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.3358G>T (p.Glu1120Ter)	DMD	Pathogenic/Likely pathogenic	X	32481630	32481630	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.4486G>T (p.Glu1496Ter)	DMD	Pathogenic	X	32407650	32407650	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.8775G>A (p.Trp2925Ter)	DMD	Pathogenic	X	31496385	31496385	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.5729_5733del (p.Arg1910fs)	DMD	Pathogenic	X	32361257	32361261	TTTTCC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_182961.4(SYNE1):c.253C>T (p.Arg85Ter)	SYNE1	Pathogenic	6	152841650	152841650	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1652G>A (p.Trp551Ter)	DMD	Pathogenic	X	32591914	32591914	C	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.4151del (p.Glu1384fs)	DMD	Pathogenic	X	32429951	32429951	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9807+1G>T	DMD	Pathogenic	X	31222077	31222077	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3220G>T (p.Glu1074Ter)	DMD	Pathogenic	X	32482759	32482759	C	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004006.3(DMD):c.2195dup (p.His732fs)	DMD	Pathogenic	X	32536221	32536222	G	GT	criteria provided, multiple submitters, no conflicts	-