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_020778.5(ALPK3):c.1417del (p.Gln473fs)	ALPK3	Pathogenic	15	85383922	85383922	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7709182
single nucleotide variant	NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)	FLNC	Pathogenic/Likely pathogenic	7	128485076	128485076	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA369197234
Deletion	NM_001018005.1(TPM1):c.640_645del	TPM1	Likely pathogenic	15	63354413	63354418	AGTACTC	A	criteria provided, single submitter	ClinGen:CA645372573
single nucleotide variant	NM_001276345.2(TNNT2):c.445C>A (p.Arg149Ser)	TNNT2	Likely pathogenic	1	201333470	201333470	G	T	criteria provided, single submitter	ClinGen:CA089867
single nucleotide variant	NM_001103.4(ACTN2):c.352G>T (p.Gly118Cys)	ACTN2	Likely pathogenic	1	236882304	236882304	G	T	criteria provided, single submitter	ClinGen:CA345373687
single nucleotide variant	NM_001267550.2(TTN):c.99712C>T (p.Gln33238Ter)	TTN	Pathogenic	2	179402222	179402222	G	A	criteria provided, single submitter	ClinGen:CA349427624
single nucleotide variant	NM_001267550.2(TTN):c.89197+1G>C	TTN	Pathogenic/Likely pathogenic	2	179418640	179418640	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA349520239
Deletion	NM_001267550.2(TTN):c.81243_81261del (p.Thr27082fs)	TTN	Pathogenic/Likely pathogenic	2	179429598	179429616	GATCTTTTGAGATTGATGTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA1989233
single nucleotide variant	NM_001267550.2(TTN):c.79141A>T (p.Lys26381Ter)	TTN	Likely pathogenic	2	179431718	179431718	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA349599445
Deletion	NM_001267550.2(TTN):c.75663del (p.Lys25221fs)	TTN	Pathogenic/Likely pathogenic	2	179435196	179435196	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA538435329

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