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_000344.4(SMN1):c.5C>T (p.Ala2Val)	SMN1	Likely pathogenic	5	70220935	70220935	C	T	criteria provided, single submitter	-
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_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.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.2598_2601del (p.Lys868fs)	IGHMBP2	Pathogenic	11	68704543	68704546	AAAAG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)	IGHMBP2	Pathogenic	11	68704545	68704546	AAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605931
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.2560C>T (p.Gln854Ter)	IGHMBP2	Pathogenic	11	68704508	68704508	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153941
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
single nucleotide variant	NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)	IGHMBP2	Pathogenic/Likely pathogenic	11	68704310	68704310	C	T	criteria provided, multiple submitters, no conflicts	-