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_004329.3(BMPR1A):c.674del (p.Leu225fs)	BMPR1A	Pathogenic	10	88672139	88672139	AT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000018.10:g.(?_51030213)_(51078477_?)del	SMAD4	Pathogenic	18	48556583	48604847	na	na	criteria provided, single submitter	-
Duplication	NM_005359.6(SMAD4):c.939dup (p.Ile314fs)	SMAD4	Pathogenic	18	48586267	48586268	T	TC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_005359.6(SMAD4):c.1343_1367del (p.Gln448fs)	SMAD4	Pathogenic	18	48603040	48603064	TGCAGCAGCAGGCGGCTACTGCACAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1572G>A (p.Trp524Ter)	SMAD4	Pathogenic	18	48604750	48604750	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter)	SMAD4	Pathogenic	18	48581281	48581281	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000018.10:g.(?_51076628)_(51078477_?)del	SMAD4	Pathogenic	18	48602998	48604847	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1140-2A>C	SMAD4	Likely pathogenic	18	48593387	48593387	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1612G>T (p.Glu538Ter)	SMAD4	Likely pathogenic	18	48604790	48604790	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88649927	88649927	T	A	criteria provided, multiple submitters, no conflicts	-