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
Deletion	NM_025137.4(SPG11):c.704_705del (p.His235fs)	SPG11	Pathogenic	15	44949457	44949458	CAT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA344392
single nucleotide variant	NM_025137.4(SPG11):c.869+1G>A	SPG11	Pathogenic	15	44949292	44949292	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344399
single nucleotide variant	NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)	SPG11	Pathogenic	15	44941174	44941174	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344461
single nucleotide variant	NM_001005373.4(LRSAM1):c.2047-1G>A	LRSAM1	Pathogenic	9	130265052	130265052	G	A	criteria provided, single submitter	OMIM:610933.0003
single nucleotide variant	NM_021629.4(GNB4):c.158G>A (p.Gly53Asp)	GNB4	Likely pathogenic	3	179137232	179137232	C	T	criteria provided, single submitter	ClinGen:CA130933,UniProtKB:Q9HAV0#VAR_069908,OMIM:610863.0001
single nucleotide variant	NM_021629.4(GNB4):c.265A>G (p.Lys89Glu)	GNB4	Pathogenic	3	179134283	179134283	T	C	criteria provided, single submitter	ClinGen:CA130934,UniProtKB:Q9HAV0#VAR_069909,OMIM:610863.0002
Duplication	NM_170707.4(LMNA):c.1112_1115dup (p.Glu372fs)	LMNA	Pathogenic/Likely pathogenic	1	156105865	156105866	C	CATGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA261950
single nucleotide variant	NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys)	LMNA	Pathogenic/Likely pathogenic	1	156105884	156105884	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016641
single nucleotide variant	NM_170707.4(LMNA):c.1146C>T (p.Gly382=)	LMNA	Pathogenic/Likely pathogenic	1	156105901	156105901	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA016690
Duplication	NM_170707.4(LMNA):c.1526dup (p.Thr510fs)	LMNA	Pathogenic	1	156106935	156106936	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA017401