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_000117.3(EMD):c.355C>T (p.Gln119Ter)	EMD	Pathogenic	X	153608683	153608683	C	T	criteria provided, single submitter	ClinGen:CA220365
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.1620G>A (p.Met540Ile)	LMNA	Pathogenic	1	156107456	156107456	G	A	criteria provided, single submitter	ClinGen:CA017595
Deletion	NM_170707.4(LMNA):c.1086del (p.Leu363fs)	LMNA	Pathogenic	1	156105840	156105840	CT	C	criteria provided, single submitter	ClinGen:CA016573
single nucleotide variant	NM_170707.4(LMNA):c.1968+5G>A	LMNA	Pathogenic	1	156108553	156108553	G	A	criteria provided, single submitter	ClinGen:CA347068,OMIM:150330.0056
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
Deletion	NM_170707.2(LMNA):c.(?_1)_(356_?)del	LMNA	Pathogenic	1	156084710	156085065	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000117.3(EMD):c.266-2A>G	EMD	Pathogenic	X	153608592	153608592	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA273149
single nucleotide variant	NM_000117.3(EMD):c.83-2A>G	EMD	Likely pathogenic	X	153608048	153608048	A	G	criteria provided, single submitter	ClinGen:CA273634
Deletion	NM_170707.4(LMNA):c.48del (p.Ser17fs)	LMNA	Pathogenic	1	156084756	156084756	GC	G	criteria provided, single submitter	ClinGen:CA018155