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
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.14644C>T (p.Arg4882Ter)	SYNE1	Pathogenic	6	152651176	152651176	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA4055974
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.23020-1G>A	SYNE1	Pathogenic	6	152523085	152523085	C	T	criteria provided, single submitter	ClinGen:CA366093313
Duplication	NM_182961.4(SYNE1):c.15168dup (p.Ala5057fs)	SYNE1	Likely pathogenic	6	152647555	152647556	C	CT	criteria provided, single submitter	ClinGen:CA10606679
Deletion	NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer)	SYNE1	Pathogenic	6	152770672	152770673	AAC	A	criteria provided, single submitter	ClinGen:CA658657635
single nucleotide variant	NM_182961.4(SYNE1):c.19223T>A (p.Leu6408Ter)	SYNE1	Pathogenic	6	152576763	152576763	A	T	criteria provided, single submitter	ClinGen:CA366136800
single nucleotide variant	NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter)	SYNE1	Pathogenic/Likely pathogenic	6	152551729	152551729	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366112039,OMIM:608441.0017
Deletion	NM_182961.4(SYNE1):c.3842del (p.Lys1281fs)	SYNE1	Pathogenic	6	152763376	152763376	CT	C	criteria provided, single submitter	ClinGen:CA658657636
single nucleotide variant	NM_182961.4(SYNE1):c.4939C>T (p.Gln1647Ter)	SYNE1	Pathogenic	6	152749377	152749377	G	A	criteria provided, single submitter	ClinGen:CA366140471