肥大型心筋症 - MGenReviews

肥大型心筋症

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
single nucleotide variant	NM_001458.5(FLNC):c.7780+1G>A	FLNC	Likely pathogenic	7	128497391	128497391	G	A	criteria provided, single submitter	-
Indel	NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs)	FLNC	Pathogenic	7	128470838	128470838	C	TCT	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.699+1G>A	FLNC	Likely pathogenic	7	128477312	128477312	G	A	criteria provided, single submitter	-
Deletion	NM_001458.5(FLNC):c.8107del (p.Asp2703fs)	FLNC	Pathogenic/Likely pathogenic	7	128498503	128498503	AG	A	criteria provided, multiple submitters, no conflicts	OMIM:102565.0018
single nucleotide variant	NM_000256.3(MYBPC3):c.3627+2T>C	MYBPC3	Likely pathogenic	11	47354115	47354115	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.852-2A>G	MYBPC3	Pathogenic/Likely pathogenic	11	47369032	47369032	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000007.14:g.(?_128830618)_(128858543_?)del	FLNC	Pathogenic	7	128470672	128498597	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.1759G>C (p.Asp587His)	MYH7	Likely pathogenic	14	23896923	23896923	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter)	FLNC	Pathogenic/Likely pathogenic	7	128486190	128486190	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001458.5(FLNC):c.5669-1del	FLNC	Pathogenic	7	128491508	128491508	AG	A	criteria provided, single submitter	OMIM:102565.0014

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