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_170707.4(LMNA):c.1142_1157+1del	LMNA	Pathogenic/Likely pathogenic	1	156105895	156105911	TGGAGGGCGAGGAGGAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795534
Deletion	NM_170707.4(LMNA):c.1436del (p.Leu479fs)	LMNA	Pathogenic/Likely pathogenic	1	156106767	156106767	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656966
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_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.22709_22763del (p.Glu7570fs)	SYNE1	Pathogenic/Likely pathogenic	6	152529168	152529222	ACTCATGGGGAGGTAGGACACTTCAACCAACCATTTACGAAGCTTTTCTGCCATCT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657632
single nucleotide variant	NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)	LMNA	Pathogenic/Likely pathogenic	1	156107003	156107003	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA342823527
Duplication	NM_000117.3(EMD):c.640_644dup (p.Gln219fs)	EMD	Pathogenic/Likely pathogenic	X	153609431	153609432	T	TGGGGC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373325
single nucleotide variant	NM_000117.3(EMD):c.600G>A (p.Trp200Ter)	EMD	Pathogenic/Likely pathogenic	X	153609392	153609392	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415258991
single nucleotide variant	NM_170707.4(LMNA):c.158A>G (p.Glu53Gly)	LMNA	Pathogenic/Likely pathogenic	1	156084867	156084867	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621576
single nucleotide variant	NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter)	SYNE1	Pathogenic/Likely pathogenic	6	152560836	152560836	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16603269