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_182961.4(SYNE1):c.1021G>T (p.Glu341Ter)	SYNE1	Pathogenic	6	152809557	152809557	C	A	criteria provided, single submitter	ClinGen:CA366144222
Indel	NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs)	POMT2	Likely pathogenic	14	77786975	77786976	CG	T	criteria provided, single submitter	ClinGen:CA645372994
Deletion	NM_000426.4(LAMA2):c.397-4_478del	LAMA2	Pathogenic	6	129419314	129419399	CCTAGGTGTTCCAGATCGCGTATGTGATTGTGAAGGCAGCTAACTCCCCCCGGCCTGGAAACTGGATTTTGGAACGCTCTCTTGATG	C	criteria provided, single submitter	ClinGen:CA645372435
single nucleotide variant	NM_000426.4(LAMA2):c.7452-1G>A	LAMA2	Pathogenic	6	129799837	129799837	G	A	criteria provided, single submitter	ClinGen:CA365626127
single nucleotide variant	NM_004006.3(DMD):c.8782A>T (p.Lys2928Ter)	DMD	Pathogenic	X	31496378	31496378	T	A	criteria provided, single submitter	ClinGen:CA412654168
single nucleotide variant	NM_004006.3(DMD):c.8391-2A>G	DMD	Pathogenic/Likely pathogenic	X	31515063	31515063	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412655700
single nucleotide variant	NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)	DMD	Pathogenic/Likely pathogenic	X	32509531	32509531	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412672508
single nucleotide variant	NM_004006.3(DMD):c.2416G>T (p.Glu806Ter)	DMD	Pathogenic	X	32509600	32509600	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412672878
Deletion	NM_004006.3(DMD):c.1481del (p.Lys494fs)	DMD	Pathogenic	X	32632421	32632421	CT	C	criteria provided, single submitter	ClinGen:CA645509389
single nucleotide variant	NM_004006.3(DMD):c.2101G>T (p.Glu701Ter)	DMD	Pathogenic	X	32563343	32563343	C	A	criteria provided, single submitter	ClinGen:CA412667880