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
Deletion	NM_001267550.2(TTN):c.52576_52603del (p.Asn17525_Ala17526insTer)	TTN	Likely pathogenic	2	179473007	179473034	AATAAGCCATCTACATTGGCTTTCAAGGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610476
single nucleotide variant	NM_001267550.2(TTN):c.15496+1G>T	TTN	Pathogenic/Likely pathogenic	2	179599054	179599054	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610517
Deletion	NC_000011.10:g.(?_47349774)_(47351505_?)del	MYBPC3	Pathogenic	11	47371325	47373056	na	na	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_47331845)_(47336011_?)del	MYBPC3	Pathogenic	11	47353396	47357562	na	na	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.3665del (p.Gly1222fs)	MYBPC3	Pathogenic	11	47353772	47353772	TC	T	criteria provided, single submitter	ClinGen:CA16613340
Deletion	NM_000256.3(MYBPC3):c.3617del (p.Gly1206fs)	MYBPC3	Pathogenic	11	47354127	47354127	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16613343
Insertion	NM_000256.3(MYBPC3):c.2572_2573insAA (p.Ser858fs)	MYBPC3	Pathogenic	11	47358971	47358972	C	CTT	criteria provided, single submitter	ClinGen:CA16613382
Deletion	NM_000256.3(MYBPC3):c.2279del (p.Asp760fs)	MYBPC3	Pathogenic	11	47360100	47360100	GT	G	criteria provided, single submitter	ClinGen:CA16613383
Indel	NM_000256.3(MYBPC3):c.257_259delinsGGAGG (p.Ser86fs)	MYBPC3	Pathogenic	11	47372823	47372825	TGG	CCTCC	criteria provided, single submitter	ClinGen:CA16613417
Deletion	NC_000012.12:g.(?_110910819)_(110911175_?)del	MYL2	Pathogenic	12	111348623	111348979	na	na	criteria provided, single submitter	-

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