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
Duplication	NM_000143.4(FH):c.5dup (p.Tyr2Ter)	FH	Pathogenic	1	241683017	241683018	G	GT	criteria provided, single submitter	-
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.127C>T (p.Arg43Ter)	FH	Pathogenic	1	241682896	241682896	G	A	criteria provided, single submitter	-
Deletion	NM_000143.4(FH):c.120_130del (p.Ala41fs)	FH	Pathogenic	1	241682893	241682903	ATTCGAGCCGCG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.132G>A (p.Met44Ile)	FH	Pathogenic	1	241682891	241682891	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA323363
Deletion	NC_000001.11:g.(?_241519585)_(241519728_?)del	FH	Pathogenic	1	241682885	241683028	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000143.4(FH):c.133-1G>A	FH	Pathogenic	1	241680617	241680617	C	T	criteria provided, single submitter	ClinGen:CA323663
Deletion	NM_000143.4(FH):c.134del (p.Ala45fs)	FH	Pathogenic	1	241680615	241680615	TG	T	criteria provided, single submitter	ClinGen:CA645369179
single nucleotide variant	NM_000143.4(FH):c.139C>T (p.Gln47Ter)	FH	Pathogenic	1	241680610	241680610	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA324825
single nucleotide variant	NM_000143.4(FH):c.152G>C (p.Arg51Pro)	FH	Likely pathogenic	1	241680597	241680597	C	G	criteria provided, single submitter	-