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

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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.1804C>G (p.Arg602Gly)	F8	Pathogenic/Likely pathogenic	X	154182266	154182266	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000132.4(F8):c.1700T>C (p.Ile567Thr)	F8	Likely pathogenic	X	154185284	154185284	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1654T>C (p.Tyr552His)	F8	Likely pathogenic	X	154185330	154185330	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1621A>T (p.Thr541Ser)	F8	Pathogenic	X	154185363	154185363	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1364T>G (p.Phe455Cys)	F8	Pathogenic	X	154194324	154194324	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1093T>C (p.Tyr365His)	F8	Likely pathogenic	X	154194879	154194879	A	G	criteria provided, single submitter	-
Duplication	NM_000132.4(F8):c.1073dup (p.Asn358fs)	F8	Likely pathogenic	X	154194898	154194899	A	AT	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1034T>C (p.Val345Ala)	F8	Likely pathogenic	X	154194938	154194938	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1020A>C (p.Glu340Asp)	F8	Pathogenic	X	154194952	154194952	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.979C>G (p.Leu327Val)	F8	Pathogenic/Likely pathogenic	X	154197636	154197636	G	C	criteria provided, multiple submitters, no conflicts	-

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