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.1314G>A (p.Trp438Ter)	BMPR1A	Pathogenic	10	88681424	88681424	G	A	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.133_134del (p.Glu45fs)	BMPR1A	Pathogenic	10	88649883	88649884	CAG	C	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.-547_-268+1del	BMPR1A	Pathogenic	10	88516395	88516675	CGGCGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCG	C	criteria provided, single submitter	-
Indel	NM_004329.3(BMPR1A):c.987_992delinsTGTA (p.Arg329fs)	BMPR1A	Pathogenic	10	88679047	88679052	AGCCCT	TGTA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004329.3(BMPR1A):c.40dup (p.Tyr14fs)	BMPR1A	Pathogenic/Likely pathogenic	10	88635814	88635815	C	CT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004329.3(BMPR1A):c.864dup (p.Leu289fs)	BMPR1A	Pathogenic	10	88677078	88677079	T	TA	criteria provided, single submitter	ClinGen:CA658797467
Deletion	NM_004329.3(BMPR1A):c.419del (p.Pro140fs)	BMPR1A	Pathogenic	10	88659632	88659632	GC	G	criteria provided, single submitter	ClinGen:CA658797456
Deletion	NM_004329.3(BMPR1A):c.366_384del (p.Glu123fs)	BMPR1A	Pathogenic	10	88659579	88659597	ACAATAGAATGTTGTCGGAC	A	criteria provided, single submitter	ClinGen:CA658797455
single nucleotide variant	NM_004329.3(BMPR1A):c.910C>T (p.Gln304Ter)	BMPR1A	Pathogenic	10	88678970	88678970	C	T	criteria provided, single submitter	ClinGen:CA377460001
Duplication	NM_004329.3(BMPR1A):c.731dup (p.Tyr245fs)	BMPR1A	Pathogenic	10	88676945	88676946	C	CG	criteria provided, single submitter	ClinGen:CA658797466