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_018972.4(GDAP1):c.358C>T (p.Arg120Trp)	GDAP1	Pathogenic	8	75272419	75272419	C	T	criteria provided, multiple submitters, no conflicts	OMIM:606598.0009,ClinGen:CA339359
single nucleotide variant	NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro)	GDAP1	Pathogenic	8	75272530	75272530	A	C	criteria provided, single submitter	ClinGen:CA253038,OMIM:606598.0010
single nucleotide variant	NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)	GDAP1	Pathogenic/Likely pathogenic	8	75276240	75276240	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA116689,OMIM:606598.0011
single nucleotide variant	NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)	GDAP1	Pathogenic/Likely pathogenic	8	75275286	75275286	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA253042,OMIM:606598.0013
single nucleotide variant	NM_181882.3(PRX):c.2857C>T (p.Arg953Ter)	PRX	Pathogenic	19	40901402	40901402	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117076,OMIM:605725.0001
single nucleotide variant	NM_181882.3(PRX):c.1102C>T (p.Arg368Ter)	PRX	Pathogenic/Likely pathogenic	19	40903157	40903157	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117079,OMIM:605725.0003
single nucleotide variant	NM_181882.3(PRX):c.586C>T (p.Arg196Ter)	PRX	Pathogenic	19	40903673	40903673	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117082,OMIM:605725.0005
single nucleotide variant	NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)	PRX	Pathogenic/Likely pathogenic	19	40902114	40902114	A	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA343107,OMIM:605725.0006
single nucleotide variant	NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter)	PRX	Pathogenic/Likely pathogenic	19	40901051	40901051	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA117085,OMIM:605725.0008
single nucleotide variant	NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr)	SPTLC1	Pathogenic	9	94842327	94842327	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340286,UniProtKB:O15269#VAR_011393,OMIM:605712.0001