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.6542_6545del (p.Ile2181fs)	APC	Likely pathogenic	5	112177830	112177833	AAGAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509164
single nucleotide variant	NM_000038.6(APC):c.6496C>T (p.Arg2166Ter)	APC	Pathogenic	5	112177787	112177787	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16035547
single nucleotide variant	NM_000038.6(APC):c.6395C>G (p.Ser2132Ter)	APC	Pathogenic	5	112177686	112177686	C	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.6390_6391del (p.Asp2131fs)	APC	Pathogenic	5	112177681	112177682	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655997
Deletion	NM_000038.6(APC):c.6383del (p.Ala2128fs)	APC	Pathogenic	5	112177674	112177674	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011140
Deletion	NM_000038.6(APC):c.6381del (p.Ala2128fs)	APC	Pathogenic	5	112177671	112177671	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796582
single nucleotide variant	NM_000038.6(APC):c.6371T>A (p.Leu2124Ter)	APC	Pathogenic/Likely pathogenic	5	112177662	112177662	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16035281
Deletion	NM_000038.6(APC):c.6373_6376del (p.Ser2125fs)	APC	Pathogenic	5	112177662	112177665	TTATC	T	criteria provided, single submitter	ClinGen:CA011114
single nucleotide variant	NM_000038.6(APC):c.6344T>G (p.Leu2115Ter)	APC	Pathogenic	5	112177635	112177635	T	G	criteria provided, single submitter	ClinGen:CA10578427
single nucleotide variant	NM_000038.6(APC):c.6287C>G (p.Ser2096Ter)	APC	Likely pathogenic	5	112177578	112177578	C	G	criteria provided, single submitter	-