若年性ポリポーシス症候群 - MGenReviews

若年性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
Duplication	NM_005359.6(SMAD4):c.1407_1410dup (p.Gly471fs)	SMAD4	Pathogenic	18	48603104	48603105	A	ATCCC	criteria provided, single submitter	ClinGen:CA658799052
Deletion	NM_005359.6(SMAD4):c.1409del (p.Pro470fs)	SMAD4	Pathogenic	18	48603106	48603106	TC	T	criteria provided, single submitter	ClinGen:CA658799053
single nucleotide variant	NM_005359.6(SMAD4):c.454+2T>C	SMAD4	Likely pathogenic	18	48575696	48575696	T	C	criteria provided, single submitter	ClinGen:CA402459644
Deletion	NM_005359.6(SMAD4):c.955+1del	SMAD4	Likely pathogenic	18	48586286	48586286	TG	T	criteria provided, single submitter	ClinGen:CA658799061
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	-
single nucleotide variant	NM_005359.6(SMAD4):c.1308+2T>C	SMAD4	Pathogenic	18	48593559	48593559	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1523G>A (p.Gly508Asp)	SMAD4	Likely pathogenic	18	48604701	48604701	G	A	criteria provided, single submitter	-
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	-

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