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_002180.3(IGHMBP2):c.547+1G>A	IGHMBP2	Pathogenic/Likely pathogenic	11	68676100	68676100	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042766
single nucleotide variant	NM_002180.3(IGHMBP2):c.958C>T (p.Arg320Ter)	IGHMBP2	Pathogenic/Likely pathogenic	11	68685249	68685249	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153462
Indel	NM_002180.3(IGHMBP2):c.292_303delinsATGCT (p.Gly98fs)	IGHMBP2	Pathogenic	11	68675648	68675659	GGCAGTCAGCTG	ATGCT	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369513
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
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	NC_000005.10:g.(?_70951921)_(70952011_?)del	SMN1	Pathogenic	5	70247748	70247838	na	na	criteria provided, single submitter	-
Duplication	NM_002180.3(IGHMBP2):c.1681dup (p.Ile561fs)	IGHMBP2	Pathogenic	11	68702812	68702813	G	GA	criteria provided, single submitter	ClinGen:CA658658077
single nucleotide variant	NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)	IGHMBP2	Pathogenic	11	68703761	68703761	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA223412991