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.603_607del (p.Lys203fs)	FLCN	Pathogenic	17	17127247	17127251	TTGCCC	T	criteria provided, single submitter	ClinGen:CA645369644
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.158del (p.Gln53fs)	FLCN	Pathogenic	17	17131294	17131294	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369708
Duplication	NM_144997.7(FLCN):c.44dup (p.Arg17fs)	FLCN	Pathogenic	17	17131407	17131408	G	GC	criteria provided, single submitter	ClinGen:CA645369711
single nucleotide variant	NM_144997.7(FLCN):c.33C>A (p.Cys11Ter)	FLCN	Pathogenic	17	17131419	17131419	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398535464
Deletion	NM_144997.7(FLCN):c.3del (p.Met1fs)	FLCN	Pathogenic	17	17131449	17131449	TC	T	criteria provided, single submitter	ClinGen:CA645369645
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.932del (p.Pro311fs)	FLCN	Likely pathogenic	17	17122463	17122463	AG	A	criteria provided, single submitter	ClinGen:CA645373074
single nucleotide variant	NM_144997.7(FLCN):c.507G>A (p.Trp169Ter)	FLCN	Pathogenic	17	17127347	17127347	C	T	criteria provided, single submitter	ClinGen:CA398534408
single nucleotide variant	NM_144997.7(FLCN):c.1301-2A>G	FLCN	Pathogenic/Likely pathogenic	17	17118632	17118632	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398531521