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.(?_32216896)_(32698018_?)del	DMD	Pathogenic	X	32235013	32716135	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32411732)_(32573866_?)del	DMD	Pathogenic	X	32429849	32591983	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32517988)_(33339285_?)del	DMD	Pathogenic	X	32536105	33357402	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.905G>A (p.Gly302Glu)	COL6A1	Pathogenic	21	47409667	47409667	G	A	criteria provided, single submitter	ClinGen:CA410522282
single nucleotide variant	NM_001848.3(COL6A1):c.958-2A>G	COL6A1	Pathogenic	21	47410290	47410290	A	G	criteria provided, single submitter	ClinGen:CA410522581
Deletion	NM_001848.3(COL6A1):c.2431_2434+36del	COL6A1	Pathogenic	21	47422610	47422649	GCCCAGATCTGCATAGGTGCGCATGGGGCCACCCGGGCAGT	G	criteria provided, single submitter	ClinGen:CA10070858
Duplication	NC_000023.10:g.(?_31279052)_(31747885_?)dup	DMD	Pathogenic	X	31279052	31747885	na	na	criteria provided, single submitter	-
Duplication	NM_001159699.2(FHL1):c.360dup (p.Phe121fs)	FHL1	Pathogenic	X	135289329	135289330	G	GC	criteria provided, single submitter	ClinGen:CA658799873
single nucleotide variant	NM_001159699.2(FHL1):c.416A>G (p.His139Arg)	FHL1	Pathogenic	X	135289987	135289987	A	G	criteria provided, single submitter	ClinGen:CA414608363
Deletion	NC_000023.11:g.(?_31657970)_(31932247_?)del	DMD	Pathogenic	X	31676087	31950364	na	na	criteria provided, single submitter	-