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.90C>G (p.Ile30Met)	MPZ	Pathogenic	1	161277192	161277192	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA277615,UniProtKB:P25189#VAR_004500
single nucleotide variant	NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)	MPZ	Likely pathogenic	1	161277181	161277181	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.103G>A (p.Asp35Asn)	MPZ	Pathogenic	1	161277179	161277179	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343351540
single nucleotide variant	NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)	MPZ	Pathogenic/Likely pathogenic	1	161277179	161277179	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA250638,UniProtKB:P25189#VAR_015971,OMIM:159440.0018
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
single nucleotide variant	NM_000530.8(MPZ):c.106A>T (p.Arg36Trp)	MPZ	Pathogenic	1	161277176	161277176	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA348853
single nucleotide variant	NM_000530.8(MPZ):c.116A>C (p.His39Pro)	MPZ	Pathogenic	1	161277166	161277166	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA347518,UniProtKB:P25189#VAR_054393
Deletion	NM_000530.8(MPZ):c.129_136del (p.Ser44fs)	MPZ	Pathogenic	1	161277146	161277153	ACCCGGGAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA1210225
Deletion	NM_000530.8(MPZ):c.130_137del (p.Ser44fs)	MPZ	Pathogenic/Likely pathogenic	1	161277145	161277152	CACCCGGGA	C	criteria provided, multiple submitters, no conflicts	-