家族性大腸腺腫症

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
Duplication	NM_000038.6(APC):c.3067dup (p.Thr1023fs)	APC	Pathogenic	5	112174357	112174358	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578349
single nucleotide variant	NM_000038.6(APC):c.3084T>A (p.Ser1028Arg)	APC	Likely pathogenic	5	112174375	112174375	T	A	reviewed by expert panel	ClinGen:CA10578350
single nucleotide variant	NM_000038.6(APC):c.3146G>A (p.Trp1049Ter)	APC	Pathogenic	5	112174437	112174437	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578351
single nucleotide variant	NM_000038.6(APC):c.3211C>T (p.Gln1071Ter)	APC	Pathogenic	5	112174502	112174502	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578352
Deletion	NM_000038.6(APC):c.3925_3928del (p.Glu1309fs)	APC	Pathogenic	5	112175213	112175216	AAAAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578360
Deletion	NM_000038.6(APC):c.4706_4707del (p.Asp1569fs)	APC	Pathogenic	5	112175997	112175998	GAT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578380
single nucleotide variant	NM_000038.6(APC):c.5038C>T (p.Gln1680Ter)	APC	Pathogenic/Likely pathogenic	5	112176329	112176329	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578390
Deletion	NM_000038.6(APC):c.5158del (p.Glu1720fs)	APC	Pathogenic	5	112176448	112176448	AG	A	criteria provided, single submitter	ClinGen:CA10578396
single nucleotide variant	NM_000038.6(APC):c.5944A>T (p.Lys1982Ter)	APC	Pathogenic	5	112177235	112177235	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578415
Deletion	NM_000038.6(APC):c.5973del (p.Glu1991fs)	APC	Pathogenic	5	112177264	112177264	AG	A	criteria provided, single submitter	ClinGen:CA10578416