バート・ホッグ・デュベ症候群

腫瘍性疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_144997.7(FLCN):c.33C>A (p.Cys11Ter)	FLCN	Pathogenic	17	17131419	17131419	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398535464
Deletion	NM_144997.7(FLCN):c.3del (p.Met1fs)	FLCN	Pathogenic	17	17131449	17131449	TC	T	criteria provided, single submitter	ClinGen:CA645369645
Deletion	NC_000017.11:g.(?_17236912)_(17237188_?)del	FLCN	Pathogenic	17	17140226	17140502	na	na	criteria provided, single submitter	-