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.1262G>A (p.Trp421Ter)	APC	Pathogenic	5	112154991	112154991	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA004112
single nucleotide variant	NM_000038.6(APC):c.3830T>G (p.Leu1277Ter)	APC	Pathogenic	5	112175121	112175121	T	G	criteria provided, single submitter	ClinGen:CA008704
single nucleotide variant	NM_000038.6(APC):c.4175C>A (p.Ser1392Ter)	APC	Pathogenic	5	112175466	112175466	C	A	criteria provided, single submitter	ClinGen:CA008927
single nucleotide variant	NM_000038.6(APC):c.4348C>T (p.Arg1450Ter)	APC	Pathogenic	5	112175639	112175639	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009465
single nucleotide variant	NM_001048174.2(MUTYH):c.1390A>T (p.Lys464Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45796856	45796856	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA338021
Deletion	NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs)	MUTYH	Pathogenic/Likely pathogenic	1	45797191	45797201	AGGTCACGGACG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA336859
single nucleotide variant	NM_001048174.2(MUTYH):c.420+2T>G	MUTYH	Likely pathogenic	1	45798588	45798588	A	C	criteria provided, single submitter	ClinGen:CA336154
single nucleotide variant	NM_001048174.2(MUTYH):c.305-2A>G	MUTYH	Pathogenic/Likely pathogenic	1	45798844	45798844	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA337713
Deletion	NM_000038.5(APC):c.1409-?_*(1_?)del	APC	Pathogenic	5	112162805	112179824	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.423G>T (p.Arg141Ser)	APC	Pathogenic	5	112111326	112111326	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA338613