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
Deletion	NM_000143.4(FH):c.1293del (p.Glu432fs)	FH	Pathogenic	1	241663834	241663834	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA285325,OMIM:136850.0015
Deletion	NM_000143.4(FH):c.1446_1449del (p.Glu484fs)	FH	Pathogenic	1	241661212	241661215	CCTTT	C	criteria provided, single submitter	ClinGen:CA220380
single nucleotide variant	NM_000143.4(FH):c.320A>C (p.Asn107Thr)	FH	Pathogenic/Likely pathogenic	1	241676961	241676961	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257456,UniProtKB:P07954#VAR_013497,OMIM:136850.0004
single nucleotide variant	NM_000143.4(FH):c.560C>G (p.Ser187Ter)	FH	Pathogenic	1	241672081	241672081	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA220384
single nucleotide variant	NM_000143.4(FH):c.760C>T (p.Gln254Ter)	FH	Pathogenic	1	241669447	241669447	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA220387
single nucleotide variant	NM_000143.4(FH):c.952C>T (p.His318Tyr)	FH	Pathogenic/Likely pathogenic	1	241667498	241667498	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA285329
single nucleotide variant	NM_000143.4(FH):c.697C>T (p.Arg233Cys)	FH	Pathogenic	1	241671944	241671944	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA165194
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.1067T>A (p.Leu356Ter)	FH	Pathogenic/Likely pathogenic	1	241667383	241667383	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA233988