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.249+1G>T	FLCN	Likely pathogenic	17	17131202	17131202	C	A	criteria provided, single submitter	ClinGen:CA16615127
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
Duplication	NM_144997.7(FLCN):c.237_240dup (p.Met81fs)	FLCN	Pathogenic	17	17131211	17131212	T	TGTCC	criteria provided, multiple submitters, no conflicts	-
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.235_238del (p.Ser79fs)	FLCN	Pathogenic	17	17131214	17131217	TCCGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8416487,OMIM:607273.0009
Deletion	NM_144997.7(FLCN):c.233del (p.Lys78fs)	FLCN	Pathogenic	17	17131219	17131219	CT	C	criteria provided, single submitter	-
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.202del (p.Ser68fs)	FLCN	Pathogenic	17	17131250	17131250	CT	C	criteria provided, single submitter	ClinGen:CA16615391
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.189del (p.Ala64fs)	FLCN	Pathogenic/Likely pathogenic	17	17131263	17131263	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580174