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_000426.4(LAMA2):c.7572+1G>A	LAMA2	Likely pathogenic	6	129799959	129799959	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.8244+1G>A	LAMA2	Pathogenic/Likely pathogenic	6	129813629	129813629	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_000426.4(LAMA2):c.9095dup (p.Ile3033fs)	LAMA2	Likely pathogenic	6	129835622	129835623	C	CA	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.9295A>T (p.Lys3099Ter)	LAMA2	Likely pathogenic	6	129837418	129837418	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129204451	129204451	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter)	LAMA2	Likely pathogenic	6	129204496	129204496	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129380974	129380974	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.1306+2T>G	LAMA2	Likely pathogenic	6	129486822	129486822	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.1467+2T>C	LAMA2	Pathogenic/Likely pathogenic	6	129499013	129499013	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.2096+1G>A	LAMA2	Likely pathogenic	6	129573441	129573441	G	A	criteria provided, single submitter	-

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