特発性拡張型心筋症 - MGenReviews

特発性拡張型心筋症

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_000257.4(MYH7):c.3597C>G (p.Ser1199Arg)	MYH7	Likely pathogenic	14	23889183	23889183	G	C	criteria provided, single submitter	ClinGen:CA013829
single nucleotide variant	NM_000257.4(MYH7):c.3163C>A (p.Leu1055Met)	MYH7	Likely pathogenic	14	23891471	23891471	G	T	criteria provided, single submitter	ClinGen:CA013428
single nucleotide variant	NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys)	MYH7	Likely pathogenic	14	23893277	23893277	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013020,UniProtKB:P12883#VAR_042815
single nucleotide variant	NM_000257.4(MYH7):c.2734A>C (p.Lys912Gln)	MYH7	Likely pathogenic	14	23893304	23893304	T	G	criteria provided, single submitter	ClinGen:CA012978
single nucleotide variant	NM_000257.4(MYH7):c.2698G>A (p.Asp900Asn)	MYH7	Likely pathogenic	14	23893340	23893340	C	T	criteria provided, single submitter	ClinGen:CA012874
Indel	NM_000257.4(MYH7):c.2666_2667delinsAA (p.Leu889Gln)	MYH7	Likely pathogenic	14	23893990	23893991	GA	TT	criteria provided, single submitter	ClinGen:CA012800
single nucleotide variant	NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys)	MYH7	Pathogenic/Likely pathogenic	14	23894052	23894052	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P12883#VAR_020815
single nucleotide variant	NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu)	MYH7	Likely pathogenic	14	23894064	23894064	T	C	reviewed by expert panel	ClinGen:CA012685
single nucleotide variant	NM_000257.4(MYH7):c.2555T>A (p.Met852Lys)	MYH7	Likely pathogenic	14	23894102	23894102	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA012614
single nucleotide variant	NM_000257.4(MYH7):c.2518C>A (p.Leu840Met)	MYH7	Likely pathogenic	14	23894139	23894139	G	T	criteria provided, single submitter	ClinGen:CA012529

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