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
Duplication	NM_001159699.2(FHL1):c.661dup (p.Asp221fs)	FHL1	Pathogenic/Likely pathogenic	X	135290723	135290724	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799874
Duplication	NM_000117.3(EMD):c.135dup (p.Arg46fs)	EMD	Pathogenic/Likely pathogenic	X	153608100	153608101	A	AG	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799911
Deletion	NM_000117.3(EMD):c.581_582del (p.Ser194fs)	EMD	Pathogenic	X	153609373	153609374	TCA	T	criteria provided, single submitter	ClinGen:CA658799916
Duplication	NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs)	SYNE1	Pathogenic/Likely pathogenic	6	152560728	152560729	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_182961.4(SYNE1):c.15347T>A (p.Leu5116Ter)	SYNE1	Likely pathogenic	6	152647184	152647184	A	T	criteria provided, single submitter	-
Deletion	NM_182961.4(SYNE1):c.14223del (p.Ser4742fs)	SYNE1	Likely pathogenic	6	152651597	152651597	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1116G>C (p.Glu372Asp)	LMNA	Pathogenic/Likely pathogenic	1	156105871	156105871	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000001.11:g.(?_156137634)_(156139126_?)del	LMNA	Likely pathogenic	1	156107425	156108917	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1119C>G (p.Ile373Met)	LMNA	Pathogenic	1	156105874	156105874	C	G	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.1516del (p.His506fs)	LMNA	Pathogenic	1	156106929	156106929	AC	A	criteria provided, single submitter	-