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_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)	IGHMBP2	Pathogenic	11	68701934	68701934	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA254642,UniProtKB:P38935#VAR_022330,OMIM:600502.0001
single nucleotide variant	NM_002180.3(IGHMBP2):c.638A>G (p.His213Arg)	IGHMBP2	Pathogenic/Likely pathogenic	11	68678998	68678998	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA254644,UniProtKB:P38935#VAR_022322,OMIM:600502.0002
single nucleotide variant	NM_002180.3(IGHMBP2):c.1738G>A (p.Val580Ile)	IGHMBP2	Pathogenic/Likely pathogenic	11	68702872	68702872	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA254646,UniProtKB:P38935#VAR_022334,OMIM:600502.0003
Deletion	NM_002180.3(IGHMBP2):c.675del (p.Glu226fs)	IGHMBP2	Pathogenic/Likely pathogenic	11	68679034	68679034	GT	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA254651,OMIM:600502.0005
single nucleotide variant	NM_002180.3(IGHMBP2):c.707T>G (p.Leu236Ter)	IGHMBP2	Pathogenic	11	68679067	68679067	T	G	criteria provided, single submitter	ClinGen:CA254652,OMIM:600502.0006
single nucleotide variant	NM_002180.3(IGHMBP2):c.2611+1G>T	IGHMBP2	Pathogenic/Likely pathogenic	11	68704560	68704560	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254655,OMIM:600502.0007
single nucleotide variant	NM_002047.4(GARS1):c.880G>C (p.Gly294Arg)	GARS1	Pathogenic	7	30649345	30649345	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA254704,UniProtKB:P41250#VAR_018720,OMIM:600287.0001
single nucleotide variant	NM_002047.4(GARS1):c.548T>C (p.Leu183Pro)	GARS1	Pathogenic	7	30640795	30640795	T	C	criteria provided, single submitter	ClinGen:CA254706,UniProtKB:P41250#VAR_018719,OMIM:600287.0002
single nucleotide variant	NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg)	GARS1	Pathogenic	7	30668214	30668214	G	C	criteria provided, single submitter	ClinGen:CA254710,UniProtKB:P41250#VAR_018721,OMIM:600287.0004
single nucleotide variant	NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser)	PRPS1	Likely pathogenic	X	106884166	106884166	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA254933,UniProtKB:P60891#VAR_004163,OMIM:311850.0001