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
single nucleotide variant	NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter)	DMD	Pathogenic	X	32364083	32364083	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001849.4(COL6A2):c.1396-1G>A	COL6A2	Pathogenic/Likely pathogenic	21	47540974	47540974	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001077365.2(POMT1):c.1195_1196del (p.Leu399fs)	POMT1	Pathogenic	9	134390832	134390833	CCT	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.8390+1G>C	DMD	Pathogenic	X	31525397	31525397	C	G	criteria provided, single submitter	-
Deletion	NM_000117.3(EMD):c.468_471del (p.Arg157fs)	EMD	Pathogenic	X	153609257	153609260	ACGGC	A	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.2914del (p.Tyr972fs)	DMD	Pathogenic	X	32490316	32490316	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.831+1G>T	DMD	Pathogenic	X	32717228	32717228	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.3923C>A (p.Ser1308Ter)	DMD	Pathogenic	X	32456506	32456506	G	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001848.3(COL6A1):c.1641_1642del (p.Asp548fs)	COL6A1	Pathogenic	21	47418837	47418838	AGG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs)	DMD	Pathogenic	X	32398685	32398686	CTT	C	criteria provided, multiple submitters, no conflicts	-