エメリー・ドレイフス型筋ジストロフィー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Duplication	NM_182961.4(SYNE1):c.15168dup (p.Ala5057fs)	SYNE1	Likely pathogenic	6	152647555	152647556	C	CT	criteria provided, single submitter	ClinGen:CA10606679
single nucleotide variant	NM_182961.4(SYNE1):c.23020-1G>A	SYNE1	Pathogenic	6	152523085	152523085	C	T	criteria provided, single submitter	ClinGen:CA366093313
Deletion	NM_182961.3(SYNE1):c.9973delG (p.Ala3325Leufs)	SYNE1	Pathogenic	6	152686154	152686154	GC	G	criteria provided, single submitter	ClinGen:CA658796848
single nucleotide variant	NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter)	SYNE1	Pathogenic	6	152651176	152651176	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4055974
single nucleotide variant	NM_000117.3(EMD):c.484C>T (p.Gln162Ter)	EMD	Pathogenic	X	153609276	153609276	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415258537
single nucleotide variant	NM_170707.4(LMNA):c.1582A>C (p.Thr528Pro)	LMNA	Pathogenic	1	156106997	156106997	A	C	criteria provided, single submitter	ClinGen:CA342823494
single nucleotide variant	NM_182961.4(SYNE1):c.1912C>T (p.Gln638Ter)	SYNE1	Pathogenic	6	152786413	152786413	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366126617
single nucleotide variant	NM_182961.4(SYNE1):c.8890C>T (p.Gln2964Ter)	SYNE1	Pathogenic	6	152702260	152702260	G	A	criteria provided, single submitter	ClinGen:CA366144055
Deletion	NM_182961.4(SYNE1):c.639del (p.His214fs)	SYNE1	Pathogenic/Likely pathogenic	6	152826475	152826475	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA571149263
single nucleotide variant	NM_182961.4(SYNE1):c.21052G>T (p.Glu7018Ter)	SYNE1	Pathogenic	6	152551825	152551825	C	A	criteria provided, single submitter	ClinGen:CA366113170