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.2560C>T (p.Gln854Ter)	IGHMBP2	Pathogenic	11	68704508	68704508	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153941
single nucleotide variant	NM_002180.3(IGHMBP2):c.1060G>A (p.Gly354Ser)	IGHMBP2	Likely pathogenic	11	68685351	68685351	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605930
Deletion	NM_002180.3(IGHMBP2):c.2598_2599del (p.Lys868fs)	IGHMBP2	Pathogenic	11	68704545	68704546	AAG	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605931
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
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
single nucleotide variant	NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)	IGHMBP2	Pathogenic	11	68704316	68704316	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153896
single nucleotide variant	NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)	IGHMBP2	Pathogenic	11	68675795	68675795	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA381643380