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.2362C>T (p.Arg788Ter)	IGHMBP2	Pathogenic/Likely pathogenic	11	68704310	68704310	C	T	criteria provided, multiple submitters, no conflicts	-
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	-
Deletion	NM_000344.4(SMN1):c.584del (p.Pro195fs)	SMN1	Pathogenic/Likely pathogenic	5	70238652	70238652	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000344.4(SMN1):c.835-2A>G	SMN1	Pathogenic/Likely pathogenic	5	70247766	70247766	A	G	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	-
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.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.1198G>A (p.Asp400Asn)	IGHMBP2	Pathogenic/Likely pathogenic	11	68696788	68696788	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153542
Duplication	NM_000344.4(SMN1):c.93_96dup (p.Ile33Ter)	SMN1	Pathogenic/Likely pathogenic	5	70234675	70234676	T	TCTGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658657450
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