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_004369.4(COL6A3):c.1897+1G>T	COL6A3	Likely pathogenic	2	238289557	238289557	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.1028-1G>A	LAMA2	Likely pathogenic	6	129475649	129475649	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.8547+2T>C	LAMA2	Pathogenic	6	129824427	129824427	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.6309+1G>A	COL6A3	Pathogenic	2	238268004	238268004	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004369.4(COL6A3):c.1699C>T (p.Gln567Ter)	COL6A3	Pathogenic	2	238289756	238289756	G	A	criteria provided, single submitter	-
Duplication	NM_000426.4(LAMA2):c.253dup (p.Ile85fs)	LAMA2	Pathogenic	6	129371201	129371202	G	GA	criteria provided, single submitter	-
single nucleotide variant	NM_001077365.2(POMT1):c.1272+2T>C	POMT1	Likely pathogenic	9	134390911	134390911	T	C	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_105546358)_(105620061_?)del	FKTN	Pathogenic	9	108308639	108382342	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000426.4(LAMA2):c.7899-1G>A	LAMA2	Likely pathogenic	6	129813045	129813045	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter)	SYNE1	Pathogenic	6	152629755	152629755	G	A	criteria provided, single submitter	-