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.835-2A>T	SMN1	Likely pathogenic	5	70247766	70247766	A	T	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.109dup (p.Thr37fs)	SMN1	Likely pathogenic	5	70234692	70234693	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1633-2A>G	IGHMBP2	Likely pathogenic	11	68702765	68702765	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.257-2A>G	IGHMBP2	Likely pathogenic	11	68675611	68675611	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His)	IGHMBP2	Likely pathogenic	11	68700805	68700805	G	A	criteria provided, single submitter	ClinGen:CA6153589
single nucleotide variant	NM_002180.3(IGHMBP2):c.1418+1G>C	IGHMBP2	Likely pathogenic	11	68700950	68700950	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)	IGHMBP2	Likely pathogenic	11	68682483	68682483	C	T	criteria provided, single submitter	ClinGen:CA223392614
Duplication	NM_000344.4(SMN1):c.855dup (p.Glu286fs)	SMN1	Likely pathogenic	5	70247783	70247784	C	CA	criteria provided, single submitter	ClinGen:CA658683392