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
single nucleotide variant	NM_004006.3(DMD):c.10182C>A (p.Tyr3394Ter)	DMD	Pathogenic	X	31196827	31196827	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9938G>T (p.Cys3313Phe)	DMD	Likely pathogenic	X	31200891	31200891	C	A	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.9468del (p.Ile3157fs)	DMD	Pathogenic	X	31227710	31227710	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9094G>T (p.Glu3032Ter)	DMD	Pathogenic/Likely pathogenic	X	31366742	31366742	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.8992del (p.Ala2999fs)	DMD	Pathogenic	X	31462690	31462690	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.8881C>T (p.Gln2961Ter)	DMD	Pathogenic	X	31496279	31496279	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.8390G>A (p.Arg2797Lys)	DMD	Likely pathogenic	X	31525398	31525398	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_004006.3(DMD):c.7616dup (p.Asn2539fs)	DMD	Pathogenic	X	31747791	31747792	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.7454G>A (p.Trp2485Ter)	DMD	Pathogenic	X	31792165	31792165	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.7400T>A (p.Leu2467Ter)	DMD	Pathogenic	X	31792219	31792219	A	T	criteria provided, single submitter	-