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.1144A>G (p.Met382Val)	FH	Pathogenic/Likely pathogenic	1	241665835	241665835	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588290
Deletion	NM_000143.4(FH):c.668_669del (p.Lys223fs)	FH	Pathogenic	1	241671972	241671973	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588291
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
Deletion	NM_000143.4(FH):c.944_945del (p.Leu315fs)	FH	Pathogenic	1	241667505	241667506	CCA	C	criteria provided, single submitter	ClinGen:CA10602767
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.1302C>A (p.Cys434Ter)	FH	Likely pathogenic	1	241663825	241663825	G	T	criteria provided, single submitter	ClinGen:CA16042384
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
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
Duplication	NM_000143.4(FH):c.1298_1340dup (p.Met449fs)	FH	Pathogenic	1	241663786	241663787	C	CTTGTTGATCCTTTCTGTATTGGCCTGGATTCCCACCACGCAGT	criteria provided, single submitter	ClinGen:CA16609360
Deletion	NM_000143.4(FH):c.1209del (p.Phe403fs)	FH	Pathogenic	1	241665770	241665770	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609361