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.1300+2T>G	FLCN	Pathogenic	17	17119692	17119692	A	C	criteria provided, single submitter	ClinGen:CA16620338
Insertion	NM_144997.7(FLCN):c.1285_1286insG (p.His429fs)	FLCN	Pathogenic	17	17119708	17119709	T	TC	criteria provided, single submitter	ClinGen:CA16620339
Deletion	NM_144997.7(FLCN):c.49del (p.Arg17fs)	FLCN	Pathogenic	17	17131403	17131403	CG	C	criteria provided, single submitter	ClinGen:CA8416532
Duplication	NM_144997.7(FLCN):c.1329_1332dup (p.Ala445fs)	FLCN	Pathogenic	17	17118598	17118599	C	CGGCT	criteria provided, single submitter	ClinGen:CA645294094
Deletion	NM_144997.7(FLCN):c.521_527del (p.Thr174fs)	FLCN	Pathogenic	17	17127327	17127333	CATGATGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645293898
single nucleotide variant	NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)	FLCN	Pathogenic/Likely pathogenic	17	17117052	17117052	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398529920
Deletion	NM_144997.7(FLCN):c.1584del (p.Glu530fs)	FLCN	Pathogenic/Likely pathogenic	17	17117125	17117125	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369642
Duplication	NM_144997.7(FLCN):c.1426dup (p.Asp476fs)	FLCN	Pathogenic	17	17118504	17118505	T	TC	criteria provided, single submitter	ClinGen:CA645369704
Deletion	NM_144997.7(FLCN):c.1357_1363del (p.Gly453fs)	FLCN	Pathogenic/Likely pathogenic	17	17118568	17118574	TCACACCC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA498421326
Deletion	NM_144997.7(FLCN):c.1352del (p.Pro451fs)	FLCN	Pathogenic	17	17118579	17118579	AG	A	criteria provided, single submitter	ClinGen:CA645369705