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.834+1G>A	APC	Pathogenic	5	112137081	112137081	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA360618290
Deletion	NM_000038.6(APC):c.6281_6282del (p.Pro2094fs)	APC	Pathogenic/Likely pathogenic	5	112177572	112177573	CCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645509162
single nucleotide variant	NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp)	MUTYH	Pathogenic/Likely pathogenic	1	45797951	45797951	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA059263
single nucleotide variant	NM_000038.6(APC):c.1263G>A (p.Trp421Ter)	APC	Pathogenic	5	112154992	112154992	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16024066
Deletion	NM_000038.6(APC):c.1409-2_1409del	APC	Pathogenic/Likely pathogenic	5	112162803	112162805	TAGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658655934
single nucleotide variant	NM_000038.6(APC):c.2077A>T (p.Lys693Ter)	APC	Pathogenic	5	112173368	112173368	A	T	criteria provided, single submitter	ClinGen:CA16025863
single nucleotide variant	NM_000038.6(APC):c.4033G>T (p.Glu1345Ter)	APC	Pathogenic	5	112175324	112175324	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16030172
single nucleotide variant	NM_000038.6(APC):c.4585C>T (p.Gln1529Ter)	APC	Pathogenic	5	112175876	112175876	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16031371
single nucleotide variant	NM_000038.6(APC):c.4831C>T (p.Gln1611Ter)	APC	Pathogenic/Likely pathogenic	5	112176122	112176122	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16031917
Deletion	NC_000001.11:g.(?_45329300)_(45330563_?)del	MUTYH	Likely pathogenic	1	45794972	45796235	na	na	criteria provided, single submitter	-