脊髄性筋萎縮症

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.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
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.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