Total 21 pathogenic variants reported for Brooke-Spiegler syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001378743.1(CYLD):c.2272C>T (p.Arg758Ter) SNV
Germline		 Chr16:50792627 Pathogenic Familial cylindromatosis
not specified
Condition: not provided
Brooke-Spiegler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA158237 rs_121908388

5 SubmittersRCV000005565RCV000120624RCV002281697RCV005234779
NM_001378743.1(CYLD):c.2240A>G (p.Glu747Gly) SNV
Germline		 Chr16:50791689 Pathogenic Familial multiple trichoepitheliomata
Brooke-Spiegler syndrome		 No Assertion Criteria Provided
 CA214926 rs_121908389

1 SubmittersRCV000005571RCV000005572
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter) SNV
Germline		 Chr16:50796443 Pathogenic/Likely pathogenic Brooke-Spiegler syndrome
Familial cylindromatosis
Familial multiple trichoepitheliomata
Trichoepithelioma, multiple familial, 1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Familial cylindromatosis
Brooke-Spiegler syndrome
Condition: not provided
Multiple monogenic benign skin tumours		 Criteria Provided
Multiple Submitters
No Conflicts
 CA214928 rs_121908390

6 SubmittersRCV000005575RCV000005573RCV000005574RCV002496269RCV005089180RCV006268069
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter) SNV
Germline		 Chr16:50777915 Pathogenic Familial cylindromatosis
Condition: not provided
Trichoepithelioma, multiple familial, 1
Familial cylindromatosis
Brooke-Spiegler syndrome
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
Trichoepithelioma, multiple familial, 1
Familial cylindromatosis
Brooke-Spiegler syndrome
Multiple monogenic benign skin tumours
Brooke-Spiegler syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10590069 rs_886040872

8 SubmittersRCV000257976RCV000760471RCV001814137RCV003469207RCV005016661RCV006456915RCV006554511
NM_001378743.1(CYLD):c.2108G>A (p.Arg703Lys) SNV
Germline		 Chr16:50787852 Pathogenic Brooke-Spiegler syndrome Criteria Provided
Single Submitter
 CA10590082 rs_886040884

1 SubmittersRCV000257955
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter) SNV
Germline		 Chr16:50792654 Pathogenic Familial cylindromatosis
Brooke-Spiegler syndrome
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8
SLC35A2-congenital disorder of glycosylation
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10590086 rs_886040888

5 SubmittersRCV000257977RCV002466483RCV003469208RCV005861098RCV006462287
NM_001378743.1(CYLD):c.1172T>C (p.Ile391Thr) SNV
Germline		 Chr16:50779698 Conflicting classifications of pathogenicity Familial cylindromatosis
Brooke-Spiegler syndrome
Familial multiple trichoepitheliomata
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8052356 rs_138976689

2 SubmittersRCV000293720RCV000348615RCV000388023RCV005055876
NM_001378743.1(CYLD):c.59T>G (p.Ile20Ser) SNV
Germline		 Chr16:50749757 Conflicting classifications of pathogenicity Brooke-Spiegler syndrome
Familial multiple trichoepitheliomata
Familial cylindromatosis
Condition: not provided
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8		 Criteria Provided
Conflicting Classifications
 CA8052119 rs_764097337

3 SubmittersRCV000311859RCV000370163RCV000404707RCV002264928RCV003469254
NM_001378743.1(CYLD):c.2145T>C (p.Tyr715=) SNV
Germline		 Chr16:50791594 Conflicting classifications of pathogenicity Familial cylindromatosis
Familial multiple trichoepitheliomata
Brooke-Spiegler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA8052561 rs_200905032

2 SubmittersRCV000275842RCV000333288RCV000385516RCV006555833
NM_001378743.1(CYLD):c.*779G>A SNV
Germline		 Chr16:50797287 Conflicting classifications of pathogenicity Familial cylindromatosis
Brooke-Spiegler syndrome
Familial multiple trichoepitheliomata
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10648504 rs_190787930

2 SubmittersRCV000278284RCV000336608RCV000407966RCV003418001
NM_001378743.1(CYLD):c.*3148T>C SNV
Germline		 Chr16:50799656 Conflicting classifications of pathogenicity Familial multiple trichoepitheliomata
Familial cylindromatosis
Brooke-Spiegler syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10648525 rs_555603514

2 SubmittersRCV000288251RCV000347858RCV000383728RCV003422268