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.5718del (p.Ala1907fs)	APC	Likely pathogenic	5	112177009	112177009	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796578
Duplication	NM_000038.6(APC):c.5585dup (p.Leu1862fs)	APC	Pathogenic/Likely pathogenic	5	112176873	112176874	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796576
Deletion	NC_000001.11:g.(?_45332568)_(45334517_?)del	MUTYH	Pathogenic	1	45798240	45800189	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_45329300)_(45333609_?)del	MUTYH	Pathogenic	1	45794972	45799281	na	na	criteria provided, single submitter	-
Duplication	NC_000001.10:g.(?_45800057)_(45800189_?)dup	MUTYH	Likely pathogenic	1	45800057	45800189	na	na	criteria provided, single submitter	-
Deletion	NM_001048174.2(MUTYH):c.940_962del (p.Cys314fs)	MUTYH	Pathogenic	1	45797473	45797495	CCAGGGCTCCGAGGGAGGCAGGCA	C	criteria provided, single submitter	ClinGen:CA658795451
Indel	NM_001048174.2(MUTYH):c.725delinsAG (p.Val242fs)	MUTYH	Pathogenic	1	45797962	45797962	A	CT	criteria provided, single submitter	ClinGen:CA658795452
Deletion	NM_001048174.2(MUTYH):c.1196_1205del (p.Trp399fs)	MUTYH	Pathogenic	1	45797126	45797135	GGGCCCAGCCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372119
Deletion	NC_000005.10:g.(?_112834945)_(112835171_?)del	APC	Pathogenic	5	112170642	112170868	na	na	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.2415dup (p.His806fs)	APC	Pathogenic	5	112173705	112173706	G	GA	criteria provided, single submitter	ClinGen:CA658796574