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
single nucleotide variant	NM_004329.3(BMPR1A):c.3G>C (p.Met1Ile)	BMPR1A	Pathogenic/Likely pathogenic	10	88635778	88635778	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA353511
Duplication	NM_004329.3(BMPR1A):c.286_289dup (p.Ala97fs)	BMPR1A	Pathogenic	10	88651938	88651939	A	ATTAG	criteria provided, single submitter	ClinGen:CA353504
Deletion	NM_005359.5(SMAD4):c.(?_-538)_1139+?del	SMAD4	Pathogenic	18	48556583	48591976	na	na	criteria provided, single submitter	-
Deletion	NM_005359.6(SMAD4):c.886_895del (p.Pro296fs)	SMAD4	Pathogenic	18	48584805	48584814	GCCGCCCCATC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA353499
single nucleotide variant	NM_004329.3(BMPR1A):c.246C>A (p.Cys82Ter)	BMPR1A	Pathogenic	10	88651899	88651899	C	A	criteria provided, single submitter	ClinGen:CA10578874
single nucleotide variant	NM_004329.3(BMPR1A):c.309T>G (p.Tyr103Ter)	BMPR1A	Pathogenic	10	88651962	88651962	T	G	criteria provided, single submitter	ClinGen:CA10578876
Duplication	NM_004329.3(BMPR1A):c.405dup (p.Pro136fs)	BMPR1A	Pathogenic	10	88659620	88659621	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578878
Indel	NM_004329.3(BMPR1A):c.884delinsGTTCATAGCGG (p.Asp295delinsGlySerTer)	BMPR1A	Pathogenic	10	88678944	88678944	A	GTTCATAGCGG	criteria provided, single submitter	ClinGen:CA10578889
Deletion	NM_005359.6(SMAD4):c.153del (p.Asp52fs)	SMAD4	Pathogenic	18	48573564	48573564	GA	G	criteria provided, single submitter	ClinGen:CA10580972
single nucleotide variant	NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter)	SMAD4	Pathogenic/Likely pathogenic	18	48575103	48575103	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580973