遺伝性平滑筋腫症−腎細胞がん症候群

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_000143.4(FH):c.739-2A>G	FH	Pathogenic/Likely pathogenic	1	241669470	241669470	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000001.11:g.(?_241497818)_(241508795_?)del	FH	Pathogenic	1	241661118	241672095	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_241497818)_(241519732_?)del	FH	Pathogenic	1	241661118	241683032	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_241497818)_(241504255_?)del	FH	Pathogenic	1	241661118	241667555	na	na	criteria provided, single submitter	-
Duplication	NM_000143.4(FH):c.5dup (p.Tyr2Ter)	FH	Pathogenic	1	241683017	241683018	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.127C>T (p.Arg43Ter)	FH	Pathogenic	1	241682896	241682896	G	A	criteria provided, single submitter	-
Deletion	NM_000143.4(FH):c.120_130del (p.Ala41fs)	FH	Pathogenic	1	241682893	241682903	ATTCGAGCCGCG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.152G>C (p.Arg51Pro)	FH	Likely pathogenic	1	241680597	241680597	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.175G>T (p.Glu59Ter)	FH	Pathogenic	1	241680574	241680574	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000143.4(FH):c.344del (p.Lys115fs)	FH	Pathogenic	1	241676937	241676937	CT	C	criteria provided, single submitter	-