特発性拡張型心筋症 - MGenReviews

特発性拡張型心筋症

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_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_020297.4(ABCC9):c.3656T>G (p.Leu1219Arg)	ABCC9	Likely pathogenic	12	21981905	21981905	A	C	criteria provided, single submitter	ClinGen:CA16619501
single nucleotide variant	NM_020297.4(ABCC9):c.3637T>G (p.Ser1213Ala)	ABCC9	Likely pathogenic	12	21981924	21981924	A	C	criteria provided, single submitter	ClinGen:CA16619502
single nucleotide variant	NM_020297.4(ABCC9):c.1385T>C (p.Val462Ala)	ABCC9	Likely pathogenic	12	22061081	22061081	A	G	criteria provided, single submitter	ClinGen:CA16619503
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_001943.5(DSG2):c.91del (p.Thr31fs)	DSG2	Pathogenic/Likely pathogenic	18	29099775	29099775	CA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA050469
single nucleotide variant	NM_001943.5(DSG2):c.2349C>A (p.Tyr783Ter)	DSG2	Pathogenic/Likely pathogenic	18	29125698	29125698	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620680
Deletion	NM_001943.5(DSG2):c.2358del (p.Asp787fs)	DSG2	Likely pathogenic	18	29125706	29125706	GA	G	criteria provided, single submitter	ClinGen:CA16620681

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