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_001303256.3(MORC2):c.798G>C (p.Arg266Ser)	MORC2	Pathogenic/Likely pathogenic	22	31337446	31337446	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621096
single nucleotide variant	NM_000166.6(GJB1):c.566T>G (p.Val189Gly)	GJB1	Pathogenic/Likely pathogenic	X	70444123	70444123	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621493
single nucleotide variant	NM_000166.6(GJB1):c.626T>G (p.Val209Gly)	GJB1	Likely pathogenic	X	70444183	70444183	T	G	criteria provided, single submitter	ClinGen:CA16621495
single nucleotide variant	NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)	HK1	Pathogenic/Likely pathogenic	10	71158514	71158514	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5532875,OMIM:142600.0005
single nucleotide variant	NM_170707.4(LMNA):c.158A>G (p.Glu53Gly)	LMNA	Pathogenic/Likely pathogenic	1	156084867	156084867	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621576
Deletion	NM_181882.3(PRX):c.3343del (p.Ala1115fs)	PRX	Likely pathogenic	19	40900916	40900916	GC	G	criteria provided, single submitter	ClinGen:CA16621740
Deletion	NM_024577.4(SH3TC2):c.1897del (p.Ala633fs)	SH3TC2	Pathogenic/Likely pathogenic	5	148407398	148407398	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16621827
single nucleotide variant	NM_170707.4(LMNA):c.619C>T (p.Gln207Ter)	LMNA	Likely pathogenic	1	156104299	156104299	C	T	criteria provided, single submitter	ClinGen:CA342817053
Duplication	NM_000530.8(MPZ):c.-23_8dup (p.Ala5fs)	MPZ	Pathogenic	1	161279687	161279688	A	AGGAGCCATAGCTGGGGCAGGGGCAGGGGCCC	criteria provided, single submitter	ClinGen:CA645293790
Deletion	NM_007289.4(MME):c.467del (p.Pro156fs)	MME	Pathogenic/Likely pathogenic	3	154834479	154834479	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA2675176,OMIM:120520.0007