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.322C>T (p.Gln108Ter)	FH	Pathogenic/Likely pathogenic	1	241676959	241676959	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609377
single nucleotide variant	NM_000143.4(FH):c.556-2A>T	FH	Pathogenic/Likely pathogenic	1	241672087	241672087	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1478651
Deletion	NM_000143.4(FH):c.578_583del (p.Thr193_Ala194del)	FH	Pathogenic/Likely pathogenic	1	241672058	241672063	ATTGCTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609372
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
single nucleotide variant	NM_000143.4(FH):c.923C>G (p.Ala308Gly)	FH	Pathogenic/Likely pathogenic	1	241667527	241667527	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603595
single nucleotide variant	NM_000143.4(FH):c.1108+1G>T	FH	Pathogenic/Likely pathogenic	1	241667341	241667341	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042358
single nucleotide variant	NM_000143.4(FH):c.349G>C (p.Ala117Pro)	FH	Pathogenic/Likely pathogenic	1	241676932	241676932	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588292,UniProtKB:P07954#VAR_013498
single nucleotide variant	NM_000143.4(FH):c.1144A>G (p.Met382Val)	FH	Pathogenic/Likely pathogenic	1	241665835	241665835	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588290
single nucleotide variant	NM_000143.4(FH):c.1390+1G>T	FH	Pathogenic/Likely pathogenic	1	241663736	241663736	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588288,OMIM:136850.0013
single nucleotide variant	NM_000143.4(FH):c.478A>G (p.Arg160Gly)	FH	Pathogenic/Likely pathogenic	1	241675344	241675344	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581784