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
single nucleotide variant	NM_004329.3(BMPR1A):c.1511G>A (p.Trp504Ter)	BMPR1A	Pathogenic	10	88683388	88683388	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582751
Deletion	NM_004329.3(BMPR1A):c.771del (p.Val258fs)	BMPR1A	Pathogenic	10	88676982	88676982	GA	G	criteria provided, single submitter	ClinGen:CA10582748
single nucleotide variant	NM_004329.3(BMPR1A):c.675+1G>C	BMPR1A	Likely pathogenic	10	88672142	88672142	G	C	criteria provided, single submitter	ClinGen:CA10582746
Deletion	NM_004329.2(BMPR1A):c.-152-?_*1469del	BMPR1A	Pathogenic	10	88635624	88684945	na	na	criteria provided, single submitter	-
Indel	NM_004329.3(BMPR1A):c.884delinsGTTCATAGCGG (p.Asp295delinsGlySerTer)	BMPR1A	Pathogenic	10	88678944	88678944	A	GTTCATAGCGG	criteria provided, single submitter	ClinGen:CA10578889
Duplication	NM_004329.3(BMPR1A):c.405dup (p.Pro136fs)	BMPR1A	Pathogenic	10	88659620	88659621	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10578878
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
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
Duplication	NM_004329.3(BMPR1A):c.286_289dup (p.Ala97fs)	BMPR1A	Pathogenic	10	88651938	88651939	A	ATTAG	criteria provided, single submitter	ClinGen:CA353504
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