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.1451del (p.Asn484fs)	FLCN	Pathogenic	17	17118386	17118386	AT	A	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_17236912)_(17237188_?)del	FLCN	Pathogenic	17	17140226	17140502	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_17223916)_(17224149_?)del	FLCN	Likely pathogenic	17	17127230	17127463	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_144997.7(FLCN):c.583G>T (p.Gly195Ter)	FLCN	Pathogenic	17	17127271	17127271	C	A	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.233del (p.Lys78fs)	FLCN	Pathogenic	17	17131219	17131219	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_144997.7(FLCN):c.1245C>A (p.Cys415Ter)	FLCN	Pathogenic/Likely pathogenic	17	17119749	17119749	G	T	criteria provided, multiple submitters, no conflicts	-
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
Deletion	NC_000017.11:g.(?_17221531)_(17228143_?)del	FLCN	Pathogenic	17	17124845	17131457	na	na	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.1318del (p.Glu440fs)	FLCN	Pathogenic	17	17118613	17118613	TC	T	criteria provided, single submitter	ClinGen:CA658798734