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
Duplication	NM_025137.4(SPG11):c.5772_5781dup (p.His1928fs)	SPG11	Pathogenic	15	44876096	44876097	G	GCAGATCCTCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA7534351
Deletion	NM_025137.4(SPG11):c.4777del (p.Ile1593fs)	SPG11	Pathogenic	15	44881579	44881579	AT	A	criteria provided, single submitter	ClinGen:CA16619930
Duplication	NM_025137.4(SPG11):c.4773dup (p.Val1592fs)	SPG11	Likely pathogenic	15	44881582	44881583	C	CA	criteria provided, single submitter	ClinGen:CA16619931
Deletion	NM_025137.4(SPG11):c.3321_3324del (p.Asn1106_Cys1107insTer)	SPG11	Pathogenic	15	44900771	44900774	TCAAA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7534997
Duplication	NM_025137.4(SPG11):c.3260_3267dup (p.Tyr1090fs)	SPG11	Likely pathogenic	15	44903061	44903062	A	ACATTGTAG	criteria provided, single submitter	ClinGen:CA16619932
Duplication	NM_025137.4(SPG11):c.616dup (p.Thr206fs)	SPG11	Pathogenic	15	44951327	44951328	G	GT	criteria provided, single submitter	ClinGen:CA7535788
single nucleotide variant	NM_001605.3(AARS1):c.985C>T (p.Arg329Cys)	AARS1	Likely pathogenic	16	70302260	70302260	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620263
single nucleotide variant	NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe)	DNM2	Likely pathogenic	19	10904473	10904473	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16620726
Duplication	NM_007254.4(PNKP):c.1287_1298+1dup	PNKP	Likely pathogenic	19	50365027	50365028	A	ACCTGGCGCGGCTC	criteria provided, single submitter	ClinGen:CA16620874
Duplication	NM_007254.4(PNKP):c.1189_1237dup (p.Leu413delinsArgHisAlaArgLeuLeuAlaAlaLeuCysAspHisValTer)	PNKP	Likely pathogenic	19	50365089	50365090	A	AGGGCTGTCTCACACGTGGTCACACAGCGCTGCCAGGAGCCTAGCGTGTC	criteria provided, single submitter	ClinGen:CA16620875