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.301C>T (p.Arg101Ter)	FH	Pathogenic	1	241676980	241676980	G	A	criteria provided, multiple submitters, no conflicts	OMIM:136850.0003,ClinGen:CA167288
single nucleotide variant	NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	FH	Pathogenic	1	241667423	241667423	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA167294,OMIM:136850.0006
single nucleotide variant	NM_000143.4(FH):c.698G>A (p.Arg233His)	FH	Pathogenic	1	241671943	241671943	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257459,UniProtKB:P07954#VAR_013501,OMIM:136850.0007
single nucleotide variant	NM_000143.4(FH):c.698G>T (p.Arg233Leu)	FH	Pathogenic/Likely pathogenic	1	241671943	241671943	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257461,OMIM:136850.0008
single nucleotide variant	NM_000143.4(FH):c.302G>C (p.Arg101Pro)	FH	Pathogenic/Likely pathogenic	1	241676979	241676979	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA341389,OMIM:136850.0009
single nucleotide variant	NM_000143.4(FH):c.1020T>A (p.Asn340Lys)	FH	Pathogenic/Likely pathogenic	1	241667430	241667430	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA285319
single nucleotide variant	NM_000143.4(FH):c.1126C>T (p.Gln376Ter)	FH	Pathogenic/Likely pathogenic	1	241665853	241665853	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220373
Deletion	NM_000143.4(FH):c.1200del (p.Asn400fs)	FH	Pathogenic	1	241665779	241665779	CA	C	criteria provided, single submitter	ClinGen:CA220379
single nucleotide variant	NM_000143.4(FH):c.1255T>C (p.Ser419Pro)	FH	Pathogenic/Likely pathogenic	1	241663872	241663872	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA285322