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
Deletion	NC_000017.11:g.(?_17213645)_(17237188_?)del	FLCN	Pathogenic	17	17116959	17140502	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_17236912)_(17237188_?)del	FLCN	Pathogenic	17	17140226	17140502	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_17221531)_(17228143_?)del	FLCN	Pathogenic	17	17124845	17131457	na	na	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.3del (p.Met1fs)	FLCN	Pathogenic	17	17131449	17131449	TC	T	criteria provided, single submitter	ClinGen:CA645369645
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
Duplication	NM_144997.7(FLCN):c.44dup (p.Arg17fs)	FLCN	Pathogenic	17	17131407	17131408	G	GC	criteria provided, single submitter	ClinGen:CA645369711
Duplication	NM_144997.7(FLCN):c.49dup (p.Arg17fs)	FLCN	Pathogenic	17	17131402	17131403	C	CG	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369710
Deletion	NM_144997.7(FLCN):c.49del (p.Arg17fs)	FLCN	Pathogenic	17	17131403	17131403	CG	C	criteria provided, single submitter	ClinGen:CA8416532
Deletion	NM_144997.7(FLCN):c.59del (p.Phe20fs)	FLCN	Pathogenic	17	17131393	17131393	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580178
Deletion	NM_144997.7(FLCN):c.113del (p.Ser38fs)	FLCN	Pathogenic	17	17131339	17131339	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583459