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.1084G>C (p.Glu362Gln)	FH	Likely pathogenic	1	241667366	241667366	C	G	criteria provided, single submitter	ClinGen:CA257453,OMIM:136850.0002
single nucleotide variant	NM_000143.4(FH):c.1000A>C (p.Ser334Arg)	FH	Likely pathogenic	1	241667450	241667450	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA167342
single nucleotide variant	NM_000143.4(FH):c.557G>A (p.Ser186Asn)	FH	Likely pathogenic	1	241672084	241672084	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA169030
single nucleotide variant	NM_000143.4(FH):c.1146G>A (p.Met382Ile)	FH	Likely pathogenic	1	241665833	241665833	C	T	criteria provided, single submitter	ClinGen:CA322667
single nucleotide variant	NM_000143.4(FH):c.1112A>G (p.Lys371Arg)	FH	Likely pathogenic	1	241665867	241665867	T	C	criteria provided, single submitter	-
Indel	NM_000143.4(FH):c.1104_1106delinsACT (p.Met368_Pro369delinsIleLeu)	FH	Likely pathogenic	1	241667344	241667346	GGC	AGT	criteria provided, single submitter	ClinGen:CA323289
single nucleotide variant	NM_000143.4(FH):c.1007T>G (p.Met336Arg)	FH	Likely pathogenic	1	241667443	241667443	A	C	criteria provided, single submitter	ClinGen:CA322414
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
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.820G>C (p.Ala274Pro)	FH	Likely pathogenic	1	241669387	241669387	C	G	criteria provided, single submitter	ClinGen:CA16609367