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>T (p.Arg602Ter)	F8	Pathogenic	X	154182266	154182266	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255124,OMIM:300841.0149
single nucleotide variant	NM_000132.4(F8):c.1834C>T (p.Arg612Cys)	F8	Pathogenic	X	154182236	154182236	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255129,UniProtKB:P00451#VAR_001120,OMIM:300841.0153
single nucleotide variant	NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	F8	Pathogenic/Likely pathogenic	X	154159916	154159916	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255137,UniProtKB:P00451#VAR_001130,OMIM:300841.0162
single nucleotide variant	NM_000132.4(F8):c.2167G>A (p.Ala723Thr)	F8	Pathogenic	X	154159898	154159898	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255138,UniProtKB:P00451#VAR_001132,OMIM:300841.0163
Duplication	NM_000132.4(F8):c.2945dup (p.Asn982fs)	F8	Pathogenic	X	154159119	154159120	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA255142,OMIM:300841.0166
Deletion	NM_000132.4(F8):c.3637del (p.Ile1213fs)	F8	Pathogenic/Likely pathogenic	X	154158428	154158428	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255146,OMIM:300841.0170
Deletion	NM_000132.4(F8):c.4121_4124del (p.Ile1374fs)	F8	Pathogenic	X	154157941	154157944	GTCTA	G	criteria provided, single submitter	ClinGen:CA255148,OMIM:300841.0173
Deletion	NM_000132.4(F8):c.4379del (p.Asn1460fs)	F8	Pathogenic	X	154157686	154157686	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255151,OMIM:300841.0178
Duplication	NM_000132.4(F8):c.4825dup (p.Thr1609fs)	F8	Pathogenic	X	154157239	154157240	G	GT	criteria provided, single submitter	ClinGen:CA255152,OMIM:300841.0180
single nucleotide variant	NM_000132.4(F8):c.5123G>A (p.Arg1708His)	F8	Pathogenic/Likely pathogenic	X	154156942	154156942	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255154,UniProtKB:P00451#VAR_001141,OMIM:300841.0183

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