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
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
Duplication	NM_144997.7(FLCN):c.347dup (p.Leu117fs)	FLCN	Pathogenic	17	17129538	17129539	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA8416448
Deletion	NM_144997.7(FLCN):c.365_372del (p.Arg122fs)	FLCN	Pathogenic	17	17129514	17129521	AGGCCTGGC	A	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_17223916)_(17224149_?)del	FLCN	Likely pathogenic	17	17127230	17127463	na	na	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.446del (p.Gly149fs)	FLCN	Likely pathogenic	17	17127408	17127408	GC	G	criteria provided, single submitter	ClinGen:CA273584
Deletion	NM_144997.7(FLCN):c.453del (p.Phe152fs)	FLCN	Pathogenic	17	17127401	17127401	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586272
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
Indel	NM_144997.7(FLCN):c.503_518delinsATCAG (p.Arg168fs)	FLCN	Pathogenic	17	17127336	17127351	ATGATGCTGTACCAGC	CTGAT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615530
single nucleotide variant	NM_144997.7(FLCN):c.507G>A (p.Trp169Ter)	FLCN	Pathogenic	17	17127347	17127347	C	T	criteria provided, single submitter	ClinGen:CA398534408
single nucleotide variant	NM_144997.7(FLCN):c.510C>A (p.Tyr170Ter)	FLCN	Pathogenic	17	17127344	17127344	G	T	criteria provided, single submitter	-