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.121C>T (p.Gln41Ter)	FLCN	Pathogenic	17	17131331	17131331	G	A	criteria provided, multiple submitters, no conflicts	-
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
Deletion	NM_144997.7(FLCN):c.158del (p.Gln53fs)	FLCN	Pathogenic	17	17131294	17131294	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369708
Deletion	NM_144997.7(FLCN):c.167del (p.Ser56fs)	FLCN	Pathogenic	17	17131285	17131285	AC	A	criteria provided, single submitter	-
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.189del (p.Ala64fs)	FLCN	Pathogenic/Likely pathogenic	17	17131263	17131263	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580174
Deletion	NM_144997.7(FLCN):c.199del (p.Ala67fs)	FLCN	Pathogenic	17	17131253	17131253	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658540
Deletion	NM_144997.7(FLCN):c.202del (p.Ser68fs)	FLCN	Pathogenic	17	17131250	17131250	CT	C	criteria provided, single submitter	ClinGen:CA16615391
Deletion	NM_144997.7(FLCN):c.214del (p.Ser72fs)	FLCN	Pathogenic	17	17131238	17131238	CT	C	criteria provided, single submitter	ClinGen:CA645369707
Deletion	NM_144997.7(FLCN):c.233del (p.Lys78fs)	FLCN	Pathogenic	17	17131219	17131219	CT	C	criteria provided, single submitter	-