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_016203.4(PRKAG2):c.1022T>C (p.Leu341Ser)	PRKAG2	Likely pathogenic	7	151269779	151269779	A	G	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs)	MYBPC3	Likely pathogenic	11	47354194	47354195	T	TG	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter)	MYBPC3	Likely pathogenic	11	47357551	47357551	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.2281C>T (p.Gln761Ter)	MYBPC3	Likely pathogenic	11	47360098	47360098	G	A	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.1393dup (p.Val465fs)	MYBPC3	Likely pathogenic	11	47364444	47364445	A	AC	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47370036	47370036	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000256.3(MYBPC3):c.342_343del (p.Gly115fs)	MYBPC3	Likely pathogenic	11	47372116	47372117	CCA	C	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.313del (p.Ala105fs)	MYBPC3	Pathogenic	11	47372146	47372146	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.2576T>C (p.Leu859Pro)	MYH7	Likely pathogenic	14	23894081	23894081	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.1400T>A (p.Ile467Asn)	MYH7	Pathogenic	14	23898171	23898171	A	T	criteria provided, single submitter	-

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