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.1037A>G (p.His346Arg)	BMPR1A	Likely pathogenic	10	88679097	88679097	A	G	criteria provided, single submitter	ClinGen:CA168682
single nucleotide variant	NM_005359.6(SMAD4):c.1088G>A (p.Cys363Tyr)	SMAD4	Likely pathogenic	18	48591925	48591925	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580985
single nucleotide variant	NM_004329.3(BMPR1A):c.675+1G>C	BMPR1A	Likely pathogenic	10	88672142	88672142	G	C	criteria provided, single submitter	ClinGen:CA10582746
single nucleotide variant	NM_005359.6(SMAD4):c.1051G>C (p.Asp351His)	SMAD4	Likely pathogenic	18	48591888	48591888	G	C	criteria provided, single submitter	ClinGen:CA16602471
single nucleotide variant	NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg)	SMAD4	Likely pathogenic	18	48604673	48604673	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16615805
single nucleotide variant	NM_005359.6(SMAD4):c.1447+2T>C	SMAD4	Likely pathogenic	18	48603148	48603148	T	C	criteria provided, single submitter	ClinGen:CA16616086
Duplication	NM_004329.3(BMPR1A):c.143dup (p.Thr49fs)	BMPR1A	Likely pathogenic	10	88649893	88649894	G	GT	criteria provided, single submitter	ClinGen:CA16618997
Deletion	NM_001406583.1(BMPR1A):c.676-6del	BMPR1A	Likely pathogenic	10	88676890	88676890	AG	A	criteria provided, single submitter	ClinGen:CA16619003
Indel	NM_004329.3(BMPR1A):c.1243_1244delinsTTTC (p.Glu415fs)	BMPR1A	Likely pathogenic	10	88681353	88681354	GA	TTTC	criteria provided, single submitter	ClinGen:CA16619011
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