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.683T>A (p.Leu228Ter)	SMN1	Pathogenic	5	70240540	70240540	T	A	criteria provided, single submitter	ClinGen:CA16044072
Deletion	NC_000005.10:g.(?_70951921)_(70952011_?)del	SMN1	Pathogenic	5	70247748	70247838	na	na	criteria provided, single submitter	-
Duplication	NM_000344.4(SMN1):c.855dup (p.Glu286fs)	SMN1	Likely pathogenic	5	70247783	70247784	C	CA	criteria provided, single submitter	ClinGen:CA658683392
Deletion	NM_000344.4(SMN1):c.835-21_*3+17del	SMN1	Pathogenic	5	70247747	70247838	ACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT	A	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_70951941)_(70951991_?)del	SMN1	Pathogenic	5	70247768	70247818	na	na	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_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
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	-