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.1052C>G (p.Ser351Ter)	FH	Pathogenic	1	241667398	241667398	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA345438126
Deletion	NM_000143.4(FH):c.805del (p.Ile269fs)	FH	Pathogenic	1	241669402	241669402	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369176
single nucleotide variant	NM_000143.4(FH):c.757C>T (p.Gln253Ter)	FH	Pathogenic	1	241669450	241669450	G	A	criteria provided, single submitter	ClinGen:CA345439087
single nucleotide variant	NM_000143.4(FH):c.739G>T (p.Glu247Ter)	FH	Pathogenic	1	241669468	241669468	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA345439127
single nucleotide variant	NM_000143.4(FH):c.689A>G (p.Lys230Arg)	FH	Pathogenic	1	241671952	241671952	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1478630
Deletion	NM_000143.4(FH):c.563del (p.Asn188fs)	FH	Pathogenic	1	241672078	241672078	AT	A	criteria provided, single submitter	ClinGen:CA645369177
single nucleotide variant	NM_000143.4(FH):c.450T>A (p.Asn150Lys)	FH	Likely pathogenic	1	241675372	241675372	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345440080
single nucleotide variant	NM_000143.4(FH):c.379-2A>G	FH	Pathogenic	1	241675445	241675445	T	C	criteria provided, single submitter	ClinGen:CA345440239
single nucleotide variant	NM_000143.4(FH):c.378+2T>C	FH	Likely pathogenic	1	241676901	241676901	A	G	criteria provided, single submitter	ClinGen:CA345440402
Duplication	NM_000143.4(FH):c.174_177dup (p.Leu60Ter)	FH	Pathogenic	1	241680571	241680572	G	GTTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369175