エメリー・ドレイフス型筋ジストロフィー

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_000117.3(EMD):c.607del (p.Arg203fs)	EMD	Pathogenic	X	153609397	153609397	AC	A	criteria provided, single submitter	-
Deletion	NM_182961.2(SYNE1):c.24979del	SYNE1	Pathogenic	6	152464898	152464898	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.14212G>T (p.Glu4738Ter)	SYNE1	Pathogenic	6	152651608	152651608	C	A	criteria provided, single submitter	-
Duplication	NM_182961.4(SYNE1):c.13861dup (p.Thr4621fs)	SYNE1	Pathogenic	6	152651958	152651959	G	GT	criteria provided, single submitter	-
Deletion	NM_182961.4(SYNE1):c.8885del (p.Val2962fs)	SYNE1	Pathogenic	6	152702265	152702265	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_182961.4(SYNE1):c.310-489G>T	SYNE1	Likely pathogenic	6	152832727	152832727	C	A	criteria provided, single submitter	-
Deletion	NM_000117.3(EMD):c.116_143del (p.Phe39fs)	EMD	Pathogenic	X	153608081	153608108	TCTTCGAGTACGAGACCCAGAGGCGGCGG	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	-
Deletion	NM_000117.3(EMD):c.468_471del (p.Arg157fs)	EMD	Pathogenic	X	153609257	153609260	ACGGC	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	-