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.1540G>A (p.Glu514Lys)	IGHMBP2	Pathogenic	11	68701934	68701934	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA254642,UniProtKB:P38935#VAR_022330,OMIM:600502.0001
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.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
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.707T>G (p.Leu236Ter)	IGHMBP2	Pathogenic	11	68679067	68679067	T	G	criteria provided, single submitter	ClinGen:CA254652,OMIM:600502.0006
single nucleotide variant	NM_002180.3(IGHMBP2):c.2611+1G>T	IGHMBP2	Pathogenic/Likely pathogenic	11	68704560	68704560	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254655,OMIM:600502.0007
single nucleotide variant	NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)	SMN1	Pathogenic/Likely pathogenic	5	70241954	70241954	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254675,UniProtKB:Q16637#VAR_005616,OMIM:600354.0003
single nucleotide variant	NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)	SMN1	Pathogenic/Likely pathogenic	5	70241984	70241984	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA254677,UniProtKB:Q16637#VAR_005617,OMIM:600354.0004
single nucleotide variant	NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)	SMN1	Pathogenic	5	70220935	70220935	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA254681,UniProtKB:Q16637#VAR_005615,OMIM:600354.0006
single nucleotide variant	NM_000344.4(SMN1):c.305G>A (p.Trp102Ter)	SMN1	Pathogenic	5	70238216	70238216	G	A	criteria provided, single submitter	ClinGen:CA254685,OMIM:600354.0010