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.742C>T (p.Arg248Trp)	TP53	Pathogenic	17	7577539	7577539	G	A	reviewed by expert panel	ClinGen:CA000382,UniProtKB:P04637#VAR_005984,OMIM:191170.0001
single nucleotide variant	NM_000546.6(TP53):c.772G>A (p.Glu258Lys)	TP53	Pathogenic/Likely pathogenic	17	7577509	7577509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000406,UniProtKB:P04637#VAR_005991,OMIM:191170.0002
single nucleotide variant	NM_000546.6(TP53):c.733G>T (p.Gly245Cys)	TP53	Pathogenic	17	7577548	7577548	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000369,UniProtKB:P04637#VAR_005972,OMIM:191170.0003
single nucleotide variant	NM_000546.6(TP53):c.747G>T (p.Arg249Ser)	TP53	Pathogenic/Likely pathogenic	17	7577534	7577534	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000392,UniProtKB:P04637#VAR_005986,OMIM:191170.0006
single nucleotide variant	NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)	TP53	Pathogenic	17	7577556	7577556	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000361,UniProtKB:P04637#VAR_045224,OMIM:191170.0008
single nucleotide variant	NM_000546.6(TP53):c.734G>A (p.Gly245Asp)	TP53	Pathogenic/Likely pathogenic	17	7577547	7577547	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000371,UniProtKB:P04637#VAR_005973,OMIM:191170.0009
single nucleotide variant	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53	Pathogenic	17	7577538	7577538	C	T	reviewed by expert panel	ClinGen:CA000387,UniProtKB:P04637#VAR_005983,OMIM:191170.0010
single nucleotide variant	NM_000546.6(TP53):c.398T>C (p.Met133Thr)	TP53	Pathogenic	17	7578532	7578532	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000158,UniProtKB:P04637#VAR_005875,OMIM:191170.0011
single nucleotide variant	NM_000546.6(TP53):c.814G>T (p.Val272Leu)	TP53	Likely pathogenic	17	7577124	7577124	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000430,UniProtKB:P04637#VAR_005992,OMIM:191170.0012
single nucleotide variant	NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	TP53	Pathogenic/Likely pathogenic	17	7577559	7577559	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000359,UniProtKB:P04637#VAR_005969,OMIM:191170.0013