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.375G>C (p.Thr125=)	TP53	Pathogenic	17	7579312	7579312	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA497926317
Deletion	NM_000546.6(TP53):c.310_329del (p.Gln104fs)	TP53	Pathogenic	17	7579358	7579377	ACGGAAACCGTAGCTGCCCTG	A	criteria provided, single submitter	ClinGen:CA658656635
Duplication	NM_000546.6(TP53):c.121_124dup (p.Asp42delinsGlyTer)	TP53	Pathogenic	17	7579562	7579563	T	TCATC	criteria provided, single submitter	ClinGen:CA658656662
single nucleotide variant	NM_000546.6(TP53):c.994-2A>G	TP53	Pathogenic	17	7574035	7574035	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA287485766
single nucleotide variant	NM_000546.6(TP53):c.920-1G>T	TP53	Pathogenic	17	7576927	7576927	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397836174
Insertion	NM_000546.6(TP53):c.842_843insG (p.Asp281fs)	TP53	Pathogenic	17	7577095	7577096	G	GC	criteria provided, single submitter	ClinGen:CA658656538
single nucleotide variant	NM_000546.6(TP53):c.772G>T (p.Glu258Ter)	TP53	Pathogenic	17	7577509	7577509	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397837685
single nucleotide variant	NM_000546.6(TP53):c.532C>G (p.His178Asp)	TP53	Likely pathogenic	17	7578398	7578398	G	C	reviewed by expert panel	ClinGen:CA397841387
Deletion	NM_000546.6(TP53):c.509_512del (p.Thr170fs)	TP53	Pathogenic	17	7578418	7578421	CTCCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656581
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