シャルコー・マリー・トゥース病

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_000530.8(MPZ):c.419C>T (p.Ser140Phe)	MPZ	Likely pathogenic	1	161276527	161276527	G	A	criteria provided, single submitter	ClinGen:CA343348497
single nucleotide variant	NM_000530.8(MPZ):c.448+1G>T	MPZ	Likely pathogenic	1	161276497	161276497	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA343348071
single nucleotide variant	NM_000530.8(MPZ):c.298C>T (p.Gln100Ter)	MPZ	Pathogenic	1	161276648	161276648	G	A	criteria provided, single submitter	ClinGen:CA343349564
single nucleotide variant	NM_000530.8(MPZ):c.277G>C (p.Gly93Arg)	MPZ	Likely pathogenic	1	161276669	161276669	C	G	criteria provided, single submitter	ClinGen:CA343349733
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
single nucleotide variant	NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)	MPZ	Pathogenic	1	161277130	161277130	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA343351152
Deletion	NM_024577.4(SH3TC2):c.3425_3435del (p.Tyr1142fs)	SH3TC2	Pathogenic	5	148388457	148388467	AAGCCTTCTCAT	A	criteria provided, single submitter	ClinGen:CA563541573
single nucleotide variant	NM_024577.4(SH3TC2):c.385+2T>C	SH3TC2	Likely pathogenic	5	148424094	148424094	A	G	criteria provided, single submitter	ClinGen:CA3499536
single nucleotide variant	NM_024577.4(SH3TC2):c.1978C>T (p.Gln660Ter)	SH3TC2	Pathogenic	5	148407317	148407317	G	A	criteria provided, single submitter	ClinGen:CA361667337