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.877C>T (p.Gln293Ter)	LMNA	Pathogenic	1	156105044	156105044	C	T	criteria provided, single submitter	ClinGen:CA342817717
Deletion	NM_170707.4(LMNA):c.1436del (p.Leu479fs)	LMNA	Pathogenic/Likely pathogenic	1	156106767	156106767	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656966
single nucleotide variant	NM_170707.4(LMNA):c.936+1G>A	LMNA	Pathogenic	1	156105104	156105104	G	A	criteria provided, single submitter	ClinGen:CA342818117
Deletion	NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer)	SYNE1	Pathogenic	6	152770672	152770673	AAC	A	criteria provided, single submitter	ClinGen:CA658657635
Deletion	NM_001159699.2(FHL1):c.466_470del (p.Ser156fs)	FHL1	Pathogenic	X	135290037	135290041	AAGCTT	A	criteria provided, single submitter	ClinGen:CA658659045
single nucleotide variant	NM_000117.3(EMD):c.430G>T (p.Glu144Ter)	EMD	Pathogenic	X	153609143	153609143	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA415258268
single nucleotide variant	NM_000117.3(EMD):c.12C>G (p.Tyr4Ter)	EMD	Pathogenic	X	153607856	153607856	C	G	criteria provided, single submitter	ClinGen:CA415256838
single nucleotide variant	NM_170707.4(LMNA):c.1385A>C (p.Gln462Pro)	LMNA	Likely pathogenic	1	156106716	156106716	A	C	criteria provided, single submitter	ClinGen:CA342822406
single nucleotide variant	NM_170707.4(LMNA):c.3G>A (p.Met1Ile)	LMNA	Pathogenic	1	156084712	156084712	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342805841
Deletion	NM_170707.4(LMNA):c.1142_1157+1del	LMNA	Pathogenic/Likely pathogenic	1	156105895	156105911	TGGAGGGCGAGGAGGAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795534