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.376-2A>G	TP53	Pathogenic/Likely pathogenic	17	7578556	7578556	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA000146
single nucleotide variant	NM_000546.6(TP53):c.1025G>C (p.Arg342Pro)	TP53	Pathogenic/Likely pathogenic	17	7574002	7574002	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA337802,UniProtKB:P04637#VAR_045544
single nucleotide variant	NM_000546.6(TP53):c.973G>T (p.Gly325Ter)	TP53	Pathogenic	17	7576873	7576873	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA335679
single nucleotide variant	NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)	TP53	Pathogenic/Likely pathogenic	17	7577114	7577114	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA337141,UniProtKB:P04637#VAR_005998
single nucleotide variant	NM_000546.6(TP53):c.706T>C (p.Tyr236His)	TP53	Pathogenic	17	7577575	7577575	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA338059,UniProtKB:P04637#VAR_045192
single nucleotide variant	NM_000546.6(TP53):c.672+1G>A	TP53	Pathogenic/Likely pathogenic	17	7578176	7578176	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA339249
single nucleotide variant	NM_000546.6(TP53):c.374C>A (p.Thr125Lys)	TP53	Pathogenic/Likely pathogenic	17	7579313	7579313	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA337257,UniProtKB:P04637#VAR_044713
Deletion	NM_000546.6(TP53):c.636del (p.Arg213fs)	TP53	Pathogenic	17	7578213	7578213	GA	G	reviewed by expert panel	ClinGen:CA248848
single nucleotide variant	NM_000546.6(TP53):c.380C>G (p.Ser127Cys)	TP53	Pathogenic	17	7578550	7578550	G	C	criteria provided, single submitter	ClinGen:CA349567,UniProtKB:P04637#VAR_044720
single nucleotide variant	NM_000546.6(TP53):c.202G>T (p.Glu68Ter)	TP53	Pathogenic	17	7579485	7579485	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA353535