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
Duplication	NM_144997.7(FLCN):c.1302_1303dup (p.Phe435fs)	FLCN	Pathogenic	17	17118627	17118628	A	AAC	criteria provided, single submitter	ClinGen:CA645369706
Duplication	NM_144997.7(FLCN):c.1213dup (p.Tyr405fs)	FLCN	Pathogenic	17	17119780	17119781	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369714
Duplication	NM_144997.7(FLCN):c.1098_1102dup (p.Val368fs)	FLCN	Pathogenic	17	17120456	17120457	A	ACGTGC	criteria provided, single submitter	ClinGen:CA645369643
single nucleotide variant	NM_144997.7(FLCN):c.1062+1G>A	FLCN	Pathogenic	17	17122332	17122332	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398532584
Deletion	NM_144997.7(FLCN):c.1014del (p.Trp338fs)	FLCN	Pathogenic	17	17122381	17122381	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369709
single nucleotide variant	NM_144997.7(FLCN):c.919G>T (p.Glu307Ter)	FLCN	Pathogenic	17	17122476	17122476	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA288311789
single nucleotide variant	NM_144997.7(FLCN):c.838G>T (p.Glu280Ter)	FLCN	Pathogenic	17	17124884	17124884	C	A	criteria provided, single submitter	ClinGen:CA398533684
single nucleotide variant	NM_144997.7(FLCN):c.780G>A (p.Trp260Ter)	FLCN	Pathogenic	17	17124942	17124942	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA398533803
single nucleotide variant	NM_144997.7(FLCN):c.779+1G>C	FLCN	Pathogenic	17	17125814	17125814	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398533812
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