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.733C>T (p.Arg245Trp)	F8	Pathogenic/Likely pathogenic	X	154213016	154213016	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000132.4(F8):c.558C>A (p.Asp186Glu)	F8	Likely pathogenic	X	154221254	154221254	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.460A>C (p.Thr154Pro)	F8	Likely pathogenic	X	154221352	154221352	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.143G>A (p.Arg48Lys)	F8	Likely pathogenic	X	154250685	154250685	C	T	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	-
Deletion	NM_000133.4(F9):c.724-5_731del	F9	Likely pathogenic	X	138642888	138642900	TTTGTTTTCACAGG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5219+2T>C	F8	Likely pathogenic	X	154156844	154156844	A	G	criteria provided, single submitter	-
Deletion	NM_000133.4(F9):c.521-35_723+84del	F9	Pathogenic	X	138633185	138633506	AAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG	A	criteria provided, single submitter	-
Complex	Single allele	F8	Likely pathogenic	X	154156796	154227925	na	na	criteria provided, single submitter	-

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