家族性大腸腺腫症 - MGenReviews

家族性大腸腺腫症

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
Indel	NM_000038.6(APC):c.6247_6250delinsTGT (p.Ile2083fs)	APC	Pathogenic	5	112177538	112177541	ATAC	TGT	criteria provided, single submitter	ClinGen:CA16611670
Indel	NM_000038.6(APC):c.4404_4418delinsC (p.Lys1468fs)	APC	Pathogenic	5	112175695	112175709	GCAAGCTGCAGTAAA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611673
Duplication	NC_000005.9:g.(?_112090570)_(112157688_?)dup	APC	Likely pathogenic	5	112090570	112157688	na	na	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_112815495)_(112821991_?)del	APC	Pathogenic	5	112151192	112157688	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.532-8G>A	APC	Pathogenic	5	112116479	112116479	G	A	reviewed by expert panel	ClinGen:CA16611747
single nucleotide variant	NM_000038.6(APC):c.834G>A (p.Gln278=)	APC	Pathogenic/Likely pathogenic	5	112137080	112137080	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611754
Deletion	NM_000038.6(APC):c.874_880del (p.Ser293fs)	APC	Pathogenic	5	112151228	112151234	TGTTTTGA	T	criteria provided, single submitter	ClinGen:CA16611758
Duplication	NM_000038.6(APC):c.1246dup (p.Tyr416fs)	APC	Pathogenic/Likely pathogenic	5	112154973	112154974	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611762
single nucleotide variant	NM_000038.6(APC):c.1409-5A>G	APC	Pathogenic	5	112162800	112162800	A	G	criteria provided, single submitter	ClinGen:CA16611764
Deletion	NM_000038.6(APC):c.1879_1882del (p.Asn627fs)	APC	Pathogenic	5	112170780	112170783	GACAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16611772

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