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
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.826C>T (p.Gln276Ter)	IGHMBP2	Pathogenic	11	68682405	68682405	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.257-2A>G	IGHMBP2	Likely pathogenic	11	68675611	68675611	A	G	criteria provided, single submitter	-
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	-
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.1274G>A (p.Arg425His)	IGHMBP2	Likely pathogenic	11	68700805	68700805	G	A	criteria provided, single submitter	ClinGen:CA6153589
single nucleotide variant	NM_002180.3(IGHMBP2):c.449+1G>A	IGHMBP2	Pathogenic	11	68675806	68675806	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA381643402
single nucleotide variant	NM_002180.3(IGHMBP2):c.1198G>A (p.Asp400Asn)	IGHMBP2	Pathogenic/Likely pathogenic	11	68696788	68696788	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153542
single nucleotide variant	NM_002180.3(IGHMBP2):c.1418+1G>C	IGHMBP2	Likely pathogenic	11	68700950	68700950	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1235+894C>A	IGHMBP2	Pathogenic	11	68697719	68697719	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658797697