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_005359.6(SMAD4):c.903del (p.Trp302fs)	SMAD4	Pathogenic	18	48584825	48584825	AC	A	criteria provided, single submitter	ClinGen:CA658658743
Deletion	NM_005359.6(SMAD4):c.1023del (p.Pro342fs)	SMAD4	Pathogenic	18	48591859	48591859	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658744
Duplication	NM_005359.6(SMAD4):c.1201dup (p.Cys401fs)	SMAD4	Pathogenic	18	48593449	48593450	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658749
Deletion	NM_005359.6(SMAD4):c.275_276del (p.His92fs)	SMAD4	Pathogenic	18	48575081	48575082	CAT	C	criteria provided, single submitter	ClinGen:CA658658740
Deletion	NM_005359.6(SMAD4):c.1239_1241del (p.Tyr413_Leu414delinsTer)	SMAD4	Pathogenic	18	48593488	48593490	ACTT	A	criteria provided, single submitter	ClinGen:CA658658751
single nucleotide variant	NM_005359.6(SMAD4):c.250-2A>G	SMAD4	Likely pathogenic	18	48575054	48575054	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA402458160
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
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_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter)	SMAD4	Pathogenic	18	48591896	48591896	C	G	criteria provided, single submitter	ClinGen:CA402464300
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