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.250-2A>G	FLCN	Pathogenic/Likely pathogenic	17	17129638	17129638	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224166,OMIM:607273.0014
single nucleotide variant	NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)	FLCN	Pathogenic	17	17118304	17118304	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224159
Deletion	NM_144997.7(FLCN):c.1522_1524del (p.Lys508del)	FLCN	Pathogenic/Likely pathogenic	17	17118313	17118315	CCTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224156
single nucleotide variant	NM_144997.7(FLCN):c.1433-2A>G	FLCN	Pathogenic/Likely pathogenic	17	17118406	17118406	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA196500
Deletion	NM_144997.7(FLCN):c.1305del (p.Phe435fs)	FLCN	Pathogenic	17	17118626	17118626	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA224155
Duplication	NM_144997.7(FLCN):c.1203dup (p.Ile402fs)	FLCN	Pathogenic	17	17119790	17119791	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA224153
Deletion	NM_144997.7(FLCN):c.1179del (p.Met394fs)	FLCN	Pathogenic	17	17119815	17119815	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224149
single nucleotide variant	NM_144997.7(FLCN):c.1117C>T (p.Gln373Ter)	FLCN	Pathogenic	17	17120442	17120442	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA193155
single nucleotide variant	NM_144997.7(FLCN):c.1060C>T (p.Gln354Ter)	FLCN	Pathogenic	17	17122335	17122335	G	A	criteria provided, single submitter	ClinGen:CA224146
Deletion	NM_144997.7(FLCN):c.235_238del (p.Ser79fs)	FLCN	Pathogenic	17	17131214	17131217	TCCGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA8416487,OMIM:607273.0009