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.97-11C>G	TP53	Pathogenic	17	7579601	7579601	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.559+1G>T	TP53	Pathogenic/Likely pathogenic	17	7578370	7578370	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_7687606)_(7688293_?)del	TP53	Pathogenic	17	7590924	7591611	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_7669599)_(7688293_?)del	TP53	Pathogenic	17	7572917	7591611	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000546.6(TP53):c.97-1G>T	TP53	Pathogenic/Likely pathogenic	17	7579591	7579591	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.375+1G>C	TP53	Pathogenic/Likely pathogenic	17	7579311	7579311	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000546.6(TP53):c.97-1G>A	TP53	Likely pathogenic	17	7579591	7579591	C	T	reviewed by expert panel	-
Deletion	NM_000546.6(TP53):c.917_919+15del	TP53	Pathogenic	17	7577004	7577021	TGTCCTGCTTGCTTACCTC	T	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_7669599)_(8382320_?)del	TP53	Pathogenic	17	7572917	8285638	na	na	criteria provided, single submitter	-
Duplication	NM_000546.6(TP53):c.196dup (p.Met66fs)	TP53	Pathogenic	17	7579490	7579491	A	AT	criteria provided, single submitter	-