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.2277T>G (p.Tyr759Ter)	COL6A3	Pathogenic	2	238287499	238287499	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter)	SYNE1	Pathogenic	6	152748830	152748830	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter)	SYNE1	Pathogenic	6	152774725	152774725	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.18012+1G>T	SYNE1	Pathogenic	6	152614722	152614722	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)	COL6A3	Pathogenic/Likely pathogenic	2	238272009	238272009	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000426.4(LAMA2):c.3412-2A>C	LAMA2	Likely pathogenic	6	129635798	129635798	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_001848.3(COL6A1):c.904-39A>G	COL6A1	Pathogenic/Likely pathogenic	21	47409627	47409627	A	G	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001077365.2(POMT1):c.2144_2147dup (p.Asp716fs)	POMT1	Pathogenic	9	134398456	134398457	G	GGAAA	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.26236C>T (p.Arg8746Ter)	SYNE1	Pathogenic	6	152443729	152443729	G	A	criteria provided, single submitter	OMIM:608441.0019
Duplication	Single allele	LAMA2	Likely pathogenic	6	129655050	129670080	na	na	criteria provided, single submitter	-