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	NC_000001.11:g.(?_241505993)_(241506178_?)del	FH	Pathogenic	1	241669293	241669478	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_241519585)_(241519728_?)del	FH	Pathogenic	1	241682885	241683028	na	na	criteria provided, single submitter	-
Duplication	NM_000143.4(FH):c.443dup (p.Thr149fs)	FH	Pathogenic	1	241675378	241675379	C	CT	criteria provided, single submitter	-
Deletion	NM_000143.4(FH):c.1028del (p.Arg343fs)	FH	Pathogenic	1	241667422	241667422	TC	T	criteria provided, single submitter	ClinGen:CA658795653
single nucleotide variant	NM_000143.4(FH):c.1236+1G>A	FH	Pathogenic	1	241665742	241665742	C	T	criteria provided, single submitter	ClinGen:CA345437207
Deletion	NM_000143.4(FH):c.919del (p.Thr307fs)	FH	Pathogenic	1	241667531	241667531	GT	G	criteria provided, single submitter	ClinGen:CA658795655
single nucleotide variant	NM_000143.4(FH):c.935T>G (p.Phe312Cys)	FH	Likely pathogenic	1	241667515	241667515	A	C	criteria provided, single submitter	ClinGen:CA345438376
single nucleotide variant	NM_000143.4(FH):c.977G>A (p.Gly326Glu)	FH	Likely pathogenic	1	241667473	241667473	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA345438297
Duplication	NM_000143.4(FH):c.991dup (p.Thr331fs)	FH	Pathogenic	1	241667458	241667459	G	GT	criteria provided, single submitter	ClinGen:CA658795654
Deletion	NM_000143.4(FH):c.1082del (p.Asn361fs)	FH	Pathogenic	1	241667368	241667368	AT	A	criteria provided, single submitter	ClinGen:CA658795652