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_001267550.2(TTN):c.2089A>T (p.Lys697Ter)	TTN	Likely pathogenic	2	179650856	179650856	T	A	criteria provided, single submitter	ClinGen:CA349502198
Deletion	NM_000256.3(MYBPC3):c.3627+2del	MYBPC3	Pathogenic	11	47354115	47354115	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797619
single nucleotide variant	NM_000256.3(MYBPC3):c.3491-2A>C	MYBPC3	Likely pathogenic	11	47354255	47354255	T	G	criteria provided, single submitter	ClinGen:CA380312951
single nucleotide variant	NM_000256.3(MYBPC3):c.3331-1G>C	MYBPC3	Pathogenic/Likely pathogenic	11	47354525	47354525	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA380313881
single nucleotide variant	NM_000256.3(MYBPC3):c.3330+1G>T	MYBPC3	Pathogenic/Likely pathogenic	11	47354744	47354744	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA380314001
single nucleotide variant	NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter)	MYBPC3	Pathogenic	11	47354781	47354781	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA053346
Insertion	NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs)	MYBPC3	Pathogenic	11	47354846	47354847	C	CA	criteria provided, single submitter	ClinGen:CA658797620
Insertion	NM_000256.3(MYBPC3):c.2604_2605insA (p.Pro869fs)	MYBPC3	Pathogenic	11	47357560	47357561	G	GT	criteria provided, single submitter	ClinGen:CA658797622
Deletion	NM_000256.3(MYBPC3):c.2451del (p.Trp818fs)	MYBPC3	Pathogenic	11	47359093	47359093	AC	A	criteria provided, single submitter	ClinGen:CA658797624
Deletion	NM_000256.3(MYBPC3):c.2310del (p.Asp770fs)	MYBPC3	Pathogenic	11	47359344	47359344	CG	C	criteria provided, single submitter	ClinGen:CA658797627

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