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

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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_000023.11:g.(?_32484899)_(32699313_?)del	DMD	Pathogenic	X	32503016	32717430	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32595737)_(32699313_?)del	DMD	Pathogenic	X	32613854	32717430	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32595737)_(32823850_?)del	DMD	Pathogenic	X	32613854	32841967	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32644112)_(32651077_?)del	DMD	Pathogenic	X	32662229	32669194	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9807+5G>A	DMD	Likely pathogenic	X	31222073	31222073	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9100C>T (p.Arg3034Ter)	DMD	Pathogenic	X	31366736	31366736	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.7252C>T (p.Gln2418Ter)	DMD	Pathogenic	X	31838149	31838149	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.7247T>A (p.Leu2416Ter)	DMD	Pathogenic	X	31838154	31838154	A	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.5487_5488del (p.Gly1831fs)	DMD	Pathogenic	X	32364158	32364159	CTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3020C>A (p.Ser1007Ter)	DMD	Pathogenic	X	32486757	32486757	G	T	criteria provided, single submitter	-

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