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.3391C>T (p.Gln1131Ter)	APC	Pathogenic	5	112174682	112174682	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582307
Deletion	NM_000038.6(APC):c.4701del (p.Asp1568fs)	APC	Pathogenic	5	112175992	112175992	CA	C	criteria provided, single submitter	ClinGen:CA10582317
single nucleotide variant	NM_000038.6(APC):c.4987G>T (p.Glu1663Ter)	APC	Pathogenic/Likely pathogenic	5	112176278	112176278	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582321
Duplication	NM_000038.6(APC):c.5025dup (p.Arg1676Ter)	APC	Pathogenic	5	112176314	112176315	G	GT	criteria provided, single submitter	ClinGen:CA10582322
Deletion	NM_000038.6(APC):c.5917del (p.Ser1973fs)	APC	Pathogenic	5	112177208	112177208	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582328
single nucleotide variant	NM_000038.6(APC):c.6610C>T (p.Arg2204Ter)	APC	Pathogenic/Likely pathogenic	5	112177901	112177901	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582333
single nucleotide variant	NM_001127511.3(APC):c.-191T>C	APC	Pathogenic/Likely pathogenic	5	112043224	112043224	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584052,OMIM:611731.0054
single nucleotide variant	NM_001127511.3(APC):c.-192A>G	APC	Likely pathogenic	5	112043223	112043223	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584053,OMIM:611731.0055
single nucleotide variant	NM_001127511.3(APC):c.-190G>A	APC	Pathogenic	5	112043225	112043225	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584055,OMIM:611731.0057
single nucleotide variant	NM_001127511.3(APC):c.-195A>C	APC	Pathogenic	5	112043220	112043220	A	C	criteria provided, single submitter	OMIM:611731.0053,ClinVar:243004