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.1531G>T (p.Gly511Ter)	APC	Pathogenic	5	112162927	112162927	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578317
single nucleotide variant	NM_000038.6(APC):c.1626+2T>G	APC	Likely pathogenic	5	112163705	112163705	T	G	reviewed by expert panel	ClinGen:CA10578321
Deletion	NM_000038.6(APC):c.1654_1658del (p.Ser552fs)	APC	Pathogenic	5	112164577	112164581	TTTGTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578322
single nucleotide variant	NM_000038.6(APC):c.1743+1G>T	APC	Likely pathogenic	5	112164670	112164670	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578324
single nucleotide variant	NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)	APC	Pathogenic	5	112170770	112170770	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578327
single nucleotide variant	NM_000038.6(APC):c.1873C>T (p.Gln625Ter)	APC	Pathogenic	5	112170777	112170777	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578329
single nucleotide variant	NM_000038.6(APC):c.1959-2A>G	APC	Likely pathogenic	5	112173248	112173248	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578331
single nucleotide variant	NM_000038.6(APC):c.1999C>T (p.Gln667Ter)	APC	Pathogenic	5	112173290	112173290	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578333
Deletion	NM_000038.6(APC):c.2570del (p.Gly857fs)	APC	Pathogenic	5	112173860	112173860	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578342
Deletion	NM_000038.6(APC):c.2879_2883del (p.Ser959_Ser960insTer)	APC	Pathogenic	5	112174169	112174173	TTCAAA	T	criteria provided, single submitter	ClinGen:CA10578345