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.26236C>T (p.Arg8746Ter)	SYNE1	Pathogenic	6	152443729	152443729	G	A	criteria provided, single submitter	OMIM:608441.0019
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_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.5098C>T (p.Gln1700Ter)	SYNE1	Pathogenic	6	152748830	152748830	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.23995C>T (p.Arg7999Ter)	SYNE1	Likely pathogenic	6	152476161	152476161	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.13420C>T (p.Arg4474Ter)	SYNE1	Likely pathogenic	6	152652400	152652400	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.18715C>T (p.Gln6239Ter)	SYNE1	Pathogenic	6	152589291	152589291	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.994A>T (p.Arg332Ter)	SYNE1	Likely pathogenic	6	152809584	152809584	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.10145+1G>A	SYNE1	Pathogenic/Likely pathogenic	6	152685981	152685981	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_182961.4(SYNE1):c.253C>T (p.Arg85Ter)	SYNE1	Pathogenic	6	152841650	152841650	G	A	criteria provided, single submitter	-