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.1540G>A (p.Glu514Lys)	IGHMBP2	Pathogenic	11	68701934	68701934	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA254642,UniProtKB:P38935#VAR_022330,OMIM:600502.0001
single nucleotide variant	NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter)	IGHMBP2	Pathogenic	11	68701360	68701360	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)	IGHMBP2	Pathogenic/Likely pathogenic	11	68701332	68701332	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153662
single nucleotide variant	NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)	IGHMBP2	Pathogenic/Likely pathogenic	11	68701322	68701322	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153653,UniProtKB:P38935#VAR_058504
single nucleotide variant	NM_002180.3(IGHMBP2):c.1418+1G>C	IGHMBP2	Likely pathogenic	11	68700950	68700950	G	C	criteria provided, single submitter	-
Deletion	NM_002180.3(IGHMBP2):c.1346del (p.Met449fs)	IGHMBP2	Pathogenic	11	68700877	68700877	AT	A	criteria provided, single submitter	ClinGen:CA10584087
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	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1334A>C (p.His445Pro)	IGHMBP2	Likely pathogenic	11	68700865	68700865	A	C	criteria provided, single submitter	-
Duplication	NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)	IGHMBP2	Pathogenic/Likely pathogenic	11	68700843	68700844	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His)	IGHMBP2	Likely pathogenic	11	68700805	68700805	G	A	criteria provided, single submitter	ClinGen:CA6153589