リ・フラウメニ症候群

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_000546.6(TP53):c.514_517dup (p.Val173fs)	TP53	Likely pathogenic	17	7578412	7578413	A	ACAAC	criteria provided, single submitter	-
Duplication	NM_000546.6(TP53):c.340_346dup (p.Ser116fs)	TP53	Pathogenic	17	7579340	7579341	G	GAATGCAA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000546.6(TP53):c.247_256del (p.Ala83fs)	TP53	Pathogenic	17	7579431	7579440	GCAGGGGCCGC	G	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.1077del (p.Ser362fs)	TP53	Pathogenic	17	7573950	7573950	CT	C	criteria provided, single submitter	OMIM:191170.0044
Deletion	NM_000546.6(TP53):c.1083del (p.Ser362fs)	TP53	Pathogenic	17	7573944	7573944	TC	T	criteria provided, multiple submitters, no conflicts	OMIM:191170.0043
Deletion	NC_000017.11:g.(?_7669599)_(7676604_?)del	TP53	Pathogenic	17	7572917	7579922	na	na	criteria provided, single submitter	-
Duplication	NM_000546.6(TP53):c.517_535dup (p.His179fs)	TP53	Pathogenic	17	7578394	7578395	T	TGGTGGGGGCAGCGCCTCAC	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.782+2_782+6del	TP53	Likely pathogenic	17	7577493	7577497	TCCTGA	T	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.702_714del (p.His233_Tyr234insTer)	TP53	Pathogenic	17	7577567	7577579	TACACATGTAGTTG	T	criteria provided, single submitter	-
Deletion	NM_000546.6(TP53):c.501del (p.Gln167fs)	TP53	Pathogenic	17	7578429	7578429	GC	G	criteria provided, multiple submitters, no conflicts	-