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_000133.3(F9):c.-35G>A	F9	Pathogenic	X	138612889	138612889	G	A	criteria provided, single submitter	OMIM:300746.0002,OMIM:300746.0003
single nucleotide variant	NM_000133.4(F9):c.82T>C (p.Cys28Arg)	F9	Pathogenic	X	138613005	138613005	T	C	criteria provided, single submitter	ClinGen:CA255450,UniProtKB:P00740#VAR_006522,OMIM:300746.0100
single nucleotide variant	NM_000133.4(F9):c.88G>C (p.Val30Leu)	F9	Pathogenic	X	138613011	138613011	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.88G>A (p.Val30Ile)	F9	Pathogenic	X	138613011	138613011	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.88+1G>A	F9	Likely pathogenic	X	138613012	138613012	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.88+5G>T	F9	Likely pathogenic	X	138613016	138613016	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.148G>A (p.Gly50Ser)	F9	Pathogenic	X	138619228	138619228	G	A	criteria provided, single submitter	ClinGen:CA414435668
single nucleotide variant	NM_000133.4(F9):c.161A>T (p.Glu54Val)	F9	Likely pathogenic	X	138619241	138619241	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.223C>T (p.Arg75Ter)	F9	Pathogenic	X	138619303	138619303	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340993,OMIM:300746.0015
single nucleotide variant	NM_000133.4(F9):c.224G>A (p.Arg75Gln)	F9	Pathogenic/Likely pathogenic	X	138619304	138619304	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255318,UniProtKB:P00740#VAR_017308,OMIM:300746.0016

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