筋ジストロフィー - MGenReviews

筋ジストロフィー

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
Deletion	NC_000006.12:g.(?_128883236)_(129098425_?)del	LAMA2	Pathogenic	6	129204381	129419570	na	na	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_129059774)_(129098425_?)del	LAMA2	Pathogenic	6	129380919	129419570	na	na	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_129165566)_(129192863_?)del	LAMA2	Likely pathogenic	6	129486711	129514008	na	na	criteria provided, single submitter	-
Deletion	NC_000006.12:g.(?_129349288)_(129403969_?)del	LAMA2	Pathogenic	6	129670433	129725114	na	na	criteria provided, single submitter	-
Deletion	NM_182961.4(SYNE1):c.4975_4976+8del	SYNE1	Pathogenic	6	152749332	152749341	GCTGCTCACCT	G	criteria provided, single submitter	-
single nucleotide variant	NM_001079802.2(FKTN):c.780+2T>C	FKTN	Likely pathogenic	9	108370234	108370234	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.1003-2A>C	COL6A1	Pathogenic	21	47410685	47410685	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.1003-1G>T	COL6A1	Pathogenic	21	47410686	47410686	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.1575+1G>A	COL6A1	Likely pathogenic	21	47418086	47418086	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001849.4(COL6A2):c.1180-2A>G	COL6A2	Likely pathogenic	21	47538942	47538942	A	G	criteria provided, single submitter	-

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