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
Deletion	NC_000017.11:g.(?_7687606)_(7688293_?)del	TP53	Pathogenic	17	7590924	7591611	na	na	criteria provided, single submitter	-
Deletion	NM_000546.5(TP53):c.-202_-29+?del	TP53	Likely pathogenic	17	7590695	7590868	na	na	criteria provided, single submitter	-
Duplication	NM_000546.6(TP53):c.38dup (p.Leu14fs)	TP53	Pathogenic/Likely pathogenic	17	7579874	7579875	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656673
Deletion	NM_000546.6(TP53):c.45del (p.Gln16fs)	TP53	Pathogenic	17	7579868	7579868	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798710
Deletion	NM_000546.6(TP53):c.52del (p.Thr18fs)	TP53	Pathogenic	17	7579861	7579861	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580965
Deletion	NM_000546.6(TP53):c.58del (p.Ser20fs)	TP53	Pathogenic	17	7579855	7579855	GA	G	criteria provided, single submitter	ClinGen:CA645369693
single nucleotide variant	NM_000546.6(TP53):c.75-2A>G	TP53	Likely pathogenic	17	7579723	7579723	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA397848502
Indel	NM_000546.6(TP53):c.77_80delinsAAGAACGT (p.Leu26fs)	TP53	Pathogenic	17	7579716	7579719	GGAA	ACGTTCTT	criteria provided, single submitter	ClinGen:CA000409
Deletion	NM_000546.6(TP53):c.86del (p.Asn29fs)	TP53	Pathogenic	17	7579710	7579710	GT	G	criteria provided, single submitter	ClinGen:CA658798708
Insertion	NM_000546.6(TP53):c.90_91insA (p.Val31fs)	TP53	Pathogenic	17	7579705	7579706	C	CT	criteria provided, single submitter	ClinGen:CA645369700