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.1607_1622del (p.Leu536fs)	FLCN	Pathogenic	17	17117087	17117102	CGCACCCAGGATGCTCA	C	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	-
Deletion	NM_144997.7(FLCN):c.792del (p.Cys265fs)	FLCN	Pathogenic/Likely pathogenic	17	17124930	17124930	AC	A	criteria provided, multiple submitters, no conflicts	-
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	-
Deletion	NM_144997.7(FLCN):c.1188del (p.Val397fs)	FLCN	Pathogenic	17	17119806	17119806	CG	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_144997.7(FLCN):c.804del (p.Arg268_Leu269insTer)	FLCN	Pathogenic	17	17124918	17124918	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_144997.7(FLCN):c.510C>A (p.Tyr170Ter)	FLCN	Pathogenic	17	17127344	17127344	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_144997.7(FLCN):c.887C>G (p.Ser296Ter)	FLCN	Pathogenic	17	17122508	17122508	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_144997.7(FLCN):c.121C>T (p.Gln41Ter)	FLCN	Pathogenic	17	17131331	17131331	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_144997.7(FLCN):c.365_372del (p.Arg122fs)	FLCN	Pathogenic	17	17129514	17129521	AGGCCTGGC	A	criteria provided, single submitter	-