リ・フラウメニ症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.96+1G>T	TP53	Pathogenic/Likely pathogenic	17	7579699	7579699	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397848251
single nucleotide variant	NM_000546.6(TP53):c.96+1G>C	TP53	Pathogenic/Likely pathogenic	17	7579699	7579699	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA397848258
Duplication	NM_000546.6(TP53):c.96+2dup	TP53	Likely pathogenic	17	7579697	7579698	T	TA	criteria provided, single submitter	ClinGen:CA645369699
Deletion	NM_000546.6(TP53):c.86_96+4del	TP53	Pathogenic	17	7579696	7579710	CTTACCAGAACGTTGT	C	criteria provided, single submitter	ClinGen:CA645369698
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.97-2A>G	TP53	Pathogenic	17	7579592	7579592	T	C	criteria provided, single submitter	ClinGen:CA10584595
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.97-1G>A	TP53	Likely pathogenic	17	7579591	7579591	C	T	reviewed by expert panel	-
Duplication	NM_000546.6(TP53):c.97dup (p.Ser33fs)	TP53	Pathogenic	17	7579589	7579590	G	GA	criteria provided, single submitter	ClinGen:CA645369697
Deletion	NM_000546.6(TP53):c.112del (p.Gln38fs)	TP53	Pathogenic	17	7579575	7579575	TG	T	criteria provided, single submitter	ClinGen:CA645589425