遺伝性平滑筋腫症−腎細胞がん症候群

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_000143.4(FH):c.267+1G>C	FH	Pathogenic	1	241680481	241680481	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581786
Deletion	NM_000143.4(FH):c.267+1_267+10del	FH	Pathogenic	1	241680472	241680481	ATGCCACTTAC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609378
Deletion	NM_000143.4(FH):c.295_301del (p.Leu99fs)	FH	Pathogenic	1	241676980	241676986	CGCTTCAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA324132
single nucleotide variant	NM_000143.4(FH):c.301C>T (p.Arg101Ter)	FH	Pathogenic	1	241676980	241676980	G	A	criteria provided, multiple submitters, no conflicts	OMIM:136850.0003,ClinGen:CA167288
single nucleotide variant	NM_000143.4(FH):c.302G>C (p.Arg101Pro)	FH	Pathogenic/Likely pathogenic	1	241676979	241676979	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341389,OMIM:136850.0009
Deletion	NM_000143.4(FH):c.316del (p.Glu105_Val106insTer)	FH	Pathogenic	1	241676965	241676965	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577688
Deletion	NM_000143.4(FH):c.301_319del (p.Arg101fs)	FH	Pathogenic	1	241676962	241676980	TTTACTTCAGCGGCCGCTCG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000143.4(FH):c.320A>C (p.Asn107Thr)	FH	Pathogenic/Likely pathogenic	1	241676961	241676961	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257456,UniProtKB:P07954#VAR_013497,OMIM:136850.0004
single nucleotide variant	NM_000143.4(FH):c.322C>T (p.Gln108Ter)	FH	Pathogenic/Likely pathogenic	1	241676959	241676959	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609377
Deletion	NM_000143.4(FH):c.344del (p.Lys115fs)	FH	Pathogenic	1	241676937	241676937	CT	C	criteria provided, single submitter	-