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_001005373.4(LRSAM1):c.2050C>T (p.Gln684Ter)	LRSAM1	Likely pathogenic	9	130265056	130265056	C	T	criteria provided, single submitter	ClinGen:CA10584300
single nucleotide variant	NM_006415.4(SPTLC1):c.58G>T (p.Ala20Ser)	SPTLC1	Pathogenic	9	94874844	94874844	C	A	criteria provided, single submitter	OMIM:605712.0011,ClinGen:CA10584304
single nucleotide variant	NM_000399.5(EGR2):c.1151A>G (p.His384Arg)	EGR2	Pathogenic	10	64573247	64573247	T	C	criteria provided, single submitter	ClinGen:CA10584305
single nucleotide variant	NM_002180.3(IGHMBP2):c.1060+2T>C	IGHMBP2	Pathogenic	11	68685353	68685353	T	C	criteria provided, single submitter	ClinGen:CA10584388
single nucleotide variant	NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)	IGHMBP2	Pathogenic	11	68696672	68696672	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153517,UniProtKB:P38935#VAR_022326
single nucleotide variant	NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)	IGHMBP2	Pathogenic/Likely pathogenic	11	68702871	68702871	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584390
single nucleotide variant	NM_030962.4(SBF2):c.4315C>T (p.Gln1439Ter)	SBF2	Pathogenic	11	9829675	9829675	G	A	criteria provided, single submitter	ClinGen:CA10584394
single nucleotide variant	NM_001376.5(DYNC1H1):c.256+5G>C	DYNC1H1	Likely pathogenic	14	102431289	102431289	G	C	criteria provided, single submitter	ClinGen:CA10584452
single nucleotide variant	NM_001376.5(DYNC1H1):c.1013A>T (p.Asp338Val)	DYNC1H1	Likely pathogenic	14	102449407	102449407	A	T	criteria provided, single submitter	ClinGen:CA10584454
single nucleotide variant	NM_001376.5(DYNC1H1):c.1793G>T (p.Arg598Leu)	DYNC1H1	Pathogenic	14	102452355	102452355	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584457