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_014874.4(MFN2):c.318C>G (p.Ser106Arg)	MFN2	Pathogenic	1	12056219	12056219	C	G	criteria provided, single submitter	ClinGen:CA338433854
single nucleotide variant	NM_170707.4(LMNA):c.94A>G (p.Lys32Glu)	LMNA	Pathogenic/Likely pathogenic	1	156084803	156084803	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA342807424
single nucleotide variant	NM_170707.4(LMNA):c.592C>T (p.Gln198Ter)	LMNA	Pathogenic	1	156104272	156104272	C	T	criteria provided, single submitter	ClinGen:CA342816989
single nucleotide variant	NM_170707.4(LMNA):c.1558T>C (p.Trp520Arg)	LMNA	Pathogenic	1	156106973	156106973	T	C	criteria provided, single submitter	ClinGen:CA342823343
single nucleotide variant	NM_000530.8(MPZ):c.397C>A (p.Pro133Thr)	MPZ	Pathogenic/Likely pathogenic	1	161276549	161276549	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343348701
single nucleotide variant	NM_170707.4(LMNA):c.877C>T (p.Gln293Ter)	LMNA	Pathogenic	1	156105044	156105044	C	T	criteria provided, single submitter	ClinGen:CA342817717
Deletion	NM_170707.4(LMNA):c.1436del (p.Leu479fs)	LMNA	Pathogenic/Likely pathogenic	1	156106767	156106767	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658656966
single nucleotide variant	NM_170707.4(LMNA):c.936+1G>A	LMNA	Pathogenic	1	156105104	156105104	G	A	criteria provided, single submitter	ClinGen:CA342818117
single nucleotide variant	NM_000530.8(MPZ):c.394C>G (p.Pro132Ala)	MPZ	Pathogenic	1	161276552	161276552	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA343348732
single nucleotide variant	NM_000530.8(MPZ):c.256C>T (p.Gln86Ter)	MPZ	Pathogenic	1	161276690	161276690	G	A	criteria provided, single submitter	ClinGen:CA343349897