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_002439.5(MSH3):c.1341-2A>C	MSH3	Likely pathogenic	5	80021270	80021270	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_002439.5(MSH3):c.358+2T>G	MSH3	Likely pathogenic	5	79952352	79952352	T	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000005.10:g.(?_80775684)_(80775768_?)del	MSH3	Pathogenic	5	80071503	80071587	na	na	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_112775619)_(112801393_?)del	APC	Pathogenic	5	112111316	112137090	na	na	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_112707312)_(112844126_?)del	APC	Pathogenic	5	112043009	112179823	na	na	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_80654718)_(80679103_?)del	MSH3	Pathogenic	5	79950537	79974922	na	na	criteria provided, single submitter	-
Indel	NM_000038.6(APC):c.1744-6_1744-4delinsAG	APC	Pathogenic	5	112170642	112170644	TAC	AG	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.1627-2A>G	APC	Likely pathogenic	5	112164551	112164551	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.532-2A>C	APC	Pathogenic	5	112116485	112116485	A	C	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_112827098)_(112844136_?)del	APC	Pathogenic	5	112162795	112179833	na	na	criteria provided, single submitter	-