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_170707.4(LMNA):c.988G>T (p.Glu330Ter)	LMNA	Pathogenic	1	156105743	156105743	G	T	criteria provided, single submitter	ClinGen:CA16609891
single nucleotide variant	NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)	MPZ	Likely pathogenic	1	161276645	161276645	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609892
single nucleotide variant	NM_000530.8(MPZ):c.325G>A (p.Asp109Asn)	MPZ	Likely pathogenic	1	161276621	161276621	C	T	criteria provided, single submitter	ClinGen:CA16609894
single nucleotide variant	NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)	MPZ	Pathogenic/Likely pathogenic	1	161277049	161277049	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609896
Duplication	NM_000530.8(MPZ):c.380_383dup (p.Asp128delinsGluTer)	MPZ	Pathogenic	1	161276562	161276563	G	GTCAC	criteria provided, single submitter	ClinGen:CA16609901
Deletion	NC_000005.10:g.(?_149062971)_(149063174_?)del	SH3TC2	Pathogenic	5	148442534	148442737	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002047.4(GARS1):c.1415A>G (p.His472Arg)	GARS1	Pathogenic	7	30661064	30661064	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612091,OMIM:600287.0013
single nucleotide variant	NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu)	GDAP1	Pathogenic/Likely pathogenic	8	75272519	75272519	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA4785102
Deletion	NM_018972.4(GDAP1):c.579del (p.Lys193fs)	GDAP1	Pathogenic	8	75274211	75274211	TA	T	criteria provided, single submitter	ClinGen:CA16612350
single nucleotide variant	NM_002047.4(GARS1):c.1705G>A (p.Glu569Lys)	GARS1	Likely pathogenic	7	30668181	30668181	G	A	criteria provided, single submitter	ClinGen:CA16612353