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.855dup (p.Glu286fs)	SMN1	Likely pathogenic	5	70247783	70247784	C	CA	criteria provided, single submitter	ClinGen:CA658683392
Deletion	NC_000005.10:g.(?_70951921)_(70952011_?)del	SMN1	Pathogenic	5	70247748	70247838	na	na	criteria provided, single submitter	-
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
Duplication	NM_000344.4(SMN1):c.135dup (p.Ala46fs)	SMN1	Likely pathogenic	5	70234716	70234717	T	TA	criteria provided, single submitter	ClinGen:CA658657451
Duplication	NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter)	SMN1	Pathogenic/Likely pathogenic	5	70234675	70234676	T	TCTGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657450
Deletion	NC_000005.10:g.70946066_70946176del	SMN1	Pathogenic	5	70241892	70242002	AGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT	A	criteria provided, single submitter	ClinGen:CA645372410
single nucleotide variant	NM_000344.4(SMN1):c.346A>T (p.Ile116Phe)	SMN1	Pathogenic	5	70238257	70238257	A	T	criteria provided, single submitter	ClinGen:CA254696,UniProtKB:Q16637#VAR_034807,OMIM:600354.0017
single nucleotide variant	NM_000344.4(SMN1):c.332C>G (p.Ala111Gly)	SMN1	Pathogenic	5	70238243	70238243	C	G	criteria provided, single submitter	ClinGen:CA254692,UniProtKB:Q16637#VAR_034806,OMIM:600354.0015
single nucleotide variant	NM_000344.4(SMN1):c.283G>C (p.Gly95Arg)	SMN1	Pathogenic	5	70238194	70238194	G	C	criteria provided, single submitter	ClinGen:CA254690,UniProtKB:Q16637#VAR_034805,OMIM:600354.0014
single nucleotide variant	NM_000344.4(SMN1):c.305G>A (p.Trp102Ter)	SMN1	Pathogenic	5	70238216	70238216	G	A	criteria provided, single submitter	ClinGen:CA254685,OMIM:600354.0010