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_025137.4(SPG11):c.3686+2T>A	SPG11	Pathogenic	15	44892663	44892663	A	T	criteria provided, single submitter	ClinGen:CA392231011
Deletion	NM_001605.3(AARS1):c.327_331del (p.Tyr109_Lys111delinsTer)	AARS1	Likely pathogenic	16	70310871	70310875	TTAAAG	T	criteria provided, single submitter	ClinGen:CA8141173
Duplication	NM_181882.3(PRX):c.123_124dup (p.Ile42fs)	PRX	Likely pathogenic	19	40909672	40909673	A	ATT	criteria provided, single submitter	ClinGen:CA658799231
Deletion	NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs)	PNKP	Pathogenic/Likely pathogenic	19	50365036	50365049	CGGCTCGCGGCGTCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA9586485
Duplication	NM_025137.4(SPG11):c.3311dup (p.Asn1104fs)	SPG11	Pathogenic	15	44900783	44900784	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA7534999
Deletion	NM_025137.4(SPG11):c.2265del (p.Gln755fs)	SPG11	Pathogenic	15	44914977	44914977	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA490205010
Duplication	NM_000166.6(GJB1):c.324dup (p.Glu109Ter)	GJB1	Likely pathogenic	X	70443879	70443880	C	CT	criteria provided, single submitter	ClinGen:CA658799791
single nucleotide variant	NM_007289.4(MME):c.1342C>T (p.Arg448Ter)	MME	Pathogenic	3	154862172	154862172	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2675480
single nucleotide variant	NM_170707.4(LMNA):c.513+2T>G	LMNA	Likely pathogenic	1	156100566	156100566	T	G	criteria provided, single submitter	ClinGen:CA342815749
single nucleotide variant	NM_170707.4(LMNA):c.1608+5G>A	LMNA	Likely pathogenic	1	156107028	156107028	G	A	criteria provided, single submitter	ClinGen:CA658795540