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.427T>C (p.Ser143Pro)	LMNA	Pathogenic/Likely pathogenic	1	156100478	156100478	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018081,UniProtKB:P02545#VAR_039761
single nucleotide variant	NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)	LMNA	Pathogenic/Likely pathogenic	1	156084738	156084738	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017867,UniProtKB:P02545#VAR_039745,OMIM:150330.0029
single nucleotide variant	NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro)	LMNA	Pathogenic/Likely pathogenic	1	156107458	156107458	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017630,UniProtKB:P02545#VAR_064975
single nucleotide variant	NM_170707.4(LMNA):c.1622G>A (p.Arg541His)	LMNA	Pathogenic/Likely pathogenic	1	156107458	156107458	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017621,UniProtKB:P02545#VAR_039787
single nucleotide variant	NM_170707.4(LMNA):c.1609-3C>G	LMNA	Pathogenic/Likely pathogenic	1	156107442	156107442	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017576
single nucleotide variant	NM_170707.4(LMNA):c.1583C>G (p.Thr528Arg)	LMNA	Pathogenic/Likely pathogenic	1	156106998	156106998	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA017510,UniProtKB:P02545#VAR_039785
single nucleotide variant	NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)	LMNA	Pathogenic/Likely pathogenic	1	156106998	156106998	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA017504,UniProtKB:P02545#VAR_009996
single nucleotide variant	NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter)	LMNA	Pathogenic/Likely pathogenic	1	156106141	156106141	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016950
single nucleotide variant	NM_170707.4(LMNA):c.1157+1G>A	LMNA	Pathogenic/Likely pathogenic	1	156105913	156105913	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA016716
single nucleotide variant	NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	LMNA	Pathogenic/Likely pathogenic	1	156105800	156105800	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016479