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.446del (p.Gly149fs)	FLCN	Likely pathogenic	17	17127408	17127408	GC	G	criteria provided, single submitter	ClinGen:CA273584
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.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.1176+1G>T	FLCN	Likely pathogenic	17	17120382	17120382	C	A	criteria provided, single submitter	ClinGen:CA398532087
Deletion	NC_000017.11:g.(?_17223916)_(17224149_?)del	FLCN	Likely pathogenic	17	17127230	17127463	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_144997.7(FLCN):c.872-1G>T	FLCN	Likely pathogenic	17	17122524	17122524	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_144997.7(FLCN):c.1432+2T>C	FLCN	Likely pathogenic	17	17118497	17118497	A	G	criteria provided, single submitter	-
Duplication	NM_144997.7(FLCN):c.1285dup (p.His429fs)	FLCN	Pathogenic	17	17119708	17119709	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA090951,OMIM:607273.0001
Deletion	NM_144997.7(FLCN):c.1285del (p.His429fs)	FLCN	Pathogenic	17	17119709	17119709	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224154,OMIM:607273.0002
single nucleotide variant	NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)	FLCN	Pathogenic	17	17118542	17118542	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA196224,OMIM:607273.0005