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
Deletion	NM_002180.3(IGHMBP2):c.121del (p.Gln41fs)	IGHMBP2	Pathogenic	11	68673570	68673570	TC	T	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_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.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	-
Duplication	NM_000344.4(SMN1):c.48_55dup (p.Val19fs)	SMN1	Pathogenic	5	70220977	70220978	A	AGGATTCCG	criteria provided, single submitter	-
single nucleotide variant	NM_000344.4(SMN1):c.835-1G>A	SMN1	Pathogenic	5	70247767	70247767	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)	IGHMBP2	Pathogenic	11	68700867	68700867	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002180.3(IGHMBP2):c.242del (p.Asn81fs)	IGHMBP2	Pathogenic	11	68673691	68673691	TA	T	criteria provided, multiple submitters, no conflicts	-
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