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.5595del (p.Arg1865fs)	DMD	Pathogenic	X	32361395	32361395	AC	A	criteria provided, single submitter	ClinGen:CA658799688
single nucleotide variant	NM_182961.4(SYNE1):c.1912C>T (p.Gln638Ter)	SYNE1	Pathogenic	6	152786413	152786413	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366126617
Deletion	NM_001849.4(COL6A2):c.830del (p.Gly277fs)	COL6A2	Pathogenic	21	47535812	47535812	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799473
single nucleotide variant	NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter)	COL6A3	Pathogenic	2	238277740	238277740	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2188910
single nucleotide variant	NM_004006.3(DMD):c.10086+1G>T	DMD	Pathogenic	X	31198486	31198486	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412652981,LOVD 3:DMD_000062,OMIM:300377.0024,ClinVar:11234
Deletion	NM_004006.3(DMD):c.7052_7053del (p.Gln2350_Leu2351insTer)	DMD	Pathogenic	X	31893350	31893351	CCA	C	criteria provided, single submitter	ClinGen:CA658799673
single nucleotide variant	NM_004369.4(COL6A3):c.6064-2A>G	COL6A3	Pathogenic	2	238270476	238270476	T	C	criteria provided, single submitter	ClinGen:CA351218024
single nucleotide variant	NM_001849.4(COL6A2):c.900+1G>A	COL6A2	Pathogenic	21	47535968	47535968	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA410525419
Deletion	NM_004006.3(DMD):c.5548_5552del (p.Lys1850fs)	DMD	Pathogenic	X	32364094	32364098	CTGTTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799689
single nucleotide variant	NM_004006.3(DMD):c.1255G>T (p.Glu419Ter)	DMD	Pathogenic	X	32662325	32662325	C	A	criteria provided, single submitter	ClinGen:CA412661073