エメリー・ドレイフス型筋ジストロフィー - MGenReviews

エメリー・ドレイフス型筋ジストロフィー

小児・神経疾患

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_170707.4(LMNA):c.4G>T (p.Glu2Ter)	LMNA	Pathogenic	1	156084713	156084713	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_170707.4(LMNA):c.73del (p.Arg25fs)	LMNA	Pathogenic	1	156084780	156084780	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1184C>A (p.Ser395Ter)	LMNA	Pathogenic	1	156106031	156106031	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_170707.4(LMNA):c.91G>A (p.Glu31Lys)	LMNA	Pathogenic	1	156084800	156084800	G	A	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.810+32_1323del	LMNA	Pathogenic	1	156104795	156106167	TGCCTCTGCCCTTGGCAGCCCTACCCTTACCCACGCTGGGCTATGCCTTCTGGGGATCAGGCAGATGGTGGCAGGGAGCTCAGGGTGGCCCAGGACCTGGGGCTGTAGCAGTGATGCCCAACTCAGGCCTGTGCCTCCACCCCTCCCAGTCACCACAGTCCTAACCCTTTGTCCTCCCCTCCAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGGTGATACCCCACCTCACCCCTCTCTCCAGGGGCCTAGAGTCTGGGCCGGATGCAGGCTGGAAGCCCAGGGTTGGGGGTGGGGGTGGGGGTGGGAGGTTCCTGAGGAGGAGAGGGATGAAAAGTGTCCCCACAACCACAGAGAAGGGTCGCAGGATGTGGAGTCAGATGGCCTGTGTGCTGTTTCTGTACACTCTTACCTCACCTTCACTTCTCAGGGCTTTGGTTTTCCCATTCGAAAATGGAGGCTGTTCTTAATCTCCCTAACTCAGAGTTGCCACAGGACTCTGCAATGTGAGGTGTTAAAAGCATCAGTATTTTTCTAGTTGGCTGTGCTATTTGTGACAGGAGAAAAAGTCTAGCCTCAGAACGAGAGGTTTCAGTTAGACAAGGGGAAGGACTTCCCAGTTGCCAGCCAAGACTATGTTTAGAGCTTGTGATGTTCAGAGCTGGCTCTGATGAGGGCTCTGGGGAAGCTCTGATTGCAGATCCTGGAGAGAGTAGCCAGGTGTCTCCTACACCGACCCACGTCCCTCCTTCCCCATACTTAGGGCCCTTGGGAGCTCACCAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGGAGAGGTGGGCTGGGGAGACGTCGGGGAGGTGCTGGCAGTGTCCTCTGGCCGGCAACTGGCCTTGACTAGACCCCCACTTGGTCTCCCTCTCCCCAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTG	T	criteria provided, single submitter	-
Indel	NM_170707.4(LMNA):c.1587_1588delinsCT (p.Leu530Phe)	LMNA	Pathogenic	1	156107002	156107003	TC	CT	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.184C>T (p.Arg62Cys)	LMNA	Likely pathogenic	1	156084893	156084893	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)	SYNE1	Pathogenic	6	152629755	152629755	G	A	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_153607825)_(153609577_?)del	EMD	Pathogenic	X	153607825	153609577	na	na	criteria provided, single submitter	-
Duplication	NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)	FHL1	Pathogenic	X	135289975	135289976	G	GGACC	criteria provided, multiple submitters, no conflicts	-

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