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_001267550.2(TTN):c.71202dup (p.Lys23735fs)	TTN	Pathogenic/Likely pathogenic	2	179439656	179439657	T	TG	criteria provided, multiple submitters, no conflicts	ClinGen:CA430257756
Deletion	NM_001267550.2(TTN):c.60902del (p.Ser20301fs)	TTN	Likely pathogenic	2	179455550	179455550	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657141
Deletion	NM_001267550.2(TTN):c.57849del (p.Val19284fs)	TTN	Likely pathogenic	2	179459372	179459372	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA1992974
single nucleotide variant	NM_000256.3(MYBPC3):c.2738-1G>A	MYBPC3	Likely pathogenic	11	47356761	47356761	C	T	criteria provided, single submitter	ClinGen:CA380316885
single nucleotide variant	NM_000256.3(MYBPC3):c.2526C>A (p.Tyr842Ter)	MYBPC3	Pathogenic	11	47359018	47359018	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA380318189
single nucleotide variant	NM_000256.3(MYBPC3):c.2067+1G>A	MYBPC3	Pathogenic	11	47361201	47361201	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA380321286
single nucleotide variant	NM_000257.4(MYH7):c.1052A>C (p.Lys351Thr)	MYH7	Likely pathogenic	14	23899070	23899070	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA389051463
single nucleotide variant	NM_020778.5(ALPK3):c.2407C>T (p.Gln803Ter)	ALPK3	Likely pathogenic	15	85400376	85400376	C	T	criteria provided, single submitter	ClinGen:CA393357038
single nucleotide variant	NM_001276345.2(TNNT2):c.565T>G (p.Ser189Ala)	TNNT2	Likely pathogenic	1	201332459	201332459	A	C	criteria provided, single submitter	ClinGen:CA35420183
Deletion	NM_001267550.2(TTN):c.99588_99595del (p.Phe33196fs)	TTN	Likely pathogenic	2	179402339	179402346	CCAGGATGG	C	criteria provided, single submitter	ClinGen:CA658657126

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