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.158A>G (p.Glu53Gly)	LMNA	Pathogenic/Likely pathogenic	1	156084867	156084867	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621576
single nucleotide variant	NM_182914.3(SYNE2):c.4397G>A (p.Arg1466Gln)	SYNE2	Likely pathogenic	14	64470048	64470048	G	A	criteria provided, single submitter	ClinGen:CA16621659
single nucleotide variant	NM_182961.4(SYNE1):c.17917C>T (p.Gln5973Ter)	SYNE1	Likely pathogenic	6	152614818	152614818	G	A	criteria provided, single submitter	ClinGen:CA16621850
Deletion	NM_182961.4(SYNE1):c.7557del (p.Phe2520fs)	SYNE1	Likely pathogenic	6	152716806	152716806	AG	A	criteria provided, single submitter	ClinGen:CA16621851
single nucleotide variant	NM_170707.4(LMNA):c.619C>T (p.Gln207Ter)	LMNA	Likely pathogenic	1	156104299	156104299	C	T	criteria provided, single submitter	ClinGen:CA342817053
single nucleotide variant	NM_170707.4(LMNA):c.307C>T (p.Gln103Ter)	LMNA	Likely pathogenic	1	156085016	156085016	C	T	criteria provided, single submitter	ClinGen:CA342808718
single nucleotide variant	NM_170707.4(LMNA):c.1126T>C (p.Tyr376His)	LMNA	Likely pathogenic	1	156105881	156105881	T	C	criteria provided, single submitter	ClinGen:CA342820546
Deletion	NC_000023.10:g.(?_154379237)_(154381523_?)del	EMD	Pathogenic	X	154379237	154381523	na	na	criteria provided, single submitter	-
Deletion	NM_000117.3(EMD):c.121_155del (p.Tyr41fs)	EMD	Pathogenic	X	153608086	153608120	GAGTACGAGACCCAGAGGCGGCGGCTCTCGCCCCCC	G	criteria provided, single submitter	ClinGen:CA645372696
single nucleotide variant	NM_000117.3(EMD):c.600G>A (p.Trp200Ter)	EMD	Pathogenic/Likely pathogenic	X	153609392	153609392	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA415258991