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.844C>T (p.Arg282Trp)	TP53	Pathogenic/Likely pathogenic	17	7577094	7577094	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000454,UniProtKB:P04637#VAR_006016,OMIM:191170.0018
single nucleotide variant	NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	TP53	Pathogenic	17	7577548	7577548	C	T	reviewed by expert panel	ClinGen:CA000367,UniProtKB:P04637#VAR_005974,OMIM:191170.0019
single nucleotide variant	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53	Pathogenic	17	7577120	7577120	C	T	reviewed by expert panel	ClinGen:CA000434,UniProtKB:P04637#VAR_005995,OMIM:191170.0020
single nucleotide variant	NM_000546.6(TP53):c.839G>C (p.Arg280Thr)	TP53	Pathogenic/Likely pathogenic	17	7577099	7577099	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000445,UniProtKB:P04637#VAR_006009,OMIM:191170.0024
single nucleotide variant	NM_000546.6(TP53):c.451C>A (p.Pro151Thr)	TP53	Pathogenic/Likely pathogenic	17	7578479	7578479	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000198,UniProtKB:P04637#VAR_005896,OMIM:191170.0025
single nucleotide variant	NM_000546.6(TP53):c.451C>T (p.Pro151Ser)	TP53	Pathogenic/Likely pathogenic	17	7578479	7578479	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA000200,UniProtKB:P04637#VAR_005895,OMIM:191170.0026
single nucleotide variant	NM_000546.6(TP53):c.524G>A (p.Arg175His)	TP53	Pathogenic	17	7578406	7578406	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA000251,UniProtKB:P04637#VAR_005932,OMIM:191170.0030
single nucleotide variant	NM_000546.6(TP53):c.1031T>C (p.Leu344Pro)	TP53	Likely pathogenic	17	7573996	7573996	A	G	reviewed by expert panel	ClinGen:CA000021,UniProtKB:P04637#VAR_045546,OMIM:191170.0031
single nucleotide variant	NM_000546.6(TP53):c.412G>C (p.Ala138Pro)	TP53	Pathogenic/Likely pathogenic	17	7578518	7578518	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA000166,UniProtKB:P04637#VAR_005881,OMIM:191170.0032
Deletion	NM_000546.6(TP53):c.532del (p.His178fs)	TP53	Pathogenic	17	7578398	7578398	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA278880,OMIM:191170.0033