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.141dup (p.Arg48fs)	DMD	Pathogenic	X	32867889	32867890	T	TC	criteria provided, single submitter	-
Deletion	NC_000021.9:g.(?_46111477)_(46121123_?)del	COL6A2	Pathogenic	21	47531391	47541037	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.788G>T (p.Gly263Val)	COL6A1	Likely pathogenic	21	47407552	47407552	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.814G>C (p.Gly272Arg)	COL6A1	Pathogenic	21	47409007	47409007	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.1398+2T>G	COL6A1	Likely pathogenic	21	47414145	47414145	T	G	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31191636)_(31526374_?)dup	DMD	Likely pathogenic	X	31191636	31526374	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31222078)_(31241238_?)dup	DMD	Pathogenic	X	31222078	31241238	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31223027)_(31223141_?)del	DMD	Pathogenic	X	31241144	31241258	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31332523)_(31627738_?)dup	DMD	Pathogenic	X	31332523	31627738	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31514885)_(31697723_?)dup	DMD	Pathogenic	X	31514885	31697723	na	na	criteria provided, single submitter	-