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
Deletion	NM_030962.4(SBF2):c.20_21del (p.Tyr7fs)	SBF2	Pathogenic	11	10315596	10315597	AGT	A	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)	IGHMBP2	Pathogenic/Likely pathogenic	11	68702827	68702827	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000012.12:g.(?_32576352)_(32619876_?)del	FGD4	Pathogenic	12	32729286	32772810	na	na	criteria provided, single submitter	-
Deletion	NM_030962.4(SBF2):c.754_823del (p.Tyr252fs)	SBF2	Pathogenic	11	10022499	10022568	CCAATAATGAAAGGCGTTGGGGAACTTAGAACTTCCAGTAGCTGAGCCGGGAGAATAGGGATATAAGGATA	C	criteria provided, single submitter	-
single nucleotide variant	NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)	GDAP1	Pathogenic/Likely pathogenic	8	75262808	75262808	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000006.12:g.(?_109741424)_(109743792_?)del	FIG4	Pathogenic	6	110062627	110064995	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_018972.4(GDAP1):c.694+1G>A	GDAP1	Pathogenic/Likely pathogenic	8	75275289	75275289	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014845.6(FIG4):c.2386C>T (p.Gln796Ter)	FIG4	Pathogenic/Likely pathogenic	6	110113794	110113794	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001005373.4(LRSAM1):c.1043+2T>G	LRSAM1	Likely pathogenic	9	130242259	130242259	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.257-2A>G	IGHMBP2	Likely pathogenic	11	68675611	68675611	A	G	criteria provided, single submitter	-

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