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_000256.3(MYBPC3):c.1351+1G>C	MYBPC3	Pathogenic	11	47364571	47364571	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16605932
single nucleotide variant	NM_020778.5(ALPK3):c.835G>T (p.Glu279Ter)	ALPK3	Pathogenic/Likely pathogenic	15	85383345	85383345	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606804
single nucleotide variant	NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)	MYH7	Pathogenic/Likely pathogenic	14	23883216	23883216	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606815
single nucleotide variant	NM_000257.4(MYH7):c.2222G>A (p.Gly741Glu)	MYH7	Pathogenic/Likely pathogenic	14	23894968	23894968	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16606949
single nucleotide variant	NM_020778.5(ALPK3):c.4499+5G>C	ALPK3	Likely pathogenic	15	85406876	85406876	G	C	criteria provided, single submitter	ClinGen:CA16607893
Deletion	NM_000256.3(MYBPC3):c.3324_3325del (p.Lys1108fs)	MYBPC3	Pathogenic	11	47354750	47354751	GTC	G	criteria provided, single submitter	ClinGen:CA16609416
Indel	NM_001267550.2(TTN):c.102796_102798delinsTATA (p.Asn34266fs)	TTN	Likely pathogenic	2	179398544	179398546	ATT	TATA	criteria provided, single submitter	ClinGen:CA16610191
single nucleotide variant	NM_001267550.2(TTN):c.103374C>A (p.Tyr34458Ter)	TTN	Likely pathogenic	2	179397968	179397968	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16610211
single nucleotide variant	NM_001267550.2(TTN):c.102061C>T (p.Gln34021Ter)	TTN	Likely pathogenic	2	179399281	179399281	G	A	criteria provided, single submitter	ClinGen:CA16610212
single nucleotide variant	NM_001267550.2(TTN):c.95805C>A (p.Tyr31935Ter)	TTN	Likely pathogenic	2	179409151	179409151	G	T	criteria provided, single submitter	ClinGen:CA16610217

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