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_000256.3(MYBPC3):c.235T>A (p.Tyr79Asn)	MYBPC3	Likely pathogenic	11	47372847	47372847	A	T	criteria provided, single submitter	ClinGen:CA012128
single nucleotide variant	NM_000256.3(MYBPC3):c.230G>A (p.Gly77Glu)	MYBPC3	Likely pathogenic	11	47372852	47372852	C	T	criteria provided, single submitter	ClinGen:CA012059
Deletion	NM_000256.3(MYBPC3):c.182del (p.Gly61fs)	MYBPC3	Pathogenic	11	47372900	47372900	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA011301
Deletion	NM_000256.3(MYBPC3):c.172del (p.Ala58fs)	MYBPC3	Pathogenic	11	47372910	47372910	GC	G	criteria provided, single submitter	ClinGen:CA011009
Deletion	NM_000257.4(MYH7):c.5659del (p.Glu1887fs)	MYH7	Likely pathogenic	14	23883099	23883099	TC	T	criteria provided, single submitter	ClinGen:CA016354
single nucleotide variant	NM_000257.4(MYH7):c.5398G>C (p.Ala1800Pro)	MYH7	Likely pathogenic	14	23884365	23884365	C	G	criteria provided, single submitter	ClinGen:CA016063
single nucleotide variant	NM_000257.4(MYH7):c.5254G>A (p.Glu1752Lys)	MYH7	Pathogenic/Likely pathogenic	14	23884619	23884619	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA015809,UniProtKB:P12883#VAR_072816
single nucleotide variant	NM_000257.4(MYH7):c.4664A>G (p.Glu1555Gly)	MYH7	Pathogenic	14	23885502	23885502	T	C	criteria provided, single submitter	ClinGen:CA015211,OMIM:160760.0050
single nucleotide variant	NM_000257.4(MYH7):c.4093A>G (p.Asn1365Asp)	MYH7	Likely pathogenic	14	23887495	23887495	T	C	criteria provided, single submitter	ClinGen:CA014452
Deletion	NM_000257.4(MYH7):c.3901_3903del (p.Leu1301del)	MYH7	Likely pathogenic	14	23888455	23888457	TCAG	T	criteria provided, single submitter	ClinGen:CA014209

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