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.2T>C (p.Met1Thr)	IGHMBP2	Pathogenic/Likely pathogenic	11	68671422	68671422	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575803
single nucleotide variant	NM_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)	IGHMBP2	Pathogenic	11	68673542	68673542	G	A	criteria provided, single submitter	ClinVar:424782,ClinGen:CA351262
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.127C>T (p.Arg43Ter)	IGHMBP2	Pathogenic	11	68673577	68673577	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153192
Deletion	NM_002180.3(IGHMBP2):c.133del (p.Val45fs)	IGHMBP2	Pathogenic	11	68673583	68673583	CG	C	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)	IGHMBP2	Pathogenic	11	68673588	68673588	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346109,OMIM:600502.0010
single nucleotide variant	NM_002180.3(IGHMBP2):c.163C>T (p.Gln55Ter)	IGHMBP2	Pathogenic	11	68673613	68673613	C	T	criteria provided, single submitter	-
Deletion	NM_002180.3(IGHMBP2):c.242del (p.Asn81fs)	IGHMBP2	Pathogenic	11	68673691	68673691	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.257-2A>G	IGHMBP2	Likely pathogenic	11	68675611	68675611	A	G	criteria provided, single submitter	-
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