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.1532G>A (p.Trp511Ter)	FLCN	Pathogenic	17	17118305	17118305	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586247
single nucleotide variant	NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)	FLCN	Pathogenic	17	17118304	17118304	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224159
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.1539-2A>G	FLCN	Pathogenic/Likely pathogenic	17	17117172	17117172	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583451
single nucleotide variant	NM_144997.7(FLCN):c.1540A>T (p.Lys514Ter)	FLCN	Pathogenic	17	17117169	17117169	T	A	criteria provided, single submitter	ClinGen:CA10603293
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
single nucleotide variant	NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)	FLCN	Pathogenic/Likely pathogenic	17	17117130	17117130	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586246
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
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
Duplication	NM_144997.7(FLCN):c.1599_1600dup (p.Lys534fs)	FLCN	Pathogenic	17	17117108	17117109	T	TTC	criteria provided, single submitter	ClinGen:CA658656529