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
Duplication	NM_001267550.2(TTN):c.51234_51237dup (p.Leu17080fs)	TTN	Likely pathogenic	2	179475015	179475016	G	GAATT	criteria provided, single submitter	ClinGen:CA658657158
single nucleotide variant	NM_001267550.2(TTN):c.47894T>A (p.Leu15965Ter)	TTN	Likely pathogenic	2	179481722	179481722	A	T	criteria provided, single submitter	ClinGen:CA349612840
Deletion	NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs)	TTN	Likely pathogenic	2	179542362	179542386	TGGCACCTTAGGTTTAACTTCTGGAA	T	criteria provided, single submitter	ClinGen:CA658657169
Deletion	NM_001458.5(FLNC):c.774del (p.Lys259fs)	FLNC	Pathogenic	7	128477523	128477523	TC	T	criteria provided, single submitter	ClinGen:CA658657715
single nucleotide variant	NM_001458.5(FLNC):c.1676+1G>A	FLNC	Likely pathogenic	7	128480729	128480729	G	A	criteria provided, single submitter	ClinGen:CA369226826
Deletion	NM_001458.5(FLNC):c.4716del (p.Leu1573fs)	FLNC	Pathogenic	7	128488747	128488747	AG	A	criteria provided, single submitter	ClinGen:CA658657722
single nucleotide variant	NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg)	FLNC	Likely pathogenic	7	128494697	128494697	G	A	criteria provided, single submitter	ClinGen:CA166191873
single nucleotide variant	NM_001458.5(FLNC):c.7294C>T (p.Gln2432Ter)	FLNC	Pathogenic	7	128496614	128496614	C	T	criteria provided, single submitter	ClinGen:CA369216620
Deletion	NM_001458.5(FLNC):c.1519_1525del (p.Gly507fs)	FLNC	Pathogenic	7	128480181	128480187	CAGCGGGG	C	criteria provided, single submitter	ClinGen:CA658657716
Deletion	NM_001458.5(FLNC):c.2390-10_2406del	FLNC	Pathogenic	7	128482836	128482862	CGCTTCTCTGCAGGCGACGTGAGCATCG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657718

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