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_000432.4(MYL2):c.64G>A (p.Glu22Lys)	MYL2	Pathogenic/Likely pathogenic	12	111356937	111356937	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010513,Leiden Muscular Dystrophy (MYL2):MYL2_00003,UniProtKB:P10916#VAR_004603,OMIM:160781.0002
single nucleotide variant	NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)	MYL2	Pathogenic	12	111352091	111352091	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA009915,Leiden Muscular Dystrophy (MYL2):MYL2_00005,UniProtKB:P10916#VAR_004604,OMIM:160781.0004
single nucleotide variant	NM_000432.4(MYL2):c.52T>C (p.Phe18Leu)	MYL2	Pathogenic/Likely pathogenic	12	111356949	111356949	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA010488,Leiden Muscular Dystrophy (MYL2):MYL2_00002,UniProtKB:P10916#VAR_004602,OMIM:160781.0005
single nucleotide variant	NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)	MYH7	Pathogenic	14	23898487	23898487	C	T	reviewed by expert panel	ClinGen:CA010365,UniProtKB:P12883#VAR_004574,OMIM:160760.0001
single nucleotide variant	NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)	MYH7	Pathogenic/Likely pathogenic	14	23900677	23900677	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016781,UniProtKB:P12883#VAR_004569,OMIM:160760.0002
single nucleotide variant	NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)	MYH7	Pathogenic	14	23898214	23898214	G	A	reviewed by expert panel	ClinGen:CA010630,UniProtKB:P12883#VAR_004576,OMIM:160760.0003
single nucleotide variant	NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)	MYH7	Pathogenic	14	23896932	23896932	C	G	reviewed by expert panel	ClinGen:CA011186,UniProtKB:P12883#VAR_004578,OMIM:160760.0004
single nucleotide variant	NM_000257.4(MYH7):c.1816G>A (p.Val606Met)	MYH7	Pathogenic/Likely pathogenic	14	23896866	23896866	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011311,UniProtKB:P12883#VAR_004581,OMIM:160760.0005,OMIM:160760.0025,ClinVar:487487
single nucleotide variant	NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)	MYH7	Pathogenic/Likely pathogenic	14	23893268	23893268	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013034,UniProtKB:P12883#VAR_004594,OMIM:160760.0006
single nucleotide variant	NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)	MYH7	Likely pathogenic	14	23893193	23893193	C	T	reviewed by expert panel	ClinGen:CA013144,UniProtKB:P12883#VAR_004598,OMIM:160760.0007

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