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.825del (p.Asn276fs)	APC	Pathogenic	5	112137071	112137071	GT	G	criteria provided, single submitter	ClinGen:CA658657480
Deletion	NM_000038.6(APC):c.1307del (p.Asn436fs)	APC	Pathogenic	5	112155032	112155032	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655919
Deletion	NM_000038.6(APC):c.1433del (p.Leu478fs)	APC	Pathogenic	5	112162828	112162828	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655936
Duplication	NM_000038.6(APC):c.2336dup (p.Leu779fs)	APC	Pathogenic	5	112173624	112173625	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655974
Deletion	NM_000038.6(APC):c.2612del (p.Gly871fs)	APC	Pathogenic	5	112173902	112173902	AG	A	criteria provided, single submitter	ClinGen:CA658655981
Deletion	NM_000038.6(APC):c.3164_3168del (p.Ile1055fs)	APC	Pathogenic	5	112174454	112174458	CATAAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645543555
single nucleotide variant	NM_000038.6(APC):c.2656C>T (p.Gln886Ter)	APC	Pathogenic	5	112173947	112173947	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16027131
Duplication	NM_000038.6(APC):c.3596dup (p.Ser1200fs)	APC	Pathogenic	5	112174884	112174885	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655916
Insertion	NM_000038.6(APC):c.4141_4142insGGTC (p.Pro1381fs)	APC	Pathogenic	5	112175431	112175432	C	CCGGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655933
single nucleotide variant	NM_000038.6(APC):c.4067C>G (p.Ser1356Ter)	APC	Pathogenic	5	112175358	112175358	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16030245