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
Deletion	NC_000001.11:g.(?_241497557)_(241504245_?)del	FH	Pathogenic	1	241660857	241667545	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_241497557)_(241519785_?)del	FH	Pathogenic	1	241660857	241683085	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	-
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)_(241508795_?)del	FH	Pathogenic	1	241661118	241672095	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.1500G>A (p.Trp500Ter)	FH	Pathogenic	1	241661161	241661161	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588287
single nucleotide variant	NM_000143.4(FH):c.1486C>T (p.Gln496Ter)	FH	Likely pathogenic	1	241661175	241661175	G	A	criteria provided, single submitter	ClinGen:CA345450387
Deletion	NM_000143.4(FH):c.1469del (p.Gly490fs)	FH	Pathogenic/Likely pathogenic	1	241661192	241661192	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609359
Deletion	NM_000143.4(FH):c.1446_1449del (p.Glu484fs)	FH	Pathogenic	1	241661212	241661215	CCTTT	C	criteria provided, single submitter	ClinGen:CA220380
single nucleotide variant	NM_000143.4(FH):c.1445T>G (p.Leu482Ter)	FH	Pathogenic/Likely pathogenic	1	241661216	241661216	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617112