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.2686_2689dup (p.Ile897fs)	APC	Pathogenic	5	112173974	112173975	T	TCAGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645562853
Indel	NM_000038.6(APC):c.2790_2791delinsGTGT (p.His931fs)	APC	Pathogenic	5	112174081	112174082	AC	GTGT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655990
Deletion	NM_000038.6(APC):c.2863del (p.Glu955fs)	APC	Pathogenic	5	112174154	112174154	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655996
single nucleotide variant	NM_000038.6(APC):c.3306C>G (p.Tyr1102Ter)	APC	Pathogenic	5	112174597	112174597	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16028590
single nucleotide variant	NM_000038.6(APC):c.3316G>T (p.Gly1106Ter)	APC	Pathogenic	5	112174607	112174607	G	T	criteria provided, single submitter	ClinGen:CA16028608
single nucleotide variant	NM_000038.6(APC):c.3880C>T (p.Gln1294Ter)	APC	Pathogenic	5	112175171	112175171	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16029846
single nucleotide variant	NM_000038.6(APC):c.5341C>T (p.Gln1781Ter)	APC	Pathogenic	5	112176632	112176632	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16033005
Insertion	NM_000038.6(APC):c.5827_5828insAA (p.Arg1943fs)	APC	Pathogenic	5	112177117	112177118	C	CAA	criteria provided, single submitter	ClinGen:CA658655979
single nucleotide variant	NM_000038.6(APC):c.948T>G (p.Tyr316Ter)	APC	Pathogenic	5	112154677	112154677	T	G	criteria provided, single submitter	ClinGen:CA16023385
Duplication	NC_000005.9:g.(?_112072721)_(112111440_?)dup	APC	Likely pathogenic	5	112072721	112111440	na	na	criteria provided, single submitter	-