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.785G>T (p.Ser262Ile)	SMN1	Pathogenic/Likely pathogenic	5	70241954	70241954	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254675,UniProtKB:Q16637#VAR_005616,OMIM:600354.0003
single nucleotide variant	NM_000344.4(SMN1):c.815A>G (p.Tyr272Cys)	SMN1	Pathogenic/Likely pathogenic	5	70241984	70241984	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA254677,UniProtKB:Q16637#VAR_005617,OMIM:600354.0004
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_000344.4(SMN1):c.305G>A (p.Trp102Ter)	SMN1	Pathogenic	5	70238216	70238216	G	A	criteria provided, single submitter	ClinGen:CA254685,OMIM:600354.0010
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.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.346A>T (p.Ile116Phe)	SMN1	Pathogenic	5	70238257	70238257	A	T	criteria provided, single submitter	ClinGen:CA254696,UniProtKB:Q16637#VAR_034807,OMIM:600354.0017
Deletion	NC_000005.10:g.70946066_70946176del	SMN1	Pathogenic	5	70241892	70242002	AGATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATAT	A	criteria provided, single submitter	ClinGen:CA645372410
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
Duplication	NM_000344.4(SMN1):c.135dup (p.Ala46fs)	SMN1	Likely pathogenic	5	70234716	70234717	T	TA	criteria provided, single submitter	ClinGen:CA658657451