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_000117.3(EMD):c.187+1G>T	EMD	Pathogenic	X	153608155	153608155	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA335148
Deletion	NM_182961.4(SYNE1):c.13299del (p.His4433fs)	SYNE1	Pathogenic	6	152652521	152652521	CG	C	criteria provided, single submitter	-
Insertion	NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs)	SYNE1	Likely pathogenic	6	152763287	152763288	G	GCC	criteria provided, single submitter	ClinGen:CA276021
single nucleotide variant	NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)	SYNE1	Pathogenic	6	152464868	152464868	G	A	criteria provided, single submitter	ClinGen:CA277296
single nucleotide variant	NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter)	SYNE1	Pathogenic/Likely pathogenic	6	152639367	152639367	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277222
Deletion	NM_182961.4(SYNE1):c.6877del (p.Glu2293fs)	SYNE1	Pathogenic	6	152722425	152722425	TC	T	criteria provided, single submitter	ClinGen:CA277323
single nucleotide variant	NM_170707.4(LMNA):c.810+1G>C	LMNA	Pathogenic	1	156104767	156104767	G	C	criteria provided, single submitter	ClinGen:CA277528
single nucleotide variant	NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter)	SYNE1	Pathogenic	6	152557375	152557375	G	A	criteria provided, multiple submitters, no conflicts	ClinVar:424802,ClinVar:691949,ClinGen:CA351316
single nucleotide variant	NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter)	SYNE1	Pathogenic/Likely pathogenic	6	152690632	152690632	T	A	criteria provided, multiple submitters, no conflicts	ClinVar:424801,ClinGen:CA351284
Indel	NM_182961.4(SYNE1):c.3396-10_3396delinsC	SYNE1	Likely pathogenic	6	152770776	152770786	TCTGAAATAAC	G	criteria provided, single submitter	ClinGen:CA278937