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
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.1097G>A (p.Ser366Asn)	FH	Pathogenic/Likely pathogenic	1	241667353	241667353	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA325181
single nucleotide variant	NM_000143.4(FH):c.1093A>G (p.Ser365Gly)	FH	Pathogenic	1	241667357	241667357	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA320604
Deletion	NM_000143.4(FH):c.1083_1086del (p.Glu362fs)	FH	Pathogenic/Likely pathogenic	1	241667364	241667367	GTTCA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA320623
Duplication	NM_000143.4(FH):c.1056dup (p.Leu353fs)	FH	Pathogenic	1	241667393	241667394	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA322151
single nucleotide variant	NM_000143.4(FH):c.1023T>G (p.Asp341Glu)	FH	Pathogenic	1	241667427	241667427	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA319914
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.947C>A (p.Ala316Asp)	FH	Pathogenic/Likely pathogenic	1	241667503	241667503	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA324246
single nucleotide variant	NM_000143.4(FH):c.937G>T (p.Glu313Ter)	FH	Pathogenic	1	241667513	241667513	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA321156
single nucleotide variant	NM_000143.4(FH):c.934T>C (p.Phe312Leu)	FH	Pathogenic/Likely pathogenic	1	241667516	241667516	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA322251