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.377dup (p.Asn126fs)	DMD	Pathogenic	X	32834737	32834738	A	AT	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.294_306del (p.Asp98fs)	DMD	Pathogenic	X	32841463	32841475	TTCCATCTACGATG	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.34_38del (p.Glu12fs)	DMD	Pathogenic	X	33038311	33038315	TCTTTC	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.29del (p.Cys10fs)	DMD	Pathogenic	X	33229401	33229401	AC	A	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156114919)_(156243162_?)del	LMNA	Pathogenic	1	156084710	156212953	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156134393)_(156134538_?)del	LMNA	Likely pathogenic	1	156104184	156104329	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156114909)_(156115284_?)del	LMNA	Pathogenic	1	156084700	156085075	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156134393)_(156139116_?)del	LMNA	Pathogenic	1	156104184	156108907	na	na	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156134383)_(156134548_?)del	LMNA	Likely pathogenic	1	156104174	156104339	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.640-2A>G	LMNA	Likely pathogenic	1	156104594	156104594	A	G	criteria provided, single submitter	-