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.1389C>A (p.Tyr463Ter)	FLCN	Pathogenic/Likely pathogenic	17	17118542	17118542	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586253
single nucleotide variant	NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)	FLCN	Pathogenic/Likely pathogenic	17	17117130	17117130	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586246
single nucleotide variant	NM_144997.7(FLCN):c.1539-2A>G	FLCN	Pathogenic/Likely pathogenic	17	17117172	17117172	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583451
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
single nucleotide variant	NM_144997.7(FLCN):c.779+1G>T	FLCN	Pathogenic/Likely pathogenic	17	17125814	17125814	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8416321
single nucleotide variant	NM_144997.7(FLCN):c.250-1G>A	FLCN	Pathogenic/Likely pathogenic	17	17129637	17129637	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA191617
single nucleotide variant	NM_144997.7(FLCN):c.250-2A>G	FLCN	Pathogenic/Likely pathogenic	17	17129638	17129638	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224166,OMIM:607273.0014
Deletion	NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)	FLCN	Pathogenic/Likely pathogenic	17	17118313	17118315	CCTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224156
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
Deletion	NC_000017.11:g.(?_17213645)_(17213866_?)del	FLCN	Pathogenic	17	17116959	17117180	na	na	criteria provided, single submitter	-