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.4638_4639del (p.Asn1546fs)	APC	Pathogenic/Likely pathogenic	5	112175929	112175930	ATG	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.636dup (p.Arg213fs)	APC	Pathogenic	5	112116586	112116587	G	GA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.1643dup (p.Leu548fs)	APC	Likely pathogenic	5	112164565	112164566	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.5570C>A (p.Ser1857Ter)	APC	Likely pathogenic	5	112176861	112176861	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	NTHL1	Pathogenic/Likely pathogenic	16	2090005	2090005	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000038.6(APC):c.1341T>A (p.Cys447Ter)	APC	Pathogenic/Likely pathogenic	5	112157621	112157621	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)	MUTYH	Pathogenic/Likely pathogenic	1	45799095	45799095	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001048174.2(MUTYH):c.210del (p.Ser71fs)	MUTYH	Pathogenic	1	45799139	45799139	TC	T	criteria provided, multiple submitters, no conflicts	-
Insertion	NM_000038.6(APC):c.26_27insTTTA (p.Leu9fs)	APC	Pathogenic	5	112090613	112090614	T	TTTTA	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.2390dup (p.Gly797_Asp798insTer)	APC	Pathogenic	5	112173679	112173680	T	TG	criteria provided, single submitter	-