筋ジストロフィー

小児・神経疾患

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	NC_000023.11:g.(?_32595737)_(32595896_?)del	DMD	Pathogenic	X	32613854	32614013	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9563+2T>A	DMD	Pathogenic	X	31227613	31227613	A	T	criteria provided, single submitter	-
Indel	NM_170707.4(LMNA):c.589_593delinsACTTGAAG (p.Leu197_Gln198delinsThrTer)	LMNA	Likely pathogenic	1	156104269	156104273	CTGCA	ACTTGAAG	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.16390-2A>G	SYNE1	Pathogenic/Likely pathogenic	6	152639400	152639400	T	C	criteria provided, multiple submitters, no conflicts	OMIM:608441.0001
Duplication	NM_001079802.2(FKTN):c.528dup (p.His177fs)	FKTN	Pathogenic/Likely pathogenic	9	108366651	108366652	C	CT	criteria provided, multiple submitters, no conflicts	-