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.4666del (p.Thr1556fs)	APC	Pathogenic	5	112175952	112175952	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA009675
Deletion	NM_000038.6(APC):c.3814del (p.Ser1272fs)	APC	Pathogenic	5	112175101	112175101	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008688
single nucleotide variant	NM_000038.6(APC):c.1744-2A>G	APC	Pathogenic	5	112170646	112170646	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA005882
single nucleotide variant	NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)	MUTYH	Pathogenic	1	45797348	45797348	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA012199
Deletion	NM_000038.6(APC):c.4255del (p.Ser1419fs)	APC	Likely pathogenic	5	112175545	112175545	TA	T	criteria provided, single submitter	ClinGen:CA009405
Deletion	NM_000038.4(APC):c.(?_1)_(8477_?)del	APC	Pathogenic	5	112090588	112179768	na	na	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.477del (p.Tyr158_Tyr159insTer)	APC	Pathogenic	5	112111380	112111380	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009748
single nucleotide variant	NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)	MUTYH	Pathogenic/Likely pathogenic	1	45797914	45797914	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014470
single nucleotide variant	NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)	MUTYH	Pathogenic	1	45798466	45798466	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013795
single nucleotide variant	NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg)	MUTYH	Pathogenic/Likely pathogenic	1	45798840	45798840	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013507