遺伝性混合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	NC_000010.11:g.(?_86876009)_(86923729_?)del	BMPR1A	Pathogenic	10	88635766	88683486	na	na	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.-1_2del (p.Met1del)	BMPR1A	Likely pathogenic	10	88635775	88635777	CAAT	C	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.1A>G (p.Met1Val)	BMPR1A	Pathogenic/Likely pathogenic	10	88635776	88635776	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA195612
single nucleotide variant	NM_004329.3(BMPR1A):c.1A>C (p.Met1Leu)	BMPR1A	Pathogenic/Likely pathogenic	10	88635776	88635776	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA377774739
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
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
Deletion	NM_004329.3(BMPR1A):c.39del (p.Tyr14fs)	BMPR1A	Pathogenic/Likely pathogenic	10	88635813	88635813	GC	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004329.3(BMPR1A):c.40dup (p.Tyr14fs)	BMPR1A	Pathogenic/Likely pathogenic	10	88635814	88635815	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004329.3(BMPR1A):c.44_47del (p.Leu15fs)	BMPR1A	Pathogenic	10	88635817	88635820	ATTTG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797453,OMIM:601299.0001
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