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.1078C>T (p.Gln360Ter)	LMNA	Pathogenic	1	156105833	156105833	C	T	criteria provided, single submitter	ClinGen:CA16617001
Deletion	NM_170707.4(LMNA):c.1629_1636del (p.Val544fs)	LMNA	Pathogenic	1	156107462	156107469	AGCTGGTGC	A	criteria provided, single submitter	ClinGen:CA16617002
Duplication	NM_000530.8(MPZ):c.149_151dup (p.Cys50dup)	MPZ	Likely pathogenic	1	161277130	161277131	G	GAGC	criteria provided, single submitter	ClinGen:CA16617015
single nucleotide variant	NM_000530.8(MPZ):c.106A>G (p.Arg36Gly)	MPZ	Likely pathogenic	1	161277176	161277176	T	C	criteria provided, single submitter	ClinGen:CA16617016
Deletion	NM_000530.8(MPZ):c.26del (p.Ser9fs)	MPZ	Likely pathogenic	1	161279670	161279670	GC	G	criteria provided, single submitter	ClinGen:CA16617017
single nucleotide variant	NM_002437.5(MPV17):c.461G>T (p.Arg154Met)	MPV17	Likely pathogenic	2	27534767	27534767	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617524
single nucleotide variant	NM_002437.5(MPV17):c.408+1G>A	MPV17	Likely pathogenic	2	27535081	27535081	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1575532
single nucleotide variant	NM_002437.5(MPV17):c.375G>A (p.Arg125=)	MPV17	Likely pathogenic	2	27535361	27535361	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617525
single nucleotide variant	NM_024577.4(SH3TC2):c.1585C>T (p.Arg529Cys)	SH3TC2	Likely pathogenic	5	148407710	148407710	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA3499152
single nucleotide variant	NM_024577.4(SH3TC2):c.1135+3G>C	SH3TC2	Likely pathogenic	5	148411114	148411114	C	G	criteria provided, single submitter	ClinGen:CA16618136