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.1112del (p.Lys371fs)	FH	Pathogenic	1	241665867	241665867	CT	C	criteria provided, single submitter	ClinGen:CA16610045
single nucleotide variant	NM_000143.4(FH):c.1052C>A (p.Ser351Ter)	FH	Pathogenic	1	241667398	241667398	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610049
single nucleotide variant	NM_000143.4(FH):c.1021G>A (p.Asp341Asn)	FH	Pathogenic/Likely pathogenic	1	241667429	241667429	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610053
single nucleotide variant	NM_000143.4(FH):c.738+2T>C	FH	Pathogenic/Likely pathogenic	1	241671901	241671901	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610056
single nucleotide variant	NM_000143.4(FH):c.267+1G>A	FH	Pathogenic	1	241680481	241680481	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610064
single nucleotide variant	NM_000143.4(FH):c.1157A>G (p.Gln386Arg)	FH	Pathogenic/Likely pathogenic	1	241665822	241665822	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610070
single nucleotide variant	NM_000143.4(FH):c.679C>T (p.Gln227Ter)	FH	Pathogenic	1	241671962	241671962	G	A	criteria provided, single submitter	ClinGen:CA16610075
single nucleotide variant	NM_000143.4(FH):c.204T>A (p.Tyr68Ter)	FH	Pathogenic	1	241680545	241680545	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610089
Deletion	NM_000143.4(FH):c.1347del (p.Met449fs)	FH	Pathogenic	1	241663780	241663780	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610100
single nucleotide variant	NM_000143.4(FH):c.823G>A (p.Gly275Arg)	FH	Pathogenic	1	241669384	241669384	C	T	criteria provided, single submitter	ClinGen:CA16610104