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	-
single nucleotide variant	NM_000143.4(FH):c.583A>G (p.Met195Val)	FH	Pathogenic/Likely pathogenic	1	241672058	241672058	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA345439454
single nucleotide variant	NM_000143.4(FH):c.555+1G>A	FH	Pathogenic/Likely pathogenic	1	241675266	241675266	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345439814
Deletion	NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer)	FH	Pathogenic/Likely pathogenic	1	241669397	241669398	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657000
single nucleotide variant	NM_000143.4(FH):c.1094G>A (p.Ser365Asn)	FH	Pathogenic/Likely pathogenic	1	241667356	241667356	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345437940
Deletion	NM_000143.4(FH):c.504del (p.Glu168fs)	FH	Pathogenic/Likely pathogenic	1	241675318	241675318	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA1478674
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
single nucleotide variant	NM_000143.4(FH):c.1157A>G (p.Gln386Arg)	FH	Pathogenic/Likely pathogenic	1	241665822	241665822	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610070
single nucleotide variant	NM_000143.4(FH):c.738+2T>C	FH	Pathogenic/Likely pathogenic	1	241671901	241671901	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610056
single nucleotide variant	NM_000143.4(FH):c.1021G>A (p.Asp341Asn)	FH	Pathogenic/Likely pathogenic	1	241667429	241667429	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610053