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
Deletion	NM_004329.3(BMPR1A):c.39del (p.Tyr14fs)	BMPR1A	Pathogenic/Likely pathogenic	10	88635813	88635813	GC	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88649927	88649927	T	A	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	-
single nucleotide variant	NM_005359.6(SMAD4):c.1309-1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48603007	48603007	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402465095
single nucleotide variant	NM_005359.6(SMAD4):c.1308+1G>A	SMAD4	Pathogenic/Likely pathogenic	18	48593558	48593558	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA402465086
Duplication	NM_005359.6(SMAD4):c.1271dup (p.Asp424fs)	SMAD4	Pathogenic/Likely pathogenic	18	48593519	48593520	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658684194
single nucleotide variant	NM_004329.3(BMPR1A):c.676-1G>A	BMPR1A	Pathogenic/Likely pathogenic	10	88676890	88676890	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA377456808
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
single nucleotide variant	NM_004329.3(BMPR1A):c.697C>T (p.Gln233Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88676912	88676912	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377457014
single nucleotide variant	NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88681331	88681331	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377461997