遺伝性混合ポリポーシス症候群

腫瘍性疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1013C>A (p.Ala338Asp)	BMPR1A	Likely pathogenic	10	88679073	88679073	C	A	criteria provided, single submitter	ClinGen:CA254361,UniProtKB:P36894#VAR_015534,OMIM:601299.0005
single nucleotide variant	NM_004329.3(BMPR1A):c.1474-2A>G	BMPR1A	Likely pathogenic	10	88683349	88683349	A	G	criteria provided, single submitter	ClinGen:CA164082
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_004329.3(BMPR1A):c.675+1G>C	BMPR1A	Likely pathogenic	10	88672142	88672142	G	C	criteria provided, single submitter	ClinGen:CA10582746
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
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.1021G>T (p.Gly341Cys)	BMPR1A	Likely pathogenic	10	88679081	88679081	G	T	criteria provided, single submitter	ClinGen:CA377460608