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

Excelでダウンロード

1
...
99
100
101
102
103
...
343

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.1316T>G (p.Met439Arg)	MYH7	Likely pathogenic	14	23898255	23898255	A	C	criteria provided, single submitter	ClinGen:CA010528
single nucleotide variant	NM_000257.4(MYH7):c.1315A>G (p.Met439Val)	MYH7	Likely pathogenic	14	23898256	23898256	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010515
single nucleotide variant	NM_000257.4(MYH7):c.1234A>T (p.Thr412Ser)	MYH7	Pathogenic	14	23898461	23898461	T	A	criteria provided, single submitter	ClinGen:CA010415
single nucleotide variant	NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu)	MYH7	Pathogenic/Likely pathogenic	14	23899071	23899071	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010108,UniProtKB:P12883#VAR_042775
single nucleotide variant	NM_000257.4(MYH7):c.871T>C (p.Ser291Pro)	MYH7	Likely pathogenic	14	23900134	23900134	A	G	criteria provided, single submitter	ClinGen:CA016911
single nucleotide variant	NM_000257.4(MYH7):c.842G>C (p.Arg281Thr)	MYH7	Pathogenic/Likely pathogenic	14	23900163	23900163	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016879
single nucleotide variant	NM_000257.4(MYH7):c.730T>C (p.Phe244Leu)	MYH7	Pathogenic	14	23900796	23900796	A	G	criteria provided, single submitter	ClinGen:CA016711,UniProtKB:P12883#VAR_020802
single nucleotide variant	NM_000257.4(MYH7):c.649G>C (p.Glu217Gln)	MYH7	Likely pathogenic	14	23900877	23900877	C	G	criteria provided, single submitter	ClinGen:CA016603
single nucleotide variant	NM_000257.4(MYH7):c.595G>A (p.Ala199Thr)	MYH7	Likely pathogenic	14	23901014	23901014	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.442A>C (p.Ser148Arg)	MYH7	Likely pathogenic	14	23901908	23901908	T	G	criteria provided, single submitter	ClinGen:CA014971

1
...
99
100
101
102
103
...
343