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_007254.4(PNKP):c.490C>T (p.Gln164Ter)	PNKP	Pathogenic	19	50368392	50368392	G	A	criteria provided, single submitter	ClinGen:CA316454
single nucleotide variant	NM_000530.8(MPZ):c.499G>A (p.Gly167Arg)	MPZ	Pathogenic	1	161276204	161276204	C	T	criteria provided, single submitter	ClinGen:CA347426,UniProtKB:P25189#VAR_004544
single nucleotide variant	NM_000530.8(MPZ):c.487G>A (p.Gly163Arg)	MPZ	Pathogenic	1	161276216	161276216	C	T	criteria provided, single submitter	ClinGen:CA347390,UniProtKB:P25189#VAR_004542
single nucleotide variant	NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)	MPZ	Pathogenic	1	161277101	161277101	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347381
Deletion	NM_181882.3(PRX):c.2289del (p.Asp765fs)	PRX	Pathogenic/Likely pathogenic	19	40901970	40901970	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA276018,OMIM:605725.0004
single nucleotide variant	NM_000530.8(MPZ):c.380G>C (p.Cys127Ser)	MPZ	Pathogenic/Likely pathogenic	1	161276566	161276566	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA204850
single nucleotide variant	NM_002047.4(GARS1):c.373G>A (p.Glu125Lys)	GARS1	Pathogenic	7	30639611	30639611	G	A	criteria provided, single submitter	ClinGen:CA204605,OMIM:600287.0009
single nucleotide variant	NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln)	DYNC1H1	Pathogenic	14	102469031	102469031	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA204734,UniProtKB:Q14204#VAR_070582
single nucleotide variant	NM_001376.5(DYNC1H1):c.10033G>A (p.Glu3345Lys)	DYNC1H1	Pathogenic	14	102498758	102498758	G	A	criteria provided, single submitter	ClinGen:CA204812
single nucleotide variant	NM_001376.5(DYNC1H1):c.1738G>A (p.Glu580Lys)	DYNC1H1	Likely pathogenic	14	102452300	102452300	G	A	criteria provided, single submitter	ClinGen:CA279255