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
Duplication	NM_004329.3(BMPR1A):c.578dup (p.Leu193fs)	BMPR1A	Pathogenic	10	88672041	88672042	A	AT	criteria provided, single submitter	ClinGen:CA658657981
single nucleotide variant	NM_004329.3(BMPR1A):c.567C>A (p.Tyr189Ter)	BMPR1A	Pathogenic	10	88672033	88672033	C	A	criteria provided, single submitter	ClinGen:CA377454413
Duplication	NM_004329.3(BMPR1A):c.566dup (p.Tyr189Ter)	BMPR1A	Pathogenic	10	88672031	88672032	T	TA	criteria provided, multiple submitters, no conflicts	-
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
Deletion	NC_000010.11:g.(?_86912230)_(86917336_?)del	BMPR1A	Pathogenic	10	88671987	88677093	na	na	criteria provided, single submitter	-
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.458G>A (p.Trp153Ter)	BMPR1A	Pathogenic	10	88659811	88659811	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377450259
single nucleotide variant	NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter)	BMPR1A	Pathogenic	10	88659807	88659807	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377450232
Indel	NM_004329.3(BMPR1A):c.441_458delinsGA (p.Phe147fs)	BMPR1A	Pathogenic	10	88659794	88659811	TGATGGCAGCATTCGATG	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369424
Deletion	NM_004329.3(BMPR1A):c.420del (p.Val141fs)	BMPR1A	Pathogenic	10	88659637	88659637	CT	C	criteria provided, single submitter	ClinGen:CA190154