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.393C>A (p.Asn131Lys)	MPZ	Pathogenic	1	161276553	161276553	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA123803,UniProtKB:P25189#VAR_015978,OMIM:159440.0021
single nucleotide variant	NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)	MPZ	Pathogenic	1	161277049	161277049	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA123805,UniProtKB:P25189#VAR_004512,OMIM:159440.0023
single nucleotide variant	NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser)	MPZ	Pathogenic	1	161276512	161276512	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257166,UniProtKB:P25189#VAR_029983,OMIM:159440.0026
single nucleotide variant	NM_000530.8(MPZ):c.276G>A (p.Val92=)	MPZ	Likely pathogenic	1	161276670	161276670	C	T	criteria provided, single submitter	OMIM:159440.0035
single nucleotide variant	NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)	LMNA	Pathogenic	1	156084725	156084725	C	T	criteria provided, single submitter	ClinGen:CA017675,OMIM:150330.0001
single nucleotide variant	NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	LMNA	Pathogenic/Likely pathogenic	1	156106204	156106204	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA017033,UniProtKB:P02545#VAR_009988,OMIM:150330.0002
single nucleotide variant	NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)	LMNA	Pathogenic	1	156106995	156106995	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA017498,UniProtKB:P02545#VAR_009995,OMIM:150330.0003
single nucleotide variant	NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)	LMNA	Pathogenic	1	156104265	156104265	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA018275,UniProtKB:P02545#VAR_009977,OMIM:150330.0007
single nucleotide variant	NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)	LMNA	Pathogenic	1	156104288	156104288	A	G	criteria provided, single submitter	ClinGen:CA018298,UniProtKB:P02545#VAR_009978,OMIM:150330.0008
single nucleotide variant	NM_170707.4(LMNA):c.398G>T (p.Arg133Leu)	LMNA	Pathogenic	1	156100449	156100449	G	T	criteria provided, single submitter	ClinGen:CA018044,UniProtKB:P02545#VAR_016913,OMIM:150330.0027