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.739-2A>C	FH	Pathogenic	1	241669470	241669470	T	G	criteria provided, single submitter	ClinGen:CA345439135
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
single nucleotide variant	NM_000143.4(FH):c.653T>C (p.Leu218Pro)	FH	Pathogenic	1	241671988	241671988	A	G	criteria provided, single submitter	ClinGen:CA345439305
single nucleotide variant	NM_000143.4(FH):c.583A>G (p.Met195Val)	FH	Pathogenic/Likely pathogenic	1	241672058	241672058	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA345439454
single nucleotide variant	NM_000143.4(FH):c.905-1G>C	FH	Likely pathogenic	1	241667546	241667546	C	G	criteria provided, single submitter	ClinGen:CA345438437
Duplication	NM_000143.4(FH):c.237dup (p.Lys80Ter)	FH	Pathogenic	1	241680511	241680512	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657002
Deletion	NM_000143.4(FH):c.675del (p.Phe225fs)	FH	Pathogenic	1	241671966	241671966	CA	C	criteria provided, single submitter	ClinGen:CA658795656
Duplication	NM_000143.4(FH):c.221dup (p.Ser75fs)	FH	Pathogenic	1	241680527	241680528	T	TC	criteria provided, single submitter	ClinGen:CA658795648
Indel	NM_000143.4(FH):c.81delinsAT (p.Leu28fs)	FH	Likely pathogenic	1	241682942	241682942	G	AT	criteria provided, single submitter	ClinGen:CA658795650
single nucleotide variant	NM_000143.4(FH):c.999C>A (p.Cys333Ter)	FH	Pathogenic	1	241667451	241667451	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345438252