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.874dup (p.Ile292fs)	BMPR1A	Pathogenic	10	88678933	88678934	C	CA	criteria provided, single submitter	ClinGen:CA658657986
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
single nucleotide variant	NM_004329.3(BMPR1A):c.1021G>T (p.Gly341Cys)	BMPR1A	Likely pathogenic	10	88679081	88679081	G	T	criteria provided, single submitter	ClinGen:CA377460608
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.1360C>T (p.Gln454Ter)	BMPR1A	Pathogenic	10	88683150	88683150	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377462694
Deletion	NM_005359.6(SMAD4):c.752del (p.Asn251fs)	SMAD4	Pathogenic	18	48584578	48584578	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658742
Deletion	NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs)	SMAD4	Pathogenic	18	48603039	48603066	ATGCAGCAGCAGGCGGCTACTGCACAAGC	A	criteria provided, single submitter	ClinGen:CA645609184
single nucleotide variant	NM_005359.6(SMAD4):c.905-1G>A	SMAD4	Likely pathogenic	18	48586235	48586235	G	A	criteria provided, single submitter	ClinGen:CA402463631
single nucleotide variant	NM_005359.6(SMAD4):c.905G>A (p.Trp302Ter)	SMAD4	Pathogenic	18	48586236	48586236	G	A	criteria provided, single submitter	ClinGen:CA402463634
Deletion	NM_005359.6(SMAD4):c.1418del (p.Gly473fs)	SMAD4	Pathogenic	18	48603116	48603116	AG	A	criteria provided, single submitter	ClinGen:CA658658752