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.3734dup (p.Ala1246fs)	APC	Pathogenic	5	112175021	112175022	C	CA	criteria provided, single submitter	ClinGen:CA445963988
Deletion	NM_000038.6(APC):c.3749_3750del (p.Lys1250fs)	APC	Pathogenic	5	112175039	112175040	CAA	C	criteria provided, single submitter	ClinGen:CA645369373
Deletion	NM_000038.6(APC):c.3757del (p.Ser1253fs)	APC	Pathogenic	5	112175047	112175047	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369368
Duplication	NM_000038.6(APC):c.3994dup (p.Thr1332fs)	APC	Pathogenic	5	112175283	112175284	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369374
single nucleotide variant	NM_000038.6(APC):c.4031C>G (p.Ser1344Ter)	APC	Pathogenic	5	112175322	112175322	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16030168
Deletion	NM_000038.6(APC):c.4054del (p.Val1352fs)	APC	Pathogenic	5	112175345	112175345	TG	T	criteria provided, single submitter	ClinGen:CA645369377
single nucleotide variant	NM_000038.6(APC):c.4057G>T (p.Glu1353Ter)	APC	Pathogenic	5	112175348	112175348	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16030222
Deletion	NM_000038.6(APC):c.4463del (p.Leu1488fs)	APC	Pathogenic	5	112175752	112175752	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA446206502
single nucleotide variant	NM_000038.6(APC):c.4549C>T (p.Gln1517Ter)	APC	Pathogenic	5	112175840	112175840	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16031287
Indel	NM_000038.6(APC):c.4643_4645delinsT (p.Asn1548fs)	APC	Pathogenic	5	112175934	112175936	ACC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369380