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.2368C>T (p.Arg790Ter)	IGHMBP2	Pathogenic	11	68704316	68704316	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153896
Duplication	NM_000344.4(SMN1):c.855dup (p.Glu286fs)	SMN1	Likely pathogenic	5	70247783	70247784	C	CA	criteria provided, single submitter	ClinGen:CA658683392
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.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.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.1418+1G>C	IGHMBP2	Likely pathogenic	11	68700950	68700950	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn)	IGHMBP2	Pathogenic/Likely pathogenic	11	68696788	68696788	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153542
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.1274G>A (p.Arg425His)	IGHMBP2	Likely pathogenic	11	68700805	68700805	G	A	criteria provided, single submitter	ClinGen:CA6153589
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	-