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
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
Duplication	NM_144997.7(FLCN):c.828_829dup (p.Ala277fs)	FLCN	Pathogenic	17	17124892	17124893	G	GCA	criteria provided, single submitter	ClinGen:CA224178
Deletion	NM_144997.7(FLCN):c.890_893del (p.Glu297fs)	FLCN	Pathogenic	17	17122502	17122505	GCTTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA224180
Duplication	NM_144997.7(FLCN):c.927_954dup (p.Gly319fs)	FLCN	Pathogenic	17	17122440	17122441	C	CTTCTGTACTCTCTGGCAACACAGGGGCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA224181,OMIM:607273.0004
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
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
Deletion	NM_144997.7(FLCN):c.1252del (p.Leu418fs)	FLCN	Pathogenic	17	17119742	17119742	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348602