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_005359.6(SMAD4):c.454+2T>C	SMAD4	Likely pathogenic	18	48575696	48575696	T	C	criteria provided, single submitter	ClinGen:CA402459644
single nucleotide variant	NM_005359.6(SMAD4):c.250-1G>C	SMAD4	Likely pathogenic	18	48575055	48575055	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA402458163
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_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_004329.3(BMPR1A):c.1021G>T (p.Gly341Cys)	BMPR1A	Likely pathogenic	10	88679081	88679081	G	T	criteria provided, single submitter	ClinGen:CA377460608
single nucleotide variant	NM_004329.3(BMPR1A):c.245G>T (p.Cys82Phe)	BMPR1A	Likely pathogenic	10	88651898	88651898	G	T	criteria provided, single submitter	ClinGen:CA377447951
single nucleotide variant	NM_004329.3(BMPR1A):c.67G>A (p.Gly23Arg)	BMPR1A	Likely pathogenic	10	88635842	88635842	G	A	criteria provided, single submitter	ClinGen:CA377774875
Indel	NM_004329.3(BMPR1A):c.1243_1244delinsTTTC (p.Glu415fs)	BMPR1A	Likely pathogenic	10	88681353	88681354	GA	TTTC	criteria provided, single submitter	ClinGen:CA16619011
Deletion	NM_001406583.1(BMPR1A):c.676-6del	BMPR1A	Likely pathogenic	10	88676890	88676890	AG	A	criteria provided, single submitter	ClinGen:CA16619003
Duplication	NM_004329.3(BMPR1A):c.143dup (p.Thr49fs)	BMPR1A	Likely pathogenic	10	88649893	88649894	G	GT	criteria provided, single submitter	ClinGen:CA16618997