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_000344.4(SMN1):c.815A>G (p.Tyr272Cys)	SMN1	Pathogenic/Likely pathogenic	5	70241984	70241984	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA254677,UniProtKB:Q16637#VAR_005617,OMIM:600354.0004
single nucleotide variant	NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)	SMN1	Pathogenic/Likely pathogenic	5	70241954	70241954	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254675,UniProtKB:Q16637#VAR_005616,OMIM:600354.0003
Deletion	NM_002180.3(IGHMBP2):c.729del (p.Ser244fs)	IGHMBP2	Likely pathogenic	11	68682304	68682304	GC	G	criteria provided, single submitter	-
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.1060+1G>T	IGHMBP2	Likely pathogenic	11	68685352	68685352	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.711+1G>C	IGHMBP2	Pathogenic	11	68679072	68679072	G	C	criteria provided, single submitter	-
Deletion	NM_002180.3(IGHMBP2):c.2598_2601del (p.Lys868fs)	IGHMBP2	Pathogenic	11	68704543	68704546	AAAAG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.2362C>T (p.Arg788Ter)	IGHMBP2	Pathogenic/Likely pathogenic	11	68704310	68704310	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)	IGHMBP2	Pathogenic	11	68704302	68704302	AG	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1817G>A (p.Arg606His)	IGHMBP2	Likely pathogenic	11	68703765	68703765	G	A	criteria provided, single submitter	-