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.1358G>A (p.Arg453His)	MYH7	Pathogenic	14	23898213	23898213	C	T	reviewed by expert panel	ClinGen:CA010639,UniProtKB:P12883#VAR_042788
single nucleotide variant	NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)	MYH7	Likely pathogenic	14	23898201	23898201	A	G	reviewed by expert panel	ClinGen:CA010654
single nucleotide variant	NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser)	MYH7	Pathogenic/Likely pathogenic	14	23896932	23896932	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011178,UniProtKB:P12883#VAR_029436
single nucleotide variant	NM_000257.4(MYH7):c.1791C>A (p.Asn597Lys)	MYH7	Likely pathogenic	14	23896891	23896891	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011255
single nucleotide variant	NM_000257.4(MYH7):c.1798C>T (p.Pro600Ser)	MYH7	Likely pathogenic	14	23896884	23896884	G	A	criteria provided, single submitter	ClinGen:CA011279
single nucleotide variant	NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys)	MYH7	Pathogenic	14	23896043	23896043	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA011543,UniProtKB:P12883#VAR_042798
single nucleotide variant	NM_000257.4(MYH7):c.1988G>A (p.Arg663His)	MYH7	Pathogenic	14	23896042	23896042	C	T	reviewed by expert panel	ClinGen:CA011552,UniProtKB:P12883#VAR_019855
single nucleotide variant	NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn)	MYH7	Pathogenic/Likely pathogenic	14	23895230	23895230	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011696
single nucleotide variant	NM_000257.4(MYH7):c.2123G>C (p.Gly708Ala)	MYH7	Likely pathogenic	14	23895212	23895212	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011730
single nucleotide variant	NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly)	MYH7	Pathogenic	14	23895023	23895023	G	C	reviewed by expert panel	ClinGen:CA011843,UniProtKB:P12883#VAR_020812

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