エメリー・ドレイフス型筋ジストロフィー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_170707.4(LMNA):c.83G>A (p.Arg28Gln)	LMNA	Pathogenic/Likely pathogenic	1	156084792	156084792	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605120
Deletion	NM_182961.4(SYNE1):c.23071_23099del (p.Thr7691fs)	SYNE1	Pathogenic	6	152523005	152523033	GAGAGACTGCGAAAGCTTCTTTTTGAAAGT	G	criteria provided, single submitter	ClinGen:CA10605778
Indel	NM_170707.4(LMNA):c.65_66delinsT (p.Ser22fs)	LMNA	Pathogenic	1	156084774	156084775	CG	T	criteria provided, single submitter	ClinGen:CA10605892
single nucleotide variant	NM_182961.4(SYNE1):c.12121C>T (p.Arg4041Ter)	SYNE1	Pathogenic	6	152665320	152665320	G	A	criteria provided, single submitter	ClinGen:CA10606167
Deletion	NM_182961.4(SYNE1):c.2154del (p.Thr719fs)	SYNE1	Likely pathogenic	6	152783969	152783969	TA	T	criteria provided, single submitter	ClinGen:CA10606415
Deletion	NM_000117.3(EMD):c.251_255del (p.Leu84fs)	EMD	Pathogenic	X	153608362	153608366	TTACTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10561551,LOVD 3:EMD_000023,OMIM:300384.0010
single nucleotide variant	NM_001159699.2(FHL1):c.261C>A (p.Cys87Ter)	FHL1	Pathogenic/Likely pathogenic	X	135289231	135289231	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606517
single nucleotide variant	NM_182961.4(SYNE1):c.17167C>T (p.Gln5723Ter)	SYNE1	Likely pathogenic	6	152631005	152631005	G	A	criteria provided, single submitter	ClinGen:CA10606687
single nucleotide variant	NM_000117.3(EMD):c.512C>A (p.Ser171Ter)	EMD	Pathogenic	X	153609304	153609304	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606711
single nucleotide variant	NM_182961.4(SYNE1):c.13060C>T (p.Gln4354Ter)	SYNE1	Likely pathogenic	6	152652760	152652760	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606944