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
Deletion	NM_000038.6(APC):c.6053del (p.Pro2018fs)	APC	Pathogenic	5	112177341	112177341	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369384
Duplication	NM_000038.6(APC):c.1620dup (p.Gln541fs)	APC	Pathogenic	5	112163696	112163697	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369321
Deletion	NM_000038.6(APC):c.5803del (p.Gln1935fs)	APC	Pathogenic	5	112177091	112177091	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369382
Deletion	NM_001048174.2(MUTYH):c.775del (p.Ala259fs)	MUTYH	Pathogenic/Likely pathogenic	1	45797912	45797912	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA059378
single nucleotide variant	NM_000038.6(APC):c.203T>G (p.Leu68Ter)	APC	Pathogenic	5	112102090	112102090	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16021788
single nucleotide variant	NM_000038.6(APC):c.220+1G>A	APC	Pathogenic	5	112102108	112102108	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA360617465
Deletion	NM_000038.6(APC):c.458del (p.Lys153fs)	APC	Pathogenic	5	112111358	112111358	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372773
Deletion	NM_000038.6(APC):c.502del (p.Arg168fs)	APC	Pathogenic	5	112111402	112111402	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372776
single nucleotide variant	NM_000038.6(APC):c.539T>A (p.Leu180Ter)	APC	Pathogenic	5	112116494	112116494	T	A	criteria provided, single submitter	ClinGen:CA16022507
single nucleotide variant	NM_000038.6(APC):c.667C>T (p.Gln223Ter)	APC	Pathogenic	5	112128164	112128164	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16022794