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.3G>T (p.Met1Ile)	LMNA	Pathogenic/Likely pathogenic	1	156084712	156084712	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA018051
single nucleotide variant	NM_170707.4(LMNA):c.1609-1G>A	LMNA	Pathogenic/Likely pathogenic	1	156107444	156107444	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017570
single nucleotide variant	NM_000117.3(EMD):c.450-2A>G	EMD	Pathogenic/Likely pathogenic	X	153609240	153609240	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA220368
single nucleotide variant	NM_170707.4(LMNA):c.898G>A (p.Asp300Asn)	LMNA	Pathogenic/Likely pathogenic	1	156105065	156105065	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018826
single nucleotide variant	NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)	LMNA	Pathogenic/Likely pathogenic	1	156104702	156104702	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018567,UniProtKB:P02545#VAR_009980
single nucleotide variant	NM_170707.4(LMNA):c.73C>G (p.Arg25Gly)	LMNA	Pathogenic/Likely pathogenic	1	156084782	156084782	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018531,UniProtKB:P02545#VAR_039746
single nucleotide variant	NM_170707.4(LMNA):c.695G>A (p.Gly232Glu)	LMNA	Pathogenic/Likely pathogenic	1	156104651	156104651	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P02545#VAR_039771,ClinGen:CA018472
single nucleotide variant	NM_170707.4(LMNA):c.640-10A>G	LMNA	Pathogenic/Likely pathogenic	1	156104586	156104586	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018347
single nucleotide variant	NM_170707.4(LMNA):c.569G>A (p.Arg190Gln)	LMNA	Pathogenic/Likely pathogenic	1	156104249	156104249	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA018251,UniProtKB:P02545#VAR_039763
single nucleotide variant	NM_170707.4(LMNA):c.497G>C (p.Arg166Pro)	LMNA	Pathogenic/Likely pathogenic	1	156100548	156100548	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018166,UniProtKB:P02545#VAR_070176