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
single nucleotide variant	NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)	BMPR1A	Pathogenic	10	88676897	88676897	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA294476
Duplication	NM_005359.6(SMAD4):c.1547dup (p.Ser517fs)	SMAD4	Pathogenic	18	48604724	48604725	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA270878
Indel	NM_005359.6(SMAD4):c.326delinsAAATATGAAC (p.Leu109delinsGlnIleTer)	SMAD4	Pathogenic	18	48575132	48575132	T	AAATATGAAC	criteria provided, single submitter	ClinGen:CA234927
single nucleotide variant	NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter)	BMPR1A	Pathogenic	10	88651915	88651915	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA298508
single nucleotide variant	NM_005359.6(SMAD4):c.1239C>A (p.Tyr413Ter)	SMAD4	Pathogenic	18	48593488	48593488	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA299967
Duplication	NM_005359.6(SMAD4):c.1258_1259dup (p.Ala421fs)	SMAD4	Pathogenic	18	48593505	48593506	G	GGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA299973
Deletion	NM_005359.6(SMAD4):c.1338_1339del (p.Gln446fs)	SMAD4	Pathogenic	18	48603036	48603037	CAG	C	criteria provided, single submitter	ClinGen:CA299974
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
Deletion	NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer)	BMPR1A	Pathogenic	10	88649922	88649922	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA186193
Duplication	NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter)	BMPR1A	Pathogenic	10	88649965	88649966	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA189133