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.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.353del (p.Asn118fs)	FH	Pathogenic	1	241676928	241676928	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000143.4(FH):c.378+2T>C	FH	Likely pathogenic	1	241676901	241676901	A	G	criteria provided, single submitter	ClinGen:CA345440402
single nucleotide variant	NM_000143.4(FH):c.379-2A>G	FH	Pathogenic	1	241675445	241675445	T	C	criteria provided, single submitter	ClinGen:CA345440239
single nucleotide variant	NM_000143.4(FH):c.379-1G>A	FH	Pathogenic	1	241675444	241675444	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345440237
Deletion	NM_000143.4(FH):c.395del (p.Lys131_Leu132insTer)	FH	Pathogenic	1	241675427	241675427	TA	T	criteria provided, single submitter	ClinGen:CA16609376
Deletion	NM_000143.4(FH):c.418del (p.Val140fs)	FH	Pathogenic	1	241675404	241675404	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.424C>T (p.Gln142Ter)	FH	Pathogenic	1	241675398	241675398	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.439A>G (p.Thr147Ala)	FH	Pathogenic/Likely pathogenic	1	241675383	241675383	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA322337
Duplication	NM_000143.4(FH):c.439dup (p.Thr147fs)	FH	Pathogenic	1	241675382	241675383	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609374