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_002180.3(IGHMBP2):c.1681dup (p.Ile561fs)	IGHMBP2	Pathogenic	11	68702812	68702813	G	GA	criteria provided, single submitter	ClinGen:CA658658077
single nucleotide variant	NM_001376.5(DYNC1H1):c.4532C>T (p.Pro1511Leu)	DYNC1H1	Likely pathogenic	14	102468008	102468008	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA391042819
single nucleotide variant	NM_022489.4(INF2):c.148T>G (p.Tyr50Asp)	INF2	Pathogenic	14	105167850	105167850	T	G	criteria provided, single submitter	ClinGen:CA391225100
single nucleotide variant	NM_022489.4(INF2):c.218G>T (p.Gly73Val)	INF2	Pathogenic	14	105167920	105167920	G	T	criteria provided, single submitter	ClinGen:CA267330465
single nucleotide variant	NM_022489.4(INF2):c.314T>A (p.Val105Glu)	INF2	Likely pathogenic	14	105168016	105168016	T	A	criteria provided, single submitter	ClinGen:CA391225858
Deletion	NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del)	INF2	Pathogenic	14	105169532	105169540	ACCCTGGACG	A	criteria provided, single submitter	ClinGen:CA658658276,OMIM:610982.0011
single nucleotide variant	NM_025137.4(SPG11):c.782C>A (p.Ser261Ter)	SPG11	Pathogenic	15	44949380	44949380	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7535724
single nucleotide variant	NM_025137.4(SPG11):c.2737C>T (p.Gln913Ter)	SPG11	Pathogenic	15	44912485	44912485	G	A	criteria provided, single submitter	ClinGen:CA392230734
single nucleotide variant	NM_025137.4(SPG11):c.7150A>T (p.Lys2384Ter)	SPG11	Pathogenic/Likely pathogenic	15	44856746	44856746	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392212219
Deletion	NM_025137.4(SPG11):c.6738del (p.Ile2246fs)	SPG11	Pathogenic	15	44859638	44859638	CA	C	criteria provided, single submitter	ClinGen:CA658658290