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
Indel	NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)	FLCN	Pathogenic	17	17125961	17125962	CT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586271,OMIM:607273.0003
Deletion	NM_144997.7(FLCN):c.453del (p.Phe152fs)	FLCN	Pathogenic	17	17127401	17127401	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586272
Deletion	NM_144997.7(FLCN):c.1601del (p.Lys534fs)	FLCN	Pathogenic	17	17117108	17117108	CT	C	criteria provided, single submitter	ClinGen:CA10588639
single nucleotide variant	NM_144997.7(FLCN):c.1062+2T>G	FLCN	Pathogenic	17	17122331	17122331	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588640
Deletion	NM_144997.7(FLCN):c.708del (p.Asn236fs)	FLCN	Pathogenic	17	17125886	17125886	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588641
single nucleotide variant	NM_144997.7(FLCN):c.1540A>T (p.Lys514Ter)	FLCN	Pathogenic	17	17117169	17117169	T	A	criteria provided, single submitter	ClinGen:CA10603293
Duplication	NM_144997.7(FLCN):c.171dup (p.Met58fs)	FLCN	Pathogenic	17	17131280	17131281	T	TC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603439
single nucleotide variant	NM_144997.7(FLCN):c.1504C>T (p.Gln502Ter)	FLCN	Pathogenic	17	17118333	17118333	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603572
single nucleotide variant	NM_144997.7(FLCN):c.1227C>G (p.Tyr409Ter)	FLCN	Pathogenic	17	17119767	17119767	G	C	criteria provided, single submitter	ClinGen:CA10603582
Deletion	NM_144997.7(FLCN):c.241_242del (p.Met81fs)	FLCN	Pathogenic	17	17131210	17131211	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043012