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.6596_6605del (p.Ile2199fs)	APC	Pathogenic	5	112177886	112177895	GATTACTGGAA	G	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.6862C>T (p.Gln2288Ter)	APC	Pathogenic	5	112178153	112178153	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.7069A>T (p.Lys2357Ter)	APC	Pathogenic	5	112178360	112178360	A	T	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.7432del (p.Gln2478fs)	APC	Pathogenic	5	112178721	112178721	TC	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.7489dup (p.Ser2497fs)	APC	Pathogenic/Likely pathogenic	5	112178778	112178779	A	AT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.7678C>T (p.Arg2560Ter)	APC	Pathogenic	5	112178969	112178969	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.7803_7807del (p.Ser2601fs)	APC	Pathogenic/Likely pathogenic	5	112179090	112179094	CAAAGT	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.146del (p.Pro49fs)	MSH3	Pathogenic	5	79950690	79950690	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002439.5(MSH3):c.316C>T (p.Gln106Ter)	MSH3	Pathogenic/Likely pathogenic	5	79952308	79952308	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002439.5(MSH3):c.460_461del (p.Glu154fs)	MSH3	Pathogenic	5	79961062	79961063	CAG	C	criteria provided, multiple submitters, no conflicts	-