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_000017.10:g.(?_17116047)_(17118400_?)del	FLCN	Pathogenic	17	17116047	17118400	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_17213645)_(17237188_?)del	FLCN	Pathogenic	17	17116959	17140502	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_17213645)_(17213866_?)del	FLCN	Pathogenic	17	17116959	17117180	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)	FLCN	Pathogenic/Likely pathogenic	17	17117052	17117052	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398529920
Deletion	NM_144997.7(FLCN):c.1607_1622del (p.Leu536fs)	FLCN	Pathogenic	17	17117087	17117102	CGCACCCAGGATGCTCA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_144997.7(FLCN):c.1601del (p.Lys534fs)	FLCN	Pathogenic	17	17117108	17117108	CT	C	criteria provided, single submitter	ClinGen:CA10588639
Duplication	NM_144997.7(FLCN):c.1599_1600dup (p.Lys534fs)	FLCN	Pathogenic	17	17117108	17117109	T	TTC	criteria provided, single submitter	ClinGen:CA658656529
Deletion	NM_144997.7(FLCN):c.1578_1599del (p.Ser526fs)	FLCN	Pathogenic/Likely pathogenic	17	17117110	17117131	TCTGTGTGTCCTCTTTGGGTCGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043039
Deletion	NM_144997.7(FLCN):c.1584del (p.Glu530fs)	FLCN	Pathogenic/Likely pathogenic	17	17117125	17117125	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369642
Insertion	NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)	FLCN	Pathogenic	17	17117129	17117130	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA8415933