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	NC_000017.10:g.(?_17116047)_(17118400_?)del	FLCN	Pathogenic	17	17116047	17118400	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_144997.7(FLCN):c.1433-2A>G	FLCN	Pathogenic/Likely pathogenic	17	17118406	17118406	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA196500
single nucleotide variant	NM_144997.7(FLCN):c.1432+2T>C	FLCN	Likely pathogenic	17	17118497	17118497	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_144997.7(FLCN):c.1432+1G>A	FLCN	Pathogenic	17	17118498	17118498	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586251
single nucleotide variant	NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)	FLCN	Pathogenic	17	17118502	17118502	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586252
Duplication	NM_144997.7(FLCN):c.1426dup (p.Asp476fs)	FLCN	Pathogenic	17	17118504	17118505	T	TC	criteria provided, single submitter	ClinGen:CA645369704
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
single nucleotide variant	NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter)	FLCN	Pathogenic/Likely pathogenic	17	17118542	17118542	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586253
Deletion	NM_144997.7(FLCN):c.1359del (p.Cys454fs)	FLCN	Pathogenic	17	17118572	17118572	AC	A	criteria provided, single submitter	ClinGen:CA658798733
Deletion	NM_144997.7(FLCN):c.1358_1374del (p.Gly453fs)	FLCN	Pathogenic	17	17118557	17118573	ACTGGTCATCCTCACACC	A	criteria provided, single submitter	ClinGen:CA658798732