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_001376.5(DYNC1H1):c.3370C>T (p.His1124Tyr)	DYNC1H1	Pathogenic	14	102461359	102461359	C	T	criteria provided, single submitter	ClinGen:CA10584459
single nucleotide variant	NM_001376.5(DYNC1H1):c.4741A>G (p.Lys1581Glu)	DYNC1H1	Likely pathogenic	14	102469160	102469160	A	G	criteria provided, single submitter	ClinGen:CA10584463
single nucleotide variant	NM_001376.5(DYNC1H1):c.5884C>T (p.Arg1962Cys)	DYNC1H1	Pathogenic	14	102474581	102474581	C	T	criteria provided, multiple submitters, no conflicts	UniProtKB:Q14204#VAR_070583,ClinGen:CA10584465
single nucleotide variant	NM_001376.5(DYNC1H1):c.7793G>T (p.Gly2598Val)	DYNC1H1	Likely pathogenic	14	102483281	102483281	G	T	criteria provided, single submitter	ClinGen:CA10584467
single nucleotide variant	NM_001376.5(DYNC1H1):c.10420C>T (p.Arg3474Trp)	DYNC1H1	Pathogenic	14	102500319	102500319	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584472
single nucleotide variant	NM_001376.5(DYNC1H1):c.11897C>G (p.Pro3966Arg)	DYNC1H1	Likely pathogenic	14	102506966	102506966	C	G	criteria provided, single submitter	ClinGen:CA10584474
single nucleotide variant	NM_000304.4(PMP22):c.449G>A (p.Gly150Asp)	PMP22	Pathogenic	17	15134268	15134268	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584542,UniProtKB:Q01453#VAR_006379
single nucleotide variant	NM_001005361.3(DNM2):c.1106G>T (p.Arg369Leu)	DNM2	Likely pathogenic	19	10904509	10904509	G	T	criteria provided, single submitter	ClinGen:CA10584604
single nucleotide variant	NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser)	DNM2	Pathogenic/Likely pathogenic	19	10922991	10922991	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584607
single nucleotide variant	NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys)	DNM2	Pathogenic/Likely pathogenic	19	10930662	10930662	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584608,UniProtKB:P50570#VAR_068369