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.372C>A (p.Cys124Ter)	TP53	Pathogenic	17	7579315	7579315	G	T	reviewed by expert panel	ClinGen:CA397844214
Duplication	NM_000546.6(TP53):c.156dup (p.Trp53fs)	TP53	Pathogenic	17	7579530	7579531	A	AT	criteria provided, single submitter	ClinGen:CA645589403
single nucleotide variant	NM_000546.6(TP53):c.1060C>T (p.Gln354Ter)	TP53	Likely pathogenic	17	7573967	7573967	G	A	criteria provided, single submitter	ClinGen:CA397832178
single nucleotide variant	NM_000546.6(TP53):c.796G>A (p.Gly266Arg)	TP53	Pathogenic	17	7577142	7577142	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397837142
single nucleotide variant	NM_000546.6(TP53):c.376-2A>T	TP53	Pathogenic/Likely pathogenic	17	7578556	7578556	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397843977
single nucleotide variant	NM_000546.6(TP53):c.737T>A (p.Met246Lys)	TP53	Likely pathogenic	17	7577544	7577544	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397839001
Deletion	NM_000546.6(TP53):c.655_670del (p.Pro219fs)	TP53	Pathogenic	17	7578179	7578194	TCAGGCGGCTCATAGGG	T	criteria provided, single submitter	ClinGen:CA658656530
single nucleotide variant	NM_000546.6(TP53):c.434T>A (p.Leu145Gln)	TP53	Pathogenic/Likely pathogenic	17	7578496	7578496	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397842430
Insertion	NM_000546.6(TP53):c.863_864insGGCACAGAGGAAGAGAA (p.Asn288fs)	TP53	Pathogenic	17	7577074	7577075	A	ATTCTCTTCCTCTGTGCC	criteria provided, single submitter	ClinGen:CA658656532
single nucleotide variant	NM_000546.6(TP53):c.825T>G (p.Cys275Trp)	TP53	Likely pathogenic	17	7577113	7577113	A	C	criteria provided, single submitter	ClinGen:CA397836936