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.2711G>A (p.Arg904His)	MYH7	Pathogenic	14	23893327	23893327	C	T	reviewed by expert panel	ClinGen:CA012913
single nucleotide variant	NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro)	MYH7	Likely pathogenic	14	23893294	23893294	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013003
single nucleotide variant	NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys)	MYH7	Pathogenic/Likely pathogenic	14	23893259	23893259	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013043,UniProtKB:P12883#VAR_042816
single nucleotide variant	NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys)	MYH7	Pathogenic	14	23893250	23893250	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013078,UniProtKB:P12883#VAR_004595
single nucleotide variant	NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu)	MYH7	Likely pathogenic	14	23891500	23891500	C	A	reviewed by expert panel	ClinGen:CA013375
single nucleotide variant	NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser)	MYH7	Likely pathogenic	14	23891465	23891465	C	T	reviewed by expert panel	ClinGen:CA013436,UniProtKB:P12883#VAR_042821
single nucleotide variant	NM_000257.4(MYH7):c.3578G>A (p.Arg1193His)	MYH7	Likely pathogenic	14	23889202	23889202	C	T	reviewed by expert panel	ClinGen:CA013815
single nucleotide variant	NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met)	MYH7	Pathogenic	14	23887458	23887458	G	A	reviewed by expert panel	ClinGen:CA014494,UniProtKB:P12883#VAR_019867
single nucleotide variant	NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr)	MYH7	Pathogenic/Likely pathogenic	14	23887453	23887453	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014503,UniProtKB:P12883#VAR_019868
single nucleotide variant	NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)	MYH7	Likely pathogenic	14	23886807	23886807	G	A	reviewed by expert panel	ClinGen:CA014718,UniProtKB:P12883#VAR_042825

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