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
single nucleotide variant	NM_001048174.2(MUTYH):c.1041T>A (p.Cys347Ter)	MUTYH	Pathogenic	1	45797394	45797394	A	T	criteria provided, single submitter	ClinGen:CA340133475
Deletion	NM_000038.6(APC):c.93del (p.Asn32fs)	APC	Pathogenic	5	112090679	112090679	TC	T	criteria provided, single submitter	ClinGen:CA645369346
Deletion	NM_000038.6(APC):c.104del (p.Thr35fs)	APC	Pathogenic	5	112090691	112090691	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369347
Duplication	NM_000038.6(APC):c.258dup (p.Leu87fs)	APC	Pathogenic	5	112102919	112102920	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369344
Indel	NM_000038.6(APC):c.497_499delinsTT (p.Thr166fs)	APC	Pathogenic	5	112111400	112111402	CTA	TT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369351
single nucleotide variant	NM_000038.6(APC):c.531+3A>C	APC	Pathogenic/Likely pathogenic	5	112111437	112111437	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369352
single nucleotide variant	NM_000038.6(APC):c.607C>T (p.Gln203Ter)	APC	Pathogenic	5	112116562	112116562	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16022667
Duplication	NM_000038.6(APC):c.723dup (p.Ala242fs)	APC	Pathogenic	5	112128218	112128219	G	GA	criteria provided, single submitter	ClinGen:CA645369317
Duplication	NM_000038.6(APC):c.762dup (p.His255fs)	APC	Pathogenic	5	112137007	112137008	C	CA	criteria provided, single submitter	ClinGen:CA645369360
single nucleotide variant	NM_000038.6(APC):c.1178C>G (p.Ser393Ter)	APC	Pathogenic	5	112154907	112154907	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16023886