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_003172.4(SURF1):c.833+1G>A	SURF1	Pathogenic	9	136218915	136218915	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)	PMP2	Pathogenic/Likely pathogenic	8	82357143	82357143	A	G	criteria provided, multiple submitters, no conflicts	OMIM:170715.0002
single nucleotide variant	NM_007126.5(VCP):c.409C>T (p.Pro137Ser)	VCP	Likely pathogenic	9	35066708	35066708	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000188.3(HK1):c.1252A>G (p.Lys418Glu)	HK1	Likely pathogenic	10	71139838	71139838	A	G	criteria provided, multiple submitters, no conflicts	OMIM:142600.0007
single nucleotide variant	NM_007289.4(MME):c.1666C>T (p.Pro556Ser)	MME	Likely pathogenic	3	154884696	154884696	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_007289.4(MME):c.1972G>A (p.Ala658Thr)	MME	Likely pathogenic	3	154886578	154886578	G	A	criteria provided, single submitter	-
Deletion	NM_024577.4(SH3TC2):c.2640del (p.Asn881fs)	SH3TC2	Likely pathogenic	5	148406655	148406655	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_018706.7(DHTKD1):c.1543C>A (p.Pro515Thr)	DHTKD1	Likely pathogenic	10	12139867	12139867	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_018972.4(GDAP1):c.767A>G (p.His256Arg)	GDAP1	Pathogenic	8	75276292	75276292	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000304.4(PMP22):c.307C>T (p.Gln103Ter)	PMP22	Pathogenic	17	15142800	15142800	G	A	criteria provided, single submitter	-

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