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	NC_000023.11:g.(?_32844773)_(32849830_?)del	DMD	Pathogenic	X	32862890	32867947	na	na	criteria provided, single submitter	-
Deletion	NM_001849.4(COL6A2):c.735+9_784del	COL6A2	Likely pathogenic	21	47532745	47533968	TGGCGCTTCCCTTCCTGCCAGTGCTGGCCGGCAGCTGACCCAGCAGAGATGACCGCGCCAGGCTGCCGACTCCTGGCGCCTCCAGGCTGGAACAGATGAGAGGAGAGGGAGTCACCTGCTCCATGTTGGACCTGAGGCCTTGGAGTCTGGAGAAAGGGCTCCCAGCCAAAGCTAGGCTGTTTAGATCCCGTGAGGGTCAGCGTTAGGGTCACCCACAGAGCACGTGTTACAAGGAGAGGTCGAGGGTCTGGCCTCCGGGCAGGTGGGATCCATCCACCCTGGACTCGAGGCCCGAGCCCAGCCCAGCAGGTCAGGGGAGAAGGAACTGACATCATCGGGGTCCATGACATCCCCACCTCCCTGTGTGTCCCAGCTCCAGCTCTCAGGAAGGGGAGCAGGCATCTGAGATCTCCCCCGTGAGGCTTCCTGCAAAAACGTGCCCTGCCTCAGAATCGCTGCTCAGTAACAGTGGTTTCATTGCCGTGTACAAATGGTGCCTCCCTCACCAGTGCCCCTTGCTCTTCCATCCTTTTGTAAAATTTATTCTTTTATATTTGTTTTTTTAGAGACAGGGTCTTTCTCTGTCACCTAGGCTGGAGTGCAGTGGTACGATCACGGCTCACTGCAGCCTTGAACTCTGAGGCTCAAGCCATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATACCTGGTGTGCGCATGTAGTTCCAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTTCGTATTGTTTTTTTGTAGAGATGGGATCTCACTATGTTGCCCAGCCTGGTCTCTAACTCCTGGCCTCAAGCAGTCCTCCCTGCCTCGGCCTACCAAAATGTTGGGATTCCAGGCGTGAGCTGCACCCGGCCTTTCTTCCCTTCTATTTTCTGTCATGGCTTAAGCCAGGCTTGGTTTTTTAAACTTGCCTAGAACACCTGACCGAGAGCCAAACTCTTTGGCTTGTCCCTGATGGGGGCAGAGCCTCACAGCACCCCATGTCTCACAGCTCCCTCACGCCCGCCCAGGTTCTCAGGGCATTTCAGCATCTCCTTGGCCCCTGCTGAGAGTCGTGGGCTACACGTTCTGAGACCCTGCCCTGCCACCTGAGGAATGTCCCACCCATGCAACCTTCTGTCTCTGCTTCCTCGTTTCAGTGCTACAAGGTGAGCTGCCTGGAAATCCCTGGGCCCTCTGGCCCCAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_001849.4(COL6A2):c.736-1G>C	COL6A2	Pathogenic	21	47533921	47533921	G	C	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_152990712)_(153650075_?)del	EMD	Pathogenic	X	152990712	153650075	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31341705)_(31341785_?)dup	DMD	Pathogenic	X	31341705	31341785	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31323588)_(31507463_?)del	DMD	Pathogenic	X	31341705	31525580	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31496768)_(31679606_?)del	DMD	Pathogenic	X	31514885	31697723	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31496778)_(31507463_?)del	DMD	Pathogenic	X	31514895	31525580	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31507271)_(31507463_?)del	DMD	Pathogenic	X	31525388	31525580	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31595570)_(31774202_?)del	DMD	Pathogenic	X	31613687	31792319	na	na	criteria provided, single submitter	-