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
Duplication	NM_000344.4(SMN1):c.109dup (p.Thr37fs)	SMN1	Likely pathogenic	5	70234692	70234693	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_000344.4(SMN1):c.460C>T (p.Gln154Ter)	SMN1	Likely pathogenic	5	70238371	70238371	C	T	criteria provided, single submitter	-
Duplication	NM_000344.4(SMN1):c.770_780dup (p.Gly261fs)	SMN1	Pathogenic	5	70241936	70241937	A	ATGCTGATGCTT	criteria provided, multiple submitters, no conflicts	OMIM:600354.0001
Deletion	NM_002180.3(IGHMBP2):c.242del (p.Asn81fs)	IGHMBP2	Pathogenic	11	68673691	68673691	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)	IGHMBP2	Pathogenic	11	68700867	68700867	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000344.4(SMN1):c.835-2A>G	SMN1	Pathogenic/Likely pathogenic	5	70247766	70247766	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000344.4(SMN1):c.835-2A>T	SMN1	Likely pathogenic	5	70247766	70247766	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000344.4(SMN1):c.835-1G>A	SMN1	Pathogenic	5	70247767	70247767	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000344.4(SMN1):c.5C>T (p.Ala2Val)	SMN1	Likely pathogenic	5	70220935	70220935	C	T	criteria provided, single submitter	-
Duplication	NM_000344.4(SMN1):c.48_55dup (p.Val19fs)	SMN1	Pathogenic	5	70220977	70220978	A	AGGATTCCG	criteria provided, single submitter	-