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.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.796T>C (p.Ser266Pro)	SMN1	Likely pathogenic	5	70241965	70241965	T	C	criteria provided, single submitter	-
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
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.724-2A>G	SMN1	Pathogenic	5	70241891	70241891	A	G	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
Deletion	NM_000344.4(SMN1):c.584del (p.Pro195fs)	SMN1	Pathogenic/Likely pathogenic	5	70238652	70238652	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000344.4(SMN1):c.570G>A (p.Trp190Ter)	SMN1	Pathogenic	5	70238640	70238640	G	A	criteria provided, single submitter	-
Deletion	NM_000344.4(SMN1):c.510_511del (p.Ser170fs)	SMN1	Pathogenic	5	70238579	70238580	AGT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000344.4(SMN1):c.460C>T (p.Gln154Ter)	SMN1	Likely pathogenic	5	70238371	70238371	C	T	criteria provided, single submitter	-