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.878del (p.Ser293fs)	APC	Pathogenic	5	112151235	112151235	AG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.974dup (p.His325fs)	APC	Pathogenic	5	112154702	112154703	C	CA	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.1059dup (p.Pro354fs)	APC	Pathogenic	5	112154786	112154787	C	CT	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.1177dup (p.Ser393fs)	APC	Pathogenic	5	112154905	112154906	C	CT	criteria provided, single submitter	-
Indel	NM_000038.6(APC):c.1241_1246delinsA (p.Arg414fs)	APC	Pathogenic	5	112154970	112154975	GCGCTT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.1323del (p.Val442fs)	APC	Pathogenic	5	112157603	112157603	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.1479C>A (p.Tyr493Ter)	APC	Pathogenic	5	112162875	112162875	C	A	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.1560del (p.Ser521fs)	APC	Pathogenic	5	112163637	112163637	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.1600A>T (p.Lys534Ter)	APC	Pathogenic	5	112163677	112163677	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.1626G>C (p.Gln542His)	APC	Likely pathogenic	5	112163703	112163703	G	C	reviewed by expert panel	-