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_000038.6(APC):c.288T>A (p.Tyr96Ter)	APC	Pathogenic	5	112102953	112102953	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA007872
single nucleotide variant	NM_000038.6(APC):c.423-1G>C	APC	Pathogenic	5	112111325	112111325	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA009194
Deletion	NM_000038.6(APC):c.1312+3_1312+4del	APC	Pathogenic	5	112155043	112155044	GTA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA004192
single nucleotide variant	NM_000038.6(APC):c.1987C>T (p.Gln663Ter)	APC	Pathogenic/Likely pathogenic	5	112173278	112173278	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007124
Insertion	NM_000038.6(APC):c.3473_3474insGA (p.Pro1159fs)	APC	Pathogenic	5	112174764	112174765	G	GGA	criteria provided, single submitter	ClinGen:CA008444
single nucleotide variant	NM_000038.6(APC):c.3602C>G (p.Ser1201Ter)	APC	Pathogenic	5	112174893	112174893	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008544
Deletion	NM_000038.6(APC):c.5490_5493del (p.Asn1830fs)	APC	Pathogenic	5	112176779	112176782	TAATG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010446
Deletion	NM_001048174.2(MUTYH):c.1392_1392+6del	MUTYH	Likely pathogenic	1	45796848	45796854	GTAGTGCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA346797
Deletion	NM_000038.6(APC):c.3149del (p.Ala1050fs)	APC	Pathogenic	5	112174440	112174440	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA008084
Duplication	NM_001048174.2(MUTYH):c.1017dup (p.Arg340fs)	MUTYH	Pathogenic/Likely pathogenic	1	45797417	45797418	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA192878

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