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.1062+2T>C	FLCN	Pathogenic	17	17122331	17122331	A	G	criteria provided, single submitter	ClinGen:CA398532579
single nucleotide variant	NM_144997.7(FLCN):c.780-2A>G	FLCN	Pathogenic/Likely pathogenic	17	17124944	17124944	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398533806
single nucleotide variant	NM_144997.7(FLCN):c.649C>T (p.Gln217Ter)	FLCN	Pathogenic	17	17125945	17125945	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398534088
single nucleotide variant	NM_144997.7(FLCN):c.127G>T (p.Glu43Ter)	FLCN	Pathogenic/Likely pathogenic	17	17131325	17131325	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398535274
Deletion	NC_000017.10:g.(?_17116047)_(17118400_?)del	FLCN	Pathogenic	17	17116047	17118400	na	na	criteria provided, single submitter	-
Duplication	NM_144997.7(FLCN):c.979dup (p.Ala327fs)	FLCN	Pathogenic	17	17122415	17122416	G	GC	criteria provided, single submitter	ClinGen:CA658658537
Duplication	NM_144997.7(FLCN):c.1599_1600dup (p.Lys534fs)	FLCN	Pathogenic	17	17117108	17117109	T	TTC	criteria provided, single submitter	ClinGen:CA658656529
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.1286_1287dup (p.Val430fs)	FLCN	Pathogenic	17	17119706	17119707	C	CGT	criteria provided, single submitter	ClinGen:CA658656536
Deletion	NM_144997.7(FLCN):c.1153del (p.Gln385fs)	FLCN	Pathogenic	17	17120406	17120406	TG	T	criteria provided, single submitter	ClinGen:CA658656540