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.1439C>G (p.Ser480Ter)	FH	Pathogenic	1	241661222	241661222	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA345450690
Duplication	NM_000143.4(FH):c.1430_1437dup (p.Ser480fs)	FH	Pathogenic	1	241661223	241661224	A	ATCCATTTT	criteria provided, multiple submitters, no conflicts	ClinGen:CA323758
single nucleotide variant	NM_000143.4(FH):c.1435G>T (p.Gly479Ter)	FH	Pathogenic	1	241661226	241661226	C	A	criteria provided, single submitter	-
Duplication	NM_000143.4(FH):c.1400dup (p.Ala468fs)	FH	Pathogenic	1	241661260	241661261	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA324743
single nucleotide variant	NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)	FH	Pathogenic/Likely pathogenic	1	241661267	241661267	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA321656
single nucleotide variant	NM_000143.4(FH):c.1391-1G>C	FH	Pathogenic	1	241661271	241661271	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA320963
single nucleotide variant	NM_000143.4(FH):c.1391-1G>A	FH	Pathogenic	1	241661271	241661271	C	T	criteria provided, single submitter	ClinGen:CA16610035
single nucleotide variant	NM_000143.4(FH):c.1391-2A>T	FH	Pathogenic	1	241661272	241661272	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA323468
Deletion	NM_000143.4(FH):c.1391-2del	FH	Likely pathogenic	1	241661272	241661272	CT	C	criteria provided, single submitter	ClinGen:CA16617113
single nucleotide variant	NM_000143.4(FH):c.1390+1G>T	FH	Pathogenic/Likely pathogenic	1	241663736	241663736	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588288,OMIM:136850.0013