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.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.557G>A (p.Trp186Ter)	FLCN	Pathogenic	17	17127297	17127297	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580173
Deletion	NM_144997.7(FLCN):c.563del (p.Phe188fs)	FLCN	Pathogenic	17	17127291	17127291	GA	G	criteria provided, multiple submitters, no conflicts	-
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.584del (p.Gly195fs)	FLCN	Pathogenic	17	17127270	17127270	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583457
Deletion	NM_144997.7(FLCN):c.603_607del (p.Lys203fs)	FLCN	Pathogenic	17	17127247	17127251	TTGCCC	T	criteria provided, single submitter	ClinGen:CA645369644
Indel	NM_144997.7(FLCN):c.610_611delinsTA (p.Ala204Ter)	FLCN	Pathogenic	17	17127243	17127244	GC	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA224175,OMIM:607273.0016
single nucleotide variant	NM_144997.7(FLCN):c.619-1G>A	FLCN	Pathogenic	17	17125976	17125976	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398534160
Indel	NM_144997.7(FLCN):c.632_633delinsC (p.Glu211fs)	FLCN	Pathogenic	17	17125961	17125962	CT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586271,OMIM:607273.0003
single nucleotide variant	NM_144997.7(FLCN):c.634C>T (p.Gln212Ter)	FLCN	Pathogenic	17	17125960	17125960	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586270