筋ジストロフィー

小児・神経疾患

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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_004006.3(DMD):c.5697dup (p.Leu1900fs)	DMD	Pathogenic	X	32361292	32361293	A	AT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.1620G>A (p.Trp540Ter)	DMD	Pathogenic	X	32591946	32591946	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004369.4(COL6A3):c.2985_2988del (p.Ala996fs)	COL6A3	Pathogenic	2	238285497	238285500	CTGCA	C	criteria provided, single submitter	-
single nucleotide variant	NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter)	FKRP	Pathogenic	19	47258971	47258971	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_001849.4(COL6A2):c.866G>T (p.Gly289Val)	COL6A2	Likely pathogenic	21	47535933	47535933	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001848.3(COL6A1):c.2122C>T (p.Gln708Ter)	COL6A1	Pathogenic	21	47422187	47422187	C	T	criteria provided, single submitter	-
Deletion	NM_024301.5(FKRP):c.740del (p.Pro247fs)	FKRP	Pathogenic	19	47259443	47259443	GC	G	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.776_777del (p.Lys259fs)	DMD	Pathogenic	X	32717283	32717284	CTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.6649C>T (p.Gln2217Ter)	DMD	Pathogenic	X	31950310	31950310	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.10145+1G>A	SYNE1	Pathogenic/Likely pathogenic	6	152685981	152685981	C	T	criteria provided, multiple submitters, no conflicts	-