遺伝性混合ポリポーシス症候群 - MGenReviews

遺伝性混合ポリポーシス症候群

腫瘍性疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

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.910C>T (p.Gln304Ter)	BMPR1A	Pathogenic	10	88678970	88678970	C	T	criteria provided, single submitter	ClinGen:CA377460001
Deletion	NM_004329.3(BMPR1A):c.366_384del (p.Glu123fs)	BMPR1A	Pathogenic	10	88659579	88659597	ACAATAGAATGTTGTCGGAC	A	criteria provided, single submitter	ClinGen:CA658797455
Deletion	NM_004329.3(BMPR1A):c.419del (p.Pro140fs)	BMPR1A	Pathogenic	10	88659632	88659632	GC	G	criteria provided, single submitter	ClinGen:CA658797456
Duplication	NM_004329.3(BMPR1A):c.864dup (p.Leu289fs)	BMPR1A	Pathogenic	10	88677078	88677079	T	TA	criteria provided, single submitter	ClinGen:CA658797467
Duplication	NM_004329.3(BMPR1A):c.40dup (p.Tyr14fs)	BMPR1A	Pathogenic/Likely pathogenic	10	88635814	88635815	C	CT	criteria provided, multiple submitters, no conflicts	-
Indel	NM_004329.3(BMPR1A):c.987_992delinsTGTA (p.Arg329fs)	BMPR1A	Pathogenic	10	88679047	88679052	AGCCCT	TGTA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004329.3(BMPR1A):c.-547_-268+1del	BMPR1A	Pathogenic	10	88516395	88516675	CGGCGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCG	C	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	-
single nucleotide variant	NM_004329.3(BMPR1A):c.1314G>A (p.Trp438Ter)	BMPR1A	Pathogenic	10	88681424	88681424	G	A	criteria provided, single submitter	-
Deletion	NC_000010.10:g.(?_88649809)_(89725239_?)del	BMPR1A	Pathogenic	10	88649809	89725239	na	na	criteria provided, single submitter	-

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