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_000038.6(APC):c.422+2T>G	APC	Pathogenic/Likely pathogenic	5	112103089	112103089	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA360617477
Duplication	NM_000038.6(APC):c.1485dup (p.Thr496fs)	APC	Pathogenic	5	112162879	112162880	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369349
single nucleotide variant	NM_000038.6(APC):c.1886T>G (p.Leu629Ter)	APC	Pathogenic	5	112170790	112170790	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16025443
Duplication	NM_000038.6(APC):c.2036dup (p.Asn679fs)	APC	Pathogenic	5	112173325	112173326	T	TA	criteria provided, single submitter	ClinGen:CA645369357
Deletion	NM_000038.6(APC):c.2434_2437del (p.Asp812fs)	APC	Pathogenic	5	112173723	112173726	TCAGA	T	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.2802_2805del (p.Tyr935fs)	APC	Pathogenic	5	112174091	112174094	CACTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369362
Insertion	NM_000038.6(APC):c.2905_2906insC (p.Ser969fs)	APC	Pathogenic	5	112174196	112174197	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369367
Duplication	NM_000038.6(APC):c.4167dup (p.Val1390fs)	APC	Pathogenic	5	112175457	112175458	C	CT	criteria provided, single submitter	ClinGen:CA645369378
Deletion	NM_000038.6(APC):c.4319del (p.Pro1440fs)	APC	Pathogenic	5	112175609	112175609	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA445964472
Deletion	NM_000038.6(APC):c.4474del (p.Ala1492fs)	APC	Pathogenic	5	112175765	112175765	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA446206517