Total 19 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.2240A>G (p.Glu747Gly)	SNV Germline	Chr16:50791689	Pathogenic	Brooke-Spiegler syndrome Familial multiple trichoepitheliomata	No Assertion Criteria Provided	CA214926	rs_121908389	1 SubmittersRCV000005572 RCV000005571
NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)	SNV Germline	Chr16:50796443	Pathogenic	Brooke-Spiegler syndrome Familial multiple trichoepitheliomata Familial cylindromatosis Trichoepithelioma, multiple familial, 1 Familial cylindromatosis Brooke-Spiegler syndrome Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Criteria Provided Multiple Submitters No Conflicts	CA214928	rs_121908390	3 SubmittersRCV000005575 RCV000005574 RCV000005573 RCV002496269
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)	SNV Germline	Chr16:50777915	Pathogenic	Familial cylindromatosis Condition: not provided Brooke-Spiegler syndrome Familial cylindromatosis Trichoepithelioma, multiple familial, 1 Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Criteria Provided Multiple Submitters No Conflicts	CA10590069	rs_886040872	5 SubmittersRCV000257976 RCV000760471 RCV001814137 RCV003469207
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	Criteria Provided Multiple Submitters No Conflicts	CA10590086	rs_886040888	3 SubmittersRCV000257977 RCV002466483 RCV003469208
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 SubmittersRCV000311859 RCV000370163 RCV000404707 RCV002264928 RCV003469254
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 SubmittersRCV000278284 RCV000336608 RCV000407966 RCV003418001
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 SubmittersRCV000288251 RCV000347858 RCV000383728 RCV003422268