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.476dup (p.Tyr159Ter)	APC	Pathogenic/Likely pathogenic	5	112111378	112111379	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582277
Duplication	NM_000038.6(APC):c.595dup (p.Ala199fs)	APC	Pathogenic	5	112116549	112116550	T	TG	criteria provided, single submitter	ClinGen:CA10582279
single nucleotide variant	NM_000038.6(APC):c.1743+1G>A	APC	Pathogenic/Likely pathogenic	5	112164670	112164670	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA029187
Indel	NM_000038.6(APC):c.1866_1867delinsAT (p.Tyr622_Arg623delinsTer)	APC	Pathogenic	5	112170770	112170771	CC	AT	criteria provided, single submitter	ClinGen:CA10582290
Deletion	NM_000038.6(APC):c.1875_1878del (p.Asn627fs)	APC	Pathogenic	5	112170777	112170780	CCAGA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582291
Deletion	NM_000038.6(APC):c.2031_2034del (p.Ser678fs)	APC	Pathogenic	5	112173319	112173322	TAGTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582292
Deletion	NM_000038.6(APC):c.2314del (p.Thr772fs)	APC	Pathogenic	5	112173603	112173603	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582296
single nucleotide variant	NM_000038.6(APC):c.2795C>G (p.Ser932Ter)	APC	Pathogenic	5	112174086	112174086	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582301
Deletion	NM_000038.6(APC):c.3196del (p.Arg1066fs)	APC	Pathogenic	5	112174485	112174485	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582305
single nucleotide variant	NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)	APC	Pathogenic	5	112174631	112174631	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582306