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_004168.4(SDHA):c.28del (p.Leu10fs)	SDHA	Pathogenic	5	218498	218498	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.508C>T (p.Gln170Ter)	SDHA	Pathogenic	5	226049	226049	C	T	criteria provided, single submitter	-
Indel	NM_004168.4(SDHA):c.619_620delinsC (p.Ser208fs)	SDHA	Pathogenic	5	226160	226161	AG	C	criteria provided, single submitter	-
Indel	NM_004168.4(SDHA):c.942_945delinsTCC (p.Glu314fs)	SDHA	Pathogenic	5	233638	233641	GGGA	TCC	criteria provided, single submitter	-
single nucleotide variant	NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter)	SDHA	Pathogenic	5	235452	235452	C	T	criteria provided, single submitter	-
Deletion	NM_004168.4(SDHA):c.1579del (p.Arg527fs)	SDHA	Pathogenic/Likely pathogenic	5	251133	251133	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.2023+1G>A	SCN5A	Likely pathogenic	3	38640408	38640408	C	T	criteria provided, single submitter	ClinGen:CA352144955
single nucleotide variant	NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter)	SCN5A	Likely pathogenic	3	38622682	38622682	G	A	criteria provided, single submitter	ClinGen:CA352140043
single nucleotide variant	NM_000335.5(SCN5A):c.1A>T (p.Met1Leu)	SCN5A	Likely pathogenic	3	38674798	38674798	T	A	criteria provided, single submitter	ClinGen:CA352159669
Deletion	NM_000335.5(SCN5A):c.1613del (p.Gly538fs)	SCN5A	Pathogenic/Likely pathogenic	3	38645480	38645480	AC	A	criteria provided, single submitter	ClinGen:CA658796278

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