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
single nucleotide variant	NM_001048174.2(MUTYH):c.248T>C (p.Leu83Pro)	MUTYH	Likely pathogenic	1	45799101	45799101	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001048174.2(MUTYH):c.705G>A (p.Trp235Ter)	MUTYH	Pathogenic	1	45797982	45797982	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.607-1G>A	MUTYH	Likely pathogenic	1	45798161	45798161	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001048174.2(MUTYH):c.116-22G>T	MUTYH	Pathogenic	1	45799255	45799255	C	A	criteria provided, single submitter	-
Duplication	NM_000038.6(APC):c.424_531+69dup	APC	Likely pathogenic	5	112111326	112111327	G	GTCATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAGACTGGTATTACGCTCAACTTCAGAATCTCACTAAAAGAATAGATAGTCTTCCTTTAACTGAAAATGTAAGTAACTTGGCAGTACAACTTATTTGAAACTTTAATAACTTGATATTTTAAAGTACCTAGGTAATC	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.1270C>T (p.Gln424Ter)	APC	Pathogenic	5	112154999	112154999	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.2884del (p.Asp962fs)	APC	Pathogenic	5	112174175	112174175	TG	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.4167del (p.Val1390fs)	APC	Pathogenic	5	112175458	112175458	CT	C	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.4670_4671del (p.Ile1557fs)	APC	Pathogenic	5	112175961	112175962	ATT	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.5293_5296del (p.Leu1765fs)	APC	Pathogenic	5	112176582	112176585	CAGTT	C	criteria provided, single submitter	-

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