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.2575C>T (p.Gln859Ter)	IGHMBP2	Pathogenic	11	68704523	68704523	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter)	IGHMBP2	Pathogenic	11	68701360	68701360	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)	IGHMBP2	Pathogenic	11	68682405	68682405	C	T	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_70951941)_(70951991_?)del	SMN1	Pathogenic	5	70247768	70247818	na	na	criteria provided, single submitter	-
Deletion	NM_000344.4(SMN1):c.835-21_*3+17del	SMN1	Pathogenic	5	70247747	70247838	ACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT	A	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)	IGHMBP2	Pathogenic	11	68702842	68702842	C	T	criteria provided, multiple submitters, no conflicts	-
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
single nucleotide variant	NM_002180.3(IGHMBP2):c.1235+894C>A	IGHMBP2	Pathogenic	11	68697719	68697719	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797697
single nucleotide variant	NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)	IGHMBP2	Pathogenic	11	68675795	68675795	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381643380
single nucleotide variant	NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)	IGHMBP2	Pathogenic	11	68704316	68704316	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153896