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.3293G>A (p.Trp1098Ter)	MYBPC3	Pathogenic	11	47354782	47354782	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA013817
Duplication	NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs)	MYBPC3	Pathogenic	11	47354777	47354778	A	AC	criteria provided, multiple submitters, no conflicts	ClinGen:CA013831
single nucleotide variant	NM_000256.3(MYBPC3):c.3330+5G>C	MYBPC3	Pathogenic/Likely pathogenic	11	47354740	47354740	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA013966
single nucleotide variant	NM_000256.3(MYBPC3):c.3330+5G>T	MYBPC3	Pathogenic/Likely pathogenic	11	47354740	47354740	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA013974
Duplication	NM_000256.3(MYBPC3):c.3476_3479dup (p.Pro1161fs)	MYBPC3	Pathogenic	11	47354375	47354376	G	GATAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA261323
single nucleotide variant	NM_000256.3(MYBPC3):c.3490+1G>A	MYBPC3	Pathogenic	11	47354364	47354364	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014233,OMIM:600958.0004
single nucleotide variant	NM_000256.3(MYBPC3):c.3491-2A>T	MYBPC3	Pathogenic/Likely pathogenic	11	47354255	47354255	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014265
Deletion	NM_000256.3(MYBPC3):c.350del (p.Pro117fs)	MYBPC3	Pathogenic	11	47372109	47372109	AG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA014290
Duplication	NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47354119	47354120	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA014487
Deletion	NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs)	MYBPC3	Pathogenic	11	47354120	47354120	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA014493

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