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
Deletion	NC_000005.10:g.(?_70951931)_(70952001_?)del	SMN1	Pathogenic	5	70247758	70247828	na	na	criteria provided, single submitter	-
Deletion	NM_002180.3(IGHMBP2):c.133del (p.Val45fs)	IGHMBP2	Pathogenic	11	68673583	68673583	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.711+1G>C	IGHMBP2	Pathogenic	11	68679072	68679072	G	C	criteria provided, single submitter	-
Deletion	NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs)	IGHMBP2	Pathogenic	11	68704543	68704546	AAAAG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)	IGHMBP2	Pathogenic	11	68704302	68704302	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)	IGHMBP2	Pathogenic	11	68696734	68696734	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002180.3(IGHMBP2):c.780del (p.Gln260fs)	IGHMBP2	Pathogenic	11	68682359	68682359	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)	IGHMBP2	Pathogenic	11	68673613	68673613	C	T	criteria provided, single submitter	-