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
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_004329.3(BMPR1A):c.150del (p.Ala51fs)	BMPR1A	Pathogenic	10	88649901	88649901	TA	T	criteria provided, single submitter	-
Deletion	NM_004329.3(BMPR1A):c.160del (p.Asp54fs)	BMPR1A	Pathogenic	10	88649910	88649910	AG	A	criteria provided, single submitter	ClinGen:CA645369466
Deletion	NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer)	BMPR1A	Pathogenic	10	88649922	88649922	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA186193
single nucleotide variant	NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter)	BMPR1A	Pathogenic/Likely pathogenic	10	88649927	88649927	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004329.3(BMPR1A):c.189C>A (p.Cys63Ter)	BMPR1A	Pathogenic	10	88649940	88649940	C	A	criteria provided, single submitter	-
Duplication	NM_004329.3(BMPR1A):c.199_203dup (p.Asp69fs)	BMPR1A	Pathogenic	10	88649948	88649949	A	ACTGTC	criteria provided, single submitter	ClinGen:CA658657973
Duplication	NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter)	BMPR1A	Pathogenic	10	88649965	88649966	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA189133
Deletion	NM_004329.3(BMPR1A):c.213_228del (p.Ala71_Ile72insTer)	BMPR1A	Pathogenic	10	88649960	88649975	GATGCTATTAATAACAC	G	criteria provided, single submitter	ClinGen:CA16613195
single nucleotide variant	NM_004329.3(BMPR1A):c.231-1G>C	BMPR1A	Likely pathogenic	10	88651883	88651883	G	C	criteria provided, single submitter	-