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.47961del (p.Gly15988fs)	TTN	Pathogenic	2	179481655	179481655	CT	C	criteria provided, single submitter	ClinGen:CA658796075
single nucleotide variant	NM_001267550.2(TTN):c.20836+1G>A	TTN	Pathogenic	2	179590094	179590094	C	T	criteria provided, single submitter	ClinGen:CA349540437
Deletion	NM_000256.3(MYBPC3):c.2190del (p.Lys731fs)	MYBPC3	Likely pathogenic	11	47360189	47360189	TG	T	criteria provided, single submitter	ClinGen:CA658797628
Duplication	NM_000256.3(MYBPC3):c.1622dup (p.Glu542fs)	MYBPC3	Pathogenic/Likely pathogenic	11	47364130	47364131	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797632
Indel	NM_000256.3(MYBPC3):c.221C>TT	MYBPC3	Pathogenic/Likely pathogenic	11	47372861	47372861	G	AA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797648
single nucleotide variant	NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter)	TTN	Likely pathogenic	2	179417634	179417634	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349514407
Duplication	NM_001267550.2(TTN):c.89084dup (p.Thr29696fs)	TTN	Likely pathogenic	2	179418753	179418754	T	TA	criteria provided, single submitter	ClinGen:CA658795973
Duplication	NM_001267550.2(TTN):c.80044_80047dup (p.Thr26683fs)	TTN	Likely pathogenic	2	179430811	179430812	G	GTGTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658796023
Deletion	NM_001267550.2(TTN):c.78977del (p.Lys26326fs)	TTN	Likely pathogenic	2	179431882	179431882	CT	C	criteria provided, single submitter	ClinGen:CA658796026
single nucleotide variant	NM_001267550.2(TTN):c.74829T>G (p.Tyr24943Ter)	TTN	Likely pathogenic	2	179436030	179436030	A	C	criteria provided, single submitter	ClinGen:CA349630890

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