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
Deletion	NM_000038.6(APC):c.2522del (p.Ser840_Leu841insTer)	APC	Pathogenic	5	112173812	112173812	CT	C	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.2536del (p.Ser846fs)	APC	Pathogenic	5	112173826	112173826	GT	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.2587_2600del (p.Tyr863fs)	APC	Pathogenic	5	112173873	112173886	GGCAACTACCATCCA	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.2844_2847dup (p.Pro950fs)	APC	Pathogenic	5	112174134	112174135	C	CTATG	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.3137del (p.Asn1046fs)	APC	Pathogenic	5	112174427	112174427	GA	G	criteria provided, single submitter	-
Deletion	NM_000038.6(APC):c.3189_3192del (p.Glu1064fs)	APC	Pathogenic	5	112174478	112174481	AAGTG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000038.6(APC):c.3211_3212del (p.Gln1071fs)	APC	Pathogenic	5	112174502	112174503	TCA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000038.6(APC):c.3311C>G (p.Ser1104Ter)	APC	Pathogenic	5	112174602	112174602	C	G	criteria provided, single submitter	-
Insertion	NM_000038.6(APC):c.3793_3794insCTT (p.Glu1265delinsAlaTer)	APC	Pathogenic/Likely pathogenic	5	112175084	112175085	G	GCTT	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000038.6(APC):c.3860_3872dup (p.Gln1291delinsHisArgMetTer)	APC	Pathogenic	5	112175149	112175150	A	AATAGGATGTAATC	criteria provided, single submitter	-

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