筋ジストロフィー - MGenReviews

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.877C>T (p.Gln293Ter)	LMNA	Pathogenic	1	156105044	156105044	C	T	criteria provided, single submitter	ClinGen:CA342817717
Deletion	NM_170707.4(LMNA):c.1436del (p.Leu479fs)	LMNA	Pathogenic/Likely pathogenic	1	156106767	156106767	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656966
single nucleotide variant	NM_170707.4(LMNA):c.936+1G>A	LMNA	Pathogenic	1	156105104	156105104	G	A	criteria provided, single submitter	ClinGen:CA342818117
single nucleotide variant	NM_020451.3(SELENON):c.665G>A (p.Trp222Ter)	SELENON	Pathogenic	1	26135198	26135198	G	A	criteria provided, single submitter	ClinGen:CA339112027
single nucleotide variant	NM_020451.3(SELENON):c.1406G>A (p.Arg469Gln)	SELENON	Pathogenic/Likely pathogenic	1	26140390	26140390	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA19699053
single nucleotide variant	NM_020451.3(SELENON):c.2T>G (p.Met1Arg)	SELENON	Pathogenic	1	26126723	26126723	T	G	criteria provided, single submitter	ClinGen:CA339105612
single nucleotide variant	NM_020451.3(SELENON):c.1469G>A (p.Trp490Ter)	SELENON	Pathogenic/Likely pathogenic	1	26140453	26140453	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA19699056
Deletion	NC_000002.12:g.(?_237362747)_(237372158_?)del	COL6A3	Likely pathogenic	2	238271390	238280801	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter)	COL6A3	Pathogenic	2	238285865	238285865	G	A	criteria provided, single submitter	ClinGen:CA351211117
single nucleotide variant	NM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro)	COL6A3	Likely pathogenic	2	238253330	238253330	C	G	criteria provided, single submitter	ClinGen:CA351203731

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