バート・ホッグ・デュベ症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
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.1533G>A (p.Trp511Ter)	FLCN	Pathogenic	17	17118304	17118304	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA224159
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
Deletion	NM_144997.7(FLCN):c.296del (p.Asp99fs)	FLCN	Pathogenic	17	17129590	17129590	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224167
Indel	NM_144997.7(FLCN):c.319_320delinsCAC (p.Val107fs)	FLCN	Pathogenic	17	17129566	17129567	AC	GTG	criteria provided, multiple submitters, no conflicts	ClinGen:CA224168
single nucleotide variant	NM_144997.7(FLCN):c.346C>T (p.Gln116Ter)	FLCN	Pathogenic	17	17129540	17129540	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA224169
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