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.17229T>G (p.Tyr5743Ter)	SYNE1	Pathogenic	6	152629741	152629741	A	C	criteria provided, single submitter	ClinGen:CA366105771
Deletion	NM_001347702.2(SYNE1):c.1455del (p.Glu486fs)	SYNE1	Likely pathogenic	6	152466677	152466677	CG	C	criteria provided, single submitter	ClinGen:CA658796842
single nucleotide variant	NM_182961.4(SYNE1):c.434T>A (p.Leu145His)	SYNE1	Likely pathogenic	6	152831475	152831475	A	T	criteria provided, single submitter	ClinGen:CA4059726
single nucleotide variant	NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter)	SYNE1	Pathogenic	6	152646309	152646309	C	T	criteria provided, single submitter	ClinGen:CA366091091
Deletion	NM_182961.4(SYNE1):c.1369del (p.Asp457fs)	SYNE1	Pathogenic	6	152793530	152793530	TC	T	criteria provided, single submitter	ClinGen:CA658796853
single nucleotide variant	NM_182961.4(SYNE1):c.21732C>A (p.Tyr7244Ter)	SYNE1	Pathogenic	6	152542106	152542106	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA366104525
single nucleotide variant	NM_182961.4(SYNE1):c.23979-2A>G	SYNE1	Pathogenic	6	152476179	152476179	T	C	criteria provided, single submitter	ClinGen:CA366087986
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
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.8890C>T (p.Gln2964Ter)	SYNE1	Pathogenic	6	152702260	152702260	G	A	criteria provided, single submitter	ClinGen:CA366144055