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
Indel	NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47361269	47361270	AG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA011614
single nucleotide variant	NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47362717	47362717	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA011370
Deletion	NM_000256.3(MYBPC3):c.1678del (p.Asp560fs)	MYBPC3	Pathogenic	11	47363654	47363654	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010909
Deletion	NM_000256.3(MYBPC3):c.1628del (p.Lys543fs)	MYBPC3	Pathogenic	11	47363704	47363704	CT	C	criteria provided, single submitter	ClinGen:CA010821
single nucleotide variant	NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln)	MYBPC3	Pathogenic/Likely pathogenic	11	47364269	47364269	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010464,UniProtKB:Q14896#VAR_027880
single nucleotide variant	NM_000256.3(MYBPC3):c.1351+1G>A	MYBPC3	Pathogenic/Likely pathogenic	11	47364571	47364571	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA010136
single nucleotide variant	NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter)	MYBPC3	Pathogenic	11	47365056	47365056	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009860
single nucleotide variant	NM_000256.3(MYBPC3):c.1090+1G>T	MYBPC3	Pathogenic	11	47367757	47367757	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009753
single nucleotide variant	NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter)	MYBPC3	Pathogenic	11	47367848	47367848	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA009672
single nucleotide variant	NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter)	MYBPC3	Pathogenic	11	47367849	47367849	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA016252

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