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.1358_1374del (p.Gly453fs)	FLCN	Pathogenic	17	17118557	17118573	ACTGGTCATCCTCACACC	A	criteria provided, single submitter	ClinGen:CA658798732
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.1359del (p.Cys454fs)	FLCN	Pathogenic	17	17118572	17118572	AC	A	criteria provided, single submitter	ClinGen:CA658798733
Deletion	NM_144997.7(FLCN):c.1352del (p.Pro451fs)	FLCN	Pathogenic	17	17118579	17118579	AG	A	criteria provided, single submitter	ClinGen:CA645369705
Duplication	NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs)	FLCN	Pathogenic	17	17118596	17118597	T	TGCGGCTGCGTGGACCTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586254
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.1326del (p.His442fs)	FLCN	Pathogenic	17	17118605	17118605	CG	C	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
Deletion	NM_144997.7(FLCN):c.1305del (p.Phe435fs)	FLCN	Pathogenic	17	17118626	17118626	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224155
Duplication	NM_144997.7(FLCN):c.1302_1303dup (p.Phe435fs)	FLCN	Pathogenic	17	17118627	17118628	A	AAC	criteria provided, single submitter	ClinGen:CA645369706