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
Duplication	NM_004329.3(BMPR1A):c.731dup (p.Tyr245fs)	BMPR1A	Pathogenic	10	88676945	88676946	C	CG	criteria provided, single submitter	ClinGen:CA658797466
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
Deletion	NM_004329.3(BMPR1A):c.275del (p.Gly92fs)	BMPR1A	Pathogenic	10	88651926	88651926	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658683566
single nucleotide variant	NM_004329.3(BMPR1A):c.1360C>T (p.Gln454Ter)	BMPR1A	Pathogenic	10	88683150	88683150	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377462694
Deletion	NM_004329.3(BMPR1A):c.1061del (p.Gly354fs)	BMPR1A	Pathogenic	10	88679120	88679120	AG	A	criteria provided, single submitter	ClinGen:CA658657989
single nucleotide variant	NM_004329.3(BMPR1A):c.1010C>A (p.Ser337Ter)	BMPR1A	Pathogenic	10	88679070	88679070	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377460547
Duplication	NM_004329.3(BMPR1A):c.874dup (p.Ile292fs)	BMPR1A	Pathogenic	10	88678933	88678934	C	CA	criteria provided, single submitter	ClinGen:CA658657986
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
Deletion	NM_004329.3(BMPR1A):c.1101del (p.Asn367fs)	BMPR1A	Pathogenic	10	88679161	88679161	AC	A	criteria provided, single submitter	ClinGen:CA658657990
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