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
Duplication	NM_000344.4(SMN1):c.135dup (p.Ala46fs)	SMN1	Likely pathogenic	5	70234716	70234717	T	TA	criteria provided, single submitter	ClinGen:CA658657451
single nucleotide variant	NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)	IGHMBP2	Likely pathogenic	11	68685351	68685351	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605930
single nucleotide variant	NM_002180.3(IGHMBP2):c.1193C>A (p.Ala398Glu)	IGHMBP2	Likely pathogenic	11	68696783	68696783	C	A	criteria provided, single submitter	ClinGen:CA10584086