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.481del (p.Ala161fs)	BMPR1A	Pathogenic	10	88659833	88659833	TG	T	criteria provided, single submitter	ClinGen:CA645369425
single nucleotide variant	NM_004329.3(BMPR1A):c.551C>G (p.Ser184Ter)	BMPR1A	Pathogenic	10	88672017	88672017	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377454239
single nucleotide variant	NM_004329.3(BMPR1A):c.735T>G (p.Tyr245Ter)	BMPR1A	Pathogenic	10	88676950	88676950	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377457369
single nucleotide variant	NM_004329.3(BMPR1A):c.964A>T (p.Lys322Ter)	BMPR1A	Pathogenic	10	88679024	88679024	A	T	criteria provided, single submitter	ClinGen:CA377460285
Duplication	NM_004329.3(BMPR1A):c.1058_1059dup (p.Gly354fs)	BMPR1A	Pathogenic	10	88679117	88679118	C	CAA	criteria provided, single submitter	ClinGen:CA645369465
single nucleotide variant	NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88681331	88681331	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377461997
single nucleotide variant	NM_004329.3(BMPR1A):c.1460G>A (p.Trp487Ter)	BMPR1A	Pathogenic	10	88683250	88683250	G	A	criteria provided, single submitter	ClinGen:CA377463185
single nucleotide variant	NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter)	BMPR1A	Pathogenic	10	88635839	88635839	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377774871
single nucleotide variant	NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88676912	88676912	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377457014
single nucleotide variant	NM_005359.6(SMAD4):c.1140-1G>A	SMAD4	Pathogenic	18	48593388	48593388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402464705