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.1432+2T>C	FLCN	Likely pathogenic	17	17118497	17118497	A	G	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
Deletion	NC_000017.10:g.(?_17116047)_(17118400_?)del	FLCN	Pathogenic	17	17116047	17118400	na	na	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.1440del (p.Thr481fs)	FLCN	Pathogenic	17	17118397	17118397	TG	T	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.1451del (p.Asn484fs)	FLCN	Pathogenic	17	17118386	17118386	AT	A	criteria provided, single submitter	-
Duplication	NM_144997.7(FLCN):c.1451_1458dup (p.Glu487fs)	FLCN	Pathogenic	17	17118378	17118379	C	CAATCTTAT	criteria provided, single submitter	ClinGen:CA8415960
single nucleotide variant	NM_144997.7(FLCN):c.1459G>T (p.Glu487Ter)	FLCN	Pathogenic	17	17118378	17118378	C	A	criteria provided, single submitter	ClinGen:CA193015
single nucleotide variant	NM_144997.7(FLCN):c.1504C>T (p.Gln502Ter)	FLCN	Pathogenic	17	17118333	17118333	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603572
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
Deletion	NM_144997.7(FLCN):c.1528del (p.Glu510fs)	FLCN	Pathogenic	17	17118309	17118309	TC	T	criteria provided, single submitter	ClinGen:CA10586249