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_004006.3(DMD):c.6762+1G>T	DMD	Pathogenic	X	31950196	31950196	C	A	criteria provided, single submitter	ClinGen:CA10588769
single nucleotide variant	NM_004006.3(DMD):c.5314A>T (p.Lys1772Ter)	DMD	Pathogenic	X	32380916	32380916	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588770
single nucleotide variant	NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter)	DMD	Pathogenic	X	32482720	32482720	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588771
single nucleotide variant	NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg)	LAMA2	Likely pathogenic	6	129826462	129826462	G	A	criteria provided, single submitter	ClinGen:CA10588944,UniProtKB:P24043#VAR_076560
Deletion	NM_000426.3(LAMA2):c.6993_7155del163 (p.Ser2331Argfs)	LAMA2	Likely pathogenic	6	129785434	129785596	AGTCCTCAGGTGGAAGATAGTGAGGGGACTATTCAATTTGATGGAGAAGGTTATGCATTGGTCAGCCGTCCCATTCGCTGGTACCCCAACATCTCCACTGTCATGTTCAAGTTCAGAACATTTTCTTCGAGTGCTCTTCTGATGTATCTTGCCACACGAGACCT	A	criteria provided, single submitter	ClinGen:CA10588988
Deletion	NM_170707.4(LMNA):c.784del (p.Glu262fs)	LMNA	Pathogenic	1	156104739	156104739	AG	A	criteria provided, single submitter	ClinGen:CA10602762
Deletion	NM_020451.3(SELENON):c.997_1000del (p.Val333fs)	SELENON	Pathogenic	1	26136297	26136300	TCGTG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602766
Deletion	NM_020451.3(SELENON):c.9_33del (p.Ala4fs)	SELENON	Pathogenic	1	26126724	26126748	TGGGCCGGGCCCGGCCGGGCCAACGC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602785
single nucleotide variant	NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	SELENON	Pathogenic/Likely pathogenic	1	26135641	26135641	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA696660
single nucleotide variant	NM_020451.3(SELENON):c.1090C>T (p.Gln364Ter)	SELENON	Pathogenic	1	26138024	26138024	C	T	criteria provided, single submitter	ClinGen:CA10602788

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