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.91_93del (p.Glu31del)	LMNA	Pathogenic	1	156084798	156084800	CAGG	C	criteria provided, single submitter	ClinGen:CA277863
single nucleotide variant	NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter)	LMNA	Pathogenic/Likely pathogenic	1	156106075	156106075	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10602394
Indel	NM_170707.4(LMNA):c.354_355delinsAG (p.Arg119Gly)	LMNA	Likely pathogenic	1	156085063	156085064	GC	AG	criteria provided, single submitter	ClinGen:CA351885
single nucleotide variant	NM_170707.4(LMNA):c.82C>G (p.Arg28Gly)	LMNA	Likely pathogenic	1	156084791	156084791	C	G	criteria provided, single submitter	ClinGen:CA358140
single nucleotide variant	NM_170707.4(LMNA):c.356+1G>C	LMNA	Pathogenic/Likely pathogenic	1	156085066	156085066	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576364
Deletion	NM_170707.4(LMNA):c.476del (p.Glu159fs)	LMNA	Likely pathogenic	1	156100527	156100527	GA	G	criteria provided, single submitter	ClinGen:CA10576366
single nucleotide variant	NM_170707.4(LMNA):c.1110C>G (p.Asp370Glu)	LMNA	Likely pathogenic	1	156105865	156105865	C	G	criteria provided, single submitter	ClinGen:CA10576367
Duplication	NM_000117.3(EMD):c.153dup (p.Ser52fs)	EMD	Pathogenic	X	153608114	153608115	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581192
single nucleotide variant	NM_170707.4(LMNA):c.254T>A (p.Leu85His)	LMNA	Likely pathogenic	1	156084963	156084963	T	A	criteria provided, single submitter	ClinGen:CA10581727
single nucleotide variant	NM_170707.4(LMNA):c.928C>T (p.Gln310Ter)	LMNA	Pathogenic	1	156105095	156105095	C	T	criteria provided, single submitter	ClinGen:CA10581728