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
single nucleotide variant	NM_004006.3(DMD):c.4806A>T (p.Gly1602=)	DMD	Pathogenic	X	32398666	32398666	T	A	criteria provided, single submitter	ClinGen:CA233559
single nucleotide variant	NM_004006.3(DMD):c.2484T>G (p.Tyr828Ter)	DMD	Pathogenic	X	32509532	32509532	A	C	criteria provided, single submitter	ClinGen:CA273316
single nucleotide variant	NM_013382.7(POMT2):c.1726-2A>G	POMT2	Pathogenic	14	77746425	77746425	T	C	criteria provided, single submitter	ClinGen:CA233768
Deletion	NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs)	LAMA2	Pathogenic/Likely pathogenic	6	129636685	129636707	ACCAAGGGCATTGTTTTTCAACAT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA234201
single nucleotide variant	NM_000117.3(EMD):c.83-2A>G	EMD	Likely pathogenic	X	153608048	153608048	A	G	criteria provided, single submitter	ClinGen:CA273634
single nucleotide variant	NM_000426.4(LAMA2):c.5563-2A>G	LAMA2	Likely pathogenic	6	129723467	129723467	A	G	criteria provided, single submitter	ClinGen:CA274493
single nucleotide variant	NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro)	LAMA2	Pathogenic/Likely pathogenic	6	129601216	129601216	A	C	criteria provided, multiple submitters, no conflicts	ClinVar:190218
single nucleotide variant	NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter)	LAMA2	Pathogenic/Likely pathogenic	6	129663524	129663524	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA236268
Deletion	NM_000426.4(LAMA2):c.1762del (p.Ala588fs)	LAMA2	Pathogenic/Likely pathogenic	6	129513977	129513977	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA236452
single nucleotide variant	NM_004369.4(COL6A3):c.8966-1G>C	COL6A3	Pathogenic	2	238243533	238243533	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA200148,OMIM:120250.0009