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.1334A>C (p.His445Pro)	IGHMBP2	Likely pathogenic	11	68700865	68700865	A	C	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)	IGHMBP2	Pathogenic	11	68696734	68696734	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002180.3(IGHMBP2):c.780del (p.Gln260fs)	IGHMBP2	Pathogenic	11	68682359	68682359	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.388C>T (p.Arg130Ter)	IGHMBP2	Pathogenic/Likely pathogenic	11	68675744	68675744	C	T	criteria provided, multiple submitters, no conflicts	-
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.121del (p.Gln41fs)	IGHMBP2	Pathogenic	11	68673570	68673570	TC	T	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	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter)	IGHMBP2	Pathogenic	11	68704523	68704523	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1633-2A>G	IGHMBP2	Likely pathogenic	11	68702765	68702765	A	G	criteria provided, single submitter	-