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.943G>T (p.Glu315Ter)	FLCN	Pathogenic	17	17122452	17122452	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA166183
single nucleotide variant	NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)	FLCN	Pathogenic	17	17127355	17127355	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA166645
single nucleotide variant	NM_144997.7(FLCN):c.779G>A (p.Trp260Ter)	FLCN	Pathogenic	17	17125815	17125815	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA211427
Deletion	NM_144997.7(FLCN):c.446del (p.Gly149fs)	FLCN	Likely pathogenic	17	17127408	17127408	GC	G	criteria provided, single submitter	ClinGen:CA273584
single nucleotide variant	NM_144997.7(FLCN):c.1459G>T (p.Glu487Ter)	FLCN	Pathogenic	17	17118378	17118378	C	A	criteria provided, single submitter	ClinGen:CA193015
single nucleotide variant	NM_144997.7(FLCN):c.1215C>G (p.Tyr405Ter)	FLCN	Pathogenic	17	17119779	17119779	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA193271
single nucleotide variant	NM_144997.7(FLCN):c.250-1G>A	FLCN	Pathogenic/Likely pathogenic	17	17129637	17129637	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA191617
Deletion	NM_144997.7(FLCN):c.1252del (p.Leu418fs)	FLCN	Pathogenic	17	17119742	17119742	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348602
single nucleotide variant	NM_144997.7(FLCN):c.779+1G>T	FLCN	Pathogenic/Likely pathogenic	17	17125814	17125814	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA8416321
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