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.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
single nucleotide variant	NM_144997.7(FLCN):c.1300G>T (p.Glu434Ter)	FLCN	Pathogenic	17	17119694	17119694	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398531571
Deletion	NM_144997.7(FLCN):c.199del (p.Ala67fs)	FLCN	Pathogenic	17	17131253	17131253	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658540
Deletion	NM_144997.7(FLCN):c.1153del (p.Gln385fs)	FLCN	Pathogenic	17	17120406	17120406	TG	T	criteria provided, single submitter	ClinGen:CA658656540
Duplication	NM_144997.7(FLCN):c.1286_1287dup (p.Val430fs)	FLCN	Pathogenic	17	17119706	17119707	C	CGT	criteria provided, single submitter	ClinGen:CA658656536
Duplication	NM_144997.7(FLCN):c.1451_1458dup (p.Glu487fs)	FLCN	Pathogenic	17	17118378	17118379	C	CAATCTTAT	criteria provided, single submitter	ClinGen:CA8415960
Duplication	NM_144997.7(FLCN):c.1599_1600dup (p.Lys534fs)	FLCN	Pathogenic	17	17117108	17117109	T	TTC	criteria provided, single submitter	ClinGen:CA658656529