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.15C>A (p.Tyr5Ter)	BMPR1A	Pathogenic	10	88635790	88635790	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377774768
single nucleotide variant	NM_004329.3(BMPR1A):c.68-1G>A	BMPR1A	Pathogenic/Likely pathogenic	10	88649818	88649818	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377446195
Deletion	NM_004329.3(BMPR1A):c.325del (p.Gln109fs)	BMPR1A	Pathogenic	10	88651978	88651978	TC	T	criteria provided, single submitter	ClinGen:CA658657974
Duplication	NM_004329.3(BMPR1A):c.1245_1246dup (p.Ser416fs)	BMPR1A	Pathogenic	10	88681353	88681354	G	GAA	criteria provided, single submitter	ClinGen:CA658657991
single nucleotide variant	NM_004329.3(BMPR1A):c.1401C>A (p.Tyr467Ter)	BMPR1A	Pathogenic	10	88683191	88683191	C	A	criteria provided, single submitter	ClinGen:CA377462910
Duplication	NM_004329.3(BMPR1A):c.199_203dup (p.Asp69fs)	BMPR1A	Pathogenic	10	88649948	88649949	A	ACTGTC	criteria provided, single submitter	ClinGen:CA658657973
Deletion	NM_004329.3(BMPR1A):c.961del (p.Phe320_Leu321insTer)	BMPR1A	Pathogenic	10	88679020	88679020	TC	T	criteria provided, single submitter	ClinGen:CA658657988,OMIM:601299.0004
Deletion	NM_004329.3(BMPR1A):c.1101del (p.Asn367fs)	BMPR1A	Pathogenic	10	88679161	88679161	AC	A	criteria provided, single submitter	ClinGen:CA658657990
single nucleotide variant	NM_004329.3(BMPR1A):c.245G>T (p.Cys82Phe)	BMPR1A	Likely pathogenic	10	88651898	88651898	G	T	criteria provided, single submitter	ClinGen:CA377447951
single nucleotide variant	NM_004329.3(BMPR1A):c.271C>T (p.Gln91Ter)	BMPR1A	Pathogenic	10	88651924	88651924	C	T	criteria provided, single submitter	ClinGen:CA377448082