シャルコー・マリー・トゥース病 - MGenReviews

シャルコー・マリー・トゥース病

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.640-2A>G	LMNA	Likely pathogenic	1	156104594	156104594	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.357-2A>G	LMNA	Pathogenic	1	156100406	156100406	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.811-1G>A	LMNA	Likely pathogenic	1	156104977	156104977	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.68-1G>A	MPZ	Pathogenic/Likely pathogenic	1	161277215	161277215	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000005.10:g.(?_149047842)_(149048009_?)del	SH3TC2	Pathogenic	5	148427405	148427572	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_024577.4(SH3TC2):c.3054-2A>C	SH3TC2	Likely pathogenic	5	148392299	148392299	T	G	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_127501000)_(127501153_?)del	LRSAM1	Pathogenic	9	130263279	130263432	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_006096.4(NDRG1):c.326+1G>A	NDRG1	Likely pathogenic	8	134274289	134274289	C	T	criteria provided, single submitter	-
Deletion	NM_001005373.4(LRSAM1):c.849_1088+565del	LRSAM1	Likely pathogenic	9	130241728	130244069	CCAGCTCCTTCAGCAGAGCAGCAGCCAGAAGGATGAGATCCTTCAGACGGTCAAGGAGGTTTGTGAGCCGCCTGCTAGGGTCCAGCCTGGCTGCATCCCCCAGCCAGTGGCCTCCTGGCTTGGGCCAAGGTCCCTCGGATGTGGAAAGGCAGTGGGATGAAGCTGTCACTTCCTTCTGTCCCCCAGCACCTGGGAGGGCCCTTACAGATCACCCAGCCCAGCCTCCCCGTGTGCAGATGGACACTGTAGCCTACTGGGAGGAGCTGGCCGGAGGTCACACAAAAAGGATTGGCAAGGCAGGGTGGGAAAGCCAGCCTCCTAACCCCAGTCAGTACCCCTCACGGCGTCTGAGGGGGTCCCAGGGGCTCAGGACCCCTACCTCCGGCTGCAGGAGCAGTCCCGGCTGGAGCAGGGCCTGAGTGAGCACCAGCGCCACCTCAACGCAGAGCGGCAGCGGCTGCAGGAGCAGCTGAAGCAGACGGAACAGAACATTTCCAGCCGGATCCAGAAGCTGCTGCAGGACAATCAGAGGTTGGGCTCTGCTCCTCGGCCCCAGCCCCAGAGTCCTTCCCCGTGCAGTCCCCTGAGGAGCCGGGAGGAGTGTGTTTCTCCCTCACTGCCTCTGCCCCTGCCCCGGGCTTCCCTTGTCAGGATCCAGTCTGGGTGCTTCAACTGGCACCAGCGTAGAGAGAAAAGAATCTGACCCAGTCATTACAAAGTCTGGTTTCTTAGCATGAGACTGCTACCAGATTGGACCTGTGGCCTCGGGCAAATGTTTCCCCACTGGGCCCCAAGCTTCCCATCTATAAAGTGAGTGGGTTTGACAAGATAGTTGGGATCACATCCTGCTCCAGTATTTTGGGTTCTGCGTAACCCGTTGCACTGAGGTCAGCTGTTCACCTGTAGTGAGATTTGCCTTAACAAACCCTGTGCAAGGTACGAGCTAGTAAGAGCAGATCTTGATGGGGCTGGGGAGACATGGCGCCAGAAAAGCCTGAGAAGTCTAGTGAGGGGGCCCATTGCAGGATGATTCCAGAAACAGGCTCCAGCCATATGCCCTGCCACTTCCAGGCCTCTTTTTTCTAACCCTGAATCACTCGTTCCTCCCTCACCTGTCAGTTTCAAAAGTACCTGCATGAGTTCAGGAAACCAGTCATTTGTTGGATGCTTCTTATGTGCCAAGCTTGTTACATCTATTTCTTCATTAAGTCTTTACAAATGCACCAAGAAGCTGGGTTGTTTTCATTTTGTTTTGTTTGAGACAGAGTCTCGCTGTGTCACTGAGGCTGGAGTGCAGTGGTGTGCTCTCGGCTCACTGCAACCTCCTTCTCCCAGGTTCAAGCAATTCTCTTGCCTCAGCCTCCCAAGGAGCTGGGACTACAGGCTTGGGCCACCACGCCTGGCTAATTTTTGTAGAGATAAGGTTTCTCCATGTTGACCAGGCTGGTCTCGAACTCCTGACCTCAAGTGATCTATCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGATGTGAGCCACTGTGTCTGGCTGGGTTTTTTTATTCTTCTAATTTCATAGGTGAGGAAACCTGGGACTTGAGTGGTTTCAGTAACTGGCTAAGAACCCAGAGCTTCAAGGTGGTGGAGCCAAGGTGCCCCCAGCCCATTTCCTAAGCCCCTCTGCACAGCTAACGCAGTGAGACAGGAAACAGGCCTGCTGGTGACTGCCAGGACCTTTTATGATTTTCTCCACAGACAAAAGAAAAGCTCCGAGATTTTGAAATCGCTGGAAAATGAAAGGTAAGTGTTCTTCCAGGGGAGGGCAGCATTTTTTTTTTTTTTTTGAGACGGAGTCCTGCACTGTCGCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCAGTGCAACCCCCGCCGCCCAGGTCCAAGCAATTCCCCTGCCTCAGCCTCCCGAGTAGCTGGGACTATAGGCGCATACCACCACCAGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAACCAGGATGGTTTCGATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTCACAAAGTACTGGGATTGCAGGCGTGAGCCACTGCTCCCGGCCAAGGAGAGCAGCTTTGAGGGGAGAATGTCTTGTGATTCTCCAGAGGATTATGCCAGGACATTTCCCTAAAGCTATAAGGAGATTCACCTCCTTAGACGATATTTAATTACAAAGAATCATTGTCTTCAAGTTCATTAAAACATACGTACACTCCTGAAAAACATTCAGAGACATGAATAAGGCTAGATATATAATGTCCAACTATATTCCTAGTATAAAAAGTTCAGGCCAGGCGCAGTGGCT	C	criteria provided, single submitter	-
Deletion	NC_000011.10:g.(?_9780408)_(10042991_?)del	SBF2	Likely pathogenic	11	9801955	10064538	na	na	criteria provided, single submitter	-

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