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.57111_57111+9del	TTN	Likely pathogenic	2	179463224	179463233	GTTTTCCTACC	G	criteria provided, single submitter	ClinGen:CA658657153
Deletion	NM_001267550.2(TTN):c.53259del (p.Lys17753fs)	TTN	Likely pathogenic	2	179472156	179472156	AT	A	criteria provided, single submitter	ClinGen:CA658657162
single nucleotide variant	NM_001267550.2(TTN):c.55972C>T (p.Arg18658Ter)	TTN	Likely pathogenic	2	179465659	179465659	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1993353
Deletion	NM_001267550.2(TTN):c.55156_55165del (p.Asp18386fs)	TTN	Likely pathogenic	2	179466833	179466842	ACCAGACAGTC	A	criteria provided, single submitter	ClinGen:CA658657145
single nucleotide variant	NM_001267550.2(TTN):c.54812-1G>T	TTN	Likely pathogenic	2	179467318	179467318	C	A	criteria provided, single submitter	ClinGen:CA349547316
Duplication	NM_001267550.2(TTN):c.46843dup (p.Thr15615fs)	TTN	Likely pathogenic	2	179483433	179483434	G	GT	criteria provided, single submitter	ClinGen:CA658657157
Duplication	NM_001267550.2(TTN):c.53848dup (p.Leu17950fs)	TTN	Likely pathogenic	2	179470173	179470174	A	AG	criteria provided, single submitter	ClinGen:CA658657161
Duplication	NM_001267550.2(TTN):c.51234_51237dup (p.Leu17080fs)	TTN	Likely pathogenic	2	179475015	179475016	G	GAATT	criteria provided, single submitter	ClinGen:CA658657158
single nucleotide variant	NM_001267550.2(TTN):c.47894T>A (p.Leu15965Ter)	TTN	Likely pathogenic	2	179481722	179481722	A	T	criteria provided, single submitter	ClinGen:CA349612840
Deletion	NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs)	TTN	Likely pathogenic	2	179542362	179542386	TGGCACCTTAGGTTTAACTTCTGGAA	T	criteria provided, single submitter	ClinGen:CA658657169

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