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_001048174.2(MUTYH):c.420+19_420+31del	MUTYH	Pathogenic/Likely pathogenic	1	45798559	45798571	TCCTATTTCCCCTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA058004
Duplication	NM_001048174.2(MUTYH):c.1465_1466dup (p.Ser490fs)	MUTYH	Likely pathogenic	1	45795077	45795078	G	GCA	criteria provided, single submitter	ClinGen:CA16610168
single nucleotide variant	NM_001048174.2(MUTYH):c.1197G>A (p.Trp399Ter)	MUTYH	Pathogenic	1	45797134	45797134	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610172
single nucleotide variant	NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)	MUTYH	Pathogenic/Likely pathogenic	1	45797356	45797356	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610175
Deletion	NM_001048174.2(MUTYH):c.60del (p.Arg22fs)	MUTYH	Pathogenic	1	45800118	45800118	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610207
Deletion	NC_000005.10:g.(?_112737859)_(112815593_?)del	APC	Pathogenic	5	112073556	112151290	na	na	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.531+2dup	APC	Pathogenic	5	112111435	112111436	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611556
single nucleotide variant	NM_000038.6(APC):c.761C>G (p.Ser254Ter)	APC	Pathogenic	5	112137007	112137007	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16022997
Deletion	NM_000038.6(APC):c.1742del (p.Lys581fs)	APC	Pathogenic	5	112164664	112164664	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611575
single nucleotide variant	NM_000038.6(APC):c.2096G>A (p.Trp699Ter)	APC	Pathogenic	5	112173387	112173387	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16025907