エメリー・ドレイフス型筋ジストロフィー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.784G>T (p.Glu262Ter)	LMNA	Likely pathogenic	1	156104740	156104740	G	T	criteria provided, single submitter	ClinGen:CA018633
Deletion	NM_170707.4(LMNA):c.763del (p.Gln255fs)	LMNA	Likely pathogenic	1	156104718	156104718	AC	A	criteria provided, single submitter	ClinGen:CA018586
single nucleotide variant	NM_170707.4(LMNA):c.745C>G (p.Arg249Gly)	LMNA	Likely pathogenic	1	156104701	156104701	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018552
single nucleotide variant	NM_170707.4(LMNA):c.513+1G>C	LMNA	Likely pathogenic	1	156100565	156100565	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA018184
single nucleotide variant	NM_170707.4(LMNA):c.154C>G (p.Leu52Val)	LMNA	Likely pathogenic	1	156084863	156084863	C	G	criteria provided, single submitter	ClinGen:CA017415
single nucleotide variant	NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	LMNA	Likely pathogenic	1	156104733	156104733	T	A	criteria provided, single submitter	ClinGen:CA018615,OMIM:150330.0035
single nucleotide variant	NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	LMNA	Likely pathogenic	1	156100449	156100449	G	C	criteria provided, single submitter	ClinGen:CA018038,UniProtKB:P02545#VAR_017657,OMIM:150330.0032
single nucleotide variant	NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg)	FHL1	Likely pathogenic	X	135290076	135290076	T	C	criteria provided, single submitter	ClinGen:CA121548,UniProtKB:Q13642#VAR_046001,OMIM:300163.0006