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_182961.4(SYNE1):c.22709_22763del (p.Glu7570fs)	SYNE1	Pathogenic/Likely pathogenic	6	152529168	152529222	ACTCATGGGGAGGTAGGACACTTCAACCAACCATTTACGAAGCTTTTCTGCCATCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657632
Deletion	NM_182961.4(SYNE1):c.16085_16092del (p.Ile5362fs)	SYNE1	Pathogenic	6	152642517	152642524	TTAGGAGAA	T	criteria provided, single submitter	ClinGen:CA658657634
single nucleotide variant	NM_182961.4(SYNE1):c.13390C>T (p.Gln4464Ter)	SYNE1	Likely pathogenic	6	152652430	152652430	G	A	criteria provided, single submitter	ClinGen:CA366101796
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
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.21148C>T (p.Arg7050Ter)	SYNE1	Pathogenic/Likely pathogenic	6	152551729	152551729	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA366112039,OMIM:608441.0017
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_170707.4(LMNA):c.94A>G (p.Lys32Glu)	LMNA	Pathogenic/Likely pathogenic	1	156084803	156084803	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA342807424
single nucleotide variant	NM_170707.4(LMNA):c.592C>T (p.Gln198Ter)	LMNA	Pathogenic	1	156104272	156104272	C	T	criteria provided, single submitter	ClinGen:CA342816989
single nucleotide variant	NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg)	LMNA	Pathogenic	1	156106973	156106973	T	C	criteria provided, single submitter	ClinGen:CA342823343