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	NM_170707.4(LMNA):c.476del (p.Glu159fs)	LMNA	Likely pathogenic	1	156100527	156100527	GA	G	criteria provided, single submitter	ClinGen:CA10576366
single nucleotide variant	NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu)	LMNA	Likely pathogenic	1	156105865	156105865	C	G	criteria provided, single submitter	ClinGen:CA10576367
Deletion	NM_004006.2(DMD):c.(?_6439)-24498_(7873_?)-5329del	DMD	Pathogenic	X	31681590	32011129	na	na	criteria provided, single submitter	-
Duplication	NM_000117.3(EMD):c.153dup (p.Ser52fs)	EMD	Pathogenic	X	153608114	153608115	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581192
single nucleotide variant	NM_001079802.2(FKTN):c.369+1G>T	FKTN	Pathogenic	9	108363630	108363630	G	T	criteria provided, single submitter	ClinGen:CA10581277
single nucleotide variant	NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129486817	129486817	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581431
single nucleotide variant	NM_170707.4(LMNA):c.254T>A (p.Leu85His)	LMNA	Likely pathogenic	1	156084963	156084963	T	A	criteria provided, single submitter	ClinGen:CA10581727
single nucleotide variant	NM_170707.4(LMNA):c.928C>T (p.Gln310Ter)	LMNA	Pathogenic	1	156105095	156105095	C	T	criteria provided, single submitter	ClinGen:CA10581728
Deletion	NM_004006.3(DMD):c.7781del (p.Gln2594fs)	DMD	Pathogenic	X	31697583	31697583	CT	C	criteria provided, single submitter	ClinGen:CA10583943
single nucleotide variant	NM_004006.3(DMD):c.5506C>T (p.Gln1836Ter)	DMD	Pathogenic	X	32364140	32364140	G	A	criteria provided, single submitter	ClinGen:CA10583945

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