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_000257.4(MYH7):c.2539A>G (p.Lys847Glu)	MYH7	Pathogenic	14	23894118	23894118	T	C	reviewed by expert panel	ClinGen:CA012578
single nucleotide variant	NM_000257.4(MYH7):c.2513C>A (p.Pro838Gln)	MYH7	Likely pathogenic	14	23894144	23894144	G	T	criteria provided, single submitter	ClinGen:CA012505
single nucleotide variant	NM_000257.4(MYH7):c.2347C>G (p.Arg783Gly)	MYH7	Likely pathogenic	14	23894567	23894567	G	C	criteria provided, single submitter	ClinGen:CA012174
single nucleotide variant	NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg)	MYH7	Pathogenic/Likely pathogenic	14	23894612	23894612	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:P12883#VAR_019859,ClinGen:CA012108
single nucleotide variant	NM_000257.4(MYH7):c.2246T>A (p.Leu749Gln)	MYH7	Likely pathogenic	14	23894944	23894944	A	T	criteria provided, single submitter	ClinGen:CA012055
single nucleotide variant	NM_000257.4(MYH7):c.2129C>A (p.Pro710His)	MYH7	Likely pathogenic	14	23895206	23895206	G	T	reviewed by expert panel	ClinGen:CA011747
single nucleotide variant	NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly)	MYH7	Pathogenic	14	23896451	23896451	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011498
single nucleotide variant	NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys)	MYH7	Likely pathogenic	14	23896856	23896856	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011319
single nucleotide variant	NM_000257.4(MYH7):c.1549C>A (p.Leu517Met)	MYH7	Likely pathogenic	14	23897738	23897738	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010927,UniProtKB:P12883#VAR_029435
single nucleotide variant	NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser)	MYH7	Pathogenic/Likely pathogenic	14	23897851	23897851	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA010759,UniProtKB:P12883#VAR_019852

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