筋原線維性ミオパチー - MGenReviews

筋原線維性ミオパチー

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_000002.11:g.(?_219135239)_(220290732_?)del	DES	Pathogenic	2	219135239	220290732	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001927.4(DES):c.1412A>C (p.Ter471Ser)	DES	Likely pathogenic	2	220290711	220290711	A	C	criteria provided, single submitter	ClinGen:CA308298
single nucleotide variant	NM_001927.4(DES):c.1371+1G>C	DES	Likely pathogenic	2	220290468	220290468	G	C	criteria provided, single submitter	ClinGen:CA308297
single nucleotide variant	NM_001927.4(DES):c.1346A>C (p.Lys449Thr)	DES	Pathogenic/Likely pathogenic	2	220290442	220290442	A	C	criteria provided, multiple submitters, no conflicts	UniProtKB:P17661#VAR_042461,ClinGen:CA217038
single nucleotide variant	NM_001927.4(DES):c.1325C>T (p.Thr442Ile)	DES	Pathogenic	2	220290421	220290421	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217036,UniProtKB:P17661#VAR_042459,OMIM:125660.0015
single nucleotide variant	NM_001927.4(DES):c.1289-2A>G	DES	Pathogenic/Likely pathogenic	2	220290383	220290383	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA144512,OMIM:125660.0018
single nucleotide variant	NM_001927.4(DES):c.1285C>T (p.Arg429Ter)	DES	Pathogenic/Likely pathogenic	2	220288539	220288539	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA273504
Deletion	NM_001927.4(DES):c.1255_1271del (p.Pro419fs)	DES	Pathogenic	2	220288506	220288522	TCTCCCCATCCAGACCTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796176
single nucleotide variant	NM_001927.4(DES):c.1255C>T (p.Pro419Ser)	DES	Pathogenic/Likely pathogenic	2	220288509	220288509	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA217034,UniProtKB:P17661#VAR_069074,OMIM:125660.0017
single nucleotide variant	NM_001927.4(DES):c.1237G>T (p.Glu413Ter)	DES	Pathogenic	2	220286275	220286275	G	T	criteria provided, single submitter	-

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