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	NM_144997.7(FLCN):c.1601del (p.Lys534fs)	FLCN	Pathogenic	17	17117108	17117108	CT	C	criteria provided, single submitter	ClinGen:CA10588639
Deletion	NM_144997.7(FLCN):c.1607_1622del (p.Leu536fs)	FLCN	Pathogenic	17	17117087	17117102	CGCACCCAGGATGCTCA	C	criteria provided, multiple submitters, no conflicts	-
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