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
single nucleotide variant	NM_000546.6(TP53):c.841G>A (p.Asp281Asn)	TP53	Pathogenic	17	7577097	7577097	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA001503
single nucleotide variant	NM_000546.6(TP53):c.809T>C (p.Phe270Ser)	TP53	Pathogenic/Likely pathogenic	17	7577129	7577129	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603016
single nucleotide variant	NM_000546.6(TP53):c.808T>G (p.Phe270Val)	TP53	Pathogenic	17	7577130	7577130	A	C	criteria provided, single submitter	ClinGen:CA16603020
single nucleotide variant	NM_000546.6(TP53):c.730G>A (p.Gly244Ser)	TP53	Pathogenic	17	7577551	7577551	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603022
single nucleotide variant	NM_000546.6(TP53):c.734G>T (p.Gly245Val)	TP53	Pathogenic	17	7577547	7577547	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA001743
single nucleotide variant	NM_000546.6(TP53):c.796G>C (p.Gly266Arg)	TP53	Pathogenic	17	7577142	7577142	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603026
single nucleotide variant	NM_000546.6(TP53):c.537T>G (p.His179Gln)	TP53	Pathogenic/Likely pathogenic	17	7578393	7578393	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603028
single nucleotide variant	NM_000546.6(TP53):c.578A>C (p.His193Pro)	TP53	Pathogenic	17	7578271	7578271	T	G	reviewed by expert panel	ClinGen:CA16603033
single nucleotide variant	NM_000546.6(TP53):c.641A>G (p.His214Arg)	TP53	Likely pathogenic	17	7578208	7578208	T	C	reviewed by expert panel	ClinGen:CA16040595
single nucleotide variant	NM_000546.6(TP53):c.396G>C (p.Lys132Asn)	TP53	Likely pathogenic	17	7578534	7578534	C	G	reviewed by expert panel	ClinGen:CA16603044