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.391C>T (p.Gln131Ter)	LMNA	Pathogenic	1	156100442	156100442	C	T	criteria provided, single submitter	ClinGen:CA342815144
Duplication	NM_170707.4(LMNA):c.729dup (p.Ala244fs)	LMNA	Pathogenic	1	156104684	156104685	A	AT	criteria provided, single submitter	ClinGen:CA658795528
Indel	NM_170707.4(LMNA):c.744_745delinsTT (p.Arg249Trp)	LMNA	Pathogenic	1	156104700	156104701	GC	TT	criteria provided, single submitter	ClinGen:CA658795529
Deletion	NM_170707.4(LMNA):c.991_992del (p.Arg331fs)	LMNA	Pathogenic/Likely pathogenic	1	156105745	156105746	AGC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658795533
Deletion	NM_170707.4(LMNA):c.1142del (p.Glu381fs)	LMNA	Pathogenic	1	156105897	156105897	GA	G	criteria provided, single submitter	ClinGen:CA658795535
single nucleotide variant	NM_170707.4(LMNA):c.937-1G>A	LMNA	Likely pathogenic	1	156105691	156105691	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342819711
single nucleotide variant	NM_170707.4(LMNA):c.1380+2T>G	LMNA	Pathogenic	1	156106229	156106229	T	G	criteria provided, single submitter	ClinGen:CA342822325
Deletion	NC_000006.12:g.(?_152122416)_(153426916_?)del	SYNE1	Pathogenic	6	152443551	153748051	na	na	criteria provided, single submitter	-
Duplication	NM_001159699.2(FHL1):c.360dup (p.Phe121fs)	FHL1	Pathogenic	X	135289329	135289330	G	GC	criteria provided, single submitter	ClinGen:CA658799873
single nucleotide variant	NM_001159699.2(FHL1):c.416A>G (p.His139Arg)	FHL1	Pathogenic	X	135289987	135289987	A	G	criteria provided, single submitter	ClinGen:CA414608363