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
Duplication	NM_001127510.3(APC):c.1917dup (p.Arg640fs)	APC	Likely pathogenic	5	112170820	112170821	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA006371
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_001048174.2(MUTYH):c.1392_1392+6del	MUTYH	Likely pathogenic	1	45796848	45796854	GTAGTGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346797
single nucleotide variant	NM_001048174.2(MUTYH):c.421-2A>C	MUTYH	Likely pathogenic	1	45798508	45798508	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013693
single nucleotide variant	NM_000038.6(APC):c.645+2T>G	APC	Likely pathogenic	5	112116602	112116602	T	G	criteria provided, single submitter	ClinGen:CA011369
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_000038.6(APC):c.645+1G>A	APC	Likely pathogenic	5	112116601	112116601	G	A	reviewed by expert panel	ClinGen:CA279701
single nucleotide variant	NM_000038.6(APC):c.1549-1G>A	APC	Likely pathogenic	5	112163625	112163625	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279777
single nucleotide variant	NM_001048174.2(MUTYH):c.1434+1G>T	MUTYH	Likely pathogenic	1	45796187	45796187	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577697
single nucleotide variant	NM_001048174.2(MUTYH):c.1240-1G>T	MUTYH	Likely pathogenic	1	45797007	45797007	C	A	criteria provided, single submitter	ClinGen:CA10577706