submitter familial multiple trichoepithelioma
Benign 62
- c.1138+112G>A Multiple submitters
- c.1518+42G>A Multiple submitters
- c.1684+110C>T Multiple submitters
- c.1826+283C>T Multiple submitters
- c.1827-308A>G Multiple submitters
- c.2041+110G>A Multiple submitters
- c.2109-10G>A Multiple submitters Brooke-Spiegler syndrome
- c.2241+41T>A Multiple submitters
- c.2242-46G>T Multiple submitters
- c.2469+10C>T Multiple submitters familial cylindromatosis
- c.2469+26A>G Multiple submitters familial cylindromatosis
- c.913+5G>T Multiple submitters familial multiple trichoepithelioma
- c.-123-59A>G Multiple submitters
- c.-204+132C>T Multiple submitters
- c.*139G>A Multiple submitters familial multiple trichoepithelioma
- c.*2335T>C Multiple submitters familial multiple trichoepithelioma
- c.*3469T>C Multiple submitters Brooke-Spiegler syndrome
- c.*4561G>A Multiple submitters familial multiple trichoepithelioma
- c.*837A>G Multiple submitters familial multiple trichoepithelioma
- c.*841G>A Multiple submitters familial multiple trichoepithelioma
- p.Asp804= Multiple submitters trichoepithelioma, multiple familial, 1
- p.Gln455= Multiple submitters
- p.Leu938= Multiple submitters
- c.1022-229G>A Single submitter
- c.1022-264T>A Single submitter
- c.1139-424T>C Single submitter
- c.1519-286A>T Single submitter
- c.1685-115A>C Single submitter
- c.1685-86A>G Single submitter
- c.1826+60GT[9] Single submitter
- c.1950-82dup Single submitter
- c.2350+326G>A Single submitter
- c.2351-240A>G Single submitter
- c.2470-273dup Single submitter
- c.2686+201_2686+202dup Single submitter
- c.2686+202dup Single submitter
- c.807+98_807+111del Single submitter
- c.914-161A>G Single submitter
- c.922+9C>A Single submitter familial cylindromatosis
- c.923-188C>G Single submitter
- c.*1341T>G Single submitter Brooke-Spiegler syndrome
- c.*1831G>A Single submitter familial multiple trichoepithelioma
- c.*2150A>G Single submitter familial multiple trichoepithelioma
- c.*2236C>T Single submitter familial multiple trichoepithelioma
- c.*2369G>A Single submitter familial multiple trichoepithelioma
- c.*2615A>G Single submitter familial multiple trichoepithelioma
- c.*2646G>A Single submitter familial multiple trichoepithelioma
- c.*2710C>T Single submitter familial multiple trichoepithelioma
- c.*3070A>G Single submitter familial multiple trichoepithelioma
- c.*3614C>A Single submitter familial multiple trichoepithelioma
- c.*3679T>C Single submitter familial multiple trichoepithelioma
- c.*3739C>G Single submitter Brooke-Spiegler syndrome
- c.*382T>C Single submitter familial multiple trichoepithelioma
- c.*4567C>T Single submitter familial multiple trichoepithelioma
- c.*47G>A Single submitter familial multiple trichoepithelioma
- c.*5086A>G Single submitter Brooke-Spiegler syndrome
- c.*5272C>T Single submitter Brooke-Spiegler syndrome
- c.*698T>G Single submitter familial multiple trichoepithelioma
- c.*831C>T Single submitter familial multiple trichoepithelioma
- p.Arg172Cys Single submitter ⚠
- p.Arg397Ser Single submitter ovarian cancer
- p.Asn335Ser Single submitter ovarian cancer
Benign/Likely benign 9
- c.*1575G>A Multiple submitters familial multiple trichoepithelioma
- c.*1590T>C Multiple submitters Brooke-Spiegler syndrome
- c.*3736G>A Multiple submitters familial cylindromatosis
- p.Ala452= Multiple submitters
- p.Gly431Glu Multiple submitters trichoepithelioma, multiple familial, 1 ⚠
- p.Ile491= Multiple submitters trichoepithelioma, multiple familial, 1
- p.Leu773= Multiple submitters familial cylindromatosis
- p.Pro42= Multiple submitters familial cylindromatosis
- p.Ser29= Multiple submitters
Likely benign 51
- c.913+31G>A Multiple submitters
- c.1139-365G>A Single submitter
- c.1518+74C>G Single submitter
- c.1684+11G>C Single submitter
- c.2042-21_2042-18del Single submitter
- c.2042-50G>A Single submitter
- c.2108+51T>C Single submitter
- c.2109-11C>T Single submitter
- c.2350+20A>T Single submitter
- c.2469+234T>C Single submitter
- c.2469+274_2470-273dup Single submitter
- c.2687-225T>C Single submitter
- c.505-159A>G Single submitter
- c.807+169C>G Single submitter
- c.808-8A>G Single submitter
- c.*3119del Single submitter
- p.Ala795= Single submitter
- p.Asp178= Single submitter
- p.Asp882= Single submitter
- p.Cys655= Single submitter
- p.Gln403= Single submitter
- p.Gln716= Single submitter
- p.Glu259= Single submitter
- p.Gly194= Single submitter
- p.Gly486= Single submitter
- p.Gly589= Single submitter
- p.His298= Single submitter
- p.Leu199= Single submitter
- p.Leu296= Single submitter
- p.Leu297= Single submitter
- p.Leu640= Single submitter
- p.Leu689= Single submitter
- p.Leu765= Single submitter
- p.Leu826Phe Single submitter ⚠
- p.Lys370= Single submitter
- p.Pro437= Single submitter
- p.Pro806= Single submitter
- p.Ser543= Single submitter
- p.Thr357= Single submitter
- p.Thr412= Single submitter
- p.Tyr216= Single submitter
- p.Tyr22= Single submitter
- p.Val570= Single submitter
- c.1139-3dup No assertion criteria CYLD-related disorder
- p.Ala289= No assertion criteria CYLD-related disorder
- p.Asp126= No assertion criteria CYLD-related disorder
- p.His825= No assertion criteria CYLD-related disorder
- p.His851= No assertion criteria CYLD-related disorder
- p.Leu135= No assertion criteria CYLD-related disorder
- p.Leu780= No assertion criteria CYLD-related disorder
- p.Tyr797Cys No assertion criteria CYLD-related disorder ⚠
Uncertain significance 220
- c.1950-5_1950-2del Multiple submitters familial multiple trichoepithelioma
- c.*3229C>T Multiple submitters Brooke-Spiegler syndrome
- p.Arg147Cys Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Arg53His Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Arg758Gln Multiple submitters ⚠
- p.Gly593Asp Multiple submitters familial cylindromatosis ⚠
- p.Ile232Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ile588Thr Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ile70Val Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Leu212Ser Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Leu24Phe Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Thr311Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr389Arg Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Val645Ile Multiple submitters frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- c.1519-9_1519-6del Single submitter
- c.1684+3A>C Single submitter familial cylindromatosis
- c.1827-3C>A Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- c.1949+5G>A Single submitter
- c.2350+4A>G Single submitter
- c.913+5769A>G Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8
- c.-124+1988A>G Single submitter Brooke-Spiegler syndrome
- c.-215C>G Single submitter familial multiple trichoepithelioma
- c.-229G>C Single submitter Brooke-Spiegler syndrome
- c.-23A>C Single submitter familial cylindromatosis
- c.-414T>C Single submitter familial cylindromatosis
- c.*1033T>A Single submitter familial multiple trichoepithelioma
- c.*1034C>A Single submitter familial multiple trichoepithelioma
- c.*1102G>A Single submitter familial multiple trichoepithelioma
- c.*1191C>G Single submitter familial multiple trichoepithelioma
- c.*1191C>T Single submitter familial multiple trichoepithelioma
- c.*1245T>C Single submitter familial multiple trichoepithelioma
- c.*1308A>G Single submitter familial multiple trichoepithelioma
- c.*1651G>A Single submitter Brooke-Spiegler syndrome
- c.*1667G>T Single submitter Brooke-Spiegler syndrome
- c.*1727T>C Single submitter Brooke-Spiegler syndrome
- c.*1746C>T Single submitter familial multiple trichoepithelioma
- c.*1810A>T Single submitter familial multiple trichoepithelioma
- c.*1983T>C Single submitter familial multiple trichoepithelioma
- c.*2026G>A Single submitter familial cylindromatosis
- c.*206A>C Single submitter familial multiple trichoepithelioma
- c.*2113A>G Single submitter familial cylindromatosis
- c.*2147T>G Single submitter familial cylindromatosis
- c.*2305A>T Single submitter familial multiple trichoepithelioma
- c.*2424C>T Single submitter familial cylindromatosis
- c.*2438G>A Single submitter familial multiple trichoepithelioma
- c.*2521G>A Single submitter familial multiple trichoepithelioma
- c.*2556A>G Single submitter familial multiple trichoepithelioma
- c.*280A>G Single submitter familial multiple trichoepithelioma
- c.*2848A>G Single submitter familial multiple trichoepithelioma
- c.*2856T>C Single submitter familial multiple trichoepithelioma
- c.*2975C>T Single submitter familial multiple trichoepithelioma
- c.*29T>C Single submitter familial cylindromatosis
- c.*3000C>G Single submitter familial multiple trichoepithelioma
- c.*3151T>G Single submitter familial multiple trichoepithelioma
- c.*3305A>G Single submitter familial multiple trichoepithelioma
- c.*3384G>A Single submitter familial multiple trichoepithelioma
- c.*3462A>G Single submitter familial multiple trichoepithelioma
- c.*3589C>T Single submitter familial multiple trichoepithelioma
- c.*3722T>G Single submitter familial cylindromatosis
- c.*3731C>T Single submitter familial multiple trichoepithelioma
- c.*3851T>C Single submitter familial cylindromatosis
- c.*3865C>T Single submitter familial multiple trichoepithelioma
- c.*403T>C Single submitter familial multiple trichoepithelioma
- c.*4388C>T Single submitter Brooke-Spiegler syndrome
- c.*4470C>A Single submitter Brooke-Spiegler syndrome
- c.*4485G>C Single submitter familial multiple trichoepithelioma
- c.*4494G>A Single submitter familial multiple trichoepithelioma
- c.*4514C>G Single submitter familial cylindromatosis
- c.*4530G>T Single submitter familial cylindromatosis
- c.*468A>C Single submitter familial multiple trichoepithelioma
- c.*4691A>G Single submitter familial multiple trichoepithelioma
- c.*4702C>T Single submitter familial multiple trichoepithelioma
- c.*4841G>A Single submitter familial multiple trichoepithelioma
- c.*4885A>T Single submitter familial multiple trichoepithelioma
- c.*4947G>A Single submitter Brooke-Spiegler syndrome
- c.*5060G>T Single submitter familial cylindromatosis
- c.*5327C>A Single submitter familial cylindromatosis
- c.*5384A>G Single submitter Brooke-Spiegler syndrome
- c.*59T>C Single submitter familial multiple trichoepithelioma
- p.Ala102Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ala217Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ala339Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ala381Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ala381Val Single submitter ⚠
- p.Ala546Glu Single submitter ⚠
- p.Ala562Pro Single submitter familial cylindromatosis ⚠
- p.Ala748Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ala863= Single submitter familial multiple trichoepithelioma
- p.Ala884Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Arg156Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Arg19Trp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Arg397His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Arg53Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Arg59Lys Single submitter ⚠
- p.Arg929Thr Single submitter Inborn genetic diseases ⚠
- p.Asn271Lys Single submitter Inborn genetic diseases ⚠
- p.Asn300Ser Single submitter CYLD-related disorder ⚠
- p.Asn430Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Asn574Ser Single submitter Inborn genetic diseases ⚠
- p.Asn628Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Asn68Lys Single submitter Inborn genetic diseases ⚠
- p.Asn821Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Asn832Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Asp221Glu Single submitter ⚠
- p.Asp277Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Asp281Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Asp383Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp394Gly Single submitter Inborn genetic diseases ⚠
- p.Asp618Val Single submitter ⚠
- p.Asp681His Single submitter familial cylindromatosis ⚠
- p.Asp804Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Asp846Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Asp85Val Single submitter ⚠
- p.Asp882Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Asp882Glu Single submitter Inborn genetic diseases ⚠
- p.Asp889Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp893Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Cys129Ser Single submitter Inborn genetic diseases ⚠
- p.Cys510Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys513Ser Single submitter Inborn genetic diseases ⚠
- p.Cys866Arg Single submitter ⚠
- p.Gln124His Single submitter Inborn genetic diseases ⚠
- p.Gln174His Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Gln34Lys Single submitter familial cylindromatosis ⚠
- p.Gln34Pro Single submitter Inborn genetic diseases ⚠
- p.Gln403Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Gln707Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Gln857Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Gln8His Single submitter ⚠
- p.Gln948His Single submitter Inborn genetic diseases ⚠
- p.Glu203Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Glu213Lys Single submitter Inborn genetic diseases ⚠
- p.Glu226Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Glu308Asp Single submitter ⚠
- p.Glu569Lys Single submitter Inborn genetic diseases ⚠
- p.Glu747= Single submitter
- p.Glu76Asp Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Glu801Val Single submitter ⚠
- p.Glu860Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Glu911Gly Single submitter Inborn genetic diseases ⚠
- p.Gly128Ser Single submitter Inborn genetic diseases ⚠
- p.Gly360Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Gly674Arg Single submitter Inborn genetic diseases ⚠
- p.Gly852Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.His417Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.His468Tyr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.His57Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.His57Asn Single submitter Inborn genetic diseases ⚠
- p.His833Arg Single submitter ⚠
- p.Ile161Thr Single submitter Inborn genetic diseases ⚠
- p.Ile244Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ile299Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ile391Val Single submitter Inborn genetic diseases ⚠
- p.Ile650Lys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ile92Val Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Leu112Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Leu204Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Leu227Pro Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Leu319Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Leu319Phe Single submitter ⚠
- p.Leu423Phe Single submitter Inborn genetic diseases ⚠
- p.Leu501= Single submitter familial multiple trichoepithelioma
- p.Leu640Pro Single submitter ⚠
- p.Leu781Pro Single submitter Brooke-Spiegler syndrome ⚠
- p.Leu82Phe Single submitter familial cylindromatosis ⚠
- p.Lys141Gln Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Lys336Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Lys33Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Lys425Glu Single submitter ⚠
- p.Lys479Arg Single submitter Inborn genetic diseases ⚠
- p.Lys479Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Lys578Asn Single submitter ⚠
- p.Lys64Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Lys724Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Lys812Glu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Lys95Arg Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Lys95Asn Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Met426Leu Single submitter CYLD-related disorder ⚠
- p.Met426Thr Single submitter Inborn genetic diseases ⚠
- p.Met587Thr Single submitter ⚠
- p.Met719Thr Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Met952Leu Single submitter ⚠
- p.Phe113Cys Single submitter Inborn genetic diseases ⚠
- p.Pro14Ser Single submitter Inborn genetic diseases ⚠
- p.Pro229Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Pro316Ser Single submitter Inborn genetic diseases ⚠
- p.Pro384Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Pro42Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Pro453Arg Single submitter ⚠
- p.Pro453Thr Single submitter Inborn genetic diseases ⚠
- p.Pro749Leu Single submitter Inborn genetic diseases ⚠
- p.Pro828Ser Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ser214Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ser398Ala Single submitter ⚠
- p.Ser432Arg Single submitter Brooke-Spiegler syndrome ⚠
- p.Ser444Cys Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ser809Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Ser839Leu Single submitter Inborn genetic diseases ⚠
- p.Thr222Lys Single submitter familial cylindromatosis ⚠
- p.Thr243Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Thr340Ala Single submitter ⚠
- p.Thr343Ala Single submitter familial cylindromatosis ⚠
- p.Thr374Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Thr424Asn Single submitter familial cylindromatosis ⚠
- p.Thr575Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Thr822Ile Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Tyr181= Single submitter familial cylindromatosis
- p.Tyr797Phe Single submitter ⚠
- p.Val197Leu Single submitter Inborn genetic diseases ⚠
- p.Val254Gly Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Val363Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Val478Ala Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Val81Ile Single submitter Inborn genetic diseases ⚠
- p.Val81Phe Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Val838Leu Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- p.Val838Met Single submitter frontotemporal dementia and/or amyotrophic lateral sclerosis 8 ⚠
- c.505-8A>G No assertion criteria
- p.Ala502Thr No assertion criteria ⚠
- p.Glu242Gly No assertion criteria CYLD-related disorder ⚠
- p.Leu662Pro No assertion criteria CYLD-related disorder ⚠