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.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.1737C>A (p.Phe579Leu)	IGHMBP2	Pathogenic/Likely pathogenic	11	68702871	68702871	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584390
single nucleotide variant	NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)	IGHMBP2	Pathogenic/Likely pathogenic	11	68701332	68701332	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153662
single nucleotide variant	NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)	IGHMBP2	Pathogenic/Likely pathogenic	11	68701322	68701322	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153653,UniProtKB:P38935#VAR_058504
single nucleotide variant	NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)	IGHMBP2	Pathogenic/Likely pathogenic	11	68671422	68671422	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575803
single nucleotide variant	NM_002180.3(IGHMBP2):c.449+1G>T	IGHMBP2	Pathogenic/Likely pathogenic	11	68675806	68675806	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347307,OMIM:600502.0015
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.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_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
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