血友病A/B - MGenReviews

血友病A/B

小児・神経疾患

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_000132.4(F8):c.5939A>G (p.His1980Arg)	F8	Likely pathogenic	X	154132240	154132240	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5605G>A (p.Gly1869Ser)	F8	Pathogenic	X	154132781	154132781	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5417C>T (p.Ser1806Phe)	F8	Likely pathogenic	X	154133255	154133255	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.4042A>T (p.Lys1348Ter)	F8	Pathogenic	X	154158023	154158023	T	A	criteria provided, single submitter	-
Deletion	NM_000132.4(F8):c.2945del (p.Asn982fs)	F8	Pathogenic	X	154159120	154159120	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.2161A>C (p.Met721Leu)	F8	Likely pathogenic	X	154159904	154159904	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1952A>C (p.His651Pro)	F8	Likely pathogenic	X	154176134	154176134	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.877C>G (p.His293Asp)	F8	Likely pathogenic	X	154197738	154197738	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.575T>C (p.Ile192Thr)	F8	Pathogenic	X	154221237	154221237	A	G	criteria provided, single submitter	-
Deletion	NM_000132.4(F8):c.379del (p.Ala127fs)	F8	Pathogenic	X	154225257	154225257	GC	G	criteria provided, single submitter	-

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