シャルコー・マリー・トゥース病

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.443T>C (p.Leu148Pro)	LMNA	Likely pathogenic	1	156100494	156100494	T	C	criteria provided, single submitter	ClinGen:CA10584118
single nucleotide variant	NM_170707.4(LMNA):c.513+1G>A	LMNA	Pathogenic/Likely pathogenic	1	156100565	156100565	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584120
single nucleotide variant	NM_170707.4(LMNA):c.917T>C (p.Leu306Pro)	LMNA	Likely pathogenic	1	156105084	156105084	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584123
Deletion	NM_170707.4(LMNA):c.1150del (p.Glu384fs)	LMNA	Pathogenic	1	156105904	156105904	AG	A	criteria provided, single submitter	ClinGen:CA10584127
single nucleotide variant	NM_170707.4(LMNA):c.1157+1G>T	LMNA	Pathogenic/Likely pathogenic	1	156105913	156105913	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584128
single nucleotide variant	NM_170707.4(LMNA):c.1489-2A>G	LMNA	Likely pathogenic	1	156106902	156106902	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584131
single nucleotide variant	NM_170707.4(LMNA):c.1540T>C (p.Trp514Arg)	LMNA	Pathogenic	1	156106955	156106955	T	C	criteria provided, single submitter	ClinGen:CA10584133
single nucleotide variant	NM_000530.8(MPZ):c.584+2T>G	MPZ	Pathogenic	1	161276117	161276117	A	C	criteria provided, single submitter	ClinGen:CA10584142,OMIM:159440.0032
single nucleotide variant	NM_000530.8(MPZ):c.356A>G (p.Tyr119Cys)	MPZ	Pathogenic/Likely pathogenic	1	161276590	161276590	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584144,UniProtKB:P25189#VAR_031891
Deletion	NM_000530.8(MPZ):c.188_190del (p.Ser63del)	MPZ	Pathogenic	1	161277092	161277094	AAGG	A	criteria provided, multiple submitters, no conflicts	OMIM:159440.0003,ClinGen:CA10584145