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.127G>T (p.Glu43Ter)	FLCN	Pathogenic/Likely pathogenic	17	17131325	17131325	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398535274
single nucleotide variant	NM_144997.7(FLCN):c.1245C>A (p.Cys415Ter)	FLCN	Pathogenic/Likely pathogenic	17	17119749	17119749	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_144997.7(FLCN):c.792del (p.Cys265fs)	FLCN	Pathogenic/Likely pathogenic	17	17124930	17124930	AC	A	criteria provided, multiple submitters, no conflicts	-