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.707T>G (p.Leu236Ter)	IGHMBP2	Pathogenic	11	68679067	68679067	T	G	criteria provided, single submitter	ClinGen:CA254652,OMIM:600502.0006
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
single nucleotide variant	NM_000344.4(SMN1):c.283G>C (p.Gly95Arg)	SMN1	Pathogenic	5	70238194	70238194	G	C	criteria provided, single submitter	ClinGen:CA254690,UniProtKB:Q16637#VAR_034805,OMIM:600354.0014
single nucleotide variant	NM_000344.4(SMN1):c.332C>G (p.Ala111Gly)	SMN1	Pathogenic	5	70238243	70238243	C	G	criteria provided, single submitter	ClinGen:CA254692,UniProtKB:Q16637#VAR_034806,OMIM:600354.0015
single nucleotide variant	NM_000344.4(SMN1):c.346A>T (p.Ile116Phe)	SMN1	Pathogenic	5	70238257	70238257	A	T	criteria provided, single submitter	ClinGen:CA254696,UniProtKB:Q16637#VAR_034807,OMIM:600354.0017
single nucleotide variant	NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	IGHMBP2	Pathogenic	11	68673588	68673588	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346109,OMIM:600502.0010
single nucleotide variant	NM_002180.3(IGHMBP2):c.2784+1G>T	IGHMBP2	Pathogenic	11	68705823	68705823	G	T	criteria provided, single submitter	ClinGen:CA347308
single nucleotide variant	NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)	IGHMBP2	Pathogenic	11	68673542	68673542	G	A	criteria provided, single submitter	ClinVar:424782,ClinGen:CA351262