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.4259G>A (p.Arg1420Gln)	MYH7	Pathogenic/Likely pathogenic	14	23886806	23886806	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014728
single nucleotide variant	NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)	MYH7	Likely pathogenic	14	23901922	23901922	C	T	reviewed by expert panel	ClinGen:CA014774,UniProtKB:P12883#VAR_004568
single nucleotide variant	NM_000257.4(MYH7):c.438G>T (p.Lys146Asn)	MYH7	Pathogenic/Likely pathogenic	14	23901912	23901912	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014924,UniProtKB:P12883#VAR_042764
single nucleotide variant	NM_000257.4(MYH7):c.507A>T (p.Arg169Ser)	MYH7	Likely pathogenic	14	23901711	23901711	T	A	criteria provided, single submitter	ClinGen:CA015652
single nucleotide variant	NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys)	MYH7	Likely pathogenic	14	23884383	23884383	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016031
single nucleotide variant	NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys)	MYH7	Likely pathogenic	14	23884362	23884362	C	T	reviewed by expert panel	ClinGen:CA016087
single nucleotide variant	NM_000257.4(MYH7):c.5717C>G (p.Ala1906Gly)	MYH7	Likely pathogenic	14	23883041	23883041	G	C	criteria provided, single submitter	ClinGen:CA016404
single nucleotide variant	NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys)	MYH7	Likely pathogenic	14	23883018	23883018	C	T	reviewed by expert panel	ClinGen:CA016441
single nucleotide variant	NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)	MYH7	Pathogenic/Likely pathogenic	14	23901007	23901007	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA016526,UniProtKB:P12883#VAR_042768
single nucleotide variant	NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)	MYH7	Likely pathogenic	14	23900811	23900811	C	T	reviewed by expert panel	ClinGen:CA016679

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