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.(?_241505993)_(241506178_?)del	FH	Pathogenic	1	241669293	241669478	na	na	criteria provided, single submitter	-
Deletion	NM_000143.4(FH):c.1205del (p.His402fs)	FH	Pathogenic	1	241665774	241665774	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.556-2A>G	FH	Likely pathogenic	1	241672087	241672087	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.554A>C (p.Gln185Pro)	FH	Likely pathogenic	1	241675268	241675268	T	G	criteria provided, single submitter	-
Deletion	NM_000143.4(FH):c.353del (p.Asn118fs)	FH	Pathogenic	1	241676928	241676928	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000143.4(FH):c.301_319del (p.Arg101fs)	FH	Pathogenic	1	241676962	241676980	TTTACTTCAGCGGCCGCTCG	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000143.4(FH):c.185_188dup (p.Asn64fs)	FH	Pathogenic	1	241680560	241680561	T	TGGCA	criteria provided, single submitter	-
Deletion	NM_000143.4(FH):c.1138del (p.Ala379_Met380insTer)	FH	Pathogenic	1	241665841	241665841	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.201T>G (p.Tyr67Ter)	FH	Pathogenic	1	241680548	241680548	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000143.4(FH):c.1351G>T (p.Glu451Ter)	FH	Pathogenic	1	241663776	241663776	C	A	criteria provided, single submitter	-