遺伝性混合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.1401C>A (p.Tyr467Ter)	BMPR1A	Pathogenic	10	88683191	88683191	C	A	criteria provided, single submitter	ClinGen:CA377462910
single nucleotide variant	NM_004329.3(BMPR1A):c.1374C>A (p.Tyr458Ter)	BMPR1A	Pathogenic	10	88683164	88683164	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004329.3(BMPR1A):c.1360C>T (p.Gln454Ter)	BMPR1A	Pathogenic	10	88683150	88683150	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA377462694
single nucleotide variant	NM_004329.3(BMPR1A):c.1342+2T>G	BMPR1A	Likely pathogenic	10	88681454	88681454	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_004329.3(BMPR1A):c.1314G>A (p.Trp438Ter)	BMPR1A	Pathogenic	10	88681424	88681424	G	A	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.1267del (p.Gln423fs)	BMPR1A	Pathogenic	10	88681376	88681376	TC	T	criteria provided, single submitter	-
Duplication	NM_004329.3(BMPR1A):c.1245_1246dup (p.Ser416fs)	BMPR1A	Pathogenic	10	88681353	88681354	G	GAA	criteria provided, single submitter	ClinGen:CA658657991
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.1221C>G (p.Tyr407Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88681331	88681331	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA377461997
Deletion	NM_004329.3(BMPR1A):c.1101del (p.Asn367fs)	BMPR1A	Pathogenic	10	88679161	88679161	AC	A	criteria provided, single submitter	ClinGen:CA658657990