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_004369.4(COL6A3):c.5480del (p.Gly1827fs)	COL6A3	Pathogenic	2	238275350	238275350	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2188663
single nucleotide variant	NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)	COL6A3	Pathogenic/Likely pathogenic	2	238285979	238285979	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2189382
Deletion	NM_004393.6(DAG1):c.1771_1796del (p.Phe591fs)	DAG1	Pathogenic	3	49569713	49569738	GCCTTCGAGATCCACGTCCACAGGCGC	G	criteria provided, single submitter	ClinGen:CA16617991
single nucleotide variant	NM_000426.4(LAMA2):c.1499G>A (p.Cys500Tyr)	LAMA2	Likely pathogenic	6	129511381	129511381	G	A	criteria provided, single submitter	ClinGen:CA16618239
Duplication	NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs)	LAMA2	Pathogenic	6	129591795	129591796	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618240
Deletion	NM_000426.4(LAMA2):c.3636del (p.Gln1213fs)	LAMA2	Likely pathogenic	6	129636697	129636697	GT	G	criteria provided, single submitter	ClinGen:CA16618241
single nucleotide variant	NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys)	LAMA2	Pathogenic/Likely pathogenic	6	129670529	129670529	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3993578
single nucleotide variant	NM_000426.4(LAMA2):c.5866-1G>A	LAMA2	Pathogenic/Likely pathogenic	6	129748896	129748896	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618242
single nucleotide variant	NM_000426.4(LAMA2):c.8452C>G (p.Leu2818Val)	LAMA2	Likely pathogenic	6	129824330	129824330	C	G	criteria provided, single submitter	ClinGen:CA16618243
single nucleotide variant	NM_182961.4(SYNE1):c.17682+1G>A	SYNE1	Likely pathogenic	6	152621775	152621775	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618256