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.2603-1G>C	MYBPC3	Pathogenic/Likely pathogenic	11	47357563	47357563	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619337
Deletion	NM_000256.3(MYBPC3):c.2058del (p.Ile687fs)	MYBPC3	Pathogenic	11	47361211	47361211	TA	T	criteria provided, single submitter	ClinGen:CA16619339
Deletion	NM_000256.3(MYBPC3):c.1809del (p.Ile603fs)	MYBPC3	Likely pathogenic	11	47362777	47362777	CA	C	criteria provided, single submitter	ClinGen:CA16619340
single nucleotide variant	NM_000256.3(MYBPC3):c.1621C>T (p.Gln541Ter)	MYBPC3	Pathogenic	11	47364132	47364132	G	A	criteria provided, single submitter	ClinGen:CA16619341
Deletion	NM_000256.3(MYBPC3):c.978del (p.Gln327fs)	MYBPC3	Pathogenic	11	47367870	47367870	GC	G	criteria provided, single submitter	ClinGen:CA16619342
single nucleotide variant	NM_000256.3(MYBPC3):c.747C>A (p.Cys249Ter)	MYBPC3	Pathogenic/Likely pathogenic	11	47370000	47370000	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16619343
Deletion	NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs)	MYBPC3	Pathogenic	11	47372983	47372984	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA057700
single nucleotide variant	NM_001018005.2(TPM1):c.289G>C (p.Glu97Gln)	TPM1	Likely pathogenic	15	63349232	63349232	G	C	criteria provided, single submitter	ClinGen:CA16619983
Deletion	NM_020778.5(ALPK3):c.528del (p.Ile177fs)	ALPK3	Pathogenic	15	85383038	85383038	AG	A	criteria provided, single submitter	ClinGen:CA16620013
single nucleotide variant	NM_020778.5(ALPK3):c.1093C>T (p.Gln365Ter)	ALPK3	Pathogenic/Likely pathogenic	15	85383603	85383603	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7709121

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