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.904C>T (p.Gln302Ter)	IGHMBP2	Likely pathogenic	11	68682483	68682483	C	T	criteria provided, single submitter	ClinGen:CA223392614
single nucleotide variant	NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)	IGHMBP2	Pathogenic	11	68682405	68682405	C	T	criteria provided, single submitter	-
Deletion	NM_002180.3(IGHMBP2):c.780del (p.Gln260fs)	IGHMBP2	Pathogenic	11	68682359	68682359	AG	A	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	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.711+1G>C	IGHMBP2	Pathogenic	11	68679072	68679072	G	C	criteria provided, single submitter	-
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
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.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.547+1G>A	IGHMBP2	Pathogenic/Likely pathogenic	11	68676100	68676100	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042766
single nucleotide variant	NM_002180.3(IGHMBP2):c.449+1G>A	IGHMBP2	Pathogenic	11	68675806	68675806	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA381643402