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_000257.4(MYH7):c.2459C>A (p.Ala820Asp)	MYH7	Pathogenic	14	23894198	23894198	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.2200C>G (p.Gln734Glu)	MYH7	Likely pathogenic	14	23894990	23894990	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.1751G>T (p.Gly584Val)	MYH7	Likely pathogenic	14	23896931	23896931	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000257.4(MYH7):c.1711G>C (p.Gly571Arg)	MYH7	Pathogenic	14	23896971	23896971	C	G	criteria provided, single submitter	-
Deletion	NM_020778.5(ALPK3):c.2237del (p.Gly746fs)	ALPK3	Pathogenic	15	85400204	85400204	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_020778.5(ALPK3):c.2938G>T (p.Gly980Ter)	ALPK3	Pathogenic	15	85400907	85400907	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.88895-1G>A	TTN	Likely pathogenic	2	179418944	179418944	C	T	criteria provided, single submitter	-
Indel	NM_001267550.2(TTN):c.54314_54381+139delinsATAAGG	TTN	Likely pathogenic	2	179469296	179469502	AAACACTACAATAACAAAATAACAGCTTATCGTGTGTGGTTTTGAGTTTAATTATCAAATTCCAAGGTTATATTAAAATGGCATCAAACCAGAGTCATGTACTTTTAATGTGTATAAGAAAATATTCAGAAGAGTTTACCCCATATCTTTTCTCTACAGCAGTGTTGGTGACTTCCTCCCATTCTGCTTTCTTCCTACTTGCATCAC	CCTTAT	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.89197+2T>G	TTN	Likely pathogenic	2	179418639	179418639	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001267550.2(TTN):c.51436+1G>T	TTN	Pathogenic	2	179474816	179474816	C	A	criteria provided, single submitter	-

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