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_170707.4(LMNA):c.1541G>A (p.Trp514Ter)	LMNA	Pathogenic	1	156106956	156106956	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1540T>C (p.Trp514Arg)	LMNA	Pathogenic	1	156106955	156106955	T	C	criteria provided, single submitter	ClinGen:CA10584133
Duplication	NM_170707.4(LMNA):c.1524_1534dup (p.Leu512fs)	LMNA	Pathogenic	1	156106936	156106937	C	CCCCCCTACCGA	criteria provided, single submitter	ClinGen:CA658795538
Duplication	NM_170707.4(LMNA):c.1526dup (p.Thr510fs)	LMNA	Pathogenic	1	156106935	156106936	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA017401
Deletion	NM_170707.4(LMNA):c.1516del (p.His506fs)	LMNA	Pathogenic	1	156106929	156106929	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter)	LMNA	Pathogenic	1	156106909	156106909	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342822966
single nucleotide variant	NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys)	LMNA	Likely pathogenic	1	156106909	156106909	G	T	criteria provided, single submitter	ClinGen:CA017364
single nucleotide variant	NM_170707.4(LMNA):c.1489-2A>G	LMNA	Likely pathogenic	1	156106902	156106902	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584131
single nucleotide variant	NM_170707.4(LMNA):c.1488+5G>C	LMNA	Pathogenic	1	156106824	156106824	G	C	criteria provided, single submitter	ClinGen:CA017326,OMIM:150330.0039
single nucleotide variant	NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)	LMNA	Pathogenic	1	156106808	156106808	C	T	criteria provided, single submitter	ClinGen:CA017298,OMIM:150330.0038