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.1060+1G>T	IGHMBP2	Likely pathogenic	11	68685352	68685352	G	T	criteria provided, single submitter	-
Deletion	NM_002180.3(IGHMBP2):c.133del (p.Val45fs)	IGHMBP2	Pathogenic	11	68673583	68673583	CG	C	criteria provided, single submitter	-
Deletion	NM_002180.3(IGHMBP2):c.729del (p.Ser244fs)	IGHMBP2	Likely pathogenic	11	68682304	68682304	GC	G	criteria provided, single submitter	-