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.56648-1G>A	TTN	Likely pathogenic	2	179463790	179463790	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.56347+1G>A	TTN	Likely pathogenic	2	179464280	179464280	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001276345.2(TNNT2):c.294T>A (p.Asp98Glu)	TNNT2	Likely pathogenic	1	201334738	201334738	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.104947C>T (p.Gln34983Ter)	TTN	Likely pathogenic	2	179396395	179396395	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)	TTN	Likely pathogenic	2	179428334	179428334	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001267550.2(TTN):c.80950G>T (p.Glu26984Ter)	TTN	Likely pathogenic	2	179429909	179429909	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000256.3(MYBPC3):c.773-2A>T	MYBPC3	Likely pathogenic	11	47369458	47369458	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.622C>T (p.Gln208Ter)	MYBPC3	Likely pathogenic	11	47371357	47371357	G	A	criteria provided, single submitter	-
Deletion	NM_020778.5(ALPK3):c.4391del (p.Asn1464fs)	ALPK3	Pathogenic/Likely pathogenic	15	85406125	85406125	GA	G	criteria provided, multiple submitters, no conflicts	-

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