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.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.305G>A (p.Trp102Ter)	SMN1	Pathogenic	5	70238216	70238216	G	A	criteria provided, single submitter	ClinGen:CA254685,OMIM:600354.0010
Deletion	NM_000344.3(SMN1):c.274_284del11	SMN1	Pathogenic	5	70238184	70238194	AGTGGAAAGTTG	A	criteria provided, single submitter	-
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
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.109dup (p.Thr37fs)	SMN1	Likely pathogenic	5	70234692	70234693	T	TA	criteria provided, single submitter	-
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
single nucleotide variant	NM_000344.4(SMN1):c.77G>A (p.Gly26Asp)	SMN1	Likely pathogenic	5	70221007	70221007	G	A	criteria provided, single submitter	-
Duplication	NM_000344.4(SMN1):c.48_55dup (p.Val19fs)	SMN1	Pathogenic	5	70220977	70220978	A	AGGATTCCG	criteria provided, single submitter	-