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.139C>T (p.Gln47Ter)	FH	Pathogenic	1	241680610	241680610	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA324825
single nucleotide variant	NM_000143.4(FH):c.133-1G>A	FH	Pathogenic	1	241680617	241680617	C	T	criteria provided, single submitter	ClinGen:CA323663
single nucleotide variant	NM_000143.4(FH):c.132G>A (p.Met44Ile)	FH	Pathogenic	1	241682891	241682891	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA323363
single nucleotide variant	NM_000143.4(FH):c.1120C>A (p.Pro374Thr)	FH	Likely pathogenic	1	241665859	241665859	G	T	criteria provided, single submitter	ClinGen:CA10577685
Deletion	NM_000143.4(FH):c.316del (p.Glu105_Val106insTer)	FH	Pathogenic	1	241676965	241676965	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577688
single nucleotide variant	NM_000143.4(FH):c.701C>T (p.Thr234Ile)	FH	Pathogenic	1	241671940	241671940	G	A	criteria provided, single submitter	ClinGen:CA10581783
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
single nucleotide variant	NM_000143.4(FH):c.267+1G>C	FH	Pathogenic	1	241680481	241680481	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581786
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.1390+1G>T	FH	Pathogenic/Likely pathogenic	1	241663736	241663736	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588288,OMIM:136850.0013