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.2356del (p.Ala786fs)	IGHMBP2	Pathogenic	11	68704302	68704302	AG	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_002180.3(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs)	IGHMBP2	Pathogenic	11	68704145	68704151	ATAGTGG	CA	criteria provided, single submitter	ClinGen:CA10604071
single nucleotide variant	NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His)	IGHMBP2	Likely pathogenic	11	68703765	68703765	G	A	criteria provided, single submitter	-
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.1738G>A (p.Val580Ile)	IGHMBP2	Pathogenic/Likely pathogenic	11	68702872	68702872	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA254646,UniProtKB:P38935#VAR_022334,OMIM:600502.0003
single nucleotide variant	NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)	IGHMBP2	Pathogenic/Likely pathogenic	11	68702871	68702871	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584390
single nucleotide variant	NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)	IGHMBP2	Pathogenic	11	68702842	68702842	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)	IGHMBP2	Pathogenic/Likely pathogenic	11	68702827	68702827	G	A	criteria provided, multiple submitters, no conflicts	-
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.1633-2A>G	IGHMBP2	Likely pathogenic	11	68702765	68702765	A	G	criteria provided, single submitter	-