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.1578_1599del (p.Ser526fs)	FLCN	Pathogenic/Likely pathogenic	17	17117110	17117131	TCTGTGTGTCCTCTTTGGGTCGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043039
Deletion	NM_144997.7(FLCN):c.932_933del (p.Pro311fs)	FLCN	Pathogenic	17	17122462	17122463	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043355
single nucleotide variant	NM_144997.7(FLCN):c.1227C>A (p.Tyr409Ter)	FLCN	Pathogenic	17	17119767	17119767	G	T	criteria provided, single submitter	ClinGen:CA16607537
single nucleotide variant	NM_144997.7(FLCN):c.1177-2A>G	FLCN	Pathogenic	17	17119819	17119819	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16607538
single nucleotide variant	NM_144997.7(FLCN):c.780-1G>T	FLCN	Pathogenic	17	17124943	17124943	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615114
single nucleotide variant	NM_144997.7(FLCN):c.249+1G>T	FLCN	Likely pathogenic	17	17131202	17131202	C	A	criteria provided, single submitter	ClinGen:CA16615127
Deletion	NM_144997.7(FLCN):c.1021del (p.Arg341fs)	FLCN	Pathogenic	17	17122374	17122374	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615368
Deletion	NM_144997.7(FLCN):c.239del (p.Asp80fs)	FLCN	Pathogenic	17	17131213	17131213	GT	G	criteria provided, single submitter	ClinGen:CA16615385
Deletion	NM_144997.7(FLCN):c.202del (p.Ser68fs)	FLCN	Pathogenic	17	17131250	17131250	CT	C	criteria provided, single submitter	ClinGen:CA16615391
Indel	NM_144997.7(FLCN):c.503_518delinsATCAG (p.Arg168fs)	FLCN	Pathogenic	17	17127336	17127351	ATGATGCTGTACCAGC	CTGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615530