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.77G>A (p.Gly26Asp)	SMN1	Likely pathogenic	5	70221007	70221007	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.570G>A (p.Trp190Ter)	SMN1	Pathogenic	5	70238640	70238640	G	A	criteria provided, single submitter	-
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.796T>C (p.Ser266Pro)	SMN1	Likely pathogenic	5	70241965	70241965	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000344.4(SMN1):c.824G>A (p.Gly275Asp)	SMN1	Likely pathogenic	5	70241993	70241993	G	A	criteria provided, single submitter	-
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.724-2A>G	SMN1	Pathogenic	5	70241891	70241891	A	G	criteria provided, single submitter	-
Deletion	NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)	IGHMBP2	Pathogenic	11	68673570	68673570	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)	IGHMBP2	Pathogenic	11	68673613	68673613	C	T	criteria provided, single submitter	-