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.737del (p.Gln246fs)	FH	Pathogenic	1	241671904	241671904	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA233991
Deletion	NM_000143.4(FH):c.786_806del (p.Lys263_Ile269del)	FH	Pathogenic/Likely pathogenic	1	241669401	241669421	GATTCTTGGCATGGCAGCTTTT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA192112
single nucleotide variant	NM_000143.4(FH):c.700A>G (p.Thr234Ala)	FH	Pathogenic/Likely pathogenic	1	241671941	241671941	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA189288
single nucleotide variant	NM_000143.4(FH):c.556-1G>C	FH	Pathogenic	1	241672086	241672086	C	G	criteria provided, single submitter	ClinGen:CA275293
Deletion	NM_000143.4(FH):c.912_918del (p.Phe305fs)	FH	Pathogenic	1	241667532	241667538	TGACAAAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA275378
single nucleotide variant	NM_000143.4(FH):c.1210G>T (p.Glu404Ter)	FH	Pathogenic	1	241665769	241665769	C	A	criteria provided, single submitter	ClinGen:CA347361
single nucleotide variant	NM_000143.4(FH):c.905-1G>A	FH	Pathogenic/Likely pathogenic	1	241667546	241667546	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347392
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
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