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.2T>C (p.Met1Thr)	IGHMBP2	Pathogenic/Likely pathogenic	11	68671422	68671422	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575803
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.127C>T (p.Arg43Ter)	IGHMBP2	Pathogenic	11	68673577	68673577	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153192
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.1193C>A (p.Ala398Glu)	IGHMBP2	Likely pathogenic	11	68696783	68696783	C	A	criteria provided, single submitter	ClinGen:CA10584086
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.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.1737C>A (p.Phe579Leu)	IGHMBP2	Pathogenic/Likely pathogenic	11	68702871	68702871	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584390
Indel	NM_002180.3(IGHMBP2):c.2197_2203delinsCA (p.Ile733fs)	IGHMBP2	Pathogenic	11	68704145	68704151	ATAGTGG	CA	criteria provided, single submitter	ClinGen:CA10604071