若年性ポリポーシス症候群

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_005359.6(SMAD4):c.153del (p.Asp52fs)	SMAD4	Pathogenic	18	48573564	48573564	GA	G	criteria provided, single submitter	ClinGen:CA10580972
Duplication	NM_005359.6(SMAD4):c.153dup (p.Asp52fs)	SMAD4	Pathogenic	18	48573563	48573564	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA197041
Deletion	NM_005359.6(SMAD4):c.69del (p.Met24fs)	SMAD4	Pathogenic	18	48573485	48573485	TG	T	criteria provided, single submitter	-
Deletion	NC_000018.9:g.(?_48573411)_(48604843_?)del	SMAD4	Pathogenic	18	48573411	48604843	na	na	criteria provided, single submitter	-
Deletion	NC_000018.10:g.(?_51030213)_(51078477_?)del	SMAD4	Pathogenic	18	48556583	48604847	na	na	criteria provided, single submitter	-
Deletion	NM_005359.5(SMAD4):c.(?_-538)_1139+?del	SMAD4	Pathogenic	18	48556583	48591976	na	na	criteria provided, single submitter	-