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
Duplication	NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs)	ALPK3	Pathogenic/Likely pathogenic	15	85401543	85401544	T	TC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001276345.2(TNNT2):c.609+1del	TNNT2	Likely pathogenic	1	201331513	201331513	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_001458.5(FLNC):c.7561+1G>A	FLNC	Likely pathogenic	7	128496976	128496976	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.1457+2T>G	MYBPC3	Likely pathogenic	11	47364379	47364379	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.655-2A>C	MYBPC3	Pathogenic	11	47370094	47370094	T	G	criteria provided, single submitter	-
Deletion	NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs)	TTN	Likely pathogenic	2	179466182	179466183	CAT	C	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.1367del (p.Ile456fs)	MYBPC3	Pathogenic	11	47364471	47364471	GA	G	criteria provided, single submitter	-
Duplication	NM_133379.5(TTN):c.14304dup (p.Ala4769fs)	TTN	Likely pathogenic	2	179612822	179612823	C	CT	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter)	TTN	Likely pathogenic	2	179393094	179393094	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs)	TTN	Likely pathogenic	2	179395226	179395227	T	TAA	criteria provided, multiple submitters, no conflicts	-

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