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.382G>A (p.Asp128Asn)	MPZ	Likely pathogenic	1	161276564	161276564	C	T	criteria provided, single submitter	UniProtKB:P25189#VAR_004533,OMIM:159440.0015,ClinVar:14180
single nucleotide variant	NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)	MPV17	Likely pathogenic	2	27535456	27535456	C	G	criteria provided, multiple submitters, no conflicts	UniProtKB:P39210#VAR_076202
single nucleotide variant	NM_002437.5(MPV17):c.509C>T (p.Ser170Phe)	MPV17	Likely pathogenic	2	27532802	27532802	G	A	criteria provided, single submitter	ClinGen:CA342985
single nucleotide variant	NM_018706.7(DHTKD1):c.1455T>G (p.Tyr485Ter)	DHTKD1	Likely pathogenic	10	12139779	12139779	T	G	criteria provided, single submitter	ClinGen:CA130364,OMIM:614984.0004
single nucleotide variant	NM_000530.8(MPZ):c.89T>C (p.Ile30Thr)	MPZ	Likely pathogenic	1	161277193	161277193	A	G	criteria provided, single submitter	ClinGen:CA343888
single nucleotide variant	NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter)	SPG11	Likely pathogenic	15	44925759	44925759	G	C	criteria provided, single submitter	ClinGen:CA344304
single nucleotide variant	NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)	GNB4	Likely pathogenic	3	179137232	179137232	C	T	criteria provided, single submitter	ClinGen:CA130933,UniProtKB:Q9HAV0#VAR_069908,OMIM:610863.0001
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.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.745C>G (p.Arg249Gly)	LMNA	Likely pathogenic	1	156104701	156104701	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018552