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>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.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.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
Deletion	NM_002180.3(IGHMBP2):c.729del (p.Ser244fs)	IGHMBP2	Likely pathogenic	11	68682304	68682304	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1060+1G>T	IGHMBP2	Likely pathogenic	11	68685352	68685352	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His)	IGHMBP2	Likely pathogenic	11	68703765	68703765	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro)	IGHMBP2	Likely pathogenic	11	68700865	68700865	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_000344.4(SMN1):c.824G>A (p.Gly275Asp)	SMN1	Likely pathogenic	5	70241993	70241993	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000344.4(SMN1):c.796T>C (p.Ser266Pro)	SMN1	Likely pathogenic	5	70241965	70241965	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000344.4(SMN1):c.77G>A (p.Gly26Asp)	SMN1	Likely pathogenic	5	70221007	70221007	G	A	criteria provided, single submitter	-