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_000017.11:g.(?_17213645)_(17213866_?)del	FLCN	Pathogenic	17	17116959	17117180	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)	FLCN	Pathogenic	17	17118304	17118304	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224159
single nucleotide variant	NM_144997.7(FLCN):c.1532G>A (p.Trp511Ter)	FLCN	Pathogenic	17	17118305	17118305	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586247
Deletion	NM_144997.7(FLCN):c.1528del (p.Glu510fs)	FLCN	Pathogenic	17	17118309	17118309	TC	T	criteria provided, single submitter	ClinGen:CA10586249
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.1504C>T (p.Gln502Ter)	FLCN	Pathogenic	17	17118333	17118333	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603572
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
Duplication	NM_144997.7(FLCN):c.1451_1458dup (p.Glu487fs)	FLCN	Pathogenic	17	17118378	17118379	C	CAATCTTAT	criteria provided, single submitter	ClinGen:CA8415960
Deletion	NM_144997.7(FLCN):c.1451del (p.Asn484fs)	FLCN	Pathogenic	17	17118386	17118386	AT	A	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.1440del (p.Thr481fs)	FLCN	Pathogenic	17	17118397	17118397	TG	T	criteria provided, single submitter	-