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
Insertion	NM_000546.6(TP53):c.90_91insA (p.Val31fs)	TP53	Pathogenic	17	7579705	7579706	C	CT	criteria provided, single submitter	ClinGen:CA645369700
Duplication	NM_000546.6(TP53):c.416_420dup (p.Cys141fs)	TP53	Pathogenic	17	7578509	7578510	A	AGGTCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509496
Duplication	NM_000546.5(TP53):c.2588dup	TP53	Pathogenic	17	7571520	7571521	T	TC	criteria provided, single submitter	ClinGen:CA645372603
Indel	NM_000546.6(TP53):c.741_742delinsTT (p.Arg248Trp)	TP53	Likely pathogenic	17	7577539	7577540	GG	AA	criteria provided, single submitter	ClinGen:CA645373070
single nucleotide variant	NM_000546.6(TP53):c.1015G>T (p.Glu339Ter)	TP53	Pathogenic	17	7574012	7574012	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397832685
single nucleotide variant	NM_000546.6(TP53):c.375+2T>C	TP53	Pathogenic/Likely pathogenic	17	7579310	7579310	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397844132
single nucleotide variant	NM_000546.6(TP53):c.949C>T (p.Gln317Ter)	TP53	Pathogenic/Likely pathogenic	17	7576897	7576897	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397835973
single nucleotide variant	NM_000546.6(TP53):c.596G>T (p.Gly199Val)	TP53	Likely pathogenic	17	7578253	7578253	C	A	criteria provided, single submitter	ClinGen:CA397840476
single nucleotide variant	NM_000546.6(TP53):c.128T>A (p.Leu43Ter)	TP53	Likely pathogenic	17	7579559	7579559	A	T	criteria provided, single submitter	ClinGen:CA397846898
Deletion	NC_000017.11:g.(?_7669603)_(7670721_?)del	TP53	Likely pathogenic	17	7572921	7574039	na	na	criteria provided, single submitter	-