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.473G>T (p.Arg158Leu)	TP53	Pathogenic	17	7578457	7578457	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA397842028
single nucleotide variant	NM_000546.6(TP53):c.375+2T>A	TP53	Pathogenic/Likely pathogenic	17	7579310	7579310	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397844133
Deletion	NM_000546.6(TP53):c.295del (p.Ser99fs)	TP53	Pathogenic	17	7579392	7579392	GA	G	criteria provided, single submitter	ClinGen:CA497925912
Deletion	NM_000546.6(TP53):c.155_156del (p.Gln52fs)	TP53	Pathogenic	17	7579531	7579532	ATT	A	criteria provided, single submitter	ClinGen:CA658798707
Indel	NM_000546.6(TP53):c.844_847delinsAG (p.Arg283fs)	TP53	Pathogenic	17	7577091	7577094	GCCG	CT	criteria provided, single submitter	ClinGen:CA658798705
Deletion	NM_000546.6(TP53):c.45del (p.Gln16fs)	TP53	Pathogenic	17	7579868	7579868	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798710
Deletion	NM_000546.6(TP53):c.86del (p.Asn29fs)	TP53	Pathogenic	17	7579710	7579710	GT	G	criteria provided, single submitter	ClinGen:CA658798708
single nucleotide variant	NM_000546.6(TP53):c.993+1G>A	TP53	Pathogenic/Likely pathogenic	17	7576852	7576852	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA397835645
Deletion	NM_000546.6(TP53):c.917_919+10del	TP53	Pathogenic/Likely pathogenic	17	7577009	7577021	TGCTTGCTTACCTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798699
Duplication	NM_000546.6(TP53):c.375+1dup	TP53	Pathogenic/Likely pathogenic	17	7579310	7579311	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658798706