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.89T>C (p.Ile30Thr)	MPZ	Likely pathogenic	1	161277193	161277193	A	G	criteria provided, single submitter	ClinGen:CA343888
single nucleotide variant	NM_000530.8(MPZ):c.244T>C (p.Tyr82His)	MPZ	Pathogenic/Likely pathogenic	1	161276702	161276702	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA343897
Deletion	NM_000530.8(MPZ):c.306del (p.Asp104fs)	MPZ	Pathogenic/Likely pathogenic	1	161276640	161276640	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA343903,OMIM:159440.0025
single nucleotide variant	NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)	MPZ	Pathogenic/Likely pathogenic	1	161276216	161276216	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA339741,UniProtKB:P25189#VAR_004542
single nucleotide variant	NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr)	MPZ	Pathogenic/Likely pathogenic	1	161275743	161275743	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA343909,UniProtKB:P25189#VAR_054397,OMIM:159440.0036
single nucleotide variant	NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly)	LITAF	Pathogenic	16	11647434	11647434	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA344230
single nucleotide variant	NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr)	LITAF	Pathogenic	16	11643576	11643576	G	T	criteria provided, single submitter	ClinGen:CA344234
single nucleotide variant	NM_006158.5(NEFL):c.293A>G (p.Asn98Ser)	NEFL	Pathogenic/Likely pathogenic	8	24813737	24813737	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA217547,UniProtKB:P07196#VAR_016023,OMIM:162280.0011
Deletion	NM_025137.4(SPG11):c.1203del (p.Asp402fs)	SPG11	Pathogenic	15	44943942	44943942	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA344292
single nucleotide variant	NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)	SPG11	Pathogenic/Likely pathogenic	15	44943910	44943910	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA344293