遺伝性平滑筋腫症−腎細胞がん症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.157G>T (p.Glu53Ter)	FH	Pathogenic	1	241680592	241680592	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609380
single nucleotide variant	NM_000143.4(FH):c.175G>T (p.Glu59Ter)	FH	Pathogenic	1	241680574	241680574	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000143.4(FH):c.174_177dup (p.Leu60Ter)	FH	Pathogenic	1	241680571	241680572	G	GTTCA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369175
Duplication	NM_000143.4(FH):c.185_188dup (p.Asn64fs)	FH	Pathogenic	1	241680560	241680561	T	TGGCA	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.201T>G (p.Tyr67Ter)	FH	Pathogenic	1	241680548	241680548	A	C	criteria provided, multiple submitters, no conflicts	-
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
Duplication	NM_000143.4(FH):c.221dup (p.Ser75fs)	FH	Pathogenic	1	241680527	241680528	T	TC	criteria provided, single submitter	ClinGen:CA658795648
Duplication	NM_000143.4(FH):c.237dup (p.Lys80Ter)	FH	Pathogenic	1	241680511	241680512	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657002
Duplication	NM_000143.4(FH):c.239dup (p.Ile81fs)	FH	Pathogenic	1	241680509	241680510	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609379
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