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_000701.8(ATP1A1):c.1798C>G (p.Pro600Ala)	ATP1A1	Pathogenic	1	116937869	116937869	C	G	criteria provided, multiple submitters, no conflicts	OMIM:182310.0002
single nucleotide variant	NM_000701.8(ATP1A1):c.1798C>A (p.Pro600Thr)	ATP1A1	Likely pathogenic	1	116937869	116937869	C	A	criteria provided, single submitter	OMIM:182310.0003
single nucleotide variant	NM_000701.8(ATP1A1):c.1775T>C (p.Ile592Thr)	ATP1A1	Pathogenic	1	116937846	116937846	T	C	criteria provided, single submitter	OMIM:182310.0004
Deletion	NM_025137.4(SPG11):c.6971_6972del (p.Cys2324fs)	SPG11	Pathogenic	15	44858079	44858080	TAC	T	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.928G>A (p.Gly310Arg)	NAGLU	Likely pathogenic	17	40693131	40693131	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_002109.6(HARS1):c.397G>T (p.Val133Phe)	HARS1	Likely pathogenic	5	140058712	140058712	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_003172.4(SURF1):c.588+1G>A	SURF1	Pathogenic	9	136219548	136219548	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)	MPZ	Pathogenic/Likely pathogenic	1	161276701	161276701	T	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_020631.6(PLEKHG5):c.58del (p.Arg20fs)	PLEKHG5	Pathogenic	1	6536082	6536082	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_001540.5(HSPB1):c.415A>G (p.Thr139Ala)	HSPB1	Pathogenic	7	75933169	75933169	A	G	criteria provided, single submitter	-

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