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
Duplication	NM_000256.3(MYBPC3):c.1168dup (p.His390fs)	MYBPC3	Likely pathogenic	11	47365097	47365098	T	TG	criteria provided, single submitter	-
Duplication	NM_000256.3(MYBPC3):c.1101_1129dup (p.Lys377delinsArgSerTrpSerArgProThrArgTer)	MYBPC3	Likely pathogenic	11	47365136	47365137	T	TTGCTCACCTGGTAGGCCGGCTCCAGCTTC	criteria provided, single submitter	-
single nucleotide variant	NM_000256.3(MYBPC3):c.711C>G (p.Tyr237Ter)	MYBPC3	Pathogenic	11	47370036	47370036	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp)	ACTC1	Pathogenic/Likely pathogenic	15	35084359	35084359	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000363.5(TNNI3):c.485G>T (p.Arg162Leu)	TNNI3	Likely pathogenic	19	55665462	55665462	C	A	criteria provided, single submitter	-
Indel	NM_001267550.2(TTN):c.54382-12_54387delinsCT	TTN	Likely pathogenic	2	179469027	179469044	CCAGATCTAGAAATTAGA	AG	criteria provided, single submitter	-
Deletion	NM_000256.3(MYBPC3):c.2766del (p.Gly922_Leu923insTer)	MYBPC3	Pathogenic	11	47356732	47356732	GC	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000257.4(MYH7):c.3985dup (p.Leu1329fs)	MYH7	Likely pathogenic	14	23887602	23887603	A	AG	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.195T>G (p.Tyr65Ter)	MYH7	Pathogenic	14	23902747	23902747	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.49287C>A (p.Asn16429Lys)	TTN	Likely pathogenic	2	179478837	179478837	G	T	criteria provided, single submitter	-

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