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
Duplication	NM_144997.7(FLCN):c.171dup (p.Met58fs)	FLCN	Pathogenic	17	17131280	17131281	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603439
Deletion	NM_144997.7(FLCN):c.167del (p.Ser56fs)	FLCN	Pathogenic	17	17131285	17131285	AC	A	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.158del (p.Gln53fs)	FLCN	Pathogenic	17	17131294	17131294	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369708
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.121C>T (p.Gln41Ter)	FLCN	Pathogenic	17	17131331	17131331	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_144997.7(FLCN):c.113del (p.Ser38fs)	FLCN	Pathogenic	17	17131339	17131339	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583459
Deletion	NM_144997.7(FLCN):c.59del (p.Phe20fs)	FLCN	Pathogenic	17	17131393	17131393	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580178
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
Duplication	NM_144997.7(FLCN):c.44dup (p.Arg17fs)	FLCN	Pathogenic	17	17131407	17131408	G	GC	criteria provided, single submitter	ClinGen:CA645369711