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
Duplication	NM_182961.4(SYNE1):c.13861dup (p.Thr4621fs)	SYNE1	Pathogenic	6	152651958	152651959	G	GT	criteria provided, single submitter	-
Deletion	NM_182961.4(SYNE1):c.8885del (p.Val2962fs)	SYNE1	Pathogenic	6	152702265	152702265	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.310-489G>T	SYNE1	Likely pathogenic	6	152832727	152832727	C	A	criteria provided, single submitter	-
Deletion	NM_000117.3(EMD):c.116_143del (p.Phe39fs)	EMD	Pathogenic	X	153608081	153608108	TCTTCGAGTACGAGACCCAGAGGCGGCGG	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.10546G>T (p.Glu3516Ter)	DMD	Pathogenic	X	31187567	31187567	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.4758G>A (p.Trp1586Ter)	DMD	Pathogenic	X	32398714	32398714	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3804G>A (p.Trp1268Ter)	DMD	Pathogenic	X	32459414	32459414	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3603+1G>T	DMD	Pathogenic	X	32472778	32472778	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.2111del (p.Pro704fs)	DMD	Pathogenic	X	32563333	32563333	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.100A>T (p.Lys34Ter)	DMD	Pathogenic	X	32867931	32867931	T	A	criteria provided, single submitter	-

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