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.780del (p.Gln260fs)	IGHMBP2	Pathogenic	11	68682359	68682359	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)	IGHMBP2	Pathogenic	11	68682405	68682405	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.904C>T (p.Gln302Ter)	IGHMBP2	Likely pathogenic	11	68682483	68682483	C	T	criteria provided, single submitter	ClinGen:CA223392614
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
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
single nucleotide variant	NM_002180.3(IGHMBP2):c.1060+1G>T	IGHMBP2	Likely pathogenic	11	68685352	68685352	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1060+2T>C	IGHMBP2	Pathogenic	11	68685353	68685353	T	C	criteria provided, single submitter	ClinGen:CA10584388
single nucleotide variant	NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)	IGHMBP2	Pathogenic	11	68696672	68696672	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153517,UniProtKB:P38935#VAR_022326
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	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)	IGHMBP2	Pathogenic/Likely pathogenic	11	68696746	68696746	T	C	criteria provided, multiple submitters, no conflicts	-