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
Deletion	NM_004006.3(DMD):c.1577del (p.Thr526fs)	DMD	Pathogenic	X	32613899	32613899	AG	A	criteria provided, single submitter	-
Deletion	NM_013382.7(POMT2):c.1485-2_1485-1del	POMT2	Likely pathogenic	14	77751385	77751386	CCT	C	criteria provided, single submitter	-
Deletion	NC_000021.9:g.(?_45981831)_(46132572_?)del	COL6A2	Pathogenic	21	47401745	47552486	na	na	criteria provided, single submitter	-
Deletion	NC_000021.9:g.(?_45989064)_(45989157_?)del	COL6A1	Pathogenic	21	47408978	47409071	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.1823-1G>T	COL6A1	Likely pathogenic	21	47421166	47421166	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001849.4(COL6A2):c.1294A>T (p.Lys432Ter)	COL6A2	Pathogenic	21	47539726	47539726	A	T	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_33761351)_(33761496_?)del	LARGE1	Pathogenic	22	34157338	34157483	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_153607825)_(153609577_?)del	EMD	Pathogenic	X	153607825	153609577	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31332523)_(31462764_?)dup	DMD	Pathogenic	X	31332523	31462764	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31332523)_(31986651_?)dup	DMD	Likely pathogenic	X	31332523	31986651	na	na	criteria provided, single submitter	-